Details for: ACTN3

Gene ID: 89

Symbol: ACTN3

Ensembl ID: ENSG00000248746

Description: actinin alpha 3

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: transit amplifying cell of colon (CL0009011)
    Fold Change: 3.8366
    Cell Significance Index: 122.8800
  • Cell Name: neuroendocrine cell (CL0000165)
    Fold Change: 1.8564
    Cell Significance Index: 23.5100
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 1.8179
    Cell Significance Index: 39.3900
  • Cell Name: type II muscle cell (CL0002212)
    Fold Change: 1.2674
    Cell Significance Index: 20.4500
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 1.1731
    Cell Significance Index: -1.1200
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.6681
    Cell Significance Index: 40.1100
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.6632
    Cell Significance Index: 107.8600
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.5768
    Cell Significance Index: 12.2900
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.5144
    Cell Significance Index: 50.8900
  • Cell Name: retinal blood vessel endothelial cell (CL0002585)
    Fold Change: 0.4768
    Cell Significance Index: 6.1600
  • Cell Name: secondary lymphoid organ macrophage (CL0000867)
    Fold Change: 0.4427
    Cell Significance Index: 3.2500
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.3455
    Cell Significance Index: 8.8800
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.3279
    Cell Significance Index: 62.4000
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.2506
    Cell Significance Index: 27.2600
  • Cell Name: M cell of gut (CL0000682)
    Fold Change: 0.2280
    Cell Significance Index: 1.9000
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.1507
    Cell Significance Index: 3.7600
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 0.1400
    Cell Significance Index: 1.1900
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: 0.1217
    Cell Significance Index: 2.9700
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.1131
    Cell Significance Index: 7.8200
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.0744
    Cell Significance Index: 1.5900
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.0681
    Cell Significance Index: 1.0800
  • Cell Name: myometrial cell (CL0002366)
    Fold Change: 0.0634
    Cell Significance Index: 0.7300
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.0537
    Cell Significance Index: 0.9200
  • Cell Name: slow muscle cell (CL0000189)
    Fold Change: 0.0488
    Cell Significance Index: 0.7300
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0369
    Cell Significance Index: 6.6500
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0360
    Cell Significance Index: 1.6300
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 0.0322
    Cell Significance Index: 0.2500
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.0217
    Cell Significance Index: 0.4500
  • Cell Name: common lymphoid progenitor (CL0000051)
    Fold Change: 0.0187
    Cell Significance Index: 0.1900
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 0.0177
    Cell Significance Index: 0.2200
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0162
    Cell Significance Index: 0.5700
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0148
    Cell Significance Index: 0.3700
  • Cell Name: thymocyte (CL0000893)
    Fold Change: 0.0142
    Cell Significance Index: 0.1800
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0108
    Cell Significance Index: 2.1700
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0083
    Cell Significance Index: 0.2400
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0067
    Cell Significance Index: 0.8200
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0066
    Cell Significance Index: 2.3700
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.0063
    Cell Significance Index: 0.7400
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: 0.0056
    Cell Significance Index: 0.0800
  • Cell Name: tongue muscle cell (CL0002673)
    Fold Change: 0.0053
    Cell Significance Index: 0.0400
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.0041
    Cell Significance Index: 0.2100
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0027
    Cell Significance Index: 0.5300
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.0022
    Cell Significance Index: 0.0200
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.0022
    Cell Significance Index: 0.0600
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 0.0018
    Cell Significance Index: 0.0300
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.0017
    Cell Significance Index: 0.2500
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0006
    Cell Significance Index: 0.8500
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0006
    Cell Significance Index: 0.7800
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0003
    Cell Significance Index: 0.6500
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.0001
    Cell Significance Index: 0.0700
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0004
    Cell Significance Index: -0.7300
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0011
    Cell Significance Index: -0.7200
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0012
    Cell Significance Index: -0.8700
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0016
    Cell Significance Index: -0.7400
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0018
    Cell Significance Index: -1.0100
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: -0.0026
    Cell Significance Index: -0.0300
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0038
    Cell Significance Index: -1.0900
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0040
    Cell Significance Index: -0.6800
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0050
    Cell Significance Index: -1.0600
  • Cell Name: endocrine cell (CL0000163)
    Fold Change: -0.0058
    Cell Significance Index: -0.0700
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0058
    Cell Significance Index: -0.6600
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0062
    Cell Significance Index: -0.8500
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: -0.0076
    Cell Significance Index: -0.1000
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0083
    Cell Significance Index: -0.5600
  • Cell Name: cell of skeletal muscle (CL0000188)
    Fold Change: -0.0094
    Cell Significance Index: -0.1200
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0096
    Cell Significance Index: -1.0000
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: -0.0107
    Cell Significance Index: -0.1500
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0108
    Cell Significance Index: -1.1000
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.0117
    Cell Significance Index: -0.3700
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0128
    Cell Significance Index: -0.5200
  • Cell Name: fast muscle cell (CL0000190)
    Fold Change: -0.0130
    Cell Significance Index: -0.1700
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0132
    Cell Significance Index: -0.8100
  • Cell Name: cytotoxic T cell (CL0000910)
    Fold Change: -0.0151
    Cell Significance Index: -0.2200
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.0151
    Cell Significance Index: -0.3300
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0152
    Cell Significance Index: -0.7200
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.0154
    Cell Significance Index: -0.3000
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0155
    Cell Significance Index: -1.1900
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0172
    Cell Significance Index: -0.7600
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0180
    Cell Significance Index: -1.0100
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0192
    Cell Significance Index: -1.0000
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.0192
    Cell Significance Index: -0.2900
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.0202
    Cell Significance Index: -0.4900
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0204
    Cell Significance Index: -0.6500
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0206
    Cell Significance Index: -0.7200
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0217
    Cell Significance Index: -0.7100
  • Cell Name: decidual cell (CL2000002)
    Fold Change: -0.0218
    Cell Significance Index: -0.3500
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.0227
    Cell Significance Index: -0.7900
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0228
    Cell Significance Index: -0.6200
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0230
    Cell Significance Index: -0.8700
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.0237
    Cell Significance Index: -0.3500
  • Cell Name: hematopoietic multipotent progenitor cell (CL0000837)
    Fold Change: -0.0240
    Cell Significance Index: -0.2900
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0242
    Cell Significance Index: -1.2700
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.0254
    Cell Significance Index: -0.5400
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.0259
    Cell Significance Index: -0.7400
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.0269
    Cell Significance Index: -0.6700
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0275
    Cell Significance Index: -0.4600
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.0289
    Cell Significance Index: -0.5800
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: -0.0307
    Cell Significance Index: -0.4400
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: -0.0307
    Cell Significance Index: -0.5300
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.0308
    Cell Significance Index: -0.4200

