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GAS2 growth arrest specific 2 [ Homo sapiens (human) ]

Gene ID: 2620, updated on 14-Nov-2024

Summary

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Official Symbol
GAS2provided by HGNC
Official Full Name
growth arrest specific 2provided by HGNC
Primary source
HGNC:HGNC:4167
See related
Ensembl:ENSG00000148935 MIM:602835; AllianceGenome:HGNC:4167
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GAS-2; DFNB125
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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2017]
Expression
Broad expression in liver (RPKM 2.8), kidney (RPKM 0.9) and 21 other tissues See more
Orthologs
mouse all
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Genomic context

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See GAS2 in Genome Data Viewer
Location:
11p14.3
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (22626002..22813055)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (22746758..22933721)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (22688122..22834601)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376588 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4533 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4534 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr11:22646933-22647832 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr11:22656570-22657334 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3206 Neighboring gene FA complementation group F Neighboring gene RNA, 5S ribosomal pseudogene 338 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4537 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4538 Neighboring gene Sharpr-MPRA regulatory region 5411 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:22813641-22814840 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4539 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3207 Neighboring gene long intergenic non-protein coding RNA 2718 Neighboring gene coiled-coil domain containing 179 Neighboring gene small VCP interacting protein

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. A novel variant in GAS2 is associated with autosomal dominant nonsyndromic hearing impairment in a Chinese family.
    Title: A novel variant in GAS2 is associated with autosomal dominant nonsyndromic hearing impairment in a Chinese family.
  2. Growth arrest-specific protein 2 (GAS2) interacts with CXCR4 to promote T-cell leukemogenesis partially via c-MYC.
    Title: Growth arrest-specific protein 2 (GAS2) interacts with CXCR4 to promote T-cell leukemogenesis partially via c-MYC.
  3. Cochlear supporting cells require GAS2 for cytoskeletal architecture and hearing.
    Title: Cochlear supporting cells require GAS2 for cytoskeletal architecture and hearing.
  4. UCHL1 enhances the malignant development of glioma via targeting GAS2.
    Title: UCHL1 enhances the malignant development of glioma via targeting GAS2.
  5. Growth arrest-specific 2 protein family: Structure and function.
    Title: Growth arrest-specific 2 protein family: Structure and function.
  6. GAS2 protein expression was lower in hepatocellular carcinoma (HCC) than in normal tissues. Overexpression of GAS2 inhibited the proliferation of HCC cells with wide type p53, while knockdown of GAS2 promoted the proliferation of hepatocytes. Results suggest that GAS2 plays a vital role in HCC cell proliferation and apoptosis, possibly by regulating the cell cycle and p53-dependent apoptosis pathway.
    Title: Growth arrest-specific gene 2 suppresses hepatocarcinogenesis by intervention of cell cycle and p53-dependent apoptosis.
  7. This study found a highly significant correlation between colorectal cancers relapse and growth arrest-specific 2 (GAS2) gene expression. Based on cell models, the overexpressed GAS2 was associated with cellular growth rate, cell cycle regulation, and with chemotherapeutic sensitivity.
    Title: Upregulation of the growth arrest-specific-2 in recurrent colorectal cancers, and its susceptibility to chemotherapy in a model cell system.
  8. Taken together, our results demonstrated the deregulation of GAS2 in both AML and ALL and the requirement of GAS2-Calpain2 axis for the growth of leukemic cells.
    Title: GAS2-Calpain2 axis contributes to the growth of leukemic cells.
  9. Truncated HBx deregulates cell growth via direct silencing of GAS2 and thereby provides a survival advantage for pre-neoplastic hepatocytes to facilitate cancer development via TP53 signaling.
    Title: Truncated HBx-dependent silencing of GAS2 promotes hepatocarcinogenesis through deregulation of cell cycle, senescence and p53-mediated apoptosis.
  10. GAS2 is up-regulated in chronic myeloid leukemia cells.
    Title: Growth arrest specific 2 is up-regulated in chronic myeloid leukemia cells and required for their growth.
Submit: New GeneRIF Correction See all GeneRIFs (13)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC32610

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables actin filament binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables microtubule binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in actin crosslink formation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in antral ovarian follicle growth IEA
Inferred from Electronic Annotation
more info
  
involved_in apoptotic process IEA
Inferred from Electronic Annotation
more info
  
involved_in basement membrane organization IEA
Inferred from Electronic Annotation
more info
  
involved_in initiation of primordial ovarian follicle growth IEA
Inferred from Electronic Annotation
more info
  
involved_in ovulation IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of Notch signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of cell cycle IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of cell shape IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
located_in stress fiber IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
growth arrest-specific protein 2

