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Aliases for GAS8 Gene

Aliases for GAS8 Gene

  • Growth Arrest Specific 8 2 3 5
  • Growth Arrest-Specific Protein 11 3 4
  • GAS-11 3 4
  • GAS11 3 4
  • Growth Arrest-Specific Protein 8 3
  • Growth Arrest-Specific 11 2
  • CILD33 3
  • GAS-8 4
  • DRC4 3

External Ids for GAS8 Gene

Previous HGNC Symbols for GAS8 Gene

  • GAS11

Previous GeneCards Identifiers for GAS8 Gene

  • GC16P091073
  • GC16P089787
  • GC16P089828
  • GC16P089831
  • GC16P088613
  • GC16P090089
  • GC16P075780

Summaries for GAS8 Gene

Entrez Gene Summary for GAS8 Gene

  • This gene includes 11 exons spanning 25 kb and maps to a region of chromosome 16 that is sometimes deleted in breast and prostrate cancer. The second intron contains an apparently intronless gene, C16orf3, that is transcribed in the opposite orientation. This gene is a putative tumor suppressor gene. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]

GeneCards Summary for GAS8 Gene

GAS8 (Growth Arrest Specific 8) is a Protein Coding gene. Diseases associated with GAS8 include Primary Ciliary Dyskinesia 33 and Primary Ciliary Dyskinesia. Among its related pathways are Activation of cAMP-Dependent PKA and GPCR Pathway. GO annotations related to this gene include Rab GTPase binding. An important paralog of this gene is ENSG00000283182.

UniProtKB/Swiss-Prot for GAS8 Gene

  • Cytoskeletal linker which binds microtubules and probably functions in axonemal and non-axonemal dynein regulation. May play a role in the spermatozoa motility (By similarity). May play a role in cilia motility (PubMed:26387594).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GAS8 Gene

Genomics for GAS8 Gene

Regulatory Elements for GAS8 Gene

Enhancers for GAS8 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16F090035 0.6 ENCODE 45.3 +16.4 16447 1.1 ZNF23 ZNF316 SCRT2 PRDM10 FOS NFE2 EMSY GAS8 GC16P090043 GAS8-AS1
GH16F090018 1.4 FANTOM5 ENCODE 16.3 +1.5 1477 5.3 PKNOX1 CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 FOS DBNDD1 DEF8 PRDM7 GAS8 FAM157C ENSG00000261172 URAHP GAS8-AS1 TUBB3 ENSG00000283182
GH16F089993 1.4 Ensembl ENCODE 12.7 -24.4 -24382 3.5 PKNOX1 ARNT ZFP64 ARID4B SIN3A ZNF2 SLC30A9 CBX5 ZNF416 ZNF207 AFG3L1P MC1R ENSG00000259877 SPG7 DBNDD1 GAS8 SNORD68 CDK10 ENSG00000268218 ZNF778
GH16F090032 0.9 ENCODE 16.6 +12.5 12539 0.2 HDGF ZNF133 INSM2 ZNF76 ZEB1 ZNF23 KLF7 ZNF548 ZNF391 SMARCA5 SNORD68 RPL13 LOC101927863 GAS8 ENSG00000259877 GAS8-AS1 GC16P090043
GH16F090098 0.9 Ensembl 15.8 +81.6 81573 6.4 HDGF HDAC1 ATF1 PKNOX1 MLX NFRKB ARID4B ZNF48 RARA SCRT2 GAS8 DEF8 TUBB8P7 DBNDD1 LOC105376786
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GAS8 on UCSC Golden Path with GeneCards custom track

Promoters for GAS8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000512437 -329 1801 ELF3 ZNF76 KLF17 ARID4B NFXL1 ZNF2 GLIS2 ZNF366 FOS KLF7

Genomic Location for GAS8 Gene

Chromosome:
16
Start:
90,019,629 bp from pter
End:
90,044,975 bp from pter
Size:
25,347 bases
Orientation:
Plus strand

Genomic View for GAS8 Gene

Genes around GAS8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GAS8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GAS8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GAS8 Gene

Proteins for GAS8 Gene

  • Protein details for GAS8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95995-GAS8_HUMAN
    Recommended name:
    Growth arrest-specific protein 8
    Protein Accession:
    O95995
    Secondary Accessions:
    • B2RCT1
    • B7Z4U1
    • G3V1L5
    • Q2M234

    Protein attributes for GAS8 Gene

    Size:
    478 amino acids
    Molecular mass:
    56356 Da
    Quaternary structure:
    • Interacts with microtubules.
    • Interacts with microtubules.