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** ACTN3 is a member of the actinin family of proteins, which are involved in maintaining the structural integrity of the cytoskeleton. This gene encodes a protein that is specifically localized to the Z-disc, a critical component of muscle fibers. The ACTN3 protein is known for its ability to bind to actin filaments, facilitating the organization and regulation of the cytoskeleton. Additionally, ACTN3 has been shown to interact with various signaling molecules, including integrins, which are essential for cell adhesion and signaling. **Pathways and Functions** ACTN3 is involved in numerous signaling pathways, including: 1. **Muscle contraction**: ACTN3 is essential for the regulation of muscle contraction, particularly in fast-twitch skeletal muscle fibers. 2. **Cell adhesion**: ACTN3 interacts with integrins, which are critical for cell adhesion and signaling. 3. **Bone mineralization**: ACTN3 has been shown to regulate bone mineralization, particularly in the context of bone maturation. 4. **Cell signaling**: ACTN3 interacts with various signaling molecules, including calcineurin and NFAT, which are involved in the regulation of muscle function and cell growth. 5. **Apoptosis**: ACTN3 has been implicated in the regulation of apoptotic processes, particularly in the context of muscle atrophy. **Clinical Significance** Dysregulation of ACTN3 has been associated with various diseases, including: 1. **Muscular dystrophy**: ACTN3 mutations have been linked to various forms of muscular dystrophy, including limb-girdle muscular dystrophy and Becker muscular dystrophy. 2. **Cardiovascular disorders**: ACTN3 has been implicated in the regulation of cardiac function and has been associated with various cardiovascular disorders, including heart failure and arrhythmias. 3. **Metabolic disorders**: ACTN3 has been shown to regulate glucose metabolism and has been implicated in the development of metabolic disorders, including type 2 diabetes. 4. **Cancer**: ACTN3 has been implicated in the regulation of cell growth and apoptosis, and has been associated with various types of cancer, including breast and colon cancer. In conclusion, ACTN3 is a critical gene that plays a central role in various cellular processes, including muscle contraction, cell adhesion, and signaling pathways. Its dysregulation has been associated with various diseases, highlighting the importance of this gene in maintaining physiological homeostasis. Further research is needed to fully understand the functional significance of ACTN3 and its role in various diseases.

