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

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Hearing loss, autosomal recessive 125	Pathogenic	rs1854010513	RCV004585108

Associations from Text Mining
Disease Name	Relationship Type	References
Carcinoma Hepatocellular	Inhibit	31528096
Cartilage Diseases	Associate	34051811
Colorectal Neoplasms	Associate	27085973
Glioma	Associate	32572885, 33713047
Inflammation	Associate	34051811
Leukemia	Associate	26358320, 36054080
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	26358320, 29575763
Leukemia Myeloid Acute	Associate	26358320
Neoplasms	Associate	26358320
Osteoarthritis	Associate	34051811
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	36054080