Details for: KMT2D

Gene ID: 8085

Symbol: KMT2D

Ensembl ID: ENSG00000167548

Description: lysine methyltransferase 2D

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 122.4724
    Cell Significance Index: -19.0500
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 73.7256
    Cell Significance Index: -18.7000
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 42.4608
    Cell Significance Index: -17.2500
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 41.6735
    Cell Significance Index: -19.6800
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 18.0782
    Cell Significance Index: -17.2600
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 15.9698
    Cell Significance Index: -19.6900
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 7.0403
    Cell Significance Index: -18.8600
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 6.1599
    Cell Significance Index: -18.9200
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 5.0380
    Cell Significance Index: -19.8800
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 4.9393
    Cell Significance Index: -10.8100
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 1.1318
    Cell Significance Index: 184.0800
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.1143
    Cell Significance Index: 110.2300
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.0525
    Cell Significance Index: 14.3600
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.9812
    Cell Significance Index: 885.9500
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.9739
    Cell Significance Index: 193.2800
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.8006
    Cell Significance Index: 160.5900
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.7889
    Cell Significance Index: 47.3600
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.7822
    Cell Significance Index: 91.1600
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.7321
    Cell Significance Index: 79.6300
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.7089
    Cell Significance Index: 19.0000
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.4946
    Cell Significance Index: 14.2500
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.4566
    Cell Significance Index: 82.3100
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.4562
    Cell Significance Index: 12.7500
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.4004
    Cell Significance Index: 10.0100
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.3864
    Cell Significance Index: 138.6000
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.3797
    Cell Significance Index: 26.2600
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.3628
    Cell Significance Index: 7.8600
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.3627
    Cell Significance Index: 16.4400
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.3615
    Cell Significance Index: 44.4500
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.3259
    Cell Significance Index: 18.2900
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.2984
    Cell Significance Index: 18.8100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.2952
    Cell Significance Index: 22.6600
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.2573
    Cell Significance Index: 4.7600
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2213
    Cell Significance Index: 42.1100
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.2206
    Cell Significance Index: 14.2400
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.2140
    Cell Significance Index: 5.5000
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.2021
    Cell Significance Index: 10.5000
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.1845
    Cell Significance Index: 9.6100
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.1404
    Cell Significance Index: 9.4400
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.1257
    Cell Significance Index: 5.8600
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.1072
    Cell Significance Index: 58.5400
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.1058
    Cell Significance Index: 14.5300
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.1056
    Cell Significance Index: 4.6700
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1025
    Cell Significance Index: 45.3000
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.0808
    Cell Significance Index: 2.2000
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.0718
    Cell Significance Index: 3.3800
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0706
    Cell Significance Index: 2.4800
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.0646
    Cell Significance Index: 2.4500
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.0556
    Cell Significance Index: 6.5600
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.0424
    Cell Significance Index: 0.3900
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.0394
    Cell Significance Index: 0.4700
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.0297
    Cell Significance Index: 0.6500
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.0266
    Cell Significance Index: 0.7100
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0177
    Cell Significance Index: 33.3800
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.0133
    Cell Significance Index: 0.8200
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0117
    Cell Significance Index: 18.0300
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0106
    Cell Significance Index: 1.8100
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0105
    Cell Significance Index: 19.4500
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0100
    Cell Significance Index: 13.5800
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0093
    Cell Significance Index: 5.8900
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.0034
    Cell Significance Index: 0.0900
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0021
    Cell Significance Index: 0.9700
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0033
    Cell Significance Index: -0.0700
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0137
    Cell Significance Index: -10.0100
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0149
    Cell Significance Index: -11.3000
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0188
    Cell Significance Index: -13.9200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0309
    Cell Significance Index: -17.4500
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0334
    Cell Significance Index: -20.8700
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0352
    Cell Significance Index: -3.6000
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0363
    Cell Significance Index: -4.6500
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0503
    Cell Significance Index: -5.7700
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0542
    Cell Significance Index: -15.6000
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.0631
    Cell Significance Index: -1.8000
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0663
    Cell Significance Index: -8.5700
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0679
    Cell Significance Index: -9.8700
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.0774
    Cell Significance Index: -2.0700
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0962
    Cell Significance Index: -20.2600
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1149
    Cell Significance Index: -8.5600
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.1253
    Cell Significance Index: -8.8600
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -0.1490
    Cell Significance Index: -0.9000
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1681
    Cell Significance Index: -17.5000
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.1762
    Cell Significance Index: -3.0200
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.2048
    Cell Significance Index: -5.8700
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.2078
    Cell Significance Index: -6.6600
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.2162
    Cell Significance Index: -4.2200
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.2204
    Cell Significance Index: -11.5700
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2240
    Cell Significance Index: -17.7400
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.2389
    Cell Significance Index: -5.7300
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: -0.2500
    Cell Significance Index: -3.6000
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.2597
    Cell Significance Index: -15.9200
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.2764
    Cell Significance Index: -4.6300
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.2874
    Cell Significance Index: -6.1000
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.3095
    Cell Significance Index: -7.1500
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.3426
    Cell Significance Index: -10.9100
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.3533
    Cell Significance Index: -5.0600
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.3613
    Cell Significance Index: -11.8300
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.3638
    Cell Significance Index: -5.3700
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.3735
    Cell Significance Index: -8.0700
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.3783
    Cell Significance Index: -5.5900
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.3791
    Cell Significance Index: -7.6100

