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TMEM38B transmembrane protein 38B [ Homo sapiens (human) ]

Gene ID: 55151, updated on 3-May-2020

Summary

Official Symbol
TMEM38Bprovided by HGNC
Official Full Name
transmembrane protein 38Bprovided by HGNC
Primary source
HGNC:HGNC:25535
See related
Ensembl:ENSG00000095209 MIM:611236
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
OI14; TRICB; TRIC-B; C9orf87; D4Ertd89e; bA219P18.1
Summary
This gene encodes an intracellular monovalent cation channel that functions in maintenance of intracellular calcium release. Mutations in this gene may be associated with autosomal recessive osteogenesis. [provided by RefSeq, Oct 2012]
Expression
Broad expression in thyroid (RPKM 13.5), testis (RPKM 9.6) and 23 other tissues See more
Orthologs

Genomic context

See TMEM38B in Genome Data Viewer
Location:
9q31.2
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (105694541..105776629)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (108456806..108538892)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene fukutin Neighboring gene GATA motif-containing MPRA enhancer 228 Neighboring gene uncharacterized LOC107987107 Neighboring gene serine and arginine rich splicing factor 10 pseudogene Neighboring gene TAL bHLH transcription factor 2 Neighboring gene DEP domain containing 1 pseudogene 2 Neighboring gene solute carrier family 25 member 6 pseudogene 5 Neighboring gene uncharacterized LOC107987108

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
Osteogenesis imperfecta, type xiv
MedGen: C3554428 OMIM: 615066 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
A genome-wide association study identifies protein quantitative trait loci (pQTLs).
NHGRI GWA Catalog
Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity.
NHGRI GWA Catalog
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
NHGRI GWA Catalog
Meta-analysis of genome-wide association data identifies two loci influencing age at menarche.
NHGRI GWA Catalog
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
NHGRI GWA Catalog
Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 is identified to have a physical interaction with transmembrane protein 38B (TMEM38B) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed
Envelope transmembrane glycoprotein gp41 env HIV-1 gp41 is identified to have a physical interaction with transmembrane protein 38B (TMEM38B) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10493

Gene Ontology Provided by GOA

Function Evidence Code Pubs
potassium channel activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
bone development IEA
Inferred from Electronic Annotation
more info
 
bone mineralization IEA
Inferred from Electronic Annotation
more info
 
cellular response to caffeine IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum organization IEA
Inferred from Electronic Annotation
more info
 
extracellular matrix constituent secretion IEA
Inferred from Electronic Annotation
more info
 
lung alveolus development IEA
Inferred from Electronic Annotation
more info
 
lung epithelial cell differentiation IEA
Inferred from Electronic Annotation
more info
 
phospholipid biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
potassium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion IEA
Inferred from Electronic Annotation
more info
 
release of sequestered calcium ion into cytosol by sarcoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
secretion by lung epithelial cell involved in lung growth IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cell IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
nuclear membrane NAS
Non-traceable Author Statement
more info
PubMed 
nucleus HDA PubMed 
sarcoplasmic reticulum membrane NAS
Non-traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
trimeric intracellular cation channel type B

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_032971.1 RefSeqGene

    Range
    5017..87105
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_018112.3NP_060582.1  trimeric intracellular cation channel type B

    See identical proteins and their annotated locations for NP_060582.1

    Status: REVIEWED

    Source sequence(s)
    AK001355, AL592488, BC000049, BU728078, BX112234
    Consensus CDS
    CCDS6768.1
    UniProtKB/Swiss-Prot
    Q9NVV0
    Related
    ENSP00000363824.3, ENST00000374692.8
    Conserved Domains (1) summary
    pfam05197
    Location:39221
    TRIC; TRIC channel

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_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    105694541..105776629
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011518829.1XP_011517131.1  trimeric intracellular cation channel type B isoform X4

    See identical proteins and their annotated locations for XP_011517131.1

    Conserved Domains (1) summary
    pfam05197
    Location:39181
    TRIC; TRIC channel
  2. XM_005252077.3XP_005252134.1  trimeric intracellular cation channel type B isoform X3

    Conserved Domains (1) summary
    pfam05197
    Location:39220
    TRIC; TRIC channel
  3. XM_005252076.3XP_005252133.1  trimeric intracellular cation channel type B isoform X2

    Conserved Domains (1) summary
    pfam05197
    Location:39220
    TRIC; TRIC channel
  4. XM_011518831.2XP_011517133.1  trimeric intracellular cation channel type B isoform X4

    See identical proteins and their annotated locations for XP_011517133.1

    Conserved Domains (1) summary
    pfam05197
    Location:39181
    TRIC; TRIC channel
  5. XM_011518833.3XP_011517135.1  trimeric intracellular cation channel type B isoform X6

    See identical proteins and their annotated locations for XP_011517135.1

    Conserved Domains (1) summary
    pfam05197
    Location:1105
    TRIC; TRIC channel
  6. XM_011518832.3XP_011517134.1  trimeric intracellular cation channel type B isoform X5

    Conserved Domains (1) summary
    pfam05197
    Location:39130
    TRIC; TRIC channel
  7. XM_005252075.2XP_005252132.1  trimeric intracellular cation channel type B isoform X1

    See identical proteins and their annotated locations for XP_005252132.1

    UniProtKB/TrEMBL
    A0A0A0MRS4
    Related
    ENSP00000363820.1, ENST00000374688.5
    Conserved Domains (1) summary
    pfam05197
    Location:1167
    TRIC; TRIC channel

RNA

  1. XR_001746343.1 RNA Sequence

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