    Alternative splice isoforms for GAS8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GAS8 Gene

Post-translational modifications for GAS8 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for GAS8 Gene

Domains & Families for GAS8 Gene

Gene Families for GAS8 Gene

Protein Domains for GAS8 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

O95995

UniProtKB/Swiss-Prot:

GAS8_HUMAN :
  • Belongs to the GAS8 family.
Family:
  • Belongs to the GAS8 family.
genes like me logo Genes that share domains with GAS8: view

Function for GAS8 Gene

Molecular function for GAS8 Gene

UniProtKB/Swiss-Prot Function:
Cytoskeletal linker which binds microtubules and probably functions in axonemal and non-axonemal dynein regulation. May play a role in the spermatozoa motility (By similarity). May play a role in cilia motility (PubMed:26387594).

Gene Ontology (GO) - Molecular Function for GAS8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0008017 microtubule binding ISS --
GO:0017137 Rab GTPase binding IBA --
genes like me logo Genes that share ontologies with GAS8: view
genes like me logo Genes that share phenotypes with GAS8: view

Human Phenotype Ontology for GAS8 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for GAS8 Gene

miRTarBase miRNAs that target GAS8

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for GAS8 Gene

Localization for GAS8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GAS8 Gene

Cytoplasm. Cytoplasm, cytoskeleton. Cell projection, cilium, flagellum. Cytoplasm, cytoskeleton, cilium axoneme. Cytoplasm, cytoskeleton, cilium basal body. Golgi apparatus. Note=Associates with microtubules (PubMed:10969087). Localized to the cytoplasm of round spermatids, the tails of elongating spermatids, and mature spermatid tail bundles protruding into the lumen, and in the flagellum of epididymal spermatozoa (By similarity). {ECO:0000250 UniProtKB:Q60779}.

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 GAS8 gene
Compartment Confidence
cytoskeleton 5
golgi apparatus 4
nucleus 3
cytosol 3
plasma membrane 2

Gene Ontology (GO) - Cellular Components for GAS8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005794 Golgi apparatus IBA --
GO:0005856 cytoskeleton IEA --
GO:0005874 microtubule IEA,IDA 10969087
GO:0005929 cilium IEA,IDA 16643277
genes like me logo Genes that share ontologies with GAS8: view

Pathways & Interactions for GAS8 Gene

genes like me logo Genes that share pathways with GAS8: view

Gene Ontology (GO) - Biological Process for GAS8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008285 negative regulation of cell proliferation TAS 9790751
GO:0030317 flagellated sperm motility ISS --
GO:0034613 cellular protein localization IBA --
GO:0048870 cell motility IEA --
GO:0060294 cilium movement involved in cell motility IMP 27472056
genes like me logo Genes that share ontologies with GAS8: view

No data available for SIGNOR curated interactions for GAS8 Gene

Transcripts for GAS8 Gene

Unigene Clusters for GAS8 Gene

Growth arrest-specific 8:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GAS8 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15a · 15b
SP1: - -
SP2: -
SP3: - -
SP4:
SP5: - - - - - -
SP6: -
SP7:
SP8:

Relevant External Links for GAS8 Gene

GeneLoc Exon Structure for
GAS8
ECgene alternative splicing isoforms for
GAS8

Expression for GAS8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GAS8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for GAS8 Gene

This gene is overexpressed in Stomach (33.3) and Plasma (22.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for GAS8 Gene



Protein tissue co-expression partners for GAS8 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GAS8 Gene:

GAS8

SOURCE GeneReport for Unigene cluster for GAS8 Gene:

Hs.431792

mRNA Expression by UniProt/SwissProt for GAS8 Gene:

O95995-GAS8_HUMAN
Tissue specificity: Expressed in respiratory epithelial cells (at protein level) (PubMed:26387594). Expressed in the heart, skeletal muscle, pancreas and liver. Weakly or not expressed in brain, placenta, lung and kidney (PubMed:9790751).
genes like me logo Genes that share expression patterns with GAS8: view

Primer Products

No data available for mRNA differential expression in normal tissues for GAS8 Gene

Orthologs for GAS8 Gene

This gene was present in the common ancestor of animals.

