Details for: COL11A2

Gene ID: 1302

Symbol: COL11A2

Ensembl ID: ENSG00000204248

Description: collagen type XI alpha 2 chain

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: 23.9802
    Cell Significance Index: -3.7300
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 15.0014
    Cell Significance Index: -3.8100
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 3.0253
    Cell Significance Index: -3.7300
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 2.6383
    Cell Significance Index: 161.7500
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 2.0653
    Cell Significance Index: 66.1500
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 1.6952
    Cell Significance Index: 14.0200
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 0.9503
    Cell Significance Index: -3.7500
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.6554
    Cell Significance Index: 124.7200
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.4653
    Cell Significance Index: 46.0300
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.4167
    Cell Significance Index: 376.2900
  • Cell Name: cytotoxic T cell (CL0000910)
    Fold Change: 0.3983
    Cell Significance Index: 5.8100
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 0.3244
    Cell Significance Index: -0.7100
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.3174
    Cell Significance Index: 36.9900
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: 0.2853
    Cell Significance Index: 4.0900
  • Cell Name: glomerular capillary endothelial cell (CL1001005)
    Fold Change: 0.2308
    Cell Significance Index: 0.8600
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 0.2259
    Cell Significance Index: 2.0500
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.2239
    Cell Significance Index: 36.4100
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.2150
    Cell Significance Index: 23.3900
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.1254
    Cell Significance Index: 24.8900
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.1202
    Cell Significance Index: 24.1200
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.1152
    Cell Significance Index: 14.7700
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.1136
    Cell Significance Index: 7.8600
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.1057
    Cell Significance Index: 2.2900
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0849
    Cell Significance Index: 3.8500
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: 0.0755
    Cell Significance Index: 47.1300
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.0598
    Cell Significance Index: 3.5900
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0552
    Cell Significance Index: 1.5900
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0531
    Cell Significance Index: 19.0400
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.0511
    Cell Significance Index: 2.2600
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.0483
    Cell Significance Index: 1.0100
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.0443
    Cell Significance Index: 2.7900
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.0366
    Cell Significance Index: 1.3900
  • Cell Name: chondroblast (CL0000058)
    Fold Change: 0.0307
    Cell Significance Index: 0.1800
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.0258
    Cell Significance Index: 0.4100
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0139
    Cell Significance Index: 9.6300
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.0125
    Cell Significance Index: 0.2600
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0048
    Cell Significance Index: 0.1700
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0044
    Cell Significance Index: 8.1900
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0034
    Cell Significance Index: 1.4900
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0011
    Cell Significance Index: 0.1900
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: 0.0011
    Cell Significance Index: 0.1200
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0004
    Cell Significance Index: 0.8000
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0016
    Cell Significance Index: -0.8800
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0022
    Cell Significance Index: -3.4000
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0029
    Cell Significance Index: -2.1800
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0029
    Cell Significance Index: -3.9000
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0037
    Cell Significance Index: -2.0400
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.0037
    Cell Significance Index: -0.0500
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0054
    Cell Significance Index: -4.0500
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0055
