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

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: mouse all

Genomic context

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_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TMEM38B mutations could lead to a rare form of OI, with an autosomal recessive pattern of inheritance. We identified two novel mutations (c.455-7T>G in intron 3 and c.507G>A in exon 4) in TMEM38B in three Chinese children with OI. The two mutations created a new acceptor splice site (p.R151_G152insVL) and a novel downstream termination codon (p.W169X), respectively
Title: Two novel mutations in TMEM38B result in rare autosomal recessive osteogenesis imperfecta.
Absence of TMEM38B causes osteogenesis imperfecta by dysregulation of calcium flux kinetics in the endoplasmic reticulum, impacting multiple collagen-specific chaperones and modifying enzymes.
Title: Absence of the ER Cation Channel TMEM38B/TRIC-B Disrupts Intracellular Calcium Homeostasis and Dysregulates Collagen Synthesis in Recessive Osteogenesis Imperfecta.
A deletion mutation in TMEM38B associated with autosomal recessive osteogenesis imperfecta.
Title: A deletion mutation in TMEM38B associated with autosomal recessive osteogenesis imperfecta.
TMEM38B is a novel candidate gene for autosomal recessive Osteogenesis imperfecta (OI). Future studies are needed to explore fully the contribution of this gene to autosomal recessive Osteogenesis imperfecta (OI) in other populations.
Title: Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation.
Observational study of gene-disease association. (HuGE Navigator)
Title: Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D1S2514 (e-PCR)
- UniSTS:47156

D9S2107 (e-PCR)
- UniSTS:473793

Homology

Homologs of the TMEM38B gene: The TMEM38B gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 316 organisms have orthologs with human gene TMEM38B
Orthologs

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 more info	PubMed
sarcoplasmic reticulum membrane	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: trimeric intracellular cation channel type B

NCBI Reference Sequences (RefSeq)

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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.