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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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TMEM230
transmembrane protein 230
Chromosome 20 · 20p13-p12.3
NCBI Gene: 29058Ensembl: ENSG00000089063.16HGNC: HGNC:15876UniProt: A0A087WTT2
63PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
axonal transportsynaptic vesicletrans-Golgi networkrecycling endosomeParkinson diseaseFamilial prostate cancerprostate canceressential tremor
✦AI Summary

TMEM230 encodes a transmembrane protein involved in synaptic vesicle trafficking and recycling within the endomembrane system. 1 The protein localizes to secretory and recycling vesicles and functions in intracellular vesicle transport, including trafficking through the trans-Golgi network, early endosomes, and recycling endosomes. 2 Recent structural studies reveal TMEM230 operates as a subunit of ATP8 and ATP11 lipid flippases on early endosomes, 2 and may regulate motor protein-mediated trafficking of metalloproteins and cellular components critical for neural tissue homeostasis. 3 TMEM230 mutations cause autosomal dominant Parkinson's disease with typical Lewy body pathology and late-onset presentation. 4 1 Pathogenic variants including p.Y92C, p.R141L, and frameshift mutations have been identified, though mutation prevalence remains rare and replication studies have been largely negative. 5 4 Despite limited genetic prevalence, TMEM230 represents a putative novel Parkinson's disease gene, 6 and patients with TMEM230 mutations exhibit significantly earlier disease onset (median ~31.5 years) compared to non-carriers. 7 The functional link between TMEM230 dysfunction and neurodegeneration remains incompletely understood. Current evidence suggests involvement in vesicle trafficking, autophagy, and protein aggregation pathways relevant to α-synuclein pathology, 5 though mechanistic studies characterizing how mutations lead to dopaminergic neuronal loss require further investigation.

Sources cited
1
TMEM230 identified as a recently implicated Parkinson's disease gene
PMID: 35328025
2
TMEM230 listed as a putative novel Parkinson's disease-causing gene
PMID: 37366140
3
TMEM230 regulates endomembrane system, motor protein-mediated trafficking, and metalloproteins in neural tissue
PMID: 38960477
4
TMEM230 frameshift mutation identified; disease onset significantly earlier in genetic diagnosis carriers
PMID: 32613234
5
TMEM230 functions as subunit of ATP8 and ATP11 lipid flippases in early endosomes
PMID: 40437099
6
TMEM230 encodes transmembrane protein in secretory and recycling vesicles; identified as novel autosomal dominant PD-causing gene with Lewy pathology
PMID: 30175983
7
TMEM230 mutations identified as third Mendelian late-onset PD gene with typical Lewy-body pathology; roles in vesicle trafficking and endosome pathways
PMID: 28568905
8
TMEM230 mutations associated with late-onset PD with Lewy bodies; protein functions in vesicle trafficking, autophagy, and protein aggregation
PMID: 33212219
Disease Associationsⓘ21
Parkinson diseaseOpen Targets
0.29Weak
essential tremorOpen Targets
0.11Weak
Familial prostate cancerOpen Targets
0.11Weak
prostate cancerOpen Targets
0.11Weak
glioblastoma multiformeOpen Targets
0.09Suggestive
gliomaOpen Targets
0.09Suggestive
neoplasmOpen Targets
0.09Suggestive
diabetes mellitusOpen Targets
0.06Suggestive
food allergyOpen Targets
0.05Suggestive
rheumatoid arthritisOpen Targets
0.04Suggestive
epilepsyOpen Targets
0.04Suggestive
oligodendrogliomaOpen Targets
0.04Suggestive
astrocytomaOpen Targets
0.03Suggestive
glioblastomaOpen Targets
0.03Suggestive
polypOpen Targets
0.02Suggestive
Alzheimer diseaseOpen Targets
0.02Suggestive
cancerOpen Targets
0.02Suggestive
AutoimmunityOpen Targets
0.02Suggestive
achalasia-alacrima syndromeOpen Targets
0.02Suggestive
oligoastrocytomaOpen Targets
0.01Suggestive
Parkinson diseaseUniProt
Pathogenic Variants1
NM_001009925.2(TMEM230):c.233G>T (p.Arg78Leu)Pathogenic
not provided
★☆☆☆2023→ Residue 78
View on ClinVar ↗
Related Genes
DNAJC13Protein interaction73%CHCHD2Protein interaction71%LRP10Co-mentioned in literature30%KIFC2Shared pathway20%LIN7BShared pathway20%LIN7CShared pathway20%
Tissue Expression6 tissues
Heart
100%
Brain
97%
Liver
97%
Ovary
72%
Lung
65%
Bone Marrow
53%
Gene Interaction Network
Click a node to explore
TMEM230DNAJC13CHCHD2LRP10KIFC2LIN7BLIN7C
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q96A57
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.28LoF Tolerant
pLIⓘ
0.01Tolerant
Observed/Expected LoF0.71 [0.42–1.28]
RankingsWhere TMEM230 stands among ~20K protein-coding genes
  • #7,417of 20,598
    Most Researched63
  • #5,032of 5,498
    Most Pathogenic Variants1
  • #13,517of 17,882
    Most Constrained (LOEUF)1.28
Genes detectedTMEM230
Sources retrieved10 papers
Response time—
📄 Sources
10â–¼
1
Monogenic Parkinson's Disease: Genotype, Phenotype, Pathophysiology, and Genetic Testing.
PMID: 35328025
Genes (Basel) · 2022
1.00
2
Parkinson's disease - genetic cause.
PMID: 37366140
Curr Opin Neurol · 2023
0.90
3
Transmembrane protein TMEM230, regulator of metalloproteins and motor proteins in gliomas and gliosis.
PMID: 38960477
Adv Protein Chem Struct Biol · 2024
0.80
4
The role of genetics in Parkinson's disease: a large cohort study in Chinese mainland population.
PMID: 32613234
Brain · 2020
0.70
5
EndoMAP.v1 charts the structural landscape of human early endosome complexes.
PMID: 40437099
Nature · 2025
0.60