TBC1D8B TBC1 domain family member 8B

Gene ID: 54885, updated on 16-Apr-2024
Gene type: protein coding
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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis. GeneReviews: Not available
Nephrotic syndrome, type 20 MedGen: C5193011OMIM: 301028GeneReviews: Genetic Steroid-Resistant Nephrotic Syndrome Overview	See labs

Genomic context

Location:: Xq22.3

Sequence:: Chromosome: X; NC_000023.11 (106802673..106876150)

Total number of exons:: 22

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for TBC1D8B variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
TBC1D8B @ LOVD
Variation Viewer
Related Variants

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