TMEM230

Summary

TMEM230 (transmembrane protein 230, HGNC:15876) is a protein-coding gene on chromosome 20p13-p12.3, encoding Transmembrane protein 230 (Q96A57). Involved in trafficking and recycling of synaptic vesicles. It is a selective cancer dependency (DepMap: 16.2% of cell lines).

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.

Source: NCBI Gene 29058 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Parkinson disease (Moderate, GenCC)
• Clinical variants (ClinVar): 95 total — 1 pathogenic
• Cancer dependency (DepMap): dependent in 16.2% of screened cell lines
• MANE Select transcript: NM_001009925

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15876
Approved symbol	TMEM230
Name	transmembrane protein 230
Location	20p13-p12.3
Locus type	gene with protein product
Status	Approved
Aliases	HSPC274
Ensembl gene	ENSG00000089063
Ensembl biotype	protein_coding
OMIM	617019
Entrez	29058

Gene structure

Transcript identifiers

Ensembl transcripts: 55 — 54 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000202834, ENST00000342308, ENST00000379276, ENST00000379277, ENST00000379279, ENST00000379283, ENST00000379286, ENST00000379299, ENST00000492419, ENST00000612323, ENST00000615008, ENST00000852454, ENST00000852455, ENST00000852456, ENST00000852457, ENST00000852458, ENST00000852459, ENST00000852460, ENST00000852461, ENST00000852462, ENST00000852463, ENST00000852464, ENST00000852465, ENST00000852466, ENST00000852467, ENST00000852468, ENST00000852469, ENST00000852470, ENST00000852471, ENST00000852472, ENST00000852473, ENST00000852474, ENST00000852475, ENST00000852476, ENST00000852477, ENST00000852478, ENST00000852479, ENST00000852480, ENST00000852481, ENST00000852482, ENST00000852483, ENST00000938042, ENST00000938043, ENST00000938044, ENST00000938045, ENST00000938046, ENST00000961499, ENST00000961500, ENST00000961501, ENST00000961502, ENST00000961503, ENST00000961504, ENST00000961505, ENST00000961506, ENST00000961507

RefSeq mRNA: 8 — MANE Select: NM_001009925 NM_001009924, NM_001009925, NM_001330984, NM_001330985, NM_001330986, NM_001330987, NM_001423980, NM_014145

CCDS: CCDS13086, CCDS82597

Canonical transcript exons

ENST00000202834 — 4 exons

Exon	Start	End
ENSE00001873383	5112961	5113076
ENSE00003566519	5109332	5109445
ENSE00003785844	5106188	5106310
ENSE00004027557	5099850	5100931

Expression profiles

Bgee: expression breadth ubiquitous, 145 present calls, max score 98.19.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 28.6068 / max 123.0832, expressed in 1811 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
186284	16.2168	1792
186281	6.8508	1496
186283	3.2964	1558
186282	0.9828	650
186279	0.5681	300
186280	0.4132	161
186285	0.2786	96

Top tissues by expression

145 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
gall bladder	UBERON:0002110	98.19	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	98.12	gold quality
right adrenal gland cortex	UBERON:0035827	98.03	gold quality
right adrenal gland	UBERON:0001233	97.98	gold quality
smooth muscle tissue	UBERON:0001135	97.90	gold quality
substantia nigra	UBERON:0002038	97.86	gold quality
left adrenal gland	UBERON:0001234	97.83	gold quality
left adrenal gland cortex	UBERON:0035825	97.81	gold quality
islet of Langerhans	UBERON:0000006	97.76	gold quality
hypothalamus	UBERON:0001898	97.69	gold quality
endometrium	UBERON:0001295	97.62	gold quality
rectum	UBERON:0001052	97.60	gold quality
adrenal gland	UBERON:0002369	97.50	gold quality
right coronary artery	UBERON:0001625	97.47	gold quality
omental fat pad	UBERON:0010414	97.47	gold quality
adrenal tissue	UBERON:0018303	97.43	gold quality
adenohypophysis	UBERON:0002196	97.40	gold quality
fallopian tube	UBERON:0003889	97.35	gold quality
adipose tissue	UBERON:0001013	97.33	gold quality
amygdala	UBERON:0001876	97.28	gold quality
pituitary gland	UBERON:0000007	97.27	gold quality
endocervix	UBERON:0000458	97.25	gold quality
left coronary artery	UBERON:0001626	97.25	gold quality
fundus of stomach	UBERON:0001160	97.20	gold quality
subcutaneous adipose tissue	UBERON:0002190	97.18	gold quality
Ammon’s horn	UBERON:0001954	97.17	gold quality
lymph node	UBERON:0000029	97.16	gold quality
temporal lobe	UBERON:0001871	97.16	gold quality
adult mammalian kidney	UBERON:0000082	97.14	gold quality
right atrium auricular region	UBERON:0006631	97.12	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-HCAD-5	yes	35.34
E-MTAB-7052	no	347.98
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