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Histone Methylation:** KMT2D is a histone lysine methyltransferase, which means it catalyzes the transfer of a methyl group to specific lysine residues on histone proteins, leading to changes in chromatin structure and gene expression. 2. **Developmental Biology:** KMT2D is essential for the proper development of various tissues and organs, including the hindbrain, cerebellum, and cerebral cortex. 3. **Cell Proliferation and Differentiation:** KMT2D regulates cell proliferation and differentiation by controlling the expression of key developmental genes and transcription factors. 4. **Epigenetic Regulation:** KMT2D's activity is tightly regulated by other epigenetic enzymes, such as WDR5, to ensure precise control over gene expression. **Pathways and Functions:** 1. **Activation of Anterior Hox Genes:** KMT2D is involved in the activation of anterior hox genes in hindbrain development during early embryogenesis. 2. **Beta-Catenin-Tcf Complex Assembly:** KMT2D regulates the assembly of the beta-catenin-Tcf complex, a key transcriptional regulatory network involved in cell proliferation and differentiation. 3. **Chromatin Modification:** KMT2D is a chromatin-modifying enzyme that regulates chromatin structure and gene expression through histone methylation. 4. **RNA Polymerase II Transcription:** KMT2D positively regulates transcription by RNA polymerase II, ensuring the proper expression of genes involved in cell proliferation and differentiation. **Clinical Significance:** 1. **Cancer:** Aberrant KMT2D expression has been implicated in various cancers, including leukemia, lymphoma, and breast cancer, highlighting its potential as a therapeutic target. 2. **Neurological Disorders:** KMT2D's involvement in neurological disorders, such as autism spectrum disorder and schizophrenia, underscores the importance of its role in brain development and function. 3. **Developmental Biology:** KMT2D's essential role in developmental biology makes it a valuable target for understanding and treating congenital disorders and developmental abnormalities. 4. **Estrogen Signaling:** KMT2D's positive regulation of estrogen receptor signaling pathways highlights its potential as a therapeutic target for hormone-related disorders. In conclusion, KMT2D is a multifaceted gene that plays a critical role in regulating gene expression, development, and cell proliferation. Its involvement in various cellular processes and diseases underscores the importance of further research into the mechanisms of KMT2D and its potential therapeutic applications.

Genular Protein ID: 2973080739

Symbol: KMT2D_HUMAN

Name: Histone-lysine N-methyltransferase 2D

UniProtKB Accession Codes:

O14686 O14687

Database IDs:

AGR 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 8 CORUM 1 CPTAC 1 CTD 1 ChEBI 11 ChEMBL 1 ChiTaRS 1 ComplexPortal 1 DIP 1 DNASU 1 DisGeNET 1 EC 1 ELM 1 EMBL 3 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 20 Gene3D 4 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 IDEAL 1 InParanoid 1 IntAct 1 InterPro 18 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 6 PDBsum 6 PIR 2 PRO 1 PROSITE 8 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 6 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 6 RefSeq 3 Rhea 4 SIGNOR 1 SMART 7 SMR 1 STRING 1 SUPFAM 3 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9247308

Title: Structure and expression pattern of human ALR, a novel gene with strong homology to ALL-1 involved in acute leukemia and to Drosophila trithorax.

PubMed ID: 9247308

DOI: 10.1038/sj.onc.1201211

PubMed ID: 16541075

Title: The finished DNA sequence of human chromosome 12.

PubMed ID: 16541075

DOI: 10.1038/nature04569

PubMed ID: 12482968

Title: Activating signal cointegrator 2 belongs to a novel steady-state complex that contains a subset of trithorax group proteins.

PubMed ID: 12482968

DOI: 10.1128/mcb.23.1.140-149.2003

PubMed ID: 17081983

Title: Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.

