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TBC1D8B TBC1 domain family member 8B [ Homo sapiens (human) ]

Gene ID: 54885, updated on 27-Jun-2020

Summary

Official Symbol
TBC1D8Bprovided by HGNC
Official Full Name
TBC1 domain family member 8Bprovided by HGNC
Primary source
HGNC:HGNC:24715
See related
Ensembl:ENSG00000133138 MIM:301027
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
NPHS20; GRAMD8B
Summary
This gene encodes a protein with a TBC (Tre-2/Bub2/CDC16) domain. Some mammalian proteins with this domain have been shown to function as Rab-GAPs by binding to specific Rab proteins and affecting their GTPase activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]
Expression
Broad expression in adrenal (RPKM 10.0), thyroid (RPKM 3.7) and 23 other tissues See more
Orthologs

Genomic context

See TBC1D8B in Genome Data Viewer
Location:
Xq22.3
Exon count:
22
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (106802673..106876150)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (106045919..106119380)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene RPA1 related single stranded DNA binding protein, X-linked Neighboring gene microRNA 548an Neighboring gene ring finger protein 128 Neighboring gene ripply transcriptional repressor 1 Neighboring gene claudin 2 Neighboring gene MORC family CW-type zinc finger 4

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

Phenotypes

Associated conditions

Description Tests
NEPHROTIC SYNDROME, TYPE 20
MedGen: C5193011 OMIM: 301028 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ20298

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Rab GTPase binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
activation of GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glomerular filtration IMP
Inferred from Mutant Phenotype
more info
PubMed 
intracellular protein transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
vesicle-mediated transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
TBC1 domain family member 8B
Names
RP11-321G1.1
TBC1 domain family, member 8B (with GRAM domain)

NCBI Reference Sequences (RefSeq)

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_021284.1 RefSeqGene

    Range
    4985..78462
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_017752.3NP_060222.2  TBC1 domain family member 8B isoform a

    See identical proteins and their annotated locations for NP_060222.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AB449890, AL391315, AL591849, BQ014086
    Consensus CDS
    CCDS14522.1
    UniProtKB/Swiss-Prot
    Q0IIM8
    Related
    ENSP00000349781.5, ENST00000357242.10
    Conserved Domains (3) summary
    smart00164
    Location:486694
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    cd13352
    Location:296388
    PH-GRAM2_TBC1D8B; TBC1 domain family member 8B (TBC1D8B) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain, repeat 2
    cd13350
    Location:156254
    PH-GRAM1_TBC1D8B; TBC1 domain family member 8B (TBC1D8B) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain, repeat 1
  2. NM_198881.2NP_942582.1  TBC1 domain family member 8B isoform b

    See identical proteins and their annotated locations for NP_942582.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks several exons and includes an alternate 3_ terminal exon, compared to variant 1. It encodes isoform b which is shorter and has a distinct C-terminus, compared to isoform a.
    Source sequence(s)
    AL391315, BC122564, CB243872
    Consensus CDS
    CCDS14523.1
    UniProtKB/Swiss-Prot
    Q0IIM8
    Related
    ENSP00000310675.2, ENST00000310452.6
    Conserved Domains (3) summary
    smart00164
    Location:486608
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    cd13352
    Location:296388
    PH-GRAM2_TBC1D8B; TBC1 domain family member 8B (TBC1D8B) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain, repeat 2
    cd13350
    Location:156254
    PH-GRAM1_TBC1D8B; TBC1 domain family member 8B (TBC1D8B) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain, repeat 1

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    106802673..106876150
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006724669.1XP_006724732.1  TBC1 domain family member 8B isoform X1

    Conserved Domains (3) summary
    smart00164
    Location:436644
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    cd13352
    Location:296388
    PH-GRAM2_TBC1D8B; TBC1 domain family member 8B (TBC1D8B) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain, repeat 2
    cd13350
    Location:156254
    PH-GRAM1_TBC1D8B; TBC1 domain family member 8B (TBC1D8B) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain, repeat 1
  2. XM_006724670.4XP_006724733.1  TBC1 domain family member 8B isoform X2

    Conserved Domains (3) summary
    smart00164
    Location:388596
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    cd13352
    Location:198290
    PH-GRAM2_TBC1D8B; TBC1 domain family member 8B (TBC1D8B) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain, repeat 2
    cd13350
    Location:58156
    PH-GRAM1_TBC1D8B; TBC1 domain family member 8B (TBC1D8B) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain, repeat 1

RNA

  1. XR_001755701.1 RNA Sequence

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