Seroatlas · Human Serome Atlas

TMEM47

Transmembrane protein 47

Also known as: BCMP1, DKFZp564E153, DKFZP761J17121, TM4SF10, TMM47_HUMAN, VAB-9

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9BQJ4
Gene: TMEM47
Ensembl: ENSG00000147027
Chromosome: X
Canonical length: 181 aa
Protein class: Predicted membrane proteins, Transporters
Subcellular location: Nuclear membrane

OverviewNCBI Gene

This gene encodes a member of the PMP22/EMP/claudin protein family. The encoded protein is localized to the ER and the plasma membrane. In dogs, transcripts of this gene exist at high levels in the brain. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

181 residues, UniProt reviewed canonical sequence.

>Q9BQJ4|TMEM47
     1  MASAGSGMEE VRVSVLTPLK LVGLVCIFLA LCLDLGAVLS PAWVTADHQY YLSLWESCRK
    61  PASLDIWHCE STLSSDWQIA TLALLLGGAA IILIAFLVGL ISICVGSRRR FYRPVAVMLF
   121  AAVVLQVCSL VLYPIKFIET VSLKIYHEFN WGYGLAWGAT IFSFGGAILY CLNPKNYEDY
   181  Y

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TMEM47 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: Cell surface
Secreted: No
Transmembrane segments: 4
Mean surface accessibility (rSASA): 0.31
Highest tissue expression: 105 nTPM

Expression across tissuesHPA

Tissue

blood vessel: 105 nTPM
smooth muscle: 48 nTPM
cervix: 44 nTPM
seminal vesicle: 43 nTPM
endometrium: 43 nTPM
adipose tissue: 38 nTPM

Single-cell type

ependymal cells: 226 nCPM
pituicytes/fscs: 177 nCPM
müller glia: 142 nCPM
smooth muscle cells: 131 nCPM
vascular smooth muscle cells: 123 nCPM
astrocytes: 92 nCPM

Immune cell

basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM
MAIT T-cell: 0 nTPM

Brain region

choroid plexus: 72 nTPM
hypothalamus: 66 nTPM
midbrain: 66 nTPM
spinal cord: 64 nTPM
basal ganglia: 64 nTPM
medulla oblongata: 63 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TMEM47.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 24 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

6 conditions

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): 0.57
gnomAD pLI: 0.8
gnomAD missense Z: 1.01
DepMap mean gene effect: 0.01
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

cell-cell adhesion

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of TMEM47 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads TMEM47 as an antibody target. Whether an autoantibody or antibody against TMEM47 could matter depends on whether native TMEM47 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

TMEM47 is annotated at the cell surface, where native TMEM47 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label TMEM47 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Loading the interactive Seroatlas protein explorer...