Human Gene GAS2 (ENST00000454584.7_4) from GENCODE V47lift37
  Description: growth arrest specific 2, transcript variant 1 (from RefSeq NM_005256.5)
Gencode Transcript: ENST00000454584.7_4
Gencode Gene: ENSG00000148935.12_16
Transcript (Including UTRs)
   Position: hg19 chr11:22,688,157-22,834,547 Size: 146,391 Total Exon Count: 8 Strand: +
Coding Region
   Position: hg19 chr11:22,696,416-22,833,562 Size: 137,147 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:22,688,157-22,834,547)mRNA (may differ from genome)Protein (313 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: GAS2_HUMAN
DESCRIPTION: RecName: Full=Growth arrest-specific protein 2; Short=GAS-2;
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).
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton (By similarity). Membrane; Peripheral membrane protein (By similarity). 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 (By similarity).
TISSUE SPECIFICITY: Ubiquitously expressed with highest levels in liver, lung, and kidney. Not found in spleen.
DEVELOPMENTAL STAGE: Specifically expressed at growth arrest.
PTM: Cleaved, during apoptosis, on a specific aspartic residue by caspases.
PTM: Phosphorylated on serine residues during the G0-G1 transition phase (By similarity).
SIMILARITY: Belongs to the GAS2 family.
SIMILARITY: Contains 1 CH (calponin-homology) domain.
SIMILARITY: Contains 1 GAR domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: GAS2
Diseases sorted by gene-association score: gnathodiaphyseal dysplasia (3)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 5.00 RPKM in Liver
Total median expression: 43.56 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -120.70309-0.391 Picture PostScript Text
3' UTR -215.70985-0.219 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001715 - CH-domain
IPR003108 - GAS2_dom

Pfam Domains:
PF00307 - Calponin homology (CH) domain
PF02187 - Growth-Arrest-Specific Protein 2 Domain

SCOP Domains:
47576 - Calponin-homology domain, CH-domain
143575 - GAS2 domain-like

ModBase Predicted Comparative 3D Structure on O43903
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0008017 microtubule binding

Biological Process:
GO:0006915 apoptotic process
GO:0007049 cell cycle
GO:0007050 cell cycle arrest
GO:0008360 regulation of cell shape

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005884 actin filament
GO:0016020 membrane


-  Descriptions from all associated GenBank mRNAs
  AK313734 - Homo sapiens cDNA, FLJ94334, Homo sapiens growth arrest-specific 2 (GAS2), mRNA.
BC040470 - Homo sapiens growth arrest-specific 2, mRNA (cDNA clone MGC:32610 IMAGE:4280621), complete cds.
BC013326 - Homo sapiens growth arrest-specific 2, mRNA (cDNA clone IMAGE:4291917), complete cds.
U95032 - Human growth-arrest-specific protein 2 mRNA, complete cds.
AB590780 - Synthetic construct DNA, clone: pFN21AE1801, Homo sapiens GAS2 gene for growth arrest-specific 2, without stop codon, in Flexi system.
CR450285 - Homo sapiens full open reading frame cDNA clone RZPDo834A091D for gene GAS2, growth arrest-specific 2; complete cds; without stopcodon.
JD346918 - Sequence 327942 from Patent EP1572962.
CU680566 - Synthetic construct Homo sapiens gateway clone IMAGE:100023006 5' read GAS2 mRNA.
KJ901444 - Synthetic construct Homo sapiens clone ccsbBroadEn_10838 GAS2 gene, encodes complete protein.
JD311397 - Sequence 292421 from Patent EP1572962.
JD044100 - Sequence 25124 from Patent EP1572962.
JD437924 - Sequence 418948 from Patent EP1572962.
JD058569 - Sequence 39593 from Patent EP1572962.
JD273762 - Sequence 254786 from Patent EP1572962.
JD285310 - Sequence 266334 from Patent EP1572962.
JD467857 - Sequence 448881 from Patent EP1572962.
JD318704 - Sequence 299728 from Patent EP1572962.
JD300401 - Sequence 281425 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_deathPathway - Induction of apoptosis through DR3 and DR4/5 Death Receptors

Reactome (by CSHL, EBI, and GO)

Protein O43903 (Reactome details) participates in the following event(s):

R-HSA-201639 Caspase-mediated cleavage of GAS2
R-HSA-264870 Caspase-mediated cleavage of cytoskeletal proteins
R-HSA-111465 Apoptotic cleavage of cellular proteins
R-HSA-75153 Apoptotic execution phase
R-HSA-109581 Apoptosis
R-HSA-5357801 Programmed Cell Death

-  Other Names for This Gene
  Alternate Gene Symbols: B2R9C8, D3DQZ0, ENST00000454584.1, ENST00000454584.2, ENST00000454584.3, ENST00000454584.4, ENST00000454584.5, ENST00000454584.6, GAS2_HUMAN, NM_005256, O43903, Q6ICV8, Q7Z3X8, uc320vsi.1, uc320vsi.2
UCSC ID: ENST00000454584.7_4
RefSeq Accession: NM_001143830.3
Protein: O43903 (aka GAS2_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.