PubMed ID: 17081983

DOI: 10.1016/j.cell.2006.09.026

PubMed ID: 16603732

Title: Identification of the MLL2 complex as a coactivator for estrogen receptor alpha.

PubMed ID: 16603732

DOI: 10.1074/jbc.m513245200

PubMed ID: 17021013

Title: Coactivator as a target gene specificity determinant for histone H3 lysine 4 methyltransferases.

PubMed ID: 17021013

DOI: 10.1073/pnas.0607313103

PubMed ID: 17500065

Title: PTIP associates with MLL3- and MLL4-containing histone H3 lysine 4 methyltransferase complex.

PubMed ID: 17500065

DOI: 10.1074/jbc.m701574200

PubMed ID: 17851529

Title: A histone H3 lysine 27 demethylase regulates animal posterior development.

PubMed ID: 17851529

DOI: 10.1038/nature06192

PubMed ID: 17525332

Title: ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.

PubMed ID: 17525332

DOI: 10.1126/science.1140321

PubMed ID: 17761849

Title: Demethylation of H3K27 regulates polycomb recruitment and H2A ubiquitination.

PubMed ID: 17761849

DOI: 10.1126/science.1149042

PubMed ID: 18220336

Title: Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis.

PubMed ID: 18220336

DOI: 10.1021/pr0705441

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 23508102

Title: Quantitative dissection and stoichiometry determination of the human SET1/MLL histone methyltransferase complexes.

PubMed ID: 23508102

DOI: 10.1128/mcb.01742-12

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 24129315

Title: Immunoaffinity enrichment and mass spectrometry analysis of protein methylation.

PubMed ID: 24129315

DOI: 10.1074/mcp.o113.027870

PubMed ID: 25218447

Title: Uncovering global SUMOylation signaling networks in a site-specific manner.

PubMed ID: 25218447

DOI: 10.1038/nsmb.2890

PubMed ID: 28112733

Title: Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation.

PubMed ID: 28112733

DOI: 10.1038/nsmb.3366

PubMed ID: 25561738

Title: Biochemical reconstitution and phylogenetic comparison of human SET1 family core complexes involved in histone methylation.

PubMed ID: 25561738

DOI: 10.1074/jbc.m114.627646

PubMed ID: 22665483

Title: Structural basis for WDR5 interaction (Win) motif recognition in human SET1 family histone methyltransferases.

PubMed ID: 22665483

DOI: 10.1074/jbc.m112.364125

PubMed ID: 22266653

Title: The plasticity of WDR5 peptide-binding cleft enables the binding of the SET1 family of histone methyltransferases.

PubMed ID: 22266653

DOI: 10.1093/nar/gkr1235

PubMed ID: 20711175

Title: Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.

PubMed ID: 20711175

DOI: 10.1038/ng.646

PubMed ID: 21671394

Title: Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome.

PubMed ID: 21671394

DOI: 10.1002/ajmg.a.34074

PubMed ID: 21607748

Title: A mutation screen in patients with Kabuki syndrome.

PubMed ID: 21607748

DOI: 10.1007/s00439-011-1004-y

PubMed ID: 21280141

Title: MLL2 mutation spectrum in 45 patients with Kabuki syndrome.

PubMed ID: 21280141

DOI: 10.1002/humu.21416

PubMed ID: 21658225

Title: Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients.

PubMed ID: 21658225

DOI: 10.1186/1750-1172-6-38

PubMed ID: 22126750

Title: How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum.

PubMed ID: 22126750

DOI: 10.1038/ejhg.2011.220

PubMed ID: 23913813

Title: MLL2 and KDM6A mutations in patients with Kabuki syndrome.

PubMed ID: 23913813

DOI: 10.1002/ajmg.a.36072

PubMed ID: 24739679

Title: Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome.

PubMed ID: 24739679

DOI: 10.1038/jhg.2014.25

PubMed ID: 23320472

Title: MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.

PubMed ID: 23320472

DOI: 10.1111/cge.12081

PubMed ID: 31846209

Title: Holoprosencephaly in Kabuki syndrome.

PubMed ID: 31846209

DOI: 10.1002/ajmg.a.61454

PubMed ID: 32083401

Title: Phenotypic expansion of KMT2D-related disorder: Beyond Kabuki syndrome.

PubMed ID: 32083401

DOI: 10.1002/ajmg.a.61518

PubMed ID: 31949313

Title: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.

PubMed ID: 31949313

DOI: 10.1038/s41436-019-0743-3

PubMed ID: 32203228

Title: Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.

PubMed ID: 32203228

DOI: 10.1038/s41436-020-0784-7

PubMed ID: 35060672

Title: Refining the clinical phenotype associated with missense variants in exons 38 and 39 of KMT2D.