Genular Protein ID: 1992642968

Symbol: ACTN3_HUMAN

Name: Alpha-actinin-3

UniProtKB Accession Codes:

Q08043 A6NP77 Q4KKV2

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 4 CTD 1 ChEBI 6 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 4 EMDB 1 Ensembl 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 37 Gene3D 3 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 8 KEGG 1 MANE-Select 1 MIM 2 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PDB 3 PDBsum 3 PIR 1 PRIDE 1 PRO 1 PROSITE 4 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 2 RefSeq 2 SMART 4 SMR 1 STRING 1 SUPFAM 3 SignaLink 1 SwissPalm 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 1339456

Title: Cloning and characterization of two human skeletal muscle alpha-actinin genes located on chromosomes 1 and 11.

PubMed ID: 1339456

DOI: 10.1016/s0021-9258(19)50420-3

PubMed ID: 16554811

Title: Human chromosome 11 DNA sequence and analysis including novel gene identification.

PubMed ID: 16554811

DOI: 10.1038/nature04632

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: 11440986

Title: Differential expression of the actin-binding proteins, alpha-actinin-2 and -3, in different species: implications for the evolution of functional redundancy.

PubMed ID: 11440986

DOI: 10.1093/hmg/10.13.1335

PubMed ID: 11171996

Title: Myozenin: an alpha-actinin- and gamma-filamin-binding protein of skeletal muscle Z lines.

PubMed ID: 11171996

DOI: 10.1073/pnas.98.4.1595

PubMed ID: 12879365

Title: ACTN3 genotype is associated with human elite athletic performance.

PubMed ID: 12879365

DOI: 10.1086/377590

PubMed ID: 15886711

Title: Mitochondrial DNA and ACTN3 genotypes in Finnish elite endurance and sprint athletes.

PubMed ID: 15886711

DOI: 10.1038/sj.ejhg.5201438

PubMed ID: 18043716

Title: The ACTN3 R577X nonsense allele is under-represented in elite-level strength athletes.

PubMed ID: 18043716

DOI: 10.1038/sj.ejhg.5201964

PubMed ID: 22223895

Title: Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features.

PubMed ID: 22223895

DOI: 10.1074/mcp.m111.015131

PubMed ID: 29706347

Title: The effect of ACTN3 gene doping on skeletal muscle performance.

PubMed ID: 29706347

DOI: 10.1016/j.ajhg.2018.03.009

PubMed ID: 15808860

Title: The crystal structure of the actin binding domain from alpha-actinin in its closed conformation: structural insight into phospholipid regulation of alpha-actinin.

PubMed ID: 15808860

DOI: 10.1016/j.jmb.2005.01.002

PubMed ID: 10192379

Title: A common nonsense mutation results in alpha-actinin-3 deficiency in the general population.

PubMed ID: 10192379

DOI: 10.1038/7675

PubMed ID: 33600773

Title: Loss of alpha-actinin-3 during human evolution provides superior cold resilience and muscle heat generation.

