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

Gene ID: 11138, updated on 5-Mar-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 activation of GTPase activity and intracellular protein transport. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis (RPKM 11.3), heart (RPKM 10.6) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
2q11.2
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (101007228..101151382, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (101465925..101610081, complement)
105.20220307 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
  • 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 (23) 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 activation of GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
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_2023_10

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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