PubMed ID: 35060672

DOI: 10.1002/ajmg.a.62642

Sequence Information:

  • Length: 5537
  • Mass: 593389
  • Checksum: 31C6DAB0A754F72A
  • Sequence:
    • MDSQKLAGED KDSEPAADGP AASEDPSATE SDLPNPHVGE VSVLSSGSPR LQETPQDCSG 
GPVRRCALCN CGEPSLHGQR ELRRFELPFD WPRCPVVSPG GSPGPNEAVL PSEDLSQIGF 
PEGLTPAHLG EPGGSCWAHH WCAAWSAGVW GQEGPELCGV DKAIFSGISQ RCSHCTRLGA 
SIPCRSPGCP RLYHFPCATA SGSFLSMKTL QLLCPEHSEG AAYLEEARCA VCEGPGELCD 
LFFCTSCGHH YHGACLDTAL TARKRAGWQC PECKVCQACR KPGNDSKMLV CETCDKGYHT 
FCLKPPMEEL PAHSWKCKAC RVCRACGAGS AELNPNSEWF ENYSLCHRCH KAQGGQTIRS 
VAEQHTPVCS RFSPPEPGDT PTDEPDALYV ACQGQPKGGH VTSMQPKEPG PLQCEAKPLG 
KAGVQLEPQL EAPLNEEMPL LPPPEESPLS PPPEESPTSP PPEASRLSPP PEELPASPLP 
EALHLSRPLE ESPLSPPPEE SPLSPPPESS PFSPLEESPL SPPEESPPSP ALETPLSPPP 
EASPLSPPFE ESPLSPPPEE LPTSPPPEAS RLSPPPEESP MSPPPEESPM SPPPEASRLF 
PPFEESPLSP PPEESPLSPP PEASRLSPPP EDSPMSPPPE ESPMSPPPEV SRLSPLPVVS 
RLSPPPEESP LSPPPEESPT SPPPEASRLS PPPEDSPTSP PPEDSPASPP PEDSLMSLPL 
EESPLLPLPE EPQLCPRSEG PHLSPRPEEP HLSPRPEEPH LSPQAEEPHL SPQPEEPCLC 
AVPEEPHLSP QAEGPHLSPQ PEELHLSPQT EEPHLSPVPE EPCLSPQPEE SHLSPQSEEP 
CLSPRPEESH LSPELEKPPL SPRPEKPPEE PGQCPAPEEL PLFPPPGEPS LSPLLGEPAL 
SEPGEPPLSP LPEELPLSPS GEPSLSPQLM PPDPLPPPLS PIITAAAPPA LSPLGELEYP 
FGAKGDSDPE SPLAAPILET PISPPPEANC TDPEPVPPMI LPPSPGSPVG PASPILMEPL 
PPQCSPLLQH SLVPQNSPPS QCSPPALPLS VPSPLSPIGK VVGVSDEAEL HEMETEKVSE 
PECPALEPSA TSPLPSPMGD LSCPAPSPAP ALDDFSGLGE DTAPLDGIDA PGSQPEPGQT 
PGSLASELKG SPVLLDPEEL APVTPMEVYP ECKQTAGQGS PCEEQEEPRA PVAPTPPTLI 
KSDIVNEISN LSQGDASASF PGSEPLLGSP DPEGGGSLSM ELGVSTDVSP ARDEGSLRLC 
TDSLPETDDS LLCDAGTAIS GGKAEGEKGR RRSSPARSRI KQGRSSSFPG RRRPRGGAHG 
GRGRGRARLK STASSIETLV VADIDSSPSK EEEEEDDDTM QNTVVLFSNT DKFVLMQDMC 
VVCGSFGRGA EGHLLACSQC SQCYHPYCVN SKITKVMLLK GWRCVECIVC EVCGQASDPS 
RLLLCDDCDI SYHTYCLDPP LLTVPKGGWK CKWCVSCMQC GAASPGFHCE WQNSYTHCGP 
CASLVTCPIC HAPYVEEDLL IQCRHCERWM HAGCESLFTE DDVEQAADEG FDCVSCQPYV 
VKPVAPVAPP ELVPMKVKEP EPQYFRFEGV WLTETGMALL RNLTMSPLHK RRQRRGRLGL 
PGEAGLEGSE PSDALGPDDK KDGDLDTDEL LKGEGGVEHM ECEIKLEGPV SPDVEPGKEE 
TEESKKRKRK PYRPGIGGFM VRQRKSHTRT KKGPAAQAEV LSGDGQPDEV IPADLPAEGA 
