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] See more...

Aliases for GAS2 Gene

Aliases for GAS2 Gene

  • Growth Arrest Specific 2 2 3 5
  • Growth Arrest-Specific Protein 2 3 4
  • GAS-2 3 4
  • GAS2 5

External Ids for GAS2 Gene

Previous GeneCards Identifiers for GAS2 Gene

  • GC11P024106
  • GC11P023491
  • GC11P022728
  • GC11P022653
  • GC11P022646
  • GC11P022688
  • GC11P022371

Summaries for GAS2 Gene

Entrez Gene Summary for GAS2 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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2017]

GeneCards Summary for GAS2 Gene

GAS2 (Growth Arrest Specific 2) is a Protein Coding gene. Diseases associated with GAS2 include Gnathodiaphyseal Dysplasia and Trichothiodystrophy 1, Photosensitive. Among its related pathways are Nanog in Mammalian ESC Pluripotency and Apoptotic Pathways in Synovial Fibroblasts. An important paralog of this gene is GAS2L1.

UniProtKB/Swiss-Prot Summary for GAS2 Gene

  • May play a role in apoptosis by acting as a cell death substrate for caspases. Is cleaved during apoptosis and the cleaved form induces dramatic rearrangements of the actin cytoskeleton and potent changes in the shape of the affected cells. May be involved in the membrane ruffling process (By similarity).

Gene Wiki entry for GAS2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GAS2 Gene

Genomics for GAS2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GAS2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J022665 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 257 +42.5 42482 4.7 ZIC2 KLF11 SIN3A KMT2B MAFF SMAD4 SAP130 DMAP1 GABPB1 ASH2L GAS2 SLC17A6 SLC17A6-DT HSALNG0083150 piR-45012-072 FANCF SVIP
GH11J022624 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 256 -0.5 -498 3.6 BCLAF1 SP1 ZNF600 MYC KLF9 POLR2A CEBPA ZIC2 YY1 MXD4 FANCF GAS2 HSALNG0083148 lnc-SLC17A6-3 HSALNG0083144 SLC17A6
GH11J022674 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE dbSUPER 257.6 +49.7 49709 2.4 ATF3 CHD4 YY1 ZNF592 TRIM22 FOXA2 KDM6A REST MAFF RXRA GAS2 HSALNG0083150 piR-45012-072 FANCF SVIP
GH11J022678 Enhancer 1 FANTOM5 Ensembl ENCODE dbSUPER 21.6 +52.0 51991 1 ZNF207 YY1 SPI1 HLF TAF1 NBN RELB MLLT1 GAS2 FANCF HSALNG0083150 piR-45012-072 SVIP
GH11J022680 Enhancer 1.2 FANTOM5 Ensembl dbSUPER 11.8 +55.3 55277 0.4 CEBPA ATF3 CHD4 YY1 HOMEZ KMT2B THAP11 FOXA2 KDM6A MAFF GAS2 HSALNG0083150 piR-45012-072 FANCF SVIP
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GAS2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GAS2

Top Transcription factor binding sites by QIAGEN in the GAS2 gene promoter:
  • c-Myc
  • HNF-3beta
  • Max1

Genomic Locations for GAS2 Gene

Latest Assembly
chr11:22,625,509-22,885,930
(GRCh38/hg38)
Size:
260,422 bases
Orientation:
Plus strand

Previous Assembly
chr11:22,688,157-22,834,601
(GRCh37/hg19 by Entrez Gene)
Size:
146,445 bases
Orientation:
Plus strand

chr11:22,647,188-22,834,601
(GRCh37/hg19 by Ensembl)
Size:
187,414 bases
Orientation:
Plus strand

Genomic View for GAS2 Gene

Genes around GAS2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GAS2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GAS2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GAS2 Gene

Proteins for GAS2 Gene

  • Protein details for GAS2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43903-GAS2_HUMAN
    Recommended name:
    Growth arrest-specific protein 2
    Protein Accession:
    O43903
    Secondary Accessions:
    • B2R9C8
    • D3DQZ0
    • Q6ICV8
    • Q7Z3X8

    Protein attributes for GAS2 Gene

    Size:
    313 amino acids
    Molecular mass:
    34945 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for GAS2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GAS2 Gene

Post-translational modifications for GAS2 Gene

  • Cleaved, during apoptosis, on a specific aspartic residue by caspases.
  • Phosphorylated on serine residues during the G0-G1 transition phase.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for GAS2 Gene

