GAS2
Growth arrest-specific protein 2
Also known as: GAS2_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O43903
- Gene
- GAS2
- Ensembl
- ENSG00000148935
- Chromosome
- 11
- Canonical length
- 313 aa
- Protein class
- Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Nucleoli,Plasma membrane,Cytosol
OverviewNCBI Gene
The protein encoded by this gene is a caspase-3 substrate that plays a role in regulating microfilament and cell shape changes during apoptosis. It can also modulate cell susceptibility to p53-dependent apoptosis by inhibiting calpain activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2017]
Canonical amino-acid sequenceUniProt
313 residues, UniProt reviewed canonical sequence.
>O43903|GAS2
1 MCTALSPKVR SGPGLSDMHQ YSQWLASRHE ANLLPMKEDL ALWLTNLLGK EITAETFMEK
61 LDNGALLCQL AETMQEKFKE SMDANKPTKN LPLKKIPCKT SAPSGSFFAR DNTANFLSWC
121 RDLGVDETCL FESEGLVLHK QPREVCLCLL ELGRIAARYG VEPPGLIKLE KEIEQEETLS
181 APSPSPSPSS KSSGKKSTGN LLDDAVKRIS EDPPCKCPNK FCVERLSQGR YRVGEKILFI
241 RMLHNKHVMV RVGGGWETFA GYLLKHDPCR MLQISRVDGK TSPIQSKSPT LKDMNPDNYL
301 VVSASYKAKK EIKLocalizationUniProt · AlphaFold · HPA
Whether an antibody against GAS2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.37
- Highest tissue expression
- 37 nTPM
Expression across tissuesHPA
Tissue
- liver: 37 nTPM
- spinal cord: 10 nTPM
- pancreas: 9.2 nTPM
- thymus: 7.7 nTPM
- kidney: 5 nTPM
- midbrain: 4.2 nTPM
Single-cell type
- myonuclei: 745 nCPM
- gonadotrophs: 461 nCPM
- hepatocytes: 291 nCPM
- cardiomyocytes: 227 nCPM
- retinal ganglion cells: 174 nCPM
- lactotrophs: 127 nCPM
Immune cell
- MAIT T-cell: 0.2 nTPM
- naive CD4 T-cell: 0.2 nTPM
- memory B-cell: 0.1 nTPM
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
Brain region
- midbrain: 24 nTPM
- medulla oblongata: 21 nTPM
- pons: 21 nTPM
- thalamus: 21 nTPM
- white matter: 21 nTPM
- cerebral cortex: 20 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about GAS2.
Disease | AllUniProt
Conditions GAS2 is implicated in, by any mechanism.
- Deafness, autosomal recessive, 125 (DFNB125) MIM:620877
Disease | GeneticClinVar
2 pathogenic / likely-pathogenic of 42 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Hearing loss, autosomal recessive 125
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.81
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.44
- DepMap mean gene effect
- 0
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- actin crosslink formation
- antral ovarian follicle growth
- apoptotic process
- basement membrane organization
- initiation of primordial ovarian follicle growth
- ovulation
- regulation of cell cycle
- regulation of cell shape
- regulation of Notch signaling pathway
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads GAS2 as an antibody target. Whether an autoantibody or antibody against GAS2 could matter depends on whether native GAS2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
GAS2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label GAS2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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