    Cell Significance Index: -4.0000
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0057
    Cell Significance Index: -3.6100
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0062
    Cell Significance Index: -1.3100
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0064
    Cell Significance Index: -0.1600
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0070
    Cell Significance Index: -0.3700
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0072
    Cell Significance Index: -3.2900
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0100
    Cell Significance Index: -1.7100
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0107
    Cell Significance Index: -0.5000
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0120
    Cell Significance Index: -1.3800
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.0120
    Cell Significance Index: -0.1300
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0129
    Cell Significance Index: -1.8800
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0139
    Cell Significance Index: -0.7200
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0142
    Cell Significance Index: -4.1000
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0152
    Cell Significance Index: -0.7700
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0170
    Cell Significance Index: -2.3300
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0174
    Cell Significance Index: -0.3700
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.0181
    Cell Significance Index: -0.3100
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0188
    Cell Significance Index: -2.3100
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.0202
    Cell Significance Index: -0.2500
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0270
    Cell Significance Index: -1.1000
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0282
    Cell Significance Index: -3.6400
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0304
    Cell Significance Index: -3.5800
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0330
    Cell Significance Index: -3.3700
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0357
    Cell Significance Index: -3.7200
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.0377
    Cell Significance Index: -0.8000
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0392
    Cell Significance Index: -3.0100
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0492
    Cell Significance Index: -3.4800
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0538
    Cell Significance Index: -3.0200
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0540
    Cell Significance Index: -1.7200
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0569
    Cell Significance Index: -4.2400
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.0579
    Cell Significance Index: -1.2500
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0596
    Cell Significance Index: -3.8500
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0599
    Cell Significance Index: -1.9600
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.0624
    Cell Significance Index: -0.9400
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: -0.0627
    Cell Significance Index: -0.8800
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0645
    Cell Significance Index: -2.2600
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0656
    Cell Significance Index: -3.0800
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.0658
    Cell Significance Index: -1.6400
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.0662
    Cell Significance Index: -1.3300
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.0698
    Cell Significance Index: -1.3800
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0716
    Cell Significance Index: -3.7300
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.0818
    Cell Significance Index: -2.0400
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: -0.0848
    Cell Significance Index: -1.1900
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.0886
    Cell Significance Index: -1.8500
  • Cell Name: epithelial cell of uterus (CL0002149)
    Fold Change: -0.0894
    Cell Significance Index: -1.2400
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.0929
    Cell Significance Index: -3.4100
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.0966
    Cell Significance Index: -1.6700
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.1007
    Cell Significance Index: -3.5000
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.1041
    Cell Significance Index: -3.0700
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: -0.1041
    Cell Significance Index: -0.9900
  • Cell Name: L2/3 intratelencephalic projecting glutamatergic neuron (CL4030059)
    Fold Change: -0.1043
    Cell Significance Index: -1.3900

