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

Gene ID: 2620, updated on 8-Dec-2018

Summary

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
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
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

Genomic context

See GAS2 in Genome Data Viewer
Location:
11p14.3
Exon count:
17
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (22627758..22885930)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (22688160..22834547)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376588 Neighboring gene FA complementation group F Neighboring gene RNA, 5S ribosomal pseudogene 338 Neighboring gene small VCP interacting protein Neighboring gene coiled-coil domain containing 179 Neighboring gene uncharacterized LOC105376591 Neighboring gene uncharacterized LOC105376592

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Apoptosis, organism-specific biosystem (from REACTOME)
    Apoptosis, organism-specific biosystemApoptosis is a distinct form of cell death that is functionally and morphologically different from necrosis. Nuclear chromatin condensation, cytoplasmic shrinking, dilated endoplasmic reticulum, and ...
  • Apoptotic cleavage of cellular proteins, organism-specific biosystem (from REACTOME)
    Apoptotic cleavage of cellular proteins, organism-specific biosystemApoptotic cell death is achieved by the caspase-mediatedcleavage of various vital proteins. Among caspase targets are proteins such as E-cadherin, Beta-catenin, alpha fodrin, GAS2, FADK, alpha adduc...
  • Apoptotic execution phase, organism-specific biosystem (from REACTOME)
    Apoptotic execution phase, organism-specific biosystemIn the execution phase of apoptosis, effector caspases cleave vital cellular proteins leading to the morphological changes that characterize apoptosis. These changes include destruction of the nucle...
  • Caspase cascade in apoptosis, organism-specific biosystem (from Pathway Interaction Database)
    Caspase cascade in apoptosis, organism-specific biosystem
    Caspase cascade in apoptosis
  • Caspase-mediated cleavage of cytoskeletal proteins, organism-specific biosystem (from REACTOME)
    Caspase-mediated cleavage of cytoskeletal proteins, organism-specific biosystemCaspase-mediated cleavage of a number of proteins in the cortical actin network ( ) microfilament system and others involved in maintenance of the cytoskeletal architecture (vimentin, or Gas2 and ...
  • Programmed Cell Death, organism-specific biosystem (from REACTOME)
    Programmed Cell Death, organism-specific biosystemCell death is a fundamental cellular response that has a crucial role in shaping our bodies during development and in regulating tissue homeostasis by eliminating unwanted cells. There are a number o...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC32610

Gene Ontology Provided by GOA

Function Evidence Code Pubs
microtubule binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
antral ovarian follicle growth IEA
Inferred from Electronic Annotation
more info
 
apoptotic process IEA
Inferred from Electronic Annotation
more info
 
basement membrane organization IEA
Inferred from Electronic Annotation
more info
 
cell cycle arrest IEA
Inferred from Electronic Annotation
more info
 
initiation of primordial ovarian follicle growth IEA
Inferred from Electronic Annotation
more info
 
ovulation IEA
Inferred from Electronic Annotation
more info
 
regulation of Notch signaling pathway IEA
Inferred from Electronic Annotation
more info
 
regulation of cell shape IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
actin filament TAS
Traceable Author Statement
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
growth arrest-specific protein 2

NCBI Reference Sequences (RefSeq)

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_001143830.1NP_001137302.1  growth arrest-specific protein 2 isoform a

    See identical proteins and their annotated locations for NP_001137302.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 3 encode the same isoform (a).
    Source sequence(s)
    AC006299, AI374985, AK313734, DA345287
    Consensus CDS
    CCDS7858.1
    UniProtKB/Swiss-Prot
    O43903
    Related
    ENSP00000401145.2, ENST00000454584.6
    Conserved Domains (2) summary
    smart00243
    Location:200273
    GAS2; Growth-Arrest-Specific Protein 2 Domain
    cd00014
    Location:35157
    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 ...
  2. NM_001351224.1NP_001338153.1  growth arrest-specific protein 2 isoform b

    Status: REVIEWED

    Source sequence(s)
    AC006299, AC103801, AI374985
    Conserved Domains (2) summary
    cd00014
    Location:35157
    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:200243
    GAS2; Growth-Arrest-Specific Protein 2 Domain
  3. NM_005256.3NP_005247.1  growth arrest-specific protein 2 isoform a

    See identical proteins and their annotated locations for NP_005247.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (a). Variants 1, 2, and 3 encode the same isoform.
    Source sequence(s)
    AC006299, AI374985, AU099094, U95032
    Consensus CDS
    CCDS7858.1
    UniProtKB/Swiss-Prot
    O43903
    Conserved Domains (2) summary
    smart00243
    Location:200273
    GAS2; Growth-Arrest-Specific Protein 2 Domain
    cd00014
    Location:35157
    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 ...
  4. NM_177553.2NP_808221.1  growth arrest-specific protein 2 isoform a

    See identical proteins and their annotated locations for NP_808221.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 3 encode the same isoform (1).
    Source sequence(s)
    AC006299, AC103801, AI374985, BC040470
    Consensus CDS
    CCDS7858.1
    UniProtKB/Swiss-Prot
    O43903
    Related
    ENSP00000278187.3, ENST00000278187.7
    Conserved Domains (2) summary
    smart00243
    Location:200273
    GAS2; Growth-Arrest-Specific Protein 2 Domain
    cd00014
    Location:35157
    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 ...

RNA

  1. NR_147085.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC006299, AC103801, AI374985

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

    Range
    22627758..22885930
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011519972.3XP_011518274.1  growth arrest-specific protein 2 isoform X1

    See identical proteins and their annotated locations for XP_011518274.1

    Conserved Domains (2) summary
    cd00014
    Location:35157
    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:200291
    GAS2; Growth-Arrest-Specific Protein 2 Domain
  2. XM_017017532.1XP_016873021.1  growth arrest-specific protein 2 isoform X2

  3. XM_011519971.3XP_011518273.1  growth arrest-specific protein 2 isoform X1

    See identical proteins and their annotated locations for XP_011518273.1

    Conserved Domains (2) summary
    cd00014
    Location:35157
    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:200291
    GAS2; Growth-Arrest-Specific Protein 2 Domain
  4. XM_011519975.1XP_011518277.1  growth arrest-specific protein 2 isoform X3

    See identical proteins and their annotated locations for XP_011518277.1

    Related
    ENSP00000435946.1, ENST00000532398.1
    Conserved Domains (2) summary
    cd00014
    Location:35157
    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:200242
    GAS2; Growth-Arrest-Specific Protein 2 Domain

RNA

  1. XR_001747829.1 RNA Sequence

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