Domains & Families for GAS2 Gene

Gene Families for GAS2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for GAS2 Gene

InterPro:
Blocks:
  • Calponin-like actin-binding
  • Growth-arrest-specific protein 2

Suggested Antigen Peptide Sequences for GAS2 Gene

GenScript: Design optimal peptide antigens:
  • Growth arrest-specific protein 2 (GAS2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O43903

UniProtKB/Swiss-Prot:

GAS2_HUMAN :
  • Belongs to the GAS2 family.
Family:
  • Belongs to the GAS2 family.
genes like me logo Genes that share domains with GAS2: view

Function for GAS2 Gene

Molecular function for GAS2 Gene

UniProtKB/Swiss-Prot Function:
May play a role in apoptosis by acting as a cell death substrate for caspases. Is cleaved during apoptosis and the cleaved form induces dramatic rearrangements of the actin cytoskeleton and potent changes in the shape of the affected cells. May be involved in the membrane ruffling process (By similarity).
GENATLAS Biochemistry:
growth arrest specific gene 2,expressed in liver,lung and kidney,involved in the regulation of microfilament dynamico during both cell cycle and apoptosis,homolog to GAR22,? same family

Phenotypes From GWAS Catalog for GAS2 Gene

Gene Ontology (GO) - Molecular Function for GAS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI --
GO:0008017 microtubule binding IBA 21873635
GO:0008093 cytoskeletal adaptor activity IBA 21873635
GO:0051015 actin filament binding IBA 21873635
genes like me logo Genes that share ontologies with GAS2: view
genes like me logo Genes that share phenotypes with GAS2: view

Animal Models for GAS2 Gene

MGI Knock Outs for GAS2:
  • Gas2 Gas2<tm1(GFP/cre/ERT2)Pzg>

miRNA for GAS2 Gene

miRTarBase miRNAs that target GAS2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GAS2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GAS2 Gene

Localization for GAS2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GAS2 Gene

Cytoplasm, cytoskeleton, stress fiber. Membrane. Peripheral membrane protein. Note=Component of the microfilament system. Colocalizes with actin fibers at the cell border and along the stress fibers in growth-arrested fibroblasts. Mainly membrane-associated. When hyperphosphorylated, accumulates at membrane ruffles. {ECO:0000250 UniProtKB:P11862}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GAS2 gene
Compartment Confidence
cytosol 5
cytoskeleton 4
nucleus 2
plasma membrane 1
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoli (2)
  • Nucleoplasm (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GAS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
GO:0005874 microtubule IBA 21873635
GO:0005884 actin filament TAS,IBA 21873635
genes like me logo Genes that share ontologies with GAS2: view

Pathways & Interactions for GAS2 Gene

PathCards logo

SuperPathways for GAS2 Gene

SuperPathway Contained pathways
1 Apoptotic Pathways in Synovial Fibroblasts
.85
.85
.84
.84
.74
.72
.66
.65
.64
.62
.61
.60
.57
.57
2 GPCR Pathway
.73
.73
.62
.59
.58
.58
.55
3 ERK Signaling
.61
.61
.58
.51
.49
4 Nanog in Mammalian ESC Pluripotency
.61
.61
.59
.48
5 CREB Pathway
.68
.68
.63
.50
genes like me logo Genes that share pathways with GAS2: view

Pathways by source for GAS2 Gene

1 Sino Biological pathway for GAS2 Gene
1 BioSystems pathway for GAS2 Gene
55 Qiagen pathways for GAS2 Gene
  • 14-3-3 Induced Intracellular Signaling
  • Actin-Based Motility by Rho Family GTPases
  • Activation of cAMP-Dependent PKA
  • Activation of PKA through GPCR
  • Activation of PKC through GPCR

SIGNOR curated interactions for GAS2 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for GAS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000226 microtubule cytoskeleton organization IBA 21873635
GO:0001544 initiation of primordial ovarian follicle growth IEA --
GO:0001547 antral ovarian follicle growth IEA --
GO:0006915 apoptotic process TAS,IEA --
GO:0007049 cell cycle IEA --
genes like me logo Genes that share ontologies with GAS2: view

Drugs & Compounds for GAS2 Gene

No Compound Related Data Available

Transcripts for GAS2 Gene

mRNA/cDNA for GAS2 Gene

9 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GAS2

Alternative Splicing Database (ASD) splice patterns (SP) for GAS2 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b
SP1: - - -
SP2: - - - -
SP3: - - -
SP4: - - -
SP5:
SP6:

Relevant External Links for GAS2 Gene

GeneLoc Exon Structure for
GAS2

Expression for GAS2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GAS2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GAS2 Gene

This gene is overexpressed in Liver (x7.1) and Brain - Spinal cord (cervical c-1) (x5.2).