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** COL11A2 is a single-copy gene that is widely expressed in various tissues, including cartilage, bone, and connective tissue. The protein product of this gene, collagen alpha-2(XI) chain, is a minor component of collagen type XI, which is composed of three alpha chains (α1, α2, and α3). COL11A2 is involved in the assembly and organization of collagen fibrils, which are essential for maintaining tissue structure and function. The gene's expression is regulated by various transcription factors, including those involved in cartilage development and skeletal system formation. **Pathways and Functions** COL11A2 is involved in several key pathways, including: 1. **Assembly of collagen fibrils and other multimeric structures**: COL11A2 plays a crucial role in the assembly of collagen fibrils, which are essential for maintaining tissue structure and function. 2. **Cartilage development**: COL11A2 is involved in the development and maintenance of cartilage tissue, which is essential for joint health and mobility. 3. **Collagen biosynthesis and modifying enzymes**: COL11A2 is involved in the biosynthesis and modification of collagen, which is essential for maintaining tissue structure and function. 4. **Extracellular matrix organization**: COL11A2 plays a role in the organization and structure of the extracellular matrix, which is essential for maintaining tissue function. **Clinical Significance** Mutations in COL11A2 have been associated with several genetic disorders, including: 1. **Osteogenesis imperfecta**: A condition characterized by fragile bones and skeletal deformities. 2. **Spondyloepiphyseal dysplasia**: A condition characterized by short stature, skeletal deformities, and joint problems. 3. **Dyschondrosteosis**: A condition characterized by short stature, skeletal deformities, and joint problems. In addition to its role in genetic disorders, COL11A2 has also been implicated in various diseases, including: 1. **Arthritis**: COL11A2 has been implicated in the development and progression of arthritis, particularly in relation to cartilage degradation and joint inflammation. 2. **Cancer**: COL11A2 has been implicated in the development and progression of certain types of cancer, including breast and lung cancer. Overall, COL11A2 is a critical gene that plays a vital role in maintaining tissue structure and function, and its dysregulation has been implicated in various genetic and acquired disorders.