VEQSLAEGDE KKKQQRRGRK KSKLEDMFPA YLQEAFFGKE LLDLSRKALF AVGVGRPSFG 
LGTPKAKGDG GSERKELPTS QKGDDGPDIA DEESRGLEGK ADTPGPEDGG VKASPVPSDP 
EKPGTPGEGM LSSDLDRIST EELPKMESKD LQQLFKDVLG SEREQHLGCG TPGLEGSRTP 
LQRPFLQGGL PLGNLPSSSP MDSYPGLCQS PFLDSRERGG FFSPEPGEPD SPWTGSGGTT 
PSTPTTPTTE GEGDGLSYNQ RSLQRWEKDE ELGQLSTISP VLYANINFPN LKQDYPDWSS 
RCKQIMKLWR KVPAADKAPY LQKAKDNRAA HRINKVQKQA ESQINKQTKV GDIARKTDRP 
ALHLRIPPQP GALGSPPPAA APTIFIGSPT TPAGLSTSAD GFLKPPAGSV PGPDSPGELF 
LKLPPQVPAQ VPSQDPFGLA PAYPLEPRFP TAPPTYPPYP SPTGAPAQPP MLGASSRPGA 
GQPGEFHTTP PGTPRHQPST PDPFLKPRCP SLDNLAVPES PGVGGGKASE PLLSPPPFGE 
SRKALEVKKE ELGASSPSYG PPNLGFVDSP SSGTHLGGLE LKTPDVFKAP LTPRASQVEP 
QSPGLGLRPQ EPPPAQALAP SPPSHPDIFR PGSYTDPYAQ PPLTPRPQPP PPESCCALPP 
RSLPSDPFSR VPASPQSQSS SQSPLTPRPL SAEAFCPSPV TPRFQSPDPY SRPPSRPQSR 
DPFAPLHKPP RPQPPEVAFK AGSLAHTSLG AGGFPAALPA GPAGELHAKV PSGQPPNFVR 
SPGTGAFVGT PSPMRFTFPQ AVGEPSLKPP VPQPGLPPPH GINSHFGPGP TLGKPQSTNY 
TVATGNFHPS GSPLGPSSGS TGESYGLSPL RPPSVLPPPA PDGSLPYLSH GASQRSGITS 
PVEKREDPGT GMGSSLATAE LPGTQDPGMS GLSQTELEKQ RQRQRLRELL IRQQIQRNTL 
RQEKETAAAA AGAVGPPGSW GAEPSSPAFE QLSRGQTPFA GTQDKSSLVG LPPSKLSGPI 
LGPGSFPSDD RLSRPPPPAT PSSMDVNSRQ LVGGSQAFYQ RAPYPGSLPL QQQQQQLWQQ 
QQATAATSMR FAMSARFPST PGPELGRQAL GSPLAGISTR LPGPGEPVPG PAGPAQFIEL 
RHNVQKGLGP GGTPFPGQGP PQRPRFYPVS EDPHRLAPEG LRGLAVSGLP PQKPSAPPAP 
ELNNSLHPTP HTKGPTLPTG LELVNRPPSS TELGRPNPLA LEAGKLPCED PELDDDFDAH 
KALEDDEELA HLGLGVDVAK GDDELGTLEN LETNDPHLDD LLNGDEFDLL AYTDPELDTG 
DKKDIFNEHL RLVESANEKA EREALLRGVE PGPLGPEERP PPAADASEPR LASVLPEVKP 
KVEEGGRHPS PCQFTIATPK VEPAPAANSL GLGLKPGQSM MGSRDTRMGT GPFSSSGHTA 
EKASFGATGG PPAHLLTPSP LSGPGGSSLL EKFELESGAL TLPGGPAASG DELDKMESSL 
VASELPLLIE DLLEHEKKEL QKKQQLSAQL QPAQQQQQQQ QQHSLLSAPG PAQAMSLPHE 
GSSPSLAGSQ QQLSLGLAGA RQPGLPQPLM PTQPPAHALQ QRLAPSMAMV SNQGHMLSGQ 
HGGQAGLVPQ QSSQPVLSQK PMGTMPPSMC MKPQQLAMQQ QLANSFFPDT DLDKFAAEDI 
IDPIAKAKMV ALKGIKKVMA QGSIGVAPGM NRQQVSLLAQ RLSGGPSSDL QNHVAAGSGQ 
ERSAGDPSQP RPNPPTFAQG VINEADQRQY EEWLFHTQQL LQMQLKVLEE QIGVHRKSRK 
ALCAKQRTAK KAGREFPEAD AEKLKLVTEQ QSKIQKQLDQ VRKQQKEHTN LMAEYRNKQQ 
QQQQQQQQQQ QQHSAVLALS PSQSPRLLTK LPGQLLPGHG LQPPQGPPGG QAGGLRLTPG 
