Seroatlas · Human Serome Atlas

TMEM53

Transmembrane protein 53

Also known as: FLJ22353, NET4, TMM53_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q6P2H8
Gene: TMEM53
Ensembl: ENSG00000126106
Chromosome: 1
Canonical length: 277 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location: Golgi apparatus,Focal adhesion sites

OverviewNCBI Gene

Involved in negative regulation of BMP signaling pathway; negative regulation of ossification; and regulation of nucleocytoplasmic transport. Located in nuclear membrane. Implicated in craniotubular dysplasia Ikegawa type. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

277 residues, UniProt reviewed canonical sequence.

>Q6P2H8|TMEM53
     1  MASAELDYTI EIPDQPCWSQ KNSPSPGGKE AETRQPVVIL LGWGGCKDKN LAKYSAIYHK
    61  RGCIVIRYTA PWHMVFFSES LGIPSLRVLA QKLLELLFDY EIEKEPLLFH VFSNGGVMLY
   121  RYVLELLQTR RFCRLRVVGT IFDSAPGDSN LVGALRALAA ILERRAAMLR LLLLVAFALV
   181  VVLFHVLLAP ITALFHTHFY DRLQDAGSRW PELYLYSRAD EVVLARDIER MVEARLARRV
   241  LARSVDFVSS AHVSHLRDYP TYYTSLCVDF MRNCVRC

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TMEM53 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: Intracellular
Secreted: No
Transmembrane segments: 1
Mean surface accessibility (rSASA): 0.27
Highest tissue expression: 56 nTPM

Expression across tissuesHPA

Tissue

liver: 56 nTPM
testis: 33 nTPM
kidney: 17 nTPM
duodenum: 15 nTPM
choroid plexus: 15 nTPM
small intestine: 14 nTPM

Single-cell type

late spermatids: 1,700 nCPM
early spermatids: 204 nCPM
hepatocytes: 107 nCPM
enterocytes: 76 nCPM
late primary spermatocytes: 68 nCPM
colonocytes: 55 nCPM

Immune cell

plasmacytoid DC: 100 nTPM
intermediate monocyte: 23 nTPM
non-classical monocyte: 16 nTPM
naive B-cell: 15 nTPM
basophil: 14 nTPM
memory B-cell: 14 nTPM

Brain region

white matter: 34 nTPM
basal ganglia: 22 nTPM
thalamus: 22 nTPM
medulla oblongata: 21 nTPM
midbrain: 21 nTPM
pons: 21 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TMEM53.

Disease | AllUniProt

Conditions TMEM53 is implicated in, by any mechanism.

Craniotubular dysplasia, Ikegawa type (CTDI) MIM:619727

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 52 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

TMEM53-related craniotubular dysplasia
Craniotubular dysplasia, Ikegawa type

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): 1
gnomAD pLI: 0.02
gnomAD missense Z: 1.01
DepMap mean gene effect: -0.16
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

Alpha/Beta hydrolase fold
Protein of unknown function DUF829, TMEM53
Eukaryotic protein of unknown function (DUF829)

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads TMEM53 as an antibody target. Whether an autoantibody or antibody against TMEM53 could matter depends on whether native TMEM53 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

TMEM53 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 TMEM53 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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