Genular Protein ID: 2104372708

Symbol: COBA2_HUMAN

Name: Collagen alpha-2(XI) chain

UniProtKB Accession Codes:

P13942 A6NLX2 E7ER90 Q07751 Q13271 Q13272 Q13273 Q5JP94 Q5SUI8 Q7Z6C3 Q99866 Q9UIP9

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CTD 1 ChEBI 5 ChEMBL 1 ChiTaRS 1 ComplexPortal 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 18 Ensembl 8 ExpressionAtlas 1 GO 16 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MIM 11 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OpenTargets 1 Orphanet 5 OrthoDB 1 PANTHER 2 PIR 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 9 RNAct 1 Reactome 6 RefSeq 4 SIGNOR 1 SMART 3 STRING 1 SUPFAM 1 SignaLink 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 7559422

Title: The human COL11A2 gene structure indicates that the gene has not evolved with the genes for the major fibrillar collagens.

PubMed ID: 7559422

DOI: 10.1074/jbc.270.39.22873

PubMed ID: 14574404

Title: The DNA sequence and analysis of human chromosome 6.

PubMed ID: 14574404

DOI: 10.1038/nature02055

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

PubMed ID: 8838804

Title: The human alpha 2(XI) collagen gene (COL11A2): completion of coding information, identification of the promoter sequence, and precise localization within the major histocompatibility complex reveal overlap with the KE5 gene.

PubMed ID: 8838804

DOI: 10.1006/geno.1996.0135

PubMed ID: 8325374

Title: Molecular cloning of PARP (proline/arginine-rich protein) from human cartilage and subsequent demonstration that PARP is a fragment of the NH2-terminal domain of the collagen alpha 2(XI) chain.

PubMed ID: 8325374

DOI: 10.1016/0014-5793(93)81753-m

PubMed ID: 2760050

Title: The human alpha 2(XI) collagen (COL11A2) chain. Molecular cloning of cDNA and genomic DNA reveals characteristics of a fibrillar collagen with differences in genomic organization.

PubMed ID: 2760050

DOI: 10.1016/s0021-9258(18)80086-2

PubMed ID: 7721876

Title: Alternative mRNA processing occurs in the variable region of the pro-alpha 1(XI) and pro-alpha 2(XI) collagen chains.

PubMed ID: 7721876

DOI: 10.1074/jbc.270.16.9486

PubMed ID: 10677296

Title: Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene.

PubMed ID: 10677296

DOI: 10.1086/302750

PubMed ID: 9101290

Title: Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels.

PubMed ID: 9101290

DOI: 10.1002/(sici)1098-1004(1997)9:4<300::aid-humu2>3.0.co;2-9

PubMed ID: 22246659

Title: Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2.

PubMed ID: 22246659

DOI: 10.1002/ajmg.a.34406

PubMed ID: 7859284

Title: Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus.

PubMed ID: 7859284

DOI: 10.1016/0092-8674(95)90493-x

PubMed ID: 9585596

Title: Genetic mapping of ossification of the posterior longitudinal ligament of the spine.

PubMed ID: 9585596

DOI: 10.1086/301868

PubMed ID: 9805126

Title: Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymueller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome).

PubMed ID: 9805126

DOI: 10.1002/(sici)1096-8628(19981102)80:2<115::aid-ajmg5>3.0.co;2-o

PubMed ID: 9506662

Title: Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha-2(XI) chain of type XI collagen.

PubMed ID: 9506662

DOI: 10.1016/s0022-3476(98)70466-4

PubMed ID: 10581026

Title: Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13).

PubMed ID: 10581026

DOI: 10.1038/70516

PubMed ID: 16033917

Title: Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus.

PubMed ID: 16033917

DOI: 10.1136/jmg.2005.032615

PubMed ID: 22938506

Title: Targeted massive parallel sequencing: the effective detection of novel causative mutations associated with hearing loss in small families.

PubMed ID: 22938506

DOI: 10.1186/1750-1172-7-60

PubMed ID: 25633957

Title: Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53.

