TMEM38B
Trimeric intracellular cation channel type B
Also known as: bA219P18.1, C9orf87, D4Ertd89e, FLJ10493, TM38B_HUMAN, TRIC-B
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9NVV0
- Gene
- TMEM38B
- Ensembl
- ENSG00000095209
- Chromosome
- 9
- Canonical length
- 291 aa
- Protein class
- Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters
- Quaternary structure
- Homotrimer
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
291 residues, UniProt reviewed canonical sequence.
>Q9NVV0|TMEM38B
1 MDSPWDELAL AFSRTSMFPF FDIAHYLVSV MAVKRQPGAA ALAWKNPISS WFTAMLHCFG
61 GGILSCLLLA EPPLKFLANH TNILLASSIW YITFFCPHDL VSQGYSYLPV QLLASGMKEV
121 TRTWKIVGGV THANSYYKNG WIVMIAIGWA RGAGGTIITN FERLVKGDWK PEGDEWLKMS
181 YPAKVTLLGS VIFTFQHTQH LAISKHNLMF LYTIFIVATK ITMMTTQTST MTFAPFEDTL
241 SWMLFGWQQP FSSCEKKSEA KSPSNGVGSL ASKPVDVASD NVKKKHTKKN ELocalizationUniProt · AlphaFold · HPA
Whether an antibody against TMEM38B can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Other membrane
- Secreted
- No
- Transmembrane segments
- 7
- Mean surface accessibility (rSASA)
- 0.36
- Highest tissue expression
- 71 nTPM
Expression across tissuesHPA
Tissue
- skeletal muscle: 71 nTPM
- tongue: 58 nTPM
- heart muscle: 28 nTPM
- kidney: 27 nTPM
- testis: 26 nTPM
- thyroid gland: 26 nTPM
Single-cell type
- late spermatids: 835 nCPM
- myonuclei: 770 nCPM
- early spermatids: 322 nCPM
- late primary spermatocytes: 240 nCPM
- thymic myoid cells: 214 nCPM
- cardiomyocytes: 152 nCPM
Immune cell
- memory B-cell: 57 nTPM
- naive B-cell: 57 nTPM
- eosinophil: 54 nTPM
- plasmacytoid DC: 52 nTPM
- naive CD4 T-cell: 39 nTPM
- intermediate monocyte: 30 nTPM
Brain region
- white matter: 43 nTPM
- cerebellum: 37 nTPM
- pons: 36 nTPM
- hypothalamus: 35 nTPM
- choroid plexus: 33 nTPM
- medulla oblongata: 32 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about TMEM38B.
Disease | AllUniProt
Conditions TMEM38B is implicated in, by any mechanism.
- Osteogenesis imperfecta 14 (OI14) MIM:615066
Disease | GeneticClinVar
14 pathogenic / likely-pathogenic of 218 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Osteogenesis imperfecta type 14
- See cases
- Osteogenesis imperfecta
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.8
- gnomAD pLI
- 0.02
- gnomAD missense Z
- -0.05
- DepMap mean gene effect
- -0.03
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- bone development
- bone mineralization
- cellular response to caffeine
- endoplasmic reticulum organization
- establishment of localization in cell
- extracellular matrix constituent secretion
- lung alveolus development
- lung epithelial cell differentiation
- phospholipid biosynthetic process
- regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion
- regulation of release of sequestered calcium ion into cytosol
- release of sequestered calcium ion into cytosol by sarcoplasmic reticulum
- secretion by lung epithelial cell involved in lung growth
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads TMEM38B as an antibody target. Whether an autoantibody or antibody against TMEM38B could matter depends on whether native TMEM38B is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
TMEM38B is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label TMEM38B as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
Loading the interactive Seroatlas protein explorer...