TMEM230 (transmembrane protein 230)

Gene

• Entrez ID: 29058
• Gene name: Transmembrane protein 230
• Gene symbol: TMEM230
• Synonyms (NCBI Gene): C20orf30, HSPC274, dJ1116H23.2.1
• Chromosome: 20
• Chromosome location: 20p13-p12.3
• Summary: 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. Mut

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT028965	hsa-miR-26b-5p	Microarray	19088304

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005768	Component	Endosome	IEA
GO:0005769	Component	Early endosome	IDA	27270108
GO:0005769	Component	Early endosome	IEA
GO:0005770	Component	Late endosome	IDA	27270108
GO:0005770	Component	Late endosome	IEA
GO:0005776	Component	Autophagosome	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005802	Component	Trans-Golgi network	IDA	27270108
GO:0008021	Component	Synaptic vesicle	IBA
GO:0008021	Component	Synaptic vesicle	IDA	27270108
GO:0008021	Component	Synaptic vesicle	IEA
GO:0012505	Component	Endomembrane system	IBA
GO:0016020	Component	Membrane	IEA
GO:0030424	Component	Axon	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0045202	Component	Synapse	IEA
GO:0048489	Process	Synaptic vesicle transport	IBA
GO:0048489	Process	Synaptic vesicle transport	IMP	27270108
GO:0055037	Component	Recycling endosome	IDA	27270108
GO:0055037	Component	Recycling endosome	IEA
GO:0098930	Process	Axonal transport	IDA	27270108
GO:0098930	Process	Axonal transport	IMP	27270108

Other IDs

• MIM: 617019
• HGNC: 15876
• e!Ensembl: ENSG00000089063

Protein

• UniProt ID: Q96A57
• Protein name: Transmembrane protein 230
• Protein function: Involved in trafficking and recycling of synaptic vesicles.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF05915	DUF872	2 → 118	Eukaryotic protein of unknown function (DUF872)	Family

• Sequence:

  MMPSRTNLATGIPSSKVKYSRLSSTDDGYIDLQFKKTPPKIPYKAIALATVLFLIGAFLI
  IIGSLLLSGYISKGGADRAVPVLIIGILVFLPGFYHLRIAYYASKGYRGYSYDDIPDFDD
  

• Sequence length: 120

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
PARKINSON DISEASE	—	CTD, Disgenet, GenCC CTD, Disgenet, GenCC CTD, Disgenet, GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE, LATE-ONSET	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TMEM230-related disorder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	40141059	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	40141059	Associate	★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	BEFREE	28527219		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	28527219		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	27270108, 27814995, 27818000, 28115417, 28446760, 28457580, 28527219, 28568905, 28709721, 28766910, 29305083, 29771939, 30175983		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	CTD_human_DG	27270108		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	Pubtator	27270108, 27818000, 28457580, 29771939	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	UNIPROT_DG	27270108		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	BEFREE	28568905		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Senile Plaques	Senile Plaques	BEFREE	28527219		★☆☆☆☆ Found in Text Mining only
Young onset Parkinson disease	Parkinson disease	BEFREE	28709721		★☆☆☆☆ Found in Text Mining only