Basic Information

Symbol
TBC1D8B
RNA class
mRNA
Alias
TBC1 Domain Family Member 8B RP11-321G1.1 GRAMD8B TBC1 Domain Family, Member 8B (With GRAM Domain) FLJ20298 NPHS20
Location (GRCh38)
X:106802673-106876150
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Sudden cardiac death diagnosis
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_017752.3
Sequence length
5729.0 nt
GC content
0.3737

Transcripts

ID Sequence Length GC content
NM_017752.3 NCBI
GGCAAUCUCUCUGCCUACGUGGGAGAGAAGGGAGGGUUGGGGGAAGUGU… 5729 nt 0.3737
NM_198881.2 NCBI
GGCAAUCUCUCUGCCUACGUGGGAGAGAAGGGAGGGUUGGGGGAAGUGU… 2607 nt 0.4077
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]

Forensic Context

A study in humans demonstrated that the TBC1D8B mRNA showed increased expression in platelets from patients with ST-segment elevation myocardial infarction (STEMI) compared to those with non-STEMI [Eicher et al. DOI:10.3109/09537104.2015.1083543].