PubMed ID: 25633957

DOI: 10.1007/s00438-015-0995-9

Sequence Information:

  • Length: 1736
  • Mass: 171791
  • Checksum: D687B7AAD6A7774C
  • Sequence:
    • MERCSRCHRL LLLLPLVLGL SAAPGWAGAP PVDVLRALRF PSLPDGVRRA KGICPADVAY 
RVARPAQLSA PTRQLFPGGF PKDFSLLTVV RTRPGLQAPL LTLYSAQGVR QLGLELGRPV 
RFLYEDQTGR PQPPSQPVFR GLSLADGKWH RVAVAVKGQS VTLIVDCKKR VTRPLPRSAR 
PVLDTHGVII FGARILDEEV FEGDVQELAI VPGVQAAYES CEQKELECEG GQRERPQNQQ 
PHRAQRSPQQ QPSRLHRPQN QEPQSQPTES LYYDYEPPYY DVMTTGTTPD YQDPTPGEEE 
EILESSLLPP LEEEQTDLQV PPTADRFQAE EYGEGGTDPP EGPYDYTYGY GDDYREETEL 
GPALSAETAH SGAAAHGPRG LKGEKGEPAV LEPGMLVEGP PGPEGPAGLI GPPGIQGNPG 
PVGDPGERGP PGRAGLPGSD GAPGPPGTSL MLPFRFGSGG GDKGPVVAAQ EAQAQAILQQ 
ARLALRGPPG PMGYTGRPGP LGQPGSPGLK GESGDLGPQG PRGPQGLTGP PGKAGRRGRA 
GADGARGMPG DPGVKGDRGF DGLPGLPGEK GHRGDTGAQG LPGPPGEDGE RGDDGEIGPR 
GLPGESGPRG LLGPKGPPGI PGPPGVRGMD GPQGPKGSLG PQGEPGPPGQ QGTPGTQGLP 
GPQGAIGPHG EKGPQGKPGL PGMPGSDGPP GHPGKEGPPG TKGNQGPSGP QGPLGYPGPR 
GVKGVDGIRG LKGHKGEKGE DGFPGFKGDI GVKGDRGEVG VPGSRGEDGP EGPKGRTGPT 
GDPGPPGLMG EKGKLGVPGL PGYPGRQGPK GSLGFPGFPG ASGEKGARGL SGKSGPRGER 
GPTGPRGQRG PRGATGKSGA KGTSGGDGPH GPPGERGLPG PQGPNGFPGP KGPLGPPGKD 
GLPGHPGQRG EVGFQGKTGP PGPPGVVGPQ GAAGETGPMG ERGHPGPPGP PGEQGLPGTA 
GKEGTKGDPG PPGAPGKDGP AGLRGFPGER GLPGTAGGPG LKGNEGPSGP PGPAGSPGER 
GAAGSGGPIG PPGRPGPQGP PGAAGEKGVP GEKGPIGPTG RDGVQGPVGL PGPAGPPGVA 
GEDGDKGEVG DPGQKGTKGN KGEHGPPGPP GPIGPVGQPG AAGADGEPGA RGPQGHFGAK 
GDEGTRGFNG PPGPIGLQGL PGPSGEKGET GDVGPMGPPG PPGPRGPAGP NGADGPQGPP 
GGVGNLGPPG EKGEPGESGS PGIQGEPGVK GPRGERGEKG ESGQPGEPGP PGPKGPTGDD 
GPKGNPGPVG FPGDPGPPGE GGPRGQDGAK GDRGEDGEPG QPGSPGPTGE NGPPGPLGKR 
GPAGSPGSEG RQGGKGAKGD PGAIGAPGKT GPVGPAGPAG KPGPDGLRGL PGSVGQQGRP 
GATGQAGPPG PVGPPGLPGL RGDAGAKGEK GHPGLIGLIG PPGEQGEKGD RGLPGPQGSP 
GQKGEMGIPG ASGPIGPGGP PGLPGPAGPK GAKGATGPGG PKGEKGVQGP PGHPGPPGEV 
IQPLPIQMPK KTRRSVDGSR LMQEDEAIPT GGAPGSPGGL EEIFGSLDSL REEIEQMRRP 
TGTQDSPART CQDLKLCHPE LPDGEYWVDP NQGCARDAFR VFCNFTAGGE TCVTPRDDVT 
QFSYVDSEGS PVGVVQLTFL RLLSVSAHQD VSYPCSGAAR DGPLRLRGAN EDELSPETSP 
YVKEFRDGCQ TQQGRTVLEV RTPVLEQLPV LDASFSDLGA PPRRGGVLLG PVCFMG

