Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	2620
Gene name Gene Name - the full gene name approved by the HGNC.	Growth arrest specific 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	GAS2
Synonyms (NCBI Gene) Gene synonyms aliases	DFNB125, GAS-2
Disease Acronyms (UniProt) Disease acronyms from UniProt database	DFNB125
Chromosome Chromosome number	11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	11p14.3
Summary Summary of gene provided in NCBI Entrez 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. Alternativ

Show/Hide all(19)

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

Show/Hide all(3)

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

Show/Hide all(17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000226	Process	Microtubule cytoskeleton organization	IBA	21873635
GO:0001544	Process	Initiation of primordial ovarian follicle growth	IEA
GO:0001547	Process	Antral ovarian follicle growth	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005874	Component	Microtubule	IBA	21873635
GO:0005884	Component	Actin filament	IBA	21873635
GO:0006915	Process	Apoptotic process	IEA
GO:0007050	Process	Cell cycle arrest	IEA
GO:0008017	Function	Microtubule binding	IBA	21873635
GO:0008093	Function	Cytoskeletal anchor activity	IBA	21873635
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	21873635
GO:0051764	Process	Actin crosslink formation	IBA	21873635
GO:0071711	Process	Basement membrane organization	IEA

MIM	HGNC	e!Ensembl
602835	4167	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

Interactions

View interactions

	Reactome
			Caspase-mediated cleavage of cytoskeletal proteins

Show/Hide Causal Diseases (2)

Disease term	Disease name	dbSNP ID	References
Causal
Adenocarcinoma	Adenoid Cystic Carcinoma	rs121913530, rs886039394, rs121913474	16762588
Fanconi anemia	Fanconi Anemia, FANCONI ANEMIA, COMPLEMENTATION GROUP F	rs121918164, rs118203997, rs118203998, rs118203999, rs397507552, rs778507965, rs747851434, rs587776570, rs121907930, rs794726660, rs137852986, rs730880277, rs730880278, rs104894221, rs587778340 View all (653 more)	15262960

Show/Hide Unknown Diseases (2)

Disease term	Disease name	Source
Unknown
Deafness	hearing loss, autosomal recessive 125	GenCC
Hearing Loss	hearing loss disorder	GenCC

Show/Hide Text Mining Associations (11)

Disease Name	Relationship Type	References
Associations from Text Mining
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

GAS2 (growth arrest specific 2)