Seroatlas · Human Serome Atlas

TMEM230

Transmembrane protein 230

Also known as: C20orf30, HSPC274, TM230_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q96A57
Gene: TMEM230
Ensembl: ENSG00000089063
Chromosome: 20
Canonical length: 120 aa
Protein class: Disease related genes, Potential drug targets, Predicted membrane proteins, Transporters
Subcellular location: Endoplasmic reticulum

OverviewNCBI Gene

This gene encodes a multi-pass transmembrane protein that belongs to the TMEM134/TMEM230 protein family. The encoded protein localizes to secretory and recycling vesicle in the neuron and may be involved in synaptic vesicles trafficking and recycling. Mutations in this gene may be linked to familial Parkinson's disease. [provided by RefSeq, Mar 2017]

Canonical amino-acid sequenceUniProt

120 residues, UniProt reviewed canonical sequence.

>Q96A57|TMEM230
     1  MMPSRTNLAT GIPSSKVKYS RLSSTDDGYI DLQFKKTPPK IPYKAIALAT VLFLIGAFLI
    61  IIGSLLLSGY ISKGGADRAV PVLIIGILVF LPGFYHLRIA YYASKGYRGY SYDDIPDFDD

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TMEM230 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: 2
Mean surface accessibility (rSASA): 0.47
Highest tissue expression: 185 nTPM

Expression across tissuesHPA

Tissue

liver: 185 nTPM
tongue: 138 nTPM
kidney: 136 nTPM
spinal cord: 134 nTPM
adipose tissue: 132 nTPM
thyroid gland: 127 nTPM

Single-cell type

parietal cells: 523 nCPM
decidual stromal cells: 371 nCPM
gastric chief cells: 311 nCPM
oocytes: 281 nCPM
extravillous trophoblasts: 274 nCPM
hofbauer cells: 245 nCPM

Immune cell

total PBMC: 349 nTPM
intermediate monocyte: 187 nTPM
non-classical monocyte: 181 nTPM
classical monocyte: 176 nTPM
memory B-cell: 171 nTPM
MAIT T-cell: 167 nTPM

Brain region

choroid plexus: 138 nTPM
white matter: 129 nTPM
cerebellum: 113 nTPM
hypothalamus: 109 nTPM
medulla oblongata: 109 nTPM
pons: 106 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TMEM230.

Disease | AllUniProt

Conditions TMEM230 is implicated in, by any mechanism.

Parkinson disease (PARK) MIM:168600

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): 1.64
gnomAD pLI: 0
gnomAD missense Z: 0.36
DepMap mean gene effect: -0.27
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 10% 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

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of TMEM230 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

CANX

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads TMEM230 as an antibody target. Whether an autoantibody or antibody against TMEM230 could matter depends on whether native TMEM230 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

TMEM230 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 TMEM230 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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