NCBI Reference Sequences (RefSeq)

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NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001143830.3 → NP_001137302.1  growth arrest-specific protein 2 isoform a

    See identical proteins and their annotated locations for NP_001137302.1

    Status: REVIEWED

    Source sequence(s)
    AC006299, AC103801
    Consensus CDS
    CCDS7858.1
    UniProtKB/Swiss-Prot
    B2R9C8, D3DQZ0, O43903, Q6ICV8, Q7Z3X8
    Related
    ENSP00000401145.2, ENST00000454584.7
    Conserved Domains (2) summary
    smart00243
    Location:200 → 273
    GAS2; Growth-Arrest-Specific Protein 2 Domain
    cd21267
    Location:29 → 163
    CH_GAS2; calponin homology (CH) domain found in growth arrest-specific protein 2

  2. NM_001351224.3 → NP_001338153.1  growth arrest-specific protein 2 isoform b

    Status: REVIEWED

    Source sequence(s)
    AC006299, AC103801
    UniProtKB/TrEMBL
    E9PRR5
    Conserved Domains (2) summary
    cd00014
    Location:35 → 157
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cl02524
    Location:200 → 243
    GAS2; Growth-Arrest-Specific Protein 2 Domain

  3. NM_001391933.1 → NP_001378862.1  growth arrest-specific protein 2 isoform c

    Status: REVIEWED

    Source sequence(s)
    AC006299, AC103801
    Conserved Domains (2) summary
    cd21267
    Location:29 → 163
    CH_GAS2; calponin homology (CH) domain found in growth arrest-specific protein 2
    cl02524
    Location:200 → 291
    GAS2; Growth-Arrest-Specific Protein 2 Domain

  4. NM_001391934.1 → NP_001378863.1  growth arrest-specific protein 2 isoform a

    Status: REVIEWED

    Source sequence(s)
    AC006299, AC103801
    Consensus CDS
    CCDS7858.1
    UniProtKB/Swiss-Prot
    B2R9C8, D3DQZ0, O43903, Q6ICV8, Q7Z3X8
    Conserved Domains (2) summary
    smart00243
    Location:200 → 273
    GAS2; Growth-Arrest-Specific Protein 2 Domain
    cd21267
    Location:29 → 163
    CH_GAS2; calponin homology (CH) domain found in growth arrest-specific protein 2

  5. NM_001391935.1 → NP_001378864.1  growth arrest-specific protein 2 isoform a

    Status: REVIEWED

    Source sequence(s)
    AC006299, AC103801
    Consensus CDS
    CCDS7858.1
    UniProtKB/Swiss-Prot
    B2R9C8, D3DQZ0, O43903, Q6ICV8, Q7Z3X8
    Conserved Domains (2) summary
    smart00243
    Location:200 → 273
    GAS2; Growth-Arrest-Specific Protein 2 Domain
    cd21267
    Location:29 → 163
    CH_GAS2; calponin homology (CH) domain found in growth arrest-specific protein 2

  6. NM_001391936.1 → NP_001378865.1  growth arrest-specific protein 2 isoform a

    Status: REVIEWED

    Source sequence(s)
    AC006299, AC103801
    Consensus CDS
    CCDS7858.1
    UniProtKB/Swiss-Prot
    B2R9C8, D3DQZ0, O43903, Q6ICV8, Q7Z3X8
    Conserved Domains (2) summary
    smart00243
    Location:200 → 273
    GAS2; Growth-Arrest-Specific Protein 2 Domain
    cd21267
    Location:29 → 163
    CH_GAS2; calponin homology (CH) domain found in growth arrest-specific protein 2

  7. NM_001391937.1 → NP_001378866.1  growth arrest-specific protein 2 isoform a

    Status: REVIEWED

    Source sequence(s)
    AC006299, AC103801
    Consensus CDS
    CCDS7858.1
    UniProtKB/Swiss-Prot
    B2R9C8, D3DQZ0, O43903, Q6ICV8, Q7Z3X8
    Conserved Domains (2) summary
    smart00243
    Location:200 → 273
    GAS2; Growth-Arrest-Specific Protein 2 Domain
    cd21267
    Location:29 → 163
    CH_GAS2; calponin homology (CH) domain found in growth arrest-specific protein 2

  8. NM_005256.5 → NP_005247.1  growth arrest-specific protein 2 isoform a

    See identical proteins and their annotated locations for NP_005247.1

    Status: REVIEWED

    Source sequence(s)
    AC006299, AC103801
    Consensus CDS
    CCDS7858.1
    UniProtKB/Swiss-Prot
    B2R9C8, D3DQZ0, O43903, Q6ICV8, Q7Z3X8
    Conserved Domains (2) summary
    smart00243
    Location:200 → 273
    GAS2; Growth-Arrest-Specific Protein 2 Domain
    cd21267
    Location:29 → 163
    CH_GAS2; calponin homology (CH) domain found in growth arrest-specific protein 2

