GAS2 (growth arrest specific 2)

Gene

• Entrez ID: 2620
• Gene name: Growth arrest specific 2
• Gene symbol: GAS2
• Synonyms (NCBI Gene): DFNB125, GAS-2
• Chromosome: 11
• Chromosome location: 11p14.3
• Summary: 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. Alternativ

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT029431	hsa-miR-26b-5p	Microarray	19088304
MIRT1012252	hsa-miR-139-5p	CLIP-seq
MIRT1012253	hsa-miR-1972	CLIP-seq
MIRT1012254	hsa-miR-3127-3p	CLIP-seq
MIRT1012255	hsa-miR-4699-3p	CLIP-seq
MIRT1012256	hsa-miR-548v	CLIP-seq
MIRT1012257	hsa-miR-1	CLIP-seq
MIRT1012252	hsa-miR-139-5p	CLIP-seq
MIRT1012258	hsa-miR-206	CLIP-seq
MIRT1012259	hsa-miR-3664-3p	CLIP-seq
MIRT1012255	hsa-miR-4699-3p	CLIP-seq
MIRT1012256	hsa-miR-548v	CLIP-seq
MIRT1012260	hsa-miR-613	CLIP-seq
MIRT1012261	hsa-miR-873	CLIP-seq
MIRT2233262	hsa-miR-1279	CLIP-seq
MIRT1012252	hsa-miR-139-5p	CLIP-seq
MIRT2450055	hsa-miR-4328	CLIP-seq
MIRT2450056	hsa-miR-4796-5p	CLIP-seq
MIRT2450057	hsa-miR-515-5p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
ETV6	Repression	20679491
HDAC3	Repression	20679491
IRF8	Repression	20679491

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001544	Process	Initiation of primordial ovarian follicle growth	IEA
GO:0001547	Process	Antral ovarian follicle growth	IEA
GO:0001725	Component	Stress fiber	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005884	Component	Actin filament	TAS	1607387
GO:0006915	Process	Apoptotic process	IEA
GO:0006915	Process	Apoptotic process	TAS	9521882
GO:0008017	Function	Microtubule binding	IEA
GO:0008360	Process	Regulation of cell shape	IEA
GO:0008593	Process	Regulation of Notch signaling pathway	IEA
GO:0016020	Component	Membrane	IEA
GO:0030728	Process	Ovulation	IEA
GO:0051015	Function	Actin filament binding	IBA
GO:0051726	Process	Regulation of cell cycle	IEA
GO:0051764	Process	Actin crosslink formation	IBA
GO:0071711	Process	Basement membrane organization	IEA

Other IDs

• MIM: 602835
• HGNC: 4167
• e!Ensembl: ENSG00000148935

Protein

• UniProt ID: O43903
• Protein name: Growth arrest-specific protein 2 (GAS-2)
• Protein function: Required to maintain microtubule bundles in inner ear supporting cells, affording them with mechanical stiffness to transmit sound energy through the cochlea.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00307	CH	34 → 158	Calponin homology (CH) domain	Domain
  PF02187	GAS2	202 → 271	Growth-Arrest-Specific Protein 2 Domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitously expressed with highest levels in liver, lung, and kidney. Not found in spleen.
• Sequence:

  MCTALSPKVRSGPGLSDMHQYSQWLASRHEANLLPMKEDLALWLTNLLGKEITAETFMEK
  LDNGALLCQLAETMQEKFKESMDANKPTKNLPLKKIPCKTSAPSGSFFARDNTANFLSWC
  RDLGVDETCLFESEGLVLHKQPREVCLCLLELGRIAARYGVEPPGLIKLEKEIEQEETLS
  APSPSPSPSSKSSGKKSTGNLLDDAVKRISEDPPCKCPNKFCVERLSQGRYRVGEKILFI
  RMLHNKHVMVRVGGGWETFAGYLLKHDPCRMLQISRVDGKTSPIQSKSPTLKDMNPDNYL
  VVSASYKAKKEIK

• Sequence length: 313

Pathways

Reactome:

Caspase-mediated cleavage of cytoskeletal proteins

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Hearing loss, autosomal recessive 125	Pathogenic	rs1854010513	RCV004585108	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CARCINOMA, ADENOID CYSTIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 125	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEARING IMPAIRMENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEARING LOSS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEARING LOSS DISORDER	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SALIVARY GLAND NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenoid Cystic Carcinoma	Adenocarcinoma	CTD_human_DG	16762588		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	31528096	Inhibit	★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	34051811	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	27085973		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	27085973	Associate	★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	CLINVAR_DG	15262960		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP F	Fanconi Anemia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	32572885, 33713047	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	26358320, 36054080	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	26358320	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	31528096		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of salivary gland	Malignant neoplasm of salivary gland	CTD_human_DG	16762588		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	27769062		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	27085973		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	34051811	Associate	★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Salivary gland neoplasm	CTD_human_DG	16762588		★★☆☆☆ Found in Text Mining + Unknown/Other Associations