Orthologs for GAS8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GAS8 34 35
  • 98.4 (n)
cow
(Bos Taurus)
Mammalia GAS8 34 35
  • 88.01 (n)
dog
(Canis familiaris)
Mammalia GAS8 34 35
  • 88.01 (n)
mouse
(Mus musculus)
Mammalia Gas8 34 16 35
  • 86.82 (n)
rat
(Rattus norvegicus)
Mammalia Gas8 34
  • 86.61 (n)
oppossum
(Monodelphis domestica)
Mammalia GAS8 35
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GAS8 35
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves GAS8 34 35
  • 75.76 (n)
lizard
(Anolis carolinensis)
Reptilia GAS8 35
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gas8 34
  • 71.98 (n)
zebrafish
(Danio rerio)
Actinopterygii gas8 34 35
  • 67.17 (n)
-- 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005850 34
  • 59.05 (n)
fruit fly
(Drosophila melanogaster)
Insecta Gas8 34 35
  • 53.73 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4120 35
  • 69 (a)
OneToOne
Species where no ortholog for GAS8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • 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 GAS8 Gene

ENSEMBL:
Gene Tree for GAS8 (if available)
TreeFam:
Gene Tree for GAS8 (if available)

Paralogs for GAS8 Gene

Paralogs for GAS8 Gene

(1) SIMAP similar genes for GAS8 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with GAS8: view

Variants for GAS8 Gene

Sequence variations from dbSNP and Humsavar for GAS8 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs566755911 Pathogenic 90,040,357(+) AGGTG(C/T)AGCAG nc-transcript-variant, reference, stop-gained
rs748688175 Pathogenic 90,037,764(+) CAGTG(A/C/T)ACAAA reference, synonymous-codon, stop-gained
rs755553133 Pathogenic 90,037,837(+) AGCAG(C/T)GATTC reference, stop-gained
rs769078996 Likely benign 90,029,209(+) GCAGG(-/CTGCGGGGCAGC/GCTGCCCCGCAG)CTACG intron-variant, nc-transcript-variant
rs587783067 Uncertain significance 90,037,303(+) CAGAA(C/G)AAGCG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for GAS8 Gene

Variant ID Type Subtype PubMed ID
nsv952080 CNV deletion 24416366
nsv573842 CNV loss 21841781
nsv573841 CNV loss 21841781
nsv573810 CNV loss 21841781
nsv573799 CNV gain 21841781
nsv509641 CNV insertion 20534489
nsv482951 CNV loss 15286789
nsv472797 CNV novel sequence insertion 20440878
nsv471120 CNV gain 18288195
nsv471119 CNV loss 18288195
nsv457626 CNV loss 19166990
nsv428331 CNV gain+loss 18775914
nsv1933 CNV insertion 18451855
nsv1118586 CNV duplication 24896259
nsv1070787 CNV deletion 25765185
nsv1067164 CNV gain+loss 25217958
nsv1066499 CNV loss 25217958
nsv1064351 CNV gain+loss 25217958
nsv1062080 CNV loss 25217958
esv3639608 CNV loss 21293372
esv3639607 CNV gain 21293372
esv3639606 CNV gain 21293372
esv3639603 CNV gain 21293372
esv3553923 CNV deletion 23714750
esv2762221 CNV gain+loss 21179565
esv2676928 CNV deletion 23128226
dgv3067n100 CNV gain 25217958

Variation tolerance for GAS8 Gene

Residual Variation Intolerance Score: 96.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.08; 68.99% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GAS8 Gene

Human Gene Mutation Database (HGMD)
GAS8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GAS8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GAS8 Gene

Disorders for GAS8 Gene

MalaCards: The human disease database

(3) MalaCards diseases for GAS8 Gene - From: ClinVar, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
primary ciliary dyskinesia 33
  • cild33
primary ciliary dyskinesia
  • ciliary motility disorder
bronchiectasis
  • kartagener syndrome
- elite association - COSMIC cancer census association via MalaCards
Search GAS8 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GAS8_HUMAN
  • Ciliary dyskinesia, primary, 33 (CILD33) [MIM:616726]: A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD33 inheritance is autosomal recessive. {ECO:0000269 PubMed:26387594}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for GAS8

Genetic Association Database (GAD)
GAS8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GAS8
genes like me logo Genes that share disorders with GAS8: view

No data available for Genatlas for GAS8 Gene

Publications for GAS8 Gene

  1. Characterization and screening for mutations of the growth arrest- specific 11 (GAS11) and C16orf3 genes at 16q24.3 in breast cancer. (PMID: 9790751) Whitmore S.A. … Callen D.F. (Genomics 1998) 2 3 4 22 64
  2. T lymphocyte-triggering factor of African trypanosomes is associated with the flagellar fraction of the cytoskeleton and represents a new family of proteins that are present in several divergent eukaryotes. (PMID: 10969087) Hill K.L. … Donelson J.E. (J. Biol. Chem. 2000) 3 4 22 64
  3. Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex. (PMID: 26387594) Olbrich H. … Omran H. (Am. J. Hum. Genet. 2015) 3 4 64
  4. Expanding the role of the dynein regulatory complex to non-axonemal functions: association of GAS11 with the Golgi apparatus. (PMID: 16643277) Colantonio J.R. … Hill K.L. (Traffic 2006) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for GAS8 Gene

Sources for GAS8 Gene

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