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] See more...

Aliases for TMEM38B Gene

Aliases for TMEM38B Gene

  • Transmembrane Protein 38B 2 3 4 5
  • TRIC-B 2 3 4
  • Trimeric Intracellular Cation Channel Type B 3 4
  • BA219P18.1 2 3
  • D4Ertd89e 2 3
  • C9orf87 3 4
  • TRICB 3 4
  • Chromosome 9 Open Reading Frame 87 2
  • FLJ10493 2
  • TMEM38B 5
  • OI14 3

External Ids for TMEM38B Gene

Previous HGNC Symbols for TMEM38B Gene

  • C9orf87

Previous GeneCards Identifiers for TMEM38B Gene

  • GC09P105537
  • GC09P107497
  • GC09P108456
  • GC09P078058

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 Brittle Bone Disorder. Gene Ontology (GO) annotations related to this gene include potassium channel activity and cation channel activity. An important paralog of this gene is TMEM38A.

UniProtKB/Swiss-Prot Summary 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.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TMEM38B Gene

Genomics for TMEM38B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TMEM38B Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J105693 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 274 +0.3 260 3.6 TBP MXD4 MNT SMAD5 IRF2 ZNF217 POLR2A BHLHE40 SIN3A ZNF395 TMEM38B lnc-ABCA1-11 lnc-TAL2-2
GH09J105656 Promoter 1.6 EPDnew Ensembl CraniofacialAtlas 257.6 -38.1 -38080 1.5 CTCF REST VEZF1 SMAD4 GABPB1 SAFB SKIL CBX1 SMARCA4 HDAC2 TMEM38B ENSG00000279609 lnc-ABCA1-7 lnc-TAL2-1 lnc-TAL2-2 ENSG00000228366 TAL2 FKTN
GH09J105700 Enhancer 0.7 Ensembl ENCODE 23.9 +6.1 6080 2.8 MNT CEBPB PRDM6 ZNF189 ZMYM3 KDM1A BCOR ZSCAN29 ZNF121 HDAC2 TMEM38B piR-61514-208 lnc-ABCA1-11 lnc-TAL2-2
GH09J105646 Enhancer 1.1 Ensembl ENCODE 11.1 -47.1 -47145 2 TBP IKZF1 HES1 MBD2 NONO ARNT REST VEZF1 NBN ZEB2 TMEM38B FKTN FSD1L lnc-ABCA1-7 TAL2 lnc-ABCA1-6
GH09J105678 Enhancer 0.8 Ensembl 14.2 -15.5 -15547 2 FEZF1 FOXA2 SMAD4 SAP130 RXRA ZBTB33 BCL6 JUND CREM FOXP1 TMEM38B HSALNG0073456 TAL2 lnc-TAL2-2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TMEM38B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TMEM38B

Top Transcription factor binding sites by QIAGEN in the TMEM38B gene promoter:
  • C/EBPalpha
  • FOXJ2
  • FOXJ2 (long isoform)
  • Oct-B1
  • oct-B2
  • oct-B3
  • POU2F1
  • POU2F1a
  • POU2F2
  • POU2F2 (Oct-2.1)

Genomic Locations for TMEM38B Gene

Latest Assembly
82,089 bases
Plus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
82,089 bases
Plus strand

(GRCh37/hg19 by Ensembl)
82,069 bases
Plus strand

Genomic View for TMEM38B Gene

Genes around TMEM38B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMEM38B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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; trimerization probably requires binding to phosphatidylinositol 4,5-bisphosphate (PIP2).

neXtProt entry for TMEM38B Gene

Post-translational modifications for TMEM38B Gene

  • Ubiquitination at Lys166
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TMEM38B Gene

Domains & Families for TMEM38B Gene

Gene Families for TMEM38B Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for TMEM38B Gene


Suggested Antigen Peptide Sequences for TMEM38B Gene

GenScript: Design optimal peptide antigens:
  • Transmembrane protein 38B (TM38B_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the TMEM38 family.
  • Belongs to the TMEM38 family.
genes like me logo Genes that share domains with TMEM38B: view

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.

