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; AllianceGenome:HGNC:25535
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
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Genomic context

Location:: 9q31.2

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (105694541..105776629)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (117869221..117951308)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (108456822..108538910)

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 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?

Absence of TRIC-B from type XIV Osteogenesis Imperfecta osteoblasts alters cell adhesion and mitochondrial function - A multi-omics study.
Title: Absence of TRIC-B from type XIV Osteogenesis Imperfecta osteoblasts alters cell adhesion and mitochondrial function - A multi-omics study.
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.

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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 14 MedGen: C3554428 OMIM: 615066 GeneReviews: Not available	not available

EBI GWAS Catalog

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

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables potassium channel activity	ISS Inferred from Sequence or Structural Similarity more info
enables potassium channel activity	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in bone development	IEA Inferred from Electronic Annotation more info
involved_in bone mineralization	IEA Inferred from Electronic Annotation more info
involved_in cellular response to caffeine	IEA Inferred from Electronic Annotation more info
involved_in endoplasmic reticulum organization	IEA Inferred from Electronic Annotation more info
involved_in establishment of localization in cell	IEA Inferred from Electronic Annotation more info
involved_in extracellular matrix constituent secretion	IEA Inferred from Electronic Annotation more info
involved_in lung alveolus development	IEA Inferred from Electronic Annotation more info
involved_in lung epithelial cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in phospholipid biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in potassium ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	IEA Inferred from Electronic Annotation more info
involved_in regulation of release of sequestered calcium ion into cytosol	ISS Inferred from Sequence or Structural Similarity more info
involved_in release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	IEA Inferred from Electronic Annotation more info
involved_in secretion by lung epithelial cell involved in lung growth	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in endoplasmic reticulum	ISS Inferred from Sequence or Structural Similarity more info
located_in nuclear membrane	NAS Non-traceable Author Statement more info	PubMed
located_in nucleus	HDA more info	PubMed
located_in 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.

Genomic

NG_032971.1 RefSeqGene

Range

5017..87105

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_018112.3 → NP_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

Q5JR63, Q5SVN5, Q5SVN6, Q5VTE2, Q6IA97, Q9NVV0

Related

ENSP00000363824.3, ENST00000374692.8

Conserved Domains (1) summary

pfam05197
Location:39 → 221

TRIC; TRIC channel

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000009.12 Reference GRCh38.p14 Primary Assembly

Range

105694541..105776629

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011518832.4 → XP_011517134.1 trimeric intracellular cation channel type B isoform X3

Conserved Domains (1) summary

pfam05197
Location:39 → 130

TRIC; TRIC channel
XM_011518831.3 → XP_011517133.1 trimeric intracellular cation channel type B isoform X2

See identical proteins and their annotated locations for XP_011517133.1

Conserved Domains (1) summary

pfam05197
Location:39 → 181

TRIC; TRIC channel
XM_005252075.3 → XP_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:1 → 167

TRIC; TRIC channel

Alternate T2T-CHM13v2.0

Genomic

NC_060933.1 Alternate T2T-CHM13v2.0

Range

117869221..117951308

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054363215.1 → XP_054219190.1 trimeric intracellular cation channel type B isoform X3
XM_054363214.1 → XP_054219189.1 trimeric intracellular cation channel type B isoform X2