Protein differential expression in normal tissues from HIPED for GAS2 Gene

This gene is overexpressed in Liver (25.8), Fetal Liver (19.0), and Pancreas (18.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GAS2 Gene



Protein tissue co-expression partners for GAS2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GAS2

SOURCE GeneReport for Unigene cluster for GAS2 Gene:

Hs.711297

mRNA Expression by UniProt/SwissProt for GAS2 Gene:

O43903-GAS2_HUMAN
Tissue specificity: Ubiquitously expressed with highest levels in liver, lung, and kidney. Not found in spleen.

Evidence on tissue expression from TISSUES for GAS2 Gene

  • Liver(4.4)
  • Kidney(4.4)
  • Nervous system(4.4)
  • Muscle(4.3)
genes like me logo Genes that share expression patterns with GAS2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for GAS2 Gene

Orthologs for GAS2 Gene

This gene was present in the common ancestor of animals.

Orthologs for GAS2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia GAS2 29 30
  • 99.79 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia GAS2 29 30
  • 95.1 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia GAS2 30
  • 95 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia GAS2 29 30
  • 93.82 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia GAS2 30
  • 90 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Gas2 29 16 30
  • 89.35 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Gas2 29
  • 88.82 (n)
Chicken
(Gallus gallus)
Aves GAS2 29 30
  • 81.73 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia GAS2 30
  • 92 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia gas2 29
  • 74.68 (n)
Zebrafish
(Danio rerio)
Actinopterygii GAS2 30
  • 75 (a)
OneToOne
gas2b 29
  • 63.35 (n)
Dr.28064 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5535 29
Worm
(Caenorhabditis elegans)
Secernentea D2096.11 30
  • 9 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.4664 30
  • 50 (a)
OneToMany
Species where no ortholog for GAS2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for GAS2 Gene

ENSEMBL:
Gene Tree for GAS2 (if available)
TreeFam:
Gene Tree for GAS2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GAS2: view image
Alliance of Genome Resources:
Additional Orthologs for GAS2

Paralogs for GAS2 Gene

Paralogs for GAS2 Gene

(3) SIMAP similar genes for GAS2 Gene using alignment to 6 proteins:

  • GAS2_HUMAN
  • E9PM28_HUMAN
  • E9PQ37_HUMAN
  • E9PQ74_HUMAN
  • E9PRR5_HUMAN
  • Q7Z3X8_HUMAN
genes like me logo Genes that share paralogs with GAS2: view

Variants for GAS2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GAS2 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs7122835 Benign: not provided 22,749,123(+) T/C
NM_001143830.2(GAS2):c.477T>C (p.Tyr159=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for GAS2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for GAS2 Gene

Variant ID Type Subtype PubMed ID
esv3625621 CNV loss 21293372
esv3625622 CNV loss 21293372
esv3625623 CNV gain 21293372
nsv1046773 CNV loss 25217958
nsv510246 OTHER sequence alteration 20534489
nsv523451 CNV loss 19592680

Variation tolerance for GAS2 Gene

Residual Variation Intolerance Score: 45.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.51; 43.94% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GAS2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GAS2
Leiden Open Variation Database (LOVD)
GAS2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GAS2 Gene

Disorders for GAS2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for GAS2 Gene - From: COP and GCD

- elite association - COSMIC cancer census association via MalaCards
Search GAS2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for GAS2

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with GAS2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GAS2 Gene

Publications for GAS2 Gene

  1. cDNA characterization and chromosome mapping of the human GAS2 gene. (PMID: 9521882) Collavin L … Schneider C (Genomics 1998) 2 3 4 22
  2. Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes. (PMID: 21546767) Murea M … Freedman BI (American journal of nephrology 2011) 3 40
  3. An approach based on a genome-wide association study reveals candidate loci for narcolepsy. (PMID: 20677014) Shimada M … Tokunaga K (Human genetics 2010) 3 40
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. Caspase-3 and caspase-7 but not caspase-6 cleave Gas2 in vitro: implications for microfilament reorganization during apoptosis. (PMID: 10564664) Sgorbissa A … Brancolini C (Journal of cell science 1999) 3 22

Products for GAS2 Gene

Sources for GAS2 Gene