Transmembrane Protein 38B

Alternative Names

  • TMEM38B
  • Trimeric Intracellular Cation Channel Type B
  • TRICB
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OMIM Number

611236

NCBI Gene ID

55151

Uniprot ID

Q9NVV0

Length

82,089 bases

No. of Exons

10

No. of isoforms

1

Protein Name

Trimeric intracellular cation channel type B

Molecular Mass

32510 Da

Amino Acid Count

291

Genomic Location

chr9:105,694,540-105,776,628

Gene Map Locus
9q31.2

Description

The TMEM38B gene encodes the trimeric intracellular cation channel type B (TRIC-B) protein that functions in the maintenance of intracellular calcium release.  These channels are localized predominantly to the sarco/endoplasmatic reticulum, where they function as counter ion channels that synchronize with ryanodine receptor-mediated Ca2+ release. 

Mutations in this gene are associated with Osteogenesis imperfecta, type XIV (OI14).

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_018112.3:c.454+279_543-5092delinsAATTAAGGTATAPalestine; Saudi Arabi...NC_000009.12:g.105722000_105742981delinsAATTAAGGTATAPathogenicPathogenicOsteogenesis Imperfecta, Type XIVNG_032971.1:g.32476_53457delinsAATTAAGGTATA; NM_018112.3:c.454+279_543-5092delinsAATTAAGGTATA39494
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