PubMed ID: 33600773

DOI: 10.1016/j.ajhg.2021.01.013

Sequence Information:

  • Length: 901
  • Mass: 103241
  • Checksum: C49B7885E7E1EDA7
  • Sequence:
    • MMMVMQPEGL GAGEGRFAGG GGGGEYMEQE EDWDRDLLLD PAWEKQQRKT FTAWCNSHLR 
KAGTQIENIE EDFRNGLKLM LLLEVISGER LPRPDKGKMR FHKIANVNKA LDFIASKGVK 
LVSIGAEEIV DGNLKMTLGM IWTIILRFAI QDISVEETSA KEGLLLWCQR KTAPYRNVNV 
QNFHTSWKDG LALCALIHRH RPDLIDYAKL RKDDPIGNLN TAFEVAEKYL DIPKMLDAED 
IVNTPKPDEK AIMTYVSCFY HAFAGAEQAE TAANRICKVL AVNQENEKLM EEYEKLASEL 
LEWIRRTVPW LENRVGEPSM SAMQRKLEDF RDYRRLHKPP RIQEKCQLEI NFNTLQTKLR 
LSHRPAFMPS EGKLVSDIAN AWRGLEQVEK GYEDWLLSEI RRLQRLQHLA EKFRQKASLH 
EAWTRGKEEM LSQRDYDSAL LQEVRALLRR HEAFESDLAA HQDRVEHIAA LAQELNELDY 
HEAASVNSRC QAICDQWDNL GTLTQKRRDA LERMEKLLET IDRLQLEFAR RAAPFNNWLD 
GAVEDLQDVW LVHSVEETQS LLTAHDQFKA TLPEADRERG AIMGIQGEIQ KICQTYGLRP 
CSTNPYITLS PQDINTKWDM VRKLVPSCDQ TLQEELARQQ VNERLRRQFA AQANAIGPWI 
QAKVEEVGRL AAGLAGSLEE QMAGLRQQEQ NIINYKTNID RLEGDHQLLQ ESLVFDNKHT 
VYSMEHIRVG WEQLLTSIAR TINEVENQVL TRDAKGLSQE QLNEFRASFN HFDRKQNGMM 
EPDDFRACLI SMGYDLGEVE FARIMTMVDP NAAGVVTFQA FIDFMTRETA ETDTTEQVVA 
SFKILAGDKN YITPEELRRE LPAKQAEYCI RRMVPYKGSG APAGALDYVA FSSALYGESD 
L

Genular Protein ID: 2684242458

Symbol: A0A087WSZ2_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A087WSZ2

Database IDs:

ARBA 4 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CDD 4 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 2 Ensembl 2 ExpressionAtlas 1 GO 3 Gene3D 3 GeneTree 1 HGNC 1 IntAct 1 InterPro 8 MassIVE 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PRIDE 1 PROSITE 5 PeptideAtlas 1 Pfam 3 Proteomes 2 ProteomicsDB 1 RefSeq 1 SAM 2 SMART 4 SMR 1 SUPFAM 3 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: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

PubMed ID: 16554811

Title: Human chromosome 11 DNA sequence and analysis including novel gene identification.

PubMed ID: 16554811

DOI: 10.1038/nature04632

Sequence Information:

  • Length: 944
  • Mass: 107629
  • Checksum: D8A7BE9FA569BD3D
  • Sequence:
    • MGIGLCVPPA RCWKRLTRSS RGQPLERPAA TIIIGLSIVE RSKQTQRGPV DFSRSHSAPA 
AEQECKPRIS AARSTPAPPS PAVPGFRTTP CQTFTAWCNS HLRKAGTQIE NIEEDFRNGL 
KLMLLLEVIS GERLPRPDKG KMRFHKIANV NKALDFIASK GVKLVSIGAE EIVDGNLKMT 
LGMIWTIILR FAIQDISVEE TSAKEGLLLW CQRKTAPYRN VNVQNFHTSW KDGLALCALI 
HRHRPDLIDY AKLRKDDPIG NLNTAFEVAE KYLDIPKMLD AEDIVNTPKP DEKAIMTYVS 
CFYHAFAGAE QAETAANRIC KVLAVNQENE KLMEEYEKLA SELLEWIRRT VPWLENRVGE 
PSMSAMQRKL EDFRDYRRLH KPPRIQEKCQ LEINFNTLQT KLRLSHRPAF MPSEGKLVSD 
IANAWRGLEQ VEKGYEDWLL SEIRRLQRLQ HLAEKFRQKA SLHEAWTRGK EEMLSQRDYD 
SALLQEVRAL LRRHEAFESD LAAHQDRVEH IAALAQELNE LDYHEAASVN SRCQAICDQW 
DNLGTLTQKR RDALERMEKL LETIDRLQLE FARRAAPFNN WLDGAVEDLQ DVWLVHSVEE 
TQSLLTAHDQ FKATLPEADR ERGAIMGIQG EIQKICQTYG LRPCSTNPYI TLSPQDINTK 
WDMVRKLVPS CDQTLQEELA RQQVNERLRR QFAAQANAIG PWIQAKVEEV GRLAAGLAGS 
LEEQMAGLRQ QEQNIINYKT NIDRLEGDHQ LLQESLVFDN KHTVYSMEHI RVGWEQLLTS 
IARTINEVEN QVLTRDAKGL SQEQLNEFRA SFNHFDRKQN GMMEPDDFRA CLISMGYDLG 
EVEFARIMTM VDPNAAGVVT FQAFIDFMTR ETAETDTTEQ VVASFKILAG DKNYITPEEL 
RRELPAKQAE YCIRRMVPYK GSGAPAGALD YVAFSSALYG ESDL