Phenotypes From GWAS Catalog for TMEM38B Gene

Gene Ontology (GO) - Molecular Function for TMEM38B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005261 cation channel activity IEA --
GO:0005267 potassium channel activity TAS 19095005
GO:0005515 protein binding IPI 32296183
genes like me logo Genes that share ontologies with TMEM38B: view
genes like me logo Genes that share phenotypes with TMEM38B: view

Human Phenotype Ontology for TMEM38B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TMEM38B Gene

MGI Knock Outs for TMEM38B:

Animal Models for research

  • Taconic Biosciences Mouse Models for TMEM38B

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMEM38B

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TMEM38B gene
Compartment Confidence
nucleus 4
endoplasmic reticulum 4
plasma membrane 2
extracellular 1
mitochondrion 1
cytosol 1
lysosome 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for TMEM38B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus HDA 21630459
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TMEM38B: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TMEM38B Gene

Pathways & Interactions for TMEM38B Gene

PathCards logo

SuperPathways for TMEM38B Gene

No Data Available

Interacting Proteins for TMEM38B Gene

Gene Ontology (GO) - Biological Process for TMEM38B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001503 ossification IEA --
GO:0006811 ion transport IEA --
GO:0006813 potassium ion transport IEA --
GO:0007029 endoplasmic reticulum organization IEA --
GO:0008654 phospholipid biosynthetic process IEA --
genes like me logo Genes that share ontologies with TMEM38B: view

No data available for Pathways by source and SIGNOR curated interactions for TMEM38B Gene

Drugs & Compounds for TMEM38B Gene

(1) Drugs for TMEM38B Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Nutra 6876
genes like me logo Genes that share compounds with TMEM38B: view

Transcripts for TMEM38B Gene

mRNA/cDNA for TMEM38B Gene

7 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMEM38B

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

No ASD Table

Relevant External Links for TMEM38B Gene

GeneLoc Exon Structure for

Expression for TMEM38B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TMEM38B Gene

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

This gene is overexpressed in Muscle - Skeletal (x7.8).

Protein differential expression in normal tissues from HIPED for TMEM38B Gene

This gene is overexpressed in Testis (22.2), Islet of Langerhans (11.5), Fetal gut (8.4), and Kidney (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TMEM38B Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TMEM38B

SOURCE GeneReport for Unigene cluster for TMEM38B Gene:


Evidence on tissue expression from TISSUES for TMEM38B Gene

  • Kidney(4.3)
  • Nervous system(3.6)
  • Muscle(2.4)
  • Heart(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TMEM38B Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • cheek
  • chin
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • skull
  • tooth
  • chest wall
  • clavicle
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • biliary tract
  • kidney
  • liver
  • pelvis
  • ureter
  • uterus
  • vagina
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
  • blood
  • blood vessel
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with TMEM38B: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for TMEM38B Gene

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 30 31
  • 99.77 (n)
(Canis familiaris)
Mammalia TMEM38B 30 31
  • 88.93 (n)
(Bos Taurus)
Mammalia TMEM38B 30 31
  • 87.86 (n)
(Rattus norvegicus)
Mammalia Tmem38b 30
  • 80.69 (n)
(Mus musculus)
Mammalia Tmem38b 30 17 31
  • 80.57 (n)
(Ornithorhynchus anatinus)
Mammalia TMEM38B 31
  • 60 (a)
(Monodelphis domestica)
Mammalia TMEM38B 31
  • 52 (a)
(Gallus gallus)
Aves TMEM38B 30 31
  • 67.14 (n)
(Anolis carolinensis)
Reptilia TMEM38B 31
  • 57 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia tmem38b 30
  • 60.5 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.15857 30
(Danio rerio)
Actinopterygii tmem38b 30
  • 53.41 (n)
CABZ01079427.1 31
  • 39 (a)
Fruit Fly
(Drosophila melanogaster)
Insecta CG4239 31
  • 33 (a)
CG33061 31
  • 22 (a)
(Caenorhabditis elegans)
Secernentea Y57A10A.10 31
  • 28 (a)
Y57A10A.28 31
  • 28 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.8498 31
  • 27 (a)
Species where no ortholog for TMEM38B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Evolutionary constrained regions (ECRs) for TMEM38B: view image

