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Aliases for GAS7 Gene

Aliases for GAS7 Gene

  • Growth Arrest Specific 7 2 3 5
  • KIAA0394 4
  • GAS-7 4

External Ids for GAS7 Gene

Previous GeneCards Identifiers for GAS7 Gene

  • GC17M010179
  • GC17M010928
  • GC17M009756
  • GC17M010014
  • GC17M009754
  • GC17M009813

Summaries for GAS7 Gene

Entrez Gene Summary for GAS7 Gene

  • Growth arrest-specific 7 is expressed primarily in terminally differentiated brain cells and predominantly in mature cerebellar Purkinje neurons. GAS7 plays a putative role in neuronal development. Several transcript variants encoding proteins which vary in the N-terminus have been described. [provided by RefSeq, Jul 2008]

GeneCards Summary for GAS7 Gene

GAS7 (Growth Arrest Specific 7) is a Protein Coding gene. Diseases associated with GAS7 include Spastic Hemiplegia and Low Tension Glaucoma. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and actin filament binding. An important paralog of this gene is PSTPIP1.

UniProtKB/Swiss-Prot for GAS7 Gene

  • May play a role in promoting maturation and morphological differentiation of cerebellar neurons.

Gene Wiki entry for GAS7 Gene

Additional gene information for GAS7 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GAS7 Gene

Genomics for GAS7 Gene

GeneHancer (GH) Regulatory Elements for GAS7 Gene

Promoters and enhancers for GAS7 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
GH17I010197 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 550.8 +0.3 314 2.1 MXI1 ZNF777 MZF1 ZIC2 ZNF335 GLIS2 PATZ1 SCRT2 PRDM10 ZNF600 GAS7 GC17M010159
GH17I009958 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE dbSUPER 550.1 +239.2 239203 1 CTCF ZSCAN18 RFX1 SIN3A EBF1 RAD21 ZNF143 SMC3 ZNF444 DEK GAS7 GC17P009965 GC17M009941
GH17I010032 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE dbSUPER 573.4 +163.4 163422 5.5 SOX13 POLR2A EBF1 GAS7 GC17P010023 GC17M010055
GH17I010026 Promoter/Enhancer 0.9 EPDnew dbSUPER 550.1 +172.2 172246 0.1 PKNOX1 POLR2A PRDM4 GAS7 GC17P010023 GC17M010055
GH17I010155 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 28.3 +41.8 41817 2.7 HDGF PKNOX1 MAX EBF1 ZFHX2 POLR2A ATF7 IKZF2 RUNX3 EGR2 GAS7 GC17P010160 GC17P010145
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around GAS7 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GAS7 gene promoter:

Genomic Locations for GAS7 Gene

Genomic Locations for GAS7 Gene
chr17:9,910,609-10,198,551
(GRCh38/hg38)
Size:
287,943 bases
Orientation:
Minus strand
chr17:9,813,926-10,101,868
(GRCh37/hg19)

Genomic View for GAS7 Gene

Genes around GAS7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GAS7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GAS7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GAS7 Gene

Proteins for GAS7 Gene

  • Protein details for GAS7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60861-GAS7_HUMAN
    Recommended name:
    Growth arrest-specific protein 7
    Protein Accession:
    O60861
    Secondary Accessions:
    • A8KAC2
    • B2RCK9
    • O43144
    • Q53Y77
    • Q7Z571

    Protein attributes for GAS7 Gene

    Size:
    476 amino acids
    Molecular mass:
    54371 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA23690.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for GAS7 Gene

    Alternative splice isoforms for GAS7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GAS7 Gene

Post-translational modifications for GAS7 Gene

No Post-translational modifications

No data available for DME Specific Peptides for GAS7 Gene

Domains & Families for GAS7 Gene

Gene Families for GAS7 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for GAS7 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with GAS7: view

No data available for UniProtKB/Swiss-Prot for GAS7 Gene

Function for GAS7 Gene

Molecular function for GAS7 Gene

GENATLAS Biochemistry:
growth arrest specific gene 7,50kDa,mouse homolog
UniProtKB/Swiss-Prot Function:
May play a role in promoting maturation and morphological differentiation of cerebellar neurons.

Phenotypes From GWAS Catalog for GAS7 Gene

Gene Ontology (GO) - Molecular Function for GAS7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003700 DNA binding transcription factor activity TAS 9736752
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with GAS7: view
genes like me logo Genes that share phenotypes with GAS7: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GAS7 Gene

Localization for GAS7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GAS7 Gene

Cytoplasm.

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 GAS7 gene
Compartment Confidence
nucleus 3
cytoskeleton 1
cytosol 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (2)
  • Focal adhesion sites (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GAS7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with GAS7: view

Pathways & Interactions for GAS7 Gene

No Data Available

SIGNOR curated interactions for GAS7 Gene

Activates:

Gene Ontology (GO) - Biological Process for GAS7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007050 cell cycle arrest TAS 9736752
GO:0007275 multicellular organism development IEA --
GO:0007399 nervous system development IEA --
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with GAS7: view

No data available for Pathways by source for GAS7 Gene

Drugs & Compounds for GAS7 Gene

No Compound Related Data Available

Transcripts for GAS7 Gene

Unigene Clusters for GAS7 Gene

Growth arrest-specific 7:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GAS7 Gene

No ASD Table

Relevant External Links for GAS7 Gene

GeneLoc Exon Structure for
GAS7
ECgene alternative splicing isoforms for
GAS7

Expression for GAS7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GAS7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GAS7 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x4.8).