Genular Protein ID: 148560350

Symbol: B4DZQ2_HUMAN

Name: N/A

UniProtKB Accession Codes:

B4DZQ2

Database IDs:

ARBA 4 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 4 CTD 1 DNASU 1 DisGeNET 1 EMBL 2 GO 9 Gene3D 3 InterPro 8 KEGG 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 5 PeptideAtlas 1 Pfam 3 RefSeq 2 SAM 2 SMART 4 SUPFAM 3

Sequence Information:

  • Length: 944
  • Mass: 107654
  • Checksum: 481D5878716F7DAF
  • Sequence:
    • MGIGLCVPPA RCWKRLTRSS RGQPLERPAA TIIIGLSIVE RSKQTQRGPV DFSRSHSAPA 
AEQECKPRIS AARSTPAPPS PAVPGFRTTP CQTFTAWCNS HLRKAGTQIE NIEEDFRNGL 
KLMLLLEVIS GERLPRPDKG KMRFHKIANV NKALDFIASK GVKLVSIGAE EIVDGNLKMT 
LGMIWTIILR FAIQDISVEE TSAKEGLLLW CQRKTAPYRN VNVQNFHTSW KDGLALCALI 
HRHRPDLIDY AKLRKDDPIG NLNTAFEVAE KYLDIPKMLD AEDIVNTPKP DEKAIMTYVS 
CFYHAFAGAE QAETAANRIC KVLAVNQENE KLMEEYEKLA SELLEWIRRT VPWLENRVGE 
PSMSAMQRKL EDFRDYRRLH KPPRIQEKCQ LEINFNTLQT KLRLSHRPAF MPSEGKLVSD 
IANAWRGLEQ VEKGYEDWLL SEIRRLQRLQ HLAEKFRQKA SLHEAWTRGK EEMLSQRDYD 
SALLQEVRAL LRRHEAFESD LAAHQDRVEH IAALAQELNE LDYHEAASVN SRCQAICDQW 
DNLGTLTQKR RDALERMEKL LETIDQLQLE FARQAAPFNN WLDGAVEDLQ DVWLVHSVEE 
TQSLLTAHDQ FKATLPEADR ERGAIMGIQG EIQKICQTYG LRPCSTNPYI TLSPQDINTK 
WDMVRKLVPS RDQTLQEELA RQQVNERLRR QFAAQANAIG PWIQAKVEEV GRLAAGLAGS 
LEEQMAGLRQ QEQNIINYKT NIDRLEGDHQ LLQESLVFDN KHTVYSMEHI RVGWEQLLTS 
IARTINEVEN QVLTRDAKGL SQEQLNEFRA SFNHFDRKRN GMMEPDDFRA CLISMGYDLG 
EVEFARIMTM VDPNAAGVVT FQAFIDFMTR ETAETDTTEQ VVASFKILAG DKNYITPEEL 
RRELPAKQAE YCIRRMVPYK GSGAPAGALD YVAFSSALYG ESDL

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.