Seroatlas · Human Serome Atlas

TMEM185A

Transmembrane protein 185A

Also known as: CXorf13, FAM11A, FRAXF, T185A_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q8NFB2
Gene: TMEM185A
Ensembl: ENSG00000269556
Chromosome: X
Canonical length: 350 aa
Protein class: Predicted membrane proteins
Subcellular location: Endoplasmic reticulum

OverviewNCBI Gene

The protein encoded by this gene is predicted to be a transmembrane protein. This gene is best known for localizing to the CpG island of the fragile site FRAXF. The 5' untranslated region of this gene contains a CGG trinucleotide repeat sequence that normally consists of 7-40 tandem CGG repeats but which can expand to greater than 300 repeats. Methylation of the CpG island leads to transcriptional silencing of this gene, but neither the silencing nor an expanded repeat region appear to manifest itself in a clear phenotypic manner. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been defined on the X chromosome. [provided by RefSeq, Aug 2013]

Canonical amino-acid sequenceUniProt

350 residues, UniProt reviewed canonical sequence.

>Q8NFB2|TMEM185A
     1  MNLRGLFQDF NPSKFLIYAC LLLFSVLLAL RLDGIIQWSY WAVFAPIWLW KLMVIVGASV
    61  GTGVWARNPQ YRAEGETCVE FKAMLIAVGI HLLLLMFEVL VCDRIERGSH FWLLVFMPLF
   121  FVSPVSVAAC VWGFRHDRSL ELEILCSVNI LQFIFIALRL DKIIHWPWLV VCVPLWILMS
   181  FLCLVVLYYI VWSVLFLRSM DVIAEQRRTH ITMALSWMTI VVPLLTFEIL LVHKLDGHNA
   241  FSCIPIFVPL WLSLITLMAT TFGQKGGNHW WFGIRKDFCQ FLLEIFPFLR EYGNISYDLH
   301  HEDNEETEET PVPEPPKIAP MFRKKARVVI TQSPGKYVLP PPKLNIEMPD

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TMEM185A 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: 7
Mean surface accessibility (rSASA): 0.37
Highest tissue expression: 29 nTPM

Expression across tissuesHPA

Tissue

ovary: 29 nTPM
heart muscle: 28 nTPM
placenta: 25 nTPM
choroid plexus: 19 nTPM
skin: 18 nTPM
epididymis: 16 nTPM

Single-cell type

platelets: 75 nCPM
choroid plexus epithelial cells: 64 nCPM
sertoli cells: 60 nCPM
granulosa cells: 51 nCPM
adrenal medulla cells: 43 nCPM
esophageal apical cells: 39 nCPM

Immune cell

NK-cell: 14 nTPM
eosinophil: 12 nTPM
memory CD8 T-cell: 9.7 nTPM
gdT-cell: 9.3 nTPM
T-reg: 9.3 nTPM
naive CD4 T-cell: 8.9 nTPM

Brain region

choroid plexus: 42 nTPM
cerebellum: 14 nTPM
hypothalamus: 14 nTPM
cerebral cortex: 14 nTPM
spinal cord: 14 nTPM
hippocampal formation: 13 nTPM

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): 1.07
gnomAD pLI: 0.02
gnomAD missense Z: 1.15
DepMap mean gene effect: -0.07
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of TMEM185A in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

MAP1B

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads TMEM185A as an antibody target. Whether an autoantibody or antibody against TMEM185A could matter depends on whether native TMEM185A is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

TMEM185A 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 TMEM185A as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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