GMALPGQPGG PFLNTALAQQ QQQQHSGGAG SLAGPSGGFF PGNLALRSLG PDSRLLQERQ 
LQLQQQRMQL AQKLQQQQQQ QQQQQHLLGQ VAIQQQQQQG PGVQTNQALG PKPQGLMPPS 
SHQGLLVQQL SPQPPQGPQG MLGPAQVAVL QQQHPGALGP QGPHRQVLMT QSRVLSSPQL 
AQQGQGLMGH RLVTAQQQQQ QQQHQQQGSM AGLSHLQQSL MSHSGQPKLS AQPMGSLQQL 
QQQQQLQQQQ QLQQQQQQQL QQQQQLQQQQ LQQQQQQQQL QQQQQQQLQQ QQQQLQQQQQ 
QQQQQFQQQQ QQQQMGLLNQ SRTLLSPQQQ QQQQVALGPG MPAKPLQHFS SPGALGPTLL 
LTGKEQNTVD PAVSSEATEG PSTHQGGPLA IGTTPESMAT EPGEVKPSLS GDSQLLLVQP 
QPQPQPSSLQ LQPPLRLPGQ QQQQVSLLHT AGGGSHGQLG SGSSSEASSV PHLLAQPSVS 
LGDQPGSMTQ NLLGPQQPML ERPMQNNTGP QPPKPGPVLQ SGQGLPGVGI MPTVGQLRAQ 
LQGVLAKNPQ LRHLSPQQQQ QLQALLMQRQ LQQSQAVRQT PPYQEPGTQT SPLQGLLGCQ 
PQLGGFPGPQ TGPLQELGAG PRPQGPPRLP APPGALSTGP VLGPVHPTPP PSSPQEPKRP 
SQLPSPSSQL PTEAQLPPTH PGTPKPQGPT LEPPPGRVSP AAAQLADTLF SKGLGPWDPP 
DNLAETQKPE QSSLVPGHLD QVNGQVVPEA SQLSIKQEPR EEPCALGAQS VKREANGEPI 
GAPGTSNHLL LAGPRSEAGH LLLQKLLRAK NVQLSTGRGS EGLRAEINGH IDSKLAGLEQ 
KLQGTPSNKE DAAARKPLTP KPKRVQKASD RLVSSRKKLR KEDGVRASEA LLKQLKQELS 
LLPLTEPAIT ANFSLFAPFG SGCPVNGQSQ LRGAFGSGAL PTGPDYYSQL LTKNNLSNPP 
TPPSSLPPTP PPSVQQKMVN GVTPSEELGE HPKDAASARD SERALRDTSE VKSLDLLAAL 
PTPPHNQTED VRMESDEDSD SPDSIVPASS PESILGEEAP RFPHLGSGRW EQEDRALSPV 
IPLIPRASIP VFPDTKPYGA LGLEVPGKLP VTTWEKGKGS EVSVMLTVSA AAAKNLNGVM 
VAVAELLSMK IPNSYEVLFP ESPARAGTEP KKGEAEGPGG KEKGLEGKSP DTGPDWLKQF 
DAVLPGYTLK SQLDILSLLK QESPAPEPPT QHSYTYNVSN LDVRQLSAPP PEEPSPPPSP 
LAPSPASPPT EPLVELPTEP LAEPPVPSPL PLASSPESAR PKPRARPPEE GEDSRPPRLK 
KWKGVRWKRL RLLLTIQKGS GRQEDEREVA EFMEQLGTAL RPDKVPRDMR RCCFCHEEGD 
GATDGPARLL NLDLDLWVHL NCALWSTEVY ETQGGALMNV EVALHRGLLT KCSLCQRTGA 
TSSCNRMRCP NVYHFACAIR AKCMFFKDKT MLCPMHKIKG PCEQELSSFA VFRRVYIERD 
EVKQIASIIQ RGERLHMFRV GGLVFHAIGQ LLPHQMADFH SATALYPVGY EATRIYWSLR 
TNNRRCCYRC SIGENNGRPE FVIKVIEQGL EDLVFTDASP QAVWNRIIEP VAAMRKEADM 
LRLFPEYLKG EELFGLTVHA VLRIAESLPG VESCQNYLFR YGRHPLMELP LMINPTGCAR 
SEPKILTHYK RPHTLNSTSM SKAYQSTFTG ETNTPYSKQF VHSKSSQYRR LRTEWKNNVY 
LARSRIQGLG LYAAKDLEKH TMVIEYIGTI IRNEVANRRE KIYEEQNRGI YMFRINNEHV 
IDATLTGGPA RYINHSCAPN CVAEVVTFDK EDKIIIISSR RIPKGEELTY DYQFDFEDDQ 
HKIPCHCGAW NCRKWMN

