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Aliases for TMEM38B Gene

Aliases for TMEM38B Gene

  • Transmembrane Protein 38B 2 3 4
  • TRICB 3 4 6
  • C9orf87 3 4
  • TRIC-B 3 4
  • OI14 3 6
  • Trimeric Intracellular Cation Channel Type B 3
  • Chromosome 9 Open Reading Frame 87 2
  • BA219P18.1 3
  • D4Ertd89e 3

External Ids for TMEM38B Gene

Previous Symbols for TMEM38B Gene

  • C9orf87

Summaries for TMEM38B Gene

Entrez Gene Summary for TMEM38B Gene

  • 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]

GeneCards Summary for TMEM38B Gene

TMEM38B (Transmembrane Protein 38B) is a Protein Coding gene. Diseases associated with TMEM38B include osteogenesis imperfecta, type xiv and osteogenesis imperfecta. GO annotations related to this gene include potassium channel activity. An important paralog of this gene is TMEM38A.

UniProtKB/Swiss-Prot for TMEM38B Gene

  • Monovalent cation channel required for maintenance of rapid intracellular calcium release. May act as a potassium counter-ion channel that functions in synchronization with calcium release from intracellular stores (By similarity).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMEM38B Gene

Genomics for TMEM38B Gene

Genomic Location for TMEM38B Gene

105,694,525 bp from pter
105,776,612 bp from pter
82,088 bases
Plus strand

Genomic View for TMEM38B Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TMEM38B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEM38B Gene

Proteins for TMEM38B Gene

  • Protein details for TMEM38B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Trimeric intracellular cation channel type B
    Protein Accession:
    Secondary Accessions:
    • Q5JR63
    • Q5SVN5
    • Q5SVN6
    • Q5VTE2
    • Q6IA97

    Protein attributes for TMEM38B Gene

    291 amino acids
    Molecular mass:
    32510 Da
    Quaternary structure:
    • Homotrimer.
    • Sequence=CAH71458.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI12390.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI12391.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI12392.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI39690.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAI39691.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI39692.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

neXtProt entry for TMEM38B Gene

Proteomics data for TMEM38B Gene at MOPED

Post-translational modifications for TMEM38B Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys166

Other Protein References for TMEM38B Gene

No data available for DME Specific Peptides for TMEM38B Gene

Domains for TMEM38B Gene

Protein Domains for TMEM38B Gene



  • The second transmembrane domain has been proposed to cross only half of the lipid bilayer and to loop back into the cytosol, so that the domains on each side of this domain are both found on the cytosolic face of the membrane. The cytosolic loop may form an ion-conducting pore (By similarity).:
    • Q9NVV0
  • Belongs to the TMEM38 family.:
    • Q9NVV0
genes like me logo Genes that share domains with TMEM38B: view

No data available for Gene Families for TMEM38B Gene

Function for TMEM38B Gene

Molecular function for TMEM38B Gene

UniProtKB/Swiss-Prot Function: Monovalent cation channel required for maintenance of rapid intracellular calcium release. May act as a potassium counter-ion channel that functions in synchronization with calcium release from intracellular stores (By similarity).

Gene Ontology (GO) - Molecular Function for TMEM38B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005261 cation channel activity --
GO:0005267 potassium channel activity TAS 19095005
genes like me logo Genes that share ontologies with TMEM38B: view
genes like me logo Genes that share phenotypes with TMEM38B: view

Animal Models for TMEM38B Gene

MGI Knock Outs for TMEM38B:

miRNA for TMEM38B Gene

miRTarBase miRNAs that target TMEM38B

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for TMEM38B Gene

Localization for TMEM38B Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM38B Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

Jensen Localization Image for TMEM38B Gene COMPARTMENTS Subcellular localization image for TMEM38B gene
Compartment Confidence
endoplasmic reticulum 5
nucleus 4
plasma membrane 2
cytosol 1
lysosome 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for TMEM38B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 21630459
GO:0016020 membrane --
GO:0016021 integral component of membrane IEA --
GO:0031965 nuclear membrane NAS 19095005
GO:0033017 sarcoplasmic reticulum membrane NAS 19095005
genes like me logo Genes that share ontologies with TMEM38B: view

Pathways for TMEM38B Gene

SuperPathways for TMEM38B Gene

No Data Available

Interacting Proteins for TMEM38B Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
Selected Interacting proteins: ENSP00000363824 Q9NVV0-TM38B_HUMAN for TMEM38B Gene via STRING I2D

Gene Ontology (GO) - Biological Process for TMEM38B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015672 monovalent inorganic cation transport --
GO:0071805 potassium ion transmembrane transport IEA --
GO:0098655 cation transmembrane transport --
genes like me logo Genes that share ontologies with TMEM38B: view

No data available for Pathways by source for TMEM38B Gene

Compounds for TMEM38B Gene

(1) HMDB Compounds for TMEM38B Gene

Compound Synonyms Cas Number PubMed IDs
  • Ca
genes like me logo Genes that share compounds with TMEM38B: view

Transcripts for TMEM38B Gene

Unigene Clusters for TMEM38B Gene

Transmembrane protein 38B:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM38B Gene

No ASD Table

Relevant External Links for TMEM38B Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for TMEM38B Gene

mRNA expression in normal human tissues for TMEM38B Gene

mRNA differential expression in normal tissues according to GTEx for TMEM38B Gene

This gene is overexpressed in Muscle - Skeletal (7.8).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for TMEM38B Gene

SOURCE GeneReport for Unigene cluster for TMEM38B Gene Hs.411925

genes like me logo Genes that share expressions with TMEM38B: view

Orthologs for TMEM38B Gene

This gene was present in the common ancestor of animals.