Genular Protein ID: 910218105

Symbol: A0A0G2JL78_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A0G2JL78

Database IDs:

ARBA 4 CDD 1 CTD 1 DisGeNET 1 EMBL 2 Ensembl 4 GO 3 Gene3D 2 HGNC 1 InterPro 6 NCBI Taxonomy 1 PANTHER 2 PROSITE 2 PeptideAtlas 1 Pfam 3 Proteomes 2 ProteomicsDB 1 RefSeq 1 SAM 2 SMART 3 SUPFAM 1

Citations:

PubMed ID: 11181995

Title: The sequence of the human genome.

PubMed ID: 11181995

DOI: 10.1126/science.1058040

Sequence Information:

  • Length: 1629
  • Mass: 159879
  • Checksum: B5967544D70A0E03
  • Sequence:
    • MERCSRCHRL LLLLPLVLGL SAAPGWAGAP PVDVLRALRF PSLPDGVRRA KGICPADVAY 
RVARPAQLSA PTRQLFPGGF PKDFSLLTVV RTRPGLQAPL LTLYSAQGVR QLGLELGRPV 
RFLYEDQTGR PQPPSQPVFR GLSLADGKWH RVAVAVKGQS VTLIVDCKKR VTRPLPRSAR 
PVLDTHGVII FGARILDEEV FEGDVQELAI VPGVQAAYES CEQKELECEG GQRERPQNQQ 
PHRAQRSPQQ QPSRLHRPQN QEPQSQAAHG PRGLKGEKGE PAVLEPGMLV EGPPGPEGPA 
GLIGPPGIQG NPGPVGDPGE RGPPGRAGLP GSDGAPGPPG TSLMLPFRFG SGGGDKGPVV 
AAQEAQAQAI LQQARLALRG PPGPMGYTGR PGPLGQPGSP GLKGESGDLG PQGPRGPQGL 
TGPPGKAGRR GRAGADGARG MPGDPGVKGD RGFDGLPGLP GEKGHRGDTG AQGLPGPPGE 
DGERGDDGEI GPRGLPGESG PRGLLGPKGP PGIPGPPGVR GMDGPQGPKG SLGPQGEPGP 
PGQQGTPGTQ GLPGPQGAIG PHGEKGPQGK PGLPGMPGSD GPPGHPGKEG PPGTKGNQGP 
SGPQGPLGYP GPRGVKGVDG IRGLKGHKGE KGEDGFPGFK GDIGVKGDRG EVGVPGSRGE 
DGPEGPKGRT GPTGDPGPPG LMGEKGKLGV PGLPGYPGRQ GPKGSLGFPG FPGASGEKGA 
RGLSGKSGPR GERGPTGPRG QRGPRGATGK SGAKGTSGGD GPHGPPGERG LPGPQGPNGF 
PGPKGPPGPP GKDGLPGHPG QRGEVGFQGK TGPPGPPGVV GPQGAAGETG PMGERGHPGP 
PGPPGEQGLP GTAGKEGTKG DPGPPGAPGK DGPAGLRGFP GERGLPGTAG GPGLKGNEGP 
SGPPGPAGSP GERGAAGSGG PIGPPGRPGP QGPPGAAGEK GVPGEKGPIG PTGRDGVQGP 
VGLPGPAGPP GVAGEDGDKG EVGDPGQKGT KGNKGEHGPP GPPGPIGPVG QPGAAGADGE 
PGARGPQGHF GAKGDEGTRG FNGPPGPIGL QGLPGPSGEK GETGDVGPMG PPGPPGPRGP 
AGPNGADGPQ GPPGGVGNLG PPGEKGEPGE SGSPGIQGEP GVKGPRGERG EKGESGQPGE 
PGPPGPKGPT GDDGPKGNPG PVGFPGDPGP PGEGGPRGQD GAKGDRGEDG EPGQPGSPGP 
TGENGPPGPL GKRGPAGSPG SEGRQGGKGA KGDPGAIGAP GKTGPVGPAG PAGKPGPDGL 
RGLPGSVGQQ GRPGATGQAG PPGPVGPPGL PGLRGDAGAK GEKGHPGLIG LIGPPGEQGE 
KGDRGLPGPQ GSPGQKGEMG IPGASGPIGP GGPPGLPGPA GPKGAKGATG PGGPKGEKGV 
QGPPGHPGPP GEVIQPLPIQ MPKKTRRSVD GSRLMQEDEA IPTGGAPGSP GGLEEIFGSL 
DSLREEIEQM RRPTGTQDSP ARTCQDLKLC HPELPDGEYW VDPNQGCARD AFRVFCNFTA 
GGETCVTPRD DVTQFSYVDS EGSPVGVVQL TFLRLLSVSA HQDVSYPCSG AARDGPLRLR 
GANEDELSPE TSPYVKEFRD GCQTQQGRTV LEVRTPVLEQ LPVLDASFSD LGAPPRRGGV 
LLGPVCFMG