Genular Protein ID: 843328129

Symbol: Q6PIA1_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q6PIA1

Database IDs:

ARBA 11 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChEBI 5 DNASU 1 DisGeNET 1 EC 1 EMBL 2 GO 6 Gene3D 2 InterPro 5 KEGG 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 6 PeptideAtlas 1 Pfam 3 PharmGKB 1 RefSeq 1 Rhea 4 SMART 4 SUPFAM 1

Citations:

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

Sequence Information:

  • Length: 395
  • Mass: 45887
  • Checksum: FFFB100760B8623B
  • Sequence:
    • EQELSSFAVF RRVYIERDEV KQIASIIQRG ERLHMFRVGG LVFHAIGQLL PHQMADFHSA 
TALYPVGYEA TRIYWSLRTN NRRCCYRCSI GENNGRPEFV IKVIEQGLED LVFTDASPQA 
VWNRIIEPVA AMRKEADMLR LFPEYLKGEE LFGLTVHAVL RIAESLPGVE SCQNYLFRYG 
RHPLMELPLM INPTGCARSE PKILTHYKRP HTLNSTSMSK AYQSTFTGET NTPYSKQFVH 
SKSSQYRRLR TEWKNNVYLA RSRIQGLGLY AAKDLEKHTM VIEYIGTIIR NEVANRREKI 
YEEQNRGIYM FRINNEHVID ATLTGGPARY INHSCAPNCV AEVVTFDKED KIIIISSRRI 
PKGEELTYDY QFDFEDDQHK IPCHCGAWNC RKWMN

Genular Protein ID: 1034996948

Symbol: Q59FG6_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q59FG6

Database IDs:

ARBA 12 BioGRID-ORCS 1 CDD 2 CTD 1 ChEBI 5 DNASU 1 DisGeNET 1 EC 1 EMBL 2 GO 3 Gene3D 3 InterPro 10 KEGG 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 8 PeptideAtlas 1 Pfam 4 PharmGKB 1 RefSeq 1 Rhea 4 SAM 2 SMART 5 SUPFAM 1

Sequence Information:

