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

Gene ID: 11138, updated on 25-Nov-2021

Summary

Official Symbol
TBC1D8provided by HGNC
Official Full Name
TBC1 domain family member 8provided by HGNC
Primary source
HGNC:HGNC:17791
See related
Ensembl:ENSG00000204634
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
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

See TBC1D8 in Genome Data Viewer
Location:
2q11.2
Exon count:
20
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (101007228..101151382, complement)
105.20201022 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 neuronal PAS domain protein 2 Neighboring gene Sharpr-MPRA regulatory region 12407 Neighboring gene NPAS2 antisense RNA 1 Neighboring gene ubiquitin specific peptidase 15 pseudogene Neighboring gene uncharacterized LOC105373510 Neighboring gene ribosomal protein L31 Neighboring gene BBSome interacting protein 1 pseudogene 1 Neighboring gene VISTA enhancer hs1933 Neighboring gene TBC1D8 antisense RNA 1 Neighboring gene uncharacterized LOC105373511 Neighboring gene CCR4-NOT transcription complex subunit 11

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
An integration of genome-wide association study and gene expression profiling to prioritize the discovery of novel susceptibility Loci for osteoporosis-related traits.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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

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_001102426.3NP_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
    O95759
    Related
    ENSP00000366036.4, ENST00000376840.8
    Conserved Domains (3) summary
    smart00164
    Location:505711
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    cd13349
    Location:156254
    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:296391
    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_001330348.2NP_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:520726
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    cd13349
    Location:171269
    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:311406
    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: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    101007228..101151382 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.
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