Orthologs for TMEM38B Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia TMEM38B 36
  • 99.77 (n)
  • 99.31 (a)
TMEM38B 37
  • 99 (a)
(Bos Taurus)
Mammalia TMEM38B 36
  • 87.86 (n)
  • 83.93 (a)
TMEM38B 37
  • 84 (a)
(Canis familiaris)
Mammalia TMEM38B 36
  • 88.93 (n)
  • 84.53 (a)
TMEM38B 37
  • 84 (a)
(Mus musculus)
Mammalia Tmem38b 36
  • 80.57 (n)
  • 72.76 (a)
Tmem38b 16
Tmem38b 37
  • 72 (a)
(Monodelphis domestica)
Mammalia TMEM38B 37
  • 52 (a)
(Ornithorhynchus anatinus)
Mammalia TMEM38B 37
  • 60 (a)
(Rattus norvegicus)
Mammalia Tmem38b 36
  • 80.69 (n)
  • 74.83 (a)
(Gallus gallus)
Aves TMEM38B 36
  • 67.14 (n)
  • 56.18 (a)
TMEM38B 37
  • 54 (a)
(Anolis carolinensis)
Reptilia TMEM38B 37
  • 57 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.15857 36
tropical clawed frog
(Silurana tropicalis)
Amphibia tmem38b 36
  • 60.5 (n)
  • 53.02 (a)
(Danio rerio)
Actinopterygii CABZ01079427.1 37
  • 39 (a)
tmem38b 36
  • 53.41 (n)
  • 47.08 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG33061 37
  • 22 (a)
CG4239 37
  • 33 (a)
(Caenorhabditis elegans)
Secernentea Y57A10A.10 37
  • 28 (a)
Y57A10A.28 37
  • 28 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8498 37
  • 27 (a)
Species with no ortholog for TMEM38B:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TMEM38B Gene

Gene Tree for TMEM38B (if available)
Gene Tree for TMEM38B (if available)

Paralogs for TMEM38B Gene

Paralogs for TMEM38B Gene

Selected SIMAP similar genes for TMEM38B Gene using alignment to 3 proteins: Pseudogenes for TMEM38B Gene

genes like me logo Genes that share paralogs with TMEM38B: view

Variants for TMEM38B Gene

Sequence variations from dbSNP and Humsavar for TMEM38B Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type MAF
rs1396753 -- 105,699,057(-) AGTGA(C/T)TAAGA intron-variant, upstream-variant-2KB
rs1396754 -- 105,772,409(-) GGGAA(C/T)AGAAA intron-variant
rs1567369 -- 105,772,665(-) aaaaA(A/T)TTTTT intron-variant
rs1979992 -- 105,773,049(-) TGACT(C/T)AAACT intron-variant
rs1979993 -- 105,772,224(-) GAAGG(A/G)TGAGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TMEM38B Gene

Variant ID Type Subtype PubMed ID
nsv893693 CNV Gain 21882294
nsv6653 CNV Insertion 18451855
esv2670351 CNV Deletion 23128226
nsv893694 CNV Gain 21882294
esv2675392 CNV Deletion 23128226
dgv1369e199 CNV Deletion 23128226
esv2666375 CNV Deletion 23128226
esv2738883 CNV Deletion 23290073
esv26979 CNV Gain 19812545
nsv508558 CNV Loss 20534489
nsv825027 CNV Gain 20364138

Relevant External Links for TMEM38B Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)
Locus Specific Mutation Databases (LSDB)

Disorders for TMEM38B Gene

(1) OMIM Diseases for TMEM38B Gene (611236)


  • Osteogenesis imperfecta 14 (OI14) [MIM:615066]: An autosomal recessive form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI14 is characterized by variable degrees of severity of multiple fractures and osteopenia, with normal teeth, sclerae, and hearing. Fractures first occur prenatally or by age 6 years. {ECO:0000269 PubMed:23054245, ECO:0000269 PubMed:23316006}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for TMEM38B Gene

Relevant External Links for TMEM38B

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with TMEM38B: view

Publications for TMEM38B Gene

  1. A deletion mutation in TMEM38B associated with autosomal recessive osteogenesis imperfecta. (PMID: 23316006) Volodarsky M. … Birk O.S. (Hum. Mutat. 2013) 2 3 4
  2. Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation. (PMID: 23054245) Shaheen R. … Alkuraya F.S. (J. Med. Genet. 2012) 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. TRIC channels are essential for Ca2+ handling in intracellular stores. (PMID: 17611541) Yazawa M. … Takeshima H. (Nature 2007) 2 3
  5. A genome-wide association study identifies protein quantitative trait loci (pQTLs). (PMID: 18464913) Melzer D. … Ferrucci L. (PLoS Genet. 2008) 3 49

Products for TMEM38B Gene

Sources for TMEM38B Gene

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