Human Gene GAS8 (uc002fqh.2) Description and Page Index
  Description: Homo sapiens growth arrest-specific 8 (GAS8), transcript variant 2, non-coding RNA.
RefSeq Summary (NM_001481): 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].
Transcript (Including UTRs)
   Position: hg19 chr16:90,086,069-90,111,379 Size: 25,311 Total Exon Count: 11 Strand: +
Coding Region
   Position: hg19 chr16:90,097,866-90,109,753 Size: 11,888 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:90,086,069-90,111,379)mRNA (may differ from genome)Protein (395 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHGNCHPRDLynxMGIneXtProt
OMIMPubMedReactomeStanford SOURCETreefamUniProtKB

-  Comments and Description Text from UniProtKB
  ID: GAS8_HUMAN
DESCRIPTION: RecName: Full=Growth arrest-specific protein 8; Short=GAS-8; AltName: Full=Growth arrest-specific protein 11; Short=GAS-11;
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).
INTERACTION: O76071:CIAO1; NbExp=1; IntAct=EBI-1052570, EBI-725145;
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton (By similarity). Cytoplasm, cytoskeleton, flagellum basal body (By similarity). Golgi apparatus (By similarity). Note=Associates with microtubules (By similarity). 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).
TISSUE SPECIFICITY: Expressed in the heart, skeletal muscle, pancreas and liver. Weakly or not expressed in brain, placenta, lung and kidney.
SIMILARITY: Belongs to the GAS8 family.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): GAS8
CDC HuGE Published Literature: GAS8
Positive Disease Associations: Heart Failure
Related Studies:
  1. Heart Failure
    , , . [PubMed 0]
  2. Heart Failure
    , , . [PubMed 0]

-  MalaCards Disease Associations
  MalaCards Gene Search: GAS8
Diseases sorted by gene-association score: ciliary dyskinesia, primary, 33* (919), primary ciliary dyskinesia 33: gas8-related primary ciliary dyskinesia* (500), primary ciliary dyskinesia (4)
* = Manually curated disease association

-  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: 20.44 RPKM in Pituitary
Total median expression: 359.67 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 -189.30477-0.397 Picture PostScript Text
3' UTR -659.361626-0.406 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
IPR025593 - GAS8

Pfam Domains:
PF13851 - Growth-arrest specific micro-tubule binding

ModBase Predicted Comparative 3D Structure on O95995
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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 orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003674 molecular_function
GO:0005515 protein binding
GO:0008017 microtubule binding
GO:0017137 Rab GTPase binding

Biological Process:
GO:0003351 epithelial cilium movement
GO:0007368 determination of left/right symmetry
GO:0007420 brain development
GO:0008285 negative regulation of cell proliferation
GO:0030317 flagellated sperm motility
GO:0034613 cellular protein localization
GO:0035082 axoneme assembly
GO:0045880 positive regulation of smoothened signaling pathway
GO:0048870 cell motility
GO:0060294 cilium movement involved in cell motility
GO:1903566 positive regulation of protein localization to cilium
GO:1904526 regulation of microtubule binding

Cellular Component:
GO:0005737 cytoplasm
GO:0005794 Golgi apparatus
GO:0005856 cytoskeleton
GO:0005874 microtubule
GO:0005929 cilium
GO:0005930 axoneme
GO:0015630 microtubule cytoskeleton
GO:0031514 motile cilium
GO:0036064 ciliary basal body
GO:0036126 sperm flagellum
GO:0042995 cell projection
GO:0097729 9+2 motile cilium