Paralogs for TMEM38B Gene

Paralogs for TMEM38B Gene

(1) SIMAP similar genes for TMEM38B Gene using alignment to 3 proteins:

  • H7C3B3_HUMAN
  • H7C4C1_HUMAN Pseudogenes for TMEM38B Gene

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

Variants for TMEM38B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TMEM38B Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
931131 Uncertain Significance: Osteogenesis imperfecta, type xiv 105,773,851(+) CT/C
rs112613378 Likely Benign: not provided 105,721,719(+) G/A
NM_018112.3(TMEM38B):c.452G>A (p.Arg151Gln)
rs113133534 Benign: not provided 105,722,574(+) A/G
NM_018112.3(TMEM38B):c.495A>G (p.Val165=)
rs114107985 Benign: not specified; not provided 105,721,684(+) T/C
NM_018112.3(TMEM38B):c.417T>C (p.Asn139=)
rs114827061 Benign: not provided 105,705,679(+) C/T
NM_018112.3(TMEM38B):c.195C>T (p.Ser65=)

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TMEM38B Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
dgv12837n54 CNV loss 21841781
dgv12838n54 CNV loss 21841781
dgv12839n54 CNV gain+loss 21841781
dgv12840n54 CNV gain 21841781
dgv12841n54 CNV gain+loss 21841781
dgv12842n54 CNV gain 21841781
dgv12843n54 CNV gain 21841781
dgv1369e199 CNV deletion 23128226
dgv7698n100 CNV loss 25217958
esv2666375 CNV deletion 23128226
esv2670351 CNV deletion 23128226
esv2675392 CNV deletion 23128226
esv26979 CNV gain 19812545
esv2738883 CNV deletion 23290073
esv3545255 CNV deletion 23714750
esv3621361 CNV loss 21293372
esv3621363 CNV loss 21293372
esv3621364 CNV gain 21293372
esv3621365 CNV loss 21293372
esv3891705 CNV loss 25118596
esv3891707 CNV gain 25118596
nsv1115217 CNV deletion 24896259
nsv1117521 CNV tandem duplication 24896259
nsv508558 CNV deletion 20534489
nsv615116 CNV loss 21841781
nsv615117 CNV loss 21841781
nsv615127 CNV loss 21841781
nsv615138 CNV loss 21841781
nsv615139 CNV loss 21841781
nsv6653 CNV insertion 18451855
nsv825027 CNV gain 20364138
nsv968742 CNV duplication 23825009
nsv982335 CNV duplication 23825009

Variation tolerance for TMEM38B Gene

Residual Variation Intolerance Score: 58.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.84; 17.57% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TMEM38B Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMEM38B Gene

Disorders for TMEM38B Gene

MalaCards: The human disease database

(8) MalaCards diseases for TMEM38B Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

Disorder Aliases PubMed IDs
osteogenesis imperfecta, type xiv
  • oi14
brittle bone disorder
  • osteogenesis imperfecta
osteogenesis imperfecta, type iv
  • oi4
dentinogenesis imperfecta
  • capdepont teeth
bruck syndrome
  • osteogenesis imperfecta with congenital joint contractures
- elite association - COSMIC cancer census association via MalaCards


  • 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 variants affecting the gene represented in this entry.

Additional Disease Information for TMEM38B

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with TMEM38B: view

No data available for Genatlas for TMEM38B Gene

Publications for TMEM38B Gene

  1. A deletion mutation in TMEM38B associated with autosomal recessive osteogenesis imperfecta. (PMID: 23316006) Volodarsky M … Birk OS (Human mutation 2013) 2 3 4 74
  2. Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation. (PMID: 23054245) Shaheen R … Alkuraya FS (Journal of medical genetics 2012) 3 4 74
  3. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F … Nebel A (Mutation research 2010) 3 41
  4. Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. (PMID: 21102462) Elks CE … Murray A (Nature genetics 2010) 3 41
  5. Meta-analysis of genome-wide association data identifies two loci influencing age at menarche. (PMID: 19448620) Perry JR … Murabito JM (Nature genetics 2009) 3 41

Products for TMEM38B Gene

Sources for TMEM38B Gene