  9. NM_177553.4 → NP_808221.1  growth arrest-specific protein 2 isoform a

    See identical proteins and their annotated locations for NP_808221.1

    Status: REVIEWED

    Source sequence(s)
    AC006299, AC103801
    Consensus CDS
    CCDS7858.1
    UniProtKB/Swiss-Prot
    B2R9C8, D3DQZ0, O43903, Q6ICV8, Q7Z3X8
    Related
    ENSP00000278187.3, ENST00000278187.7
    Conserved Domains (2) summary
    smart00243
    Location:200 → 273
    GAS2; Growth-Arrest-Specific Protein 2 Domain
    cd21267
    Location:29 → 163
    CH_GAS2; calponin homology (CH) domain found in growth arrest-specific protein 2

RNA

  1. NR_147085.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC006299, AC103801, AI374985

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    22626002..22813055
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047426745.1 → XP_047282701.1  growth arrest-specific protein 2 isoform X1

  2. XM_011519972.4 → XP_011518274.1  growth arrest-specific protein 2 isoform X1

    See identical proteins and their annotated locations for XP_011518274.1

    Conserved Domains (2) summary
    cd21267
    Location:29 → 163
    CH_GAS2; calponin homology (CH) domain found in growth arrest-specific protein 2
    cl02524
    Location:200 → 291
    GAS2; Growth-Arrest-Specific Protein 2 Domain

  3. XM_047426746.1 → XP_047282702.1  growth arrest-specific protein 2 isoform X2

    UniProtKB/Swiss-Prot
    B2R9C8, D3DQZ0, O43903, Q6ICV8, Q7Z3X8

  4. XM_047426744.1 → XP_047282700.1  growth arrest-specific protein 2 isoform X1

  5. XM_047426747.1 → XP_047282703.1  growth arrest-specific protein 2 isoform X2

    UniProtKB/Swiss-Prot
    B2R9C8, D3DQZ0, O43903, Q6ICV8, Q7Z3X8

  6. XM_011519971.4 → XP_011518273.1  growth arrest-specific protein 2 isoform X1

    See identical proteins and their annotated locations for XP_011518273.1

    Conserved Domains (2) summary
    cd21267
    Location:29 → 163
    CH_GAS2; calponin homology (CH) domain found in growth arrest-specific protein 2
    cl02524
    Location:200 → 291
    GAS2; Growth-Arrest-Specific Protein 2 Domain

  7. XM_047426750.1 → XP_047282706.1  growth arrest-specific protein 2 isoform X4

  8. XM_047426749.1 → XP_047282705.1  growth arrest-specific protein 2 isoform X4

  9. XM_011519975.2 → XP_011518277.1  growth arrest-specific protein 2 isoform X4

    See identical proteins and their annotated locations for XP_011518277.1

    UniProtKB/TrEMBL
    E9PRR5
    Related
    ENSP00000435946.1, ENST00000532398.1
    Conserved Domains (2) summary
    cd00014
    Location:35 → 157
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cl02524
    Location:200 → 242
    GAS2; Growth-Arrest-Specific Protein 2 Domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    22746758..22933721
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054368387.1 → XP_054224362.1  growth arrest-specific protein 2 isoform X2

    UniProtKB/Swiss-Prot
    B2R9C8, D3DQZ0, O43903, Q6ICV8, Q7Z3X8

  2. XM_054368384.1 → XP_054224359.1  growth arrest-specific protein 2 isoform X1

  3. XM_054368385.1 → XP_054224360.1  growth arrest-specific protein 2 isoform X1

  4. XM_054368383.1 → XP_054224358.1  growth arrest-specific protein 2 isoform X1

  5. XM_054368382.1 → XP_054224357.1  growth arrest-specific protein 2 isoform X1

  6. XM_054368391.1 → XP_054224366.1  growth arrest-specific protein 2 isoform X4

  7. XM_054368390.1 → XP_054224365.1  growth arrest-specific protein 2 isoform X4

  8. XM_054368392.1 → XP_054224367.1  growth arrest-specific protein 2 isoform X4

  9. XM_054368386.1 → XP_054224361.1  growth arrest-specific protein 2 isoform X2

    UniProtKB/Swiss-Prot
    B2R9C8, D3DQZ0, O43903, Q6ICV8, Q7Z3X8
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O43903.1 GenPept UniProtKB/Swiss-Prot:O43903

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