-  Descriptions from all associated GenBank mRNAs
  AK126608 - Homo sapiens cDNA FLJ44645 fis, clone BRACE2033786, weakly similar to Homo sapiens growth arrest-specific 8 (GAS8).
LF212254 - JP 2014500723-A/19757: Polycomb-Associated Non-Coding RNAs.
AK297857 - Homo sapiens cDNA FLJ56118 complete cds, highly similar to Growth-arrest-specific protein 8.
AF050079 - Homo sapiens growth arrest specific 11 (GAS11) mRNA, complete cds.
GQ891399 - Homo sapiens clone HEL-S-110 epididymis secretory sperm binding protein mRNA, complete cds.
BC104785 - Homo sapiens growth arrest-specific 8, mRNA (cDNA clone MGC:132445 IMAGE:8143788), complete cds.
BC112121 - Homo sapiens growth arrest-specific 8, mRNA (cDNA clone MGC:138326 IMAGE:8327589), complete cds.
AK303505 - Homo sapiens cDNA FLJ59808 complete cds, highly similar to Growth-arrest-specific protein 8.
AK315261 - Homo sapiens cDNA, FLJ96270, Homo sapiens growth arrest-specific 8 (GAS8), mRNA.
AK294050 - Homo sapiens cDNA FLJ51714 complete cds, highly similar to Growth-arrest-specific protein 8.
AK304731 - Homo sapiens cDNA FLJ55405 complete cds, highly similar to Growth-arrest-specific protein 8.
BX647947 - Homo sapiens mRNA; cDNA DKFZp686C0751 (from clone DKFZp686C0751).
AK293958 - Homo sapiens cDNA FLJ52408 complete cds, highly similar to Growth-arrest-specific protein 8.
KJ896862 - Synthetic construct Homo sapiens clone ccsbBroadEn_06256 GAS8-like gene, encodes complete protein.
CR749499 - Homo sapiens mRNA; cDNA DKFZp686C09209 (from clone DKFZp686C09209).
AK127378 - Homo sapiens cDNA FLJ45454 fis, clone BRSTN2008475, moderately similar to Homo sapiens growth arrest-specific 8 (GAS8).
JD241463 - Sequence 222487 from Patent EP1572962.
JD040807 - Sequence 21831 from Patent EP1572962.
JD322543 - Sequence 303567 from Patent EP1572962.
JD519871 - Sequence 500895 from Patent EP1572962.
JD139915 - Sequence 120939 from Patent EP1572962.
JD406913 - Sequence 387937 from Patent EP1572962.
JD491842 - Sequence 472866 from Patent EP1572962.
JD531935 - Sequence 512959 from Patent EP1572962.
JD176716 - Sequence 157740 from Patent EP1572962.
JD104092 - Sequence 85116 from Patent EP1572962.
JD179456 - Sequence 160480 from Patent EP1572962.
JD184724 - Sequence 165748 from Patent EP1572962.
JD314848 - Sequence 295872 from Patent EP1572962.
JD097976 - Sequence 79000 from Patent EP1572962.
JD347593 - Sequence 328617 from Patent EP1572962.
JD344517 - Sequence 325541 from Patent EP1572962.
JD445882 - Sequence 426906 from Patent EP1572962.
JD038564 - Sequence 19588 from Patent EP1572962.
JD420347 - Sequence 401371 from Patent EP1572962.
JD311468 - Sequence 292492 from Patent EP1572962.
JD405596 - Sequence 386620 from Patent EP1572962.
JD125294 - Sequence 106318 from Patent EP1572962.
JD335183 - Sequence 316207 from Patent EP1572962.
JD426269 - Sequence 407293 from Patent EP1572962.
JD062549 - Sequence 43573 from Patent EP1572962.
JD202103 - Sequence 183127 from Patent EP1572962.
JD165859 - Sequence 146883 from Patent EP1572962.
JD487406 - Sequence 468430 from Patent EP1572962.
JD436890 - Sequence 417914 from Patent EP1572962.
JD454631 - Sequence 435655 from Patent EP1572962.
JD116374 - Sequence 97398 from Patent EP1572962.
JD327301 - Sequence 308325 from Patent EP1572962.
JD523952 - Sequence 504976 from Patent EP1572962.
JD242048 - Sequence 223072 from Patent EP1572962.
JD262638 - Sequence 243662 from Patent EP1572962.
JD563835 - Sequence 544859 from Patent EP1572962.
MA447831 - JP 2018138019-A/19757: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: B2RCT1, BC036781, GAS11, GAS8_HUMAN, NM_001481, NP_001472, O95995, Q2M234
UCSC ID: uc002fqh.2
RefSeq Accession: NM_001481
Protein: O95995 (aka GAS8_HUMAN)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: BC036781.1
exon count: 11CDS single in 3' UTR: no RNA size: 3117
ORF size: 1188CDS single in intron: no Alignment % ID: 99.74
txCdsPredict score: 2318.00frame shift in genome: no % Coverage: 99.97
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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.