Genular Protein ID: 3046167125

Symbol: Q4VXY6_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q4VXY6

Database IDs:

ARBA 4 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 3 Ensembl 5 GO 4 Gene3D 2 GeneTree 1 HGNC 1 InterPro 6 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 2 PeptideAtlas 1 Pfam 3 Proteomes 2 ProteomicsDB 1 RefSeq 1 SAM 2 SMART 3 SUPFAM 1 TreeFam 1 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 14574404

Title: The DNA sequence and analysis of human chromosome 6.

PubMed ID: 14574404

DOI: 10.1038/nature02055

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

Sequence Information:

  • Length: 1650
  • Mass: 162185
  • Checksum: 35531E80812CA213
  • Sequence:
    • MERCSRCHRL LLLLPLVLGL SAAPGWAGAP PVDVLRALRF PSLPDGVRRA KGICPADVAY 
RVARPAQLSA PTRQLFPGGF PKDFSLLTVV RTRPGLQAPL LTLYSAQGVR QLGLELGRPV 
RFLYEDQTGR PQPPSQPVFR GLSLADGKWH RVAVAVKGQS VTLIVDCKKR VTRPLPRSAR 
PVLDTHGVII FGARILDEEV FEGDVQELAI VPGVQAAYES CEQKELECEG GQRERPQNQQ 
PHRAQRSPQQ QPSRLHRPQN QEPQSQDPTP GEEEEILESS LLPPLEEAAH GPRGLKGEKG 
EPAVLEPGML VEGPPGPEGP AGLIGPPGIQ GNPGPVGDPG ERGPPGRAGL PGSDGAPGPP 
GTSLMLPFRF GSGGGDKGPV VAAQEAQAQA ILQQARLALR GPPGPMGYTG RPGPLGQPGS 
PGLKGESGDL GPQGPRGPQG LTGPPGKAGR RGRAGADGAR GMPGDPGVKG DRGFDGLPGL 
PGEKGHRGDT GAQGLPGPPG EDGERGDDGE IGPRGLPGES GPRGLLGPKG PPGIPGPPGV 
RGMDGPQGPK GSLGPQGEPG PPGQQGTPGT QGLPGPQGAI GPHGEKGPQG KPGLPGMPGS 
DGPPGHPGKE GPPGTKGNQG PSGPQGPLGY PGPRGVKGVD GIRGLKGHKG EKGEDGFPGF 
KGDIGVKGDR GEVGVPGSRG EDGPEGPKGR TGPTGDPGPP GLMGEKGKLG VPGLPGYPGR 
QGPKGSLGFP GFPGASGEKG ARGLSGKSGP RGERGPTGPR GQRGPRGATG KSGAKGTSGG 
DGPHGPPGER GLPGPQGPNG FPGPKGPPGP PGKDGLPGHP GQRGEVGFQG KTGPPGPPGV 
VGPQGAAGET GPMGERGHPG PPGPPGEQGL PGTAGKEGTK GDPGPPGAPG KDGPAGLRGF 
PGERGLPGTA GGPGLKGNEG PSGPPGPAGS PGERGAAGSG GPIGPPGRPG PQGPPGAAGE 
KGVPGEKGPI GPTGRDGVQG PVGLPGPAGP PGVAGEDGDK GEVGDPGQKG TKGNKGEHGP 
PGPPGPIGPV GQPGAAGADG EPGARGPQGH FGAKGDEGTR GFNGPPGPIG LQGLPGPSGE 
KGETGDVGPM GPPGPPGPRG PAGPNGADGP QGPPGGVGNL GPPGEKGEPG ESGSPGIQGE 
PGVKGPRGER GEKGESGQPG EPGPPGPKGP TGDDGPKGNP GPVGFPGDPG PPGEGGPRGQ 
DGAKGDRGED GEPGQPGSPG PTGENGPPGP LGKRGPAGSP GSEGRQGGKG AKGDPGAIGA 
PGKTGPVGPA GPAGKPGPDG LRGLPGSVGQ QGRPGATGQA GPPGPVGPPG LPGLRGDAGA 
KGEKGHPGLI GLIGPPGEQG EKGDRGLPGP QGSPGQKGEM GIPGASGPIG PGGPPGLPGP 
AGPKGAKGAT GPGGPKGEKG VQGPPGHPGP PGEVIQPLPI QMPKKTRRSV DGSRLMQEDE 
AIPTGGAPGS PGGLEEIFGS LDSLREEIEQ MRRPTGTQDS PARTCQDLKL CHPELPDGEY 
WVDPNQGCAR DAFRVFCNFT AGGETCVTPR DDVTQFSYVD SEGSPVGVVQ LTFLRLLSVS 
AHQDVSYPCS GAARDGPLRL RGANEDELSP ETSPYVKEFR DGCQTQQGRT VLEVRTPVLE 
QLPVLDASFS DLGAPPRRGG VLLGPVCFMG

Genular Protein ID: 316674255

Symbol: A0A0C4DFS1_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A0C4DFS1

Database IDs:

ARBA 4 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 9 Ensembl 3 GO 9 Gene3D 2 GeneTree 1 HGNC 1 HOGENOM 1 InterPro 6 KEGG 1 MANE-Select 1 NCBI Taxonomy 1 OMA 1 OrthoDB 1 PANTHER 2 PROSITE 2 PeptideAtlas 1 Pfam 3 Proteomes 2 ProteomicsDB 1 RefSeq 2 SAM 2 SMART 3 SUPFAM 1 VEuPathDB 1

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 11181995

Title: The sequence of the human genome.

PubMed ID: 11181995

DOI: 10.1126/science.1058040

PubMed ID: 14574404

Title: The DNA sequence and analysis of human chromosome 6.

PubMed ID: 14574404

DOI: 10.1038/nature02055

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

Sequence Information:

