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

    Gene ID: 2620, updated on 27-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
    • 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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    Related articles in PubMed

    1. A novel variant in GAS2 is associated with autosomal dominant nonsyndromic hearing impairment in a Chinese family. Zhang L, et al. Hum Genomics, 2024 Jul 2. PMID 38956677, Free PMC Article
    2. cDNA characterization and chromosome mapping of the human GAS2 gene. Collavin L, et al. Genomics, 1998 Mar 1. PMID 9521882
    3. Growth arrest-specific 2 protein family: Structure and function. Zhang N, et al. Cell Prolif, 2021 Jan. PMID 33103301, Free PMC Article
    4. Growth arrest specific 2 is up-regulated in chronic myeloid leukemia cells and required for their growth. Zhou H, et al. PLoS One, 2014. PMID 24465953, Free PMC Article
    5. Upregulation of the growth arrest-specific-2 in recurrent colorectal cancers, and its susceptibility to chemotherapy in a model cell system. Huang CJ, et al. Biochim Biophys Acta, 2016 Jul. PMID 27085973

    See all (33) citations in PubMed

    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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