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    TBC1D8 TBC1 domain family member 8 [ Homo sapiens (human) ]

    Gene ID: 11138, updated on 28-Oct-2024

    Summary

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    Official Symbol
    TBC1D8provided by HGNC
    Official Full Name
    TBC1 domain family member 8provided by HGNC
    Primary source
    HGNC:HGNC:17791
    See related
    Ensembl:ENSG00000204634 AllianceGenome:HGNC:17791
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AD3; VRP; HBLP1; GRAMD8; TBC1D8A
    Summary
    Predicted to enable GTPase activator activity. Predicted to be involved in blood circulation and positive regulation of cell population proliferation. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in testis (RPKM 11.3), heart (RPKM 10.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TBC1D8 in Genome Data Viewer
    Location:
    2q11.2
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (101007228..101151382, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (101465925..101610081, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (101623690..101767844, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373508 Neighboring gene neuronal PAS domain protein 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:101504140-101504909 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:101518843-101520042 Neighboring gene Sharpr-MPRA regulatory region 12407 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16295 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:101599909-101600408 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:101599407-101599908 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:101601340-101601535 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:101607367-101608009 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:101611812-101612312 Neighboring gene NPAS2 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16296 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:101619087-101619741 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:101621211-101621711 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16297 Neighboring gene ubiquitin specific peptidase 15 pseudogene Neighboring gene uncharacterized LOC105373510 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16298 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:101661499-101662000 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:101663058-101663602 Neighboring gene ribosomal protein L31 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11818 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11819 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16299 Neighboring gene BBSome interacting protein 1 pseudogene 1 Neighboring gene VISTA enhancer hs1933 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:101740925-101742124 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11820 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr2:101768548-101769048 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:101775410-101776609 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:101779352-101779869 Neighboring gene TBC1D8 antisense RNA 1 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr2:101866397-101866896 Neighboring gene uncharacterized LOC124906053 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:101869253-101870165

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. TBC1D8 Amplification Drives Tumorigenesis through Metabolism Reprogramming in Ovarian Cancer. Chen M, et al. Theranostics, 2019. PMID 30809301, Free PMC Article
    2. Antisense display--a method for functional gene screening: evaluation in a cell-free system and isolation of angiogenesis-related genes. Yonekura H, et al. Nucleic Acids Res, 1999 Jul 1. PMID 10373574, Free PMC Article
    3. A Rab-GAP TBC domain protein binds hepatitis C virus NS5A and mediates viral replication. Sklan EH, et al. J Virol, 2007 Oct. PMID 17686842, Free PMC Article
    4. An integration of genome-wide association study and gene expression profiling to prioritize the discovery of novel susceptibility Loci for osteoporosis-related traits. Hsu YH, et al. PLoS Genet, 2010 Jun 10. PMID 20548944, Free PMC Article
    5. Involvement of TRAF4 in oxidative activation of c-Jun N-terminal kinase. Xu YC, et al. J Biol Chem, 2002 Aug 2. PMID 12023963

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. TBC1D8 drives ovarian cancer tumorigenesis and metabolic reprogramming and serves as an independent prognosis factor for ovarian cancer patients
      Title: TBC1D8 Amplification Drives Tumorigenesis through Metabolism Reprogramming in Ovarian Cancer.
    2. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: An integration of genome-wide association study and gene expression profiling to prioritize the discovery of novel susceptibility Loci for osteoporosis-related traits.
    3. isolated a TBC Rab-GAP cellular binding partner interacting with the N terminus of HCV NS5A; depleting the expression of this partner severely impairs HCV RNA replication with no obvious effect on cell viability
      Title: A Rab-GAP TBC domain protein binds hepatitis C virus NS5A and mediates viral replication.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    An integration of genome-wide association study and gene expression profiling to prioritize the discovery of novel susceptibility Loci for osteoporosis-related traits.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in blood circulation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of cell population proliferation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    NOT involved_in regulation of cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    TBC1 domain family member 8
    Names
    BUB2-like protein 1
    TBC1 domain family, member 8 (with GRAM domain)
    TBC1 domain family, member 8A
    vascular Rab-GAP/TBC-containing protein

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001102426.3 → NP_001095896.1  TBC1 domain family member 8 isoform 2

      See identical proteins and their annotated locations for NP_001095896.1

      Status: VALIDATED

      Source sequence(s)
      AB017114, AL134328, BE842460, BQ673509, CA429937, CD722231, DB079019, DB201187, DC415735
      Consensus CDS
      CCDS46375.1
      UniProtKB/Swiss-Prot
      A6NDL4, A8K9W1, B9A6K4, O95759, Q53SQ4, Q9UQ32
      Related
      ENSP00000366036.4, ENST00000376840.8
      Conserved Domains (3) summary
      smart00164
      Location:505 → 711
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cd13349
      Location:156 → 254
      PH-GRAM1_TBC1D8; TBC1 domain family member 8 (TBC1D8; also called Vascular Rab-GAP/TBC-containing protein) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain, repeat 1
      cd13353
      Location:296 → 391
      PH-GRAM2_TBC1D8; TBC1 domain family member 8 (TBC1D8; also called Vascular Rab-GAP/TBC-containing protein) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain, repeat 2

    2. NM_001330348.2 → NP_001317277.1  TBC1 domain family member 8 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AC013722, AC016738
      Consensus CDS
      CCDS82486.1
      UniProtKB/TrEMBL
      J3KQ40
      Related
      ENSP00000386856.1, ENST00000409318.2
      Conserved Domains (3) summary
      smart00164
      Location:520 → 726
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cd13349
      Location:171 → 269
      PH-GRAM1_TBC1D8; TBC1 domain family member 8 (TBC1D8; also called Vascular Rab-GAP/TBC-containing protein) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain, repeat 1
      cd13353
      Location:311 → 406
      PH-GRAM2_TBC1D8; TBC1 domain family member 8 (TBC1D8; also called Vascular Rab-GAP/TBC-containing protein) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain, repeat 2

    RNA

    1. NR_138475.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC013722, AC016738

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      101007228..101151382 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      101465925..101610081 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_007063.3: Suppressed sequence

      Description
      NM_007063.3: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O95759.3 GenPept UniProtKB/Swiss-Prot:O95759

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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