  • Length: 1736
  • Mass: 171775
  • Checksum: FD189666C51EBA60
  • Sequence:
    • MERCSRCHRL LLLLPLVLGL SAAPGWAGAP PVDVLRALRF PSLPDGVRRA KGICPADVAY 
RVARPAQLSA PTRQLFPGGF PKDFSLLTVV RTRPGLQAPL LTLYSAQGVR QLGLELGRPV 
RFLYEDQTGR PQPPSQPVFR GLSLADGKWH RVAVAVKGQS VTLIVDCKKR VTRPLPRSAR 
PVLDTHGVII FGARILDEEV FEGDVQELAI VPGVQAAYES CEQKELECEG GQRERPQNQQ 
PHRAQRSPQQ QPSRLHRPQN QEPQSQPTES LYYDYEPPYY DVMTTGTTPD YQDPTPGEEE 
EILESSLLPP LEEEQTDLQV PPTADRFQAE EYGEGGTDPP EGPYDYTYGY GDDYREETEL 
GPALSAETAH SGAAAHGPRG LKGEKGEPAV LEPGMLVEGP PGPEGPAGLI GPPGIQGNPG 
PVGDPGERGP PGRAGLPGSD GAPGPPGTSL MLPFRFGSGG GDKGPVVAAQ EAQAQAILQQ 
ARLALRGPPG PMGYTGRPGP LGQPGSPGLK GESGDLGPQG PRGPQGLTGP PGKAGRRGRA 
GADGARGMPG DPGVKGDRGF DGLPGLPGEK GHRGDTGAQG LPGPPGEDGE RGDDGEIGPR 
GLPGESGPRG LLGPKGPPGI PGPPGVRGMD GPQGPKGSLG PQGEPGPPGQ QGTPGTQGLP 
GPQGAIGPHG EKGPQGKPGL PGMPGSDGPP GHPGKEGPPG TKGNQGPSGP QGPLGYPGPR 
GVKGVDGIRG LKGHKGEKGE DGFPGFKGDI GVKGDRGEVG VPGSRGEDGP EGPKGRTGPT 
GDPGPPGLMG EKGKLGVPGL PGYPGRQGPK GSLGFPGFPG ASGEKGARGL SGKSGPRGER 
GPTGPRGQRG PRGATGKSGA KGTSGGDGPH GPPGERGLPG PQGPNGFPGP KGPPGPPGKD 
GLPGHPGQRG EVGFQGKTGP PGPPGVVGPQ GAAGETGPMG ERGHPGPPGP PGEQGLPGTA 
GKEGTKGDPG PPGAPGKDGP AGLRGFPGER GLPGTAGGPG LKGNEGPSGP PGPAGSPGER 
GAAGSGGPIG PPGRPGPQGP PGAAGEKGVP GEKGPIGPTG RDGVQGPVGL PGPAGPPGVA 
GEDGDKGEVG DPGQKGTKGN KGEHGPPGPP GPIGPVGQPG AAGADGEPGA RGPQGHFGAK 
GDEGTRGFNG PPGPIGLQGL PGPSGEKGET GDVGPMGPPG PPGPRGPAGP NGADGPQGPP 
GGVGNLGPPG EKGEPGESGS PGIQGEPGVK GPRGERGEKG ESGQPGEPGP PGPKGPTGDD 
GPKGNPGPVG FPGDPGPPGE GGPRGQDGAK GDRGEDGEPG QPGSPGPTGE NGPPGPLGKR 
GPAGSPGSEG RQGGKGAKGD PGAIGAPGKT GPVGPAGPAG KPGPDGLRGL PGSVGQQGRP 
GATGQAGPPG PVGPPGLPGL RGDAGAKGEK GHPGLIGLIG PPGEQGEKGD RGLPGPQGSP 
GQKGEMGIPG ASGPIGPGGP PGLPGPAGPK GAKGATGPGG PKGEKGVQGP PGHPGPPGEV 
IQPLPIQMPK KTRRSVDGSR LMQEDEAIPT GGAPGSPGGL EEIFGSLDSL REEIEQMRRP 
TGTQDSPART CQDLKLCHPE LPDGEYWVDP NQGCARDAFR VFCNFTAGGE TCVTPRDDVT 
QFSYVDSEGS PVGVVQLTFL RLLSVSAHQD VSYPCSGAAR DGPLRLRGAN EDELSPETSP 
YVKEFRDGCQ TQQGRTVLEV RTPVLEQLPV LDASFSDLGA PPRRGGVLLG PVCFMG

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.