  • Length: 2704
  • Mass: 293186
  • Checksum: 41D0C6900D23C5ED
  • Sequence:
    • SARFPSTPGP ELGRQALGSP LAGISTRLPG PGEPVPGPAG PAQFIELRHN VQKGLGPGGT 
PFPGQGPPQR PRFYPVSEDP HRLAPEGLRG LAVSGLPPQK PSAPPAPELN NSLHPTPHTK 
GPTLPTGLEL VNRPPSSTEL GRPNPLALEA GKLPCEDPEL DDDFDAHKAL EDDEELAHLG 
LGVDVAKGDD ELGTLENLET NDPHLDDLLN GDEFDLLAYT DPELDTGDKK DIFNEHLRLV 
ESANEKAERE ALLRGVEPGP LGPEERPPPA ADASEPRLAS VLPEVKPKVE EGGRHPSPCQ 
FTIATPKVEP APAANSLGLG LKPGQSMMGS RDTRMGTGPF SSSGHTAEKA SFGATGGPPA 
HLLTPSPLSG PGGSSLLEKF ELESGALTLP GGPAASGDEL DKMESSLVAS ELPLLIEDLL 
EHEKKELQKK QQLSAQLQPA QQQQQQQQQH SLLSAPGPAQ AMSLPHEGSS PSLAGSQQQL 
SLGLAGARQP GLPQPLMPTQ PPAHALQQRL APSMAMVSNQ GHMLSGQHGG QAGLVPQQSS 
QPVLSQKPMG TMPPSMCMKP QQLAMQQQLA NSFFPDTDLD KFAAEDIIDP IAKAKMVALK 
GIKKVMAQGS IGVAPGMNRQ QVSLLAQRLS GGPSSDLQNH VAAGSGQERS AGDPSQPRPN 
PPTFAQGVIN EADQRQYEEW LFHTQQLLQM QLKVLEEQIG VHRKSRKALC AKQRTAKKAG 
REFPEADAEK LKLVTEQQSK IQKQLDQVRK QQKEHTNLMA EYRNKQQQQQ QQQQQQQQQH 
SAVLALSPSQ SPRLLTKLPG QLLPGHGLQP PQGPPGGQAG GLRLTPGGMA LPGQPGGPFL 
NTALAQQQQQ QHSGGAGSLA GPSGGFFPGN LALRSLGPDS RLLQERQLQL QQQRMQLAQK 
LQQQQQQQQQ QQHLLGQVAI QQQQQQGPGV QTNQALGPKP QGLMPPSSHQ GLLVQQLSPQ 
PPQGPQGMLG PAQVAVLQQQ HPGALGPQGP HRQVLMTQSR VLSSPQLAQQ GQGLMGHRLV 
TAQQQQQQQQ HQQQGSMAGL SHLQQSLMSH SGQPKLSAQP MGSLQQLQQQ QQLQQQQQLQ 
QQQQQQLQQQ QQLQQQQLQQ QQQQQQLQQQ QQQQLQQQQQ QLQQQQQQQQ QQFQQQQQQQ 
QMGLLNQSRT LLSPQQQQQQ QVALGPGMPA KPLQHFSSPG ALGPTLLLTG KEQNTVDPAV 
SSEATEGPST HQGGPLAIGT TPESMATEPG EVKPSLSGDS QLLLVQPQPQ PQPSSLQLQP 
PLRLPGQQQQ QVSLLHTAGG GSHGQLGSGS SSEASSVPHL LAQPSVSLGD QPGSMTQNLL 
GPQQPMLERP MQNNTGPQPP KPGPVLQSGQ GLPGVGIMPT VGQLRAQLQG VLAKNPQLRH 
LSPQQQQQLQ ALLMQRQLQQ SQAVRQTPPY QEPGTQTSPL QGLLGCQPQL GGFPGPQTGP 
LQELGAGPRP QGPPRLPAPP GALSTGPVLG PVHPTPPPSS PQEPKRPSQL PSPSSQLPTE 
AQLPPTHPGT PKPQGPTLEP PPGRVSPAAA QLADTLFSKG LGPWDPPDNL AETQKPEQSS 
LVPGHLDQVN GQVVPEASQL SIKQEPREEP CALGAQSVKR EANGEPIGAP GTSNHLLLAG 
PRSEAGHLLL QKLLRAKNVQ LSTGRGSEGL RAEINGHIDS KLAGLEQKLQ GTPSNKEDAA 
ARKPLTPKPK RVQKASDRLV SSRKKLRKED GVRASEALLK QLKQELSLLP LTEPAITANF 
SLFAPFGSGC PVNGQSQLRG AFGSGALPTG PDYYSQLLTK NNLSNPPTPP SSLPPTPPPS 
VQQKMVNGVT PSEELGEHPK DAASARDSER ALRDTSEVKS LDLLAALPTP PHNQTEDVRM 
ESDEDSDSPD SIVPASSPES ILGEEAPRFP HLGSGRWEQE DRALSPVIPL IPRASIPVFP 
DTKPYGALGL EVPGKLPVTT WEKGKGSEVS VMLTVSAAAA KNLNGVMVAV AELLSMKIPN 
SYEVLFPESP ARAGTEPKKG EAEGPGGKEK GLEGKSPDTG PDWLKQFDAV LPGYTLKSQL 
DILSLLKQES PAPEPPTQHS YTYNVSNLDV RQLSAPPPEE PSPPPSPLAP SPASPPTEPL 
VELPTEPLAE PPVPSPLPLA SSPESARPKP RARPPEEGED SRPPRLKKWK GVRWKRLRLL 
LTIQKGSGRQ EDEREVAEFM EQLGTALRPD KVPRDMRRCC FCHEEGDGAT DGPARLLNLD 
LDLWVHLNCA LWSTEVYETQ GGALMNVEVA LHRGLLTKCS LCQRTGATSS CNRMRCPNVY 
HFACAIRAKC MFFKDKTMLC PMHKIKGPCE QELSSFAVFR RVYIERDEVK QIASIIQRGE 
RLHMFRVGGL VFHAIGQLLP HQMADFHSAT ALYPVGYEAT RIYWSLRTNN RRCCYRCSIG 
ENNGRPEFVI KVIEQGLEDL VFTDASPQAV WNRIIEPVAA MRKEADMLRL FPEYLKGEEL 
FGLTVHAVLR IAESLPGVES CQNYLFRYGR HPLMELPLMI NPTGCARSEP KILTHYKRPH 
TLNSTSMSKA YQSTFTGETN TPYSKQFVHS KSSQYRRLRT EWKNNVYLAR SRIQGLGLYA 
AKDLEKHTMV IEYIGTIIRN EVANRREKIY EEQNRGIYMF RINNEHVIDA TLTGGPARYI 
NHSCAPNCVA EVVTFDKEDK IIIISSRRIP KGEELTYDYQ FDFEDDQHKI PCHCGAWNCR 
KWMN

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.