U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

    GAS8 growth arrest specific 8 [ Homo sapiens (human) ]

    Gene ID: 2622, updated on 6-Jun-2024

    Summary

    Official Symbol
    GAS8provided by HGNC
    Official Full Name
    growth arrest specific 8provided by HGNC
    Primary source
    HGNC:HGNC:4166
    See related
    Ensembl:ENSG00000141013 MIM:605178; AllianceGenome:HGNC:4166
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DRC4; GAS11; CILD33
    Summary
    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]
    Expression
    Ubiquitous expression in testis (RPKM 6.8), thyroid (RPKM 6.8) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See GAS8 in Genome Data Viewer
    Location:
    16q24.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (90019633..90044960)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (96105808..96131173)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (90086041..90111368)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11431 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:90039036-90040019 Neighboring gene CENPB DNA-binding domain containing 1, pseudogene Neighboring gene AFG3 like matrix AAA peptidase subunit 1, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr16:90054784-90054958 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:90059900-90060881 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:90061681-90062880 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_46884 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_46891 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:90066749-90066899 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_46902 Neighboring gene dysbindin domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7936 Neighboring gene Sharpr-MPRA regulatory region 21 Neighboring gene GAS8 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:90112831-90113344 Neighboring gene urate (hydroxyiso-) hydrolase, pseudogene Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:90123853-90125052 Neighboring gene PR/SET domain 7 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7937 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11434 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11435 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:90148312-90148967 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:90148968-90149622 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:90159897-90160670 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:90160671-90161443 Neighboring gene tubulin beta 8 class VIII pseudogene 7

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Primary ciliary dyskinesia 33
    MedGen: C4225230 OMIM: 616726 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide association study of tanning phenotype in a population of European ancestry.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC138326

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables microtubule binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables molecular_function ND
    No biological Data available
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables small GTPase binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in axoneme assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in brain development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cilium movement involved in cell motility IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in determination of left/right symmetry IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in epithelial cilium movement involved in extracellular fluid movement IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in establishment of localization in cell IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in flagellated sperm motility IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in flagellated sperm motility ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of cell population proliferation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of protein localization to cilium IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of smoothened signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein localization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of microtubule binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in axoneme IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in ciliary basal body ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cilium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in microtubule IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in microtubule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in motile cilium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in motile cilium ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    located_in sperm flagellum ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    dynein regulatory complex subunit 4
    Names
    GAS-11
    epididymis secretory sperm binding protein
    growth arrest-specific protein 11
    growth arrest-specific protein 8

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_046598.1 RefSeqGene

      Range
      8052..30332
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001286205.2NP_001273134.1  dynein regulatory complex subunit 4 isoform b

      See identical proteins and their annotated locations for NP_001273134.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site at the 5' end of an exon compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a.
      Source sequence(s)
      AF050079, AK293958, BC104785, BX647947
      Consensus CDS
      CCDS73932.1
      UniProtKB/TrEMBL
      A0A087WZT7, B7Z1U9
      Related
      ENSP00000482877.1, ENST00000620723.4
      Conserved Domains (2) summary
      COG1196
      Location:6262
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam13851
      Location:138337
      GAS; Growth-arrest specific micro-tubule binding
    2. NM_001286208.2NP_001273137.1  dynein regulatory complex subunit 4 isoform c

      See identical proteins and their annotated locations for NP_001273137.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate splice site at the 5' end of an exon and lacks an alternate internal exon compared to variant 1. The resulting isoform (c) is shorter at the N-terminus compared to isoform a.
      Source sequence(s)
      AC133919, AF050079, BC104785, BX647947
      UniProtKB/Swiss-Prot
      O95995
      Conserved Domains (1) summary
      pfam13851
      Location:29228
      GAS; Growth-arrest specific micro-tubule binding
    3. NM_001286209.2NP_001273138.1  dynein regulatory complex subunit 4 isoform d

      See identical proteins and their annotated locations for NP_001273138.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (d) is shorter at the N-terminus compared to isoform a.
      Source sequence(s)
      AC133919, AF050079, AK297857, BC104785, BX647947, DA504655, DC370728
      Consensus CDS
      CCDS67101.1
      UniProtKB/TrEMBL
      B7Z1U9
      Related
      ENSP00000440977.1, ENST00000536122.7
      Conserved Domains (2) summary
      COG1196
      Location:47320
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam13851
      Location:196395
      GAS; Growth-arrest specific micro-tubule binding
    4. NM_001481.3NP_001472.1  dynein regulatory complex subunit 4 isoform a

      See identical proteins and their annotated locations for NP_001472.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AF050079, BC104785, BX647947
      Consensus CDS
      CCDS10992.1
      UniProtKB/Swiss-Prot
      B2RCT1, B7Z4U1, G3V1L5, O95995, Q2M234
      UniProtKB/TrEMBL
      A0A384MR00, B7Z1U9
      Related
      ENSP00000268699.4, ENST00000268699.9
      Conserved Domains (2) summary
      pfam13851
      Location:221420
      GAS; Growth-arrest specific micro-tubule binding
      cl25732
      Location:72345
      SMC_N; RecF/RecN/SMC N terminal domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      90019633..90044960
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011522992.3XP_011521294.1  dynein regulatory complex subunit 4 isoform X1

      See identical proteins and their annotated locations for XP_011521294.1

      UniProtKB/TrEMBL
      A0A087WZT7, B7Z1U9
      Conserved Domains (2) summary
      COG1196
      Location:6262
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam13851
      Location:138337
      GAS; Growth-arrest specific micro-tubule binding
    2. XM_006721175.4XP_006721238.1  dynein regulatory complex subunit 4 isoform X1

      See identical proteins and their annotated locations for XP_006721238.1

      UniProtKB/TrEMBL
      A0A087WZT7, B7Z1U9
      Conserved Domains (2) summary
      COG1196
      Location:6262
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam13851
      Location:138337
      GAS; Growth-arrest specific micro-tubule binding

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      96105808..96131173
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054380021.1XP_054235996.1  dynein regulatory complex subunit 4 isoform X1

      UniProtKB/TrEMBL
      A0A087WZT7, B7Z1U9
    2. XM_054380020.1XP_054235995.1  dynein regulatory complex subunit 4 isoform X1

      UniProtKB/TrEMBL
      A0A087WZT7, B7Z1U9

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NR_023348.1: Suppressed sequence

      Description
      NR_023348.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.