Protein differential expression in normal tissues from HIPED for GAS7 Gene

This gene is overexpressed in Frontal cortex (24.2) and Testis (8.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for GAS7 Gene



NURSA nuclear receptor signaling pathways regulating expression of GAS7 Gene:

GAS7

SOURCE GeneReport for Unigene cluster for GAS7 Gene:

Hs.462214

Evidence on tissue expression from TISSUES for GAS7 Gene

  • Nervous system(5)
  • Skin(4.7)
  • Eye(4.4)
genes like me logo Genes that share expression patterns with GAS7: view

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GAS7 Gene

Orthologs for GAS7 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for GAS7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GAS7 33 34
  • 99.65 (n)
cow
(Bos Taurus)
Mammalia GAS7 33 34
  • 93.65 (n)
dog
(Canis familiaris)
Mammalia GAS7 33 34
  • 92.29 (n)
rat
(Rattus norvegicus)
Mammalia Gas7 33
  • 91.29 (n)
mouse
(Mus musculus)
Mammalia Gas7 33 16 34
  • 91.13 (n)
oppossum
(Monodelphis domestica)
Mammalia GAS7 34
  • 91 (a)
OneToOne
chicken
(Gallus gallus)
Aves GAS7 33 34
  • 79.55 (n)
lizard
(Anolis carolinensis)
Reptilia GAS7 34
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gas7 33
  • 77.54 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.24134 33
zebrafish
(Danio rerio)
Actinopterygii CABZ01102038.1 34
  • 87 (a)
OneToMany
gas7a 33 34
  • 76.17 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HOF1 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 33 (a)
OneToOne
Species where no ortholog for GAS7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for GAS7 Gene

ENSEMBL:
Gene Tree for GAS7 (if available)
TreeFam:
Gene Tree for GAS7 (if available)

Paralogs for GAS7 Gene

Paralogs for GAS7 Gene

genes like me logo Genes that share paralogs with GAS7: view

Variants for GAS7 Gene

Sequence variations from dbSNP and Humsavar for GAS7 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000021400 -- 9,949,457(-) C/G intron_variant
rs1000023850 -- 10,154,066(-) T/A genic_upstream_transcript_variant, intron_variant
rs1000034297 -- 9,932,473(-) G/A intron_variant
rs1000039968 -- 10,020,161(-) T/C genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000060032 -- 10,112,248(-) A/G genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for GAS7 Gene

Variant ID Type Subtype PubMed ID
dgv38n68 CNV loss 17160897
dgv5443n54 CNV gain 21841781
dgv559e214 CNV loss 21293372
dgv887e212 CNV loss 25503493
esv2670514 CNV deletion 23128226
esv2715633 CNV deletion 23290073
esv2715634 CNV deletion 23290073
esv3376171 CNV insertion 20981092
esv3582517 CNV loss 25503493
esv3582523 CNV loss 25503493
esv3582524 CNV loss 25503493
esv3639926 CNV gain 21293372
esv3639927 CNV loss 21293372
esv3639928 CNV loss 21293372
esv3892958 CNV loss 25118596
nsv1060957 CNV gain 25217958
nsv1061466 CNV gain 25217958
nsv1065401 CNV loss 25217958
nsv1133229 CNV tandem duplication 24896259
nsv1978 CNV insertion 18451855
nsv474610 CNV novel sequence insertion 20440878
nsv476132 CNV novel sequence insertion 20440878
nsv477662 CNV novel sequence insertion 20440878
nsv516119 CNV loss 19592680
nsv520771 CNV gain+loss 19592680
nsv833361 CNV gain 17160897
nsv833364 CNV gain 17160897
nsv833365 CNV gain 17160897

Variation tolerance for GAS7 Gene

Residual Variation Intolerance Score: 7.31% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.85; 17.82% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GAS7 Gene

Human Gene Mutation Database (HGMD)
GAS7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GAS7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GAS7 Gene

Disorders for GAS7 Gene

MalaCards: The human disease database

(4) MalaCards diseases for GAS7 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spastic hemiplegia
  • congenital hemiplegia
low tension glaucoma
  • normal tension glaucoma
glaucoma, primary open angle
  • poag
open-angle glaucoma
  • glaucoma simplex
- elite association - COSMIC cancer census association via MalaCards
Search GAS7 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GAS7_HUMAN
  • Note=A chromosomal aberration involving GAS7 is found in acute myeloid leukemia. Translocation t(11;17)(q23;p13) with KMT2A/MLL1. {ECO:0000269 PubMed:10706619}.

Additional Disease Information for GAS7

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with GAS7: view

No data available for Genatlas for GAS7 Gene

Publications for GAS7 Gene

  1. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PMID: 19851296) Oguri M … Yamada Y (American journal of hypertension 2010) 3 44 58
  2. Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PMID: 20198315) Yoshida T … Yamada Y (International journal of molecular medicine 2010) 3 44 58
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58
  5. Genetic analysis in a Dutch study sample identifies more ulcerative colitis susceptibility loci and shows their additive role in disease risk. (PMID: 19861958) Festen EA … Weersma RK (The American journal of gastroenterology 2010) 3 44 58

Products for GAS7 Gene

Sources for GAS7 Gene

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