52 targeting TMEM230, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-5193	100.00	67.26	1744
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-1305	99.91	71.43	3443
HSA-MIR-7845-5P	99.88	64.88	771
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-6875-3P	99.82	70.26	2983
HSA-MIR-6764-5P	99.75	67.89	2304
HSA-MIR-187-5P	99.74	70.26	1404
HSA-MIR-6505-5P	99.73	69.25	1595
HSA-MIR-10394-5P	99.65	66.83	1852
HSA-MIR-1205	99.65	66.76	1826
HSA-MIR-3158-5P	99.65	67.51	1763
HSA-MIR-885-5P	99.59	68.59	879
HSA-MIR-1915-3P	99.58	66.79	1988
HSA-MIR-302A-5P	99.39	68.21	1913
HSA-MIR-3922-3P	99.25	64.96	1136
HSA-MIR-3176	99.25	64.35	954
HSA-MIR-6504-3P	99.17	69.31	2891
HSA-MIR-10399-5P	99.17	69.87	2610
HSA-MIR-4478	99.07	65.16	2320
HSA-MIR-6876-3P	98.97	65.69	765
HSA-MIR-626	98.89	66.21	762
HSA-MIR-3190-5P	98.87	64.89	1345
HSA-MIR-3145-3P	98.85	69.07	2031
HSA-MIR-3194-3P	98.83	66.22	1167
HSA-MIR-5187-5P	98.54	67.94	952

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 16.2% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 25)

• TMEM230 mutation is associated with Parkinson’s disease. (PMID:27270108)
• TMEM230 mutation may not be a common genetic factor for Chinese familial and sporadic PD patients. (PMID:27814995)
• Mutations in TMEM230 is associated to Parkinson’s disease (PD). (PMID:27818000)
• the TMEM230 stop codon mutation is rare in Parkinson’s disease and essential tremor patients from China, especially eastern China. (PMID:27869322)
• TMEM230 mutations are rare in Chinese patients with familial PD. (PMID:28038866)
• This study suggest that mutations in TMEM230 are not a common cause of Parkinson’s disease. (PMID:28090676)
• knockdown of another Parkinson’s disease (PD) gene, LRRK2, which phosphorylates Rab8a, similarly impairs retromer trafficking, secretory autophagy and Golgi-derived vesicle secretion, thus demonstrating converging roles of two PD genes TMEM230 and LRRK2 on Rab8a function, and suggesting that retromer and secretory dysfunction play an important role in PD pathogenesis. (PMID:28115417)
• These results suggest that TMEM230 mutations are not a frequent cause of PD with AD inheritance in the Italian population. (PMID:28318986)
• Study did not detect any potential functional exonic TMEM230 variants in sporadic multiple system atrophy in a Han Chinese cohort. (PMID:28320143)
• This study did not detect the identified familial PD-linked *184ProGlyext*5 mutation. (PMID:28370613)
• These results suggest that TMEM230 gene mutations may be rare in Chinese populations, and the variability of TMEM230 gene may not be a main factor for sporadic Parkinson’s disease patients in Chinese Han populations. (PMID:28446760)
• TMEM230 mutations are very rare in the autosomal dominant inherited Parkinson’s disease Han Chinese population. (PMID:28455698)
• No variants in the TMEM230 region were found associated with PD, age at onset, or cerebrospinal fluid alpha-synuclein levels (PMID:28457580)
• These findings identifying TMEM230 as a component of granulovacuolar degeneration and dystrophic neurites suggest TMEM230 dysregulation as a likely mechanism playing an important role in the pathogenesis of Alzheimer’s Disease. (PMID:28527219)
• The identification of TMEM230 mutations in Parkinson’s disease is potentially an important finding. (PMID:28568905)
• TMEM230 mutation might be a rare cause of Chinese familial and sporadic Parkinson’s-disease patients. (PMID:28709721)
• Mutation in TMEM230 gene is not associated with Parkinson’s disease. (PMID:28766910)
• The findings of this study suggested that TMEM230 mutations may not play a role in the development of familial Parkinson’s disease. (PMID:29305083)
• Findings suggest that the incidence of pathogenic variations in TMEM230 is very low and, therefore, TMEM230 do not play a major role in familial and sporadic Parkinson’s disease patients in southern Spanish population which can have important implication in clinical investigation. (PMID:29771939)
• No pathogenic TMEM230 variants were detect in patient with multiple system atrophy. (PMID:30056200)
• Analysis of the TMEM230 gene in familial Parkinson’s disease from south Italy. (PMID:31323517)
• Controversy of TMEM230 Associated with Parkinson’s Disease. (PMID:33212219)
• Loci on chromosome 20 interact with rs16969968 to influence cigarettes per day in European ancestry individuals. (PMID:38387257)
• Transmembrane Protein TMEM230, Regulator of Glial Cell Vascular Mimicry and Endothelial Cell Angiogenesis in High-Grade Heterogeneous Infiltrating Gliomas and Glioblastoma. (PMID:38612777)
• Transmembrane protein TMEM230, regulator of metalloproteins and motor proteins in gliomas and gliosis. (PMID:38960477)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	tmem230a	ENSDARG00000027687
danio_rerio	tmem230b	ENSDARG00000069674
mus_musculus	Tmem230	ENSMUSG00000027341
rattus_norvegicus		ENSRNOG00000075410
drosophila_melanogaster	CG2611	FBGN0032871

Protein

Protein identifiers

Transmembrane protein 230 — Q96A57 (reviewed: Q96A57)

All UniProt accessions (3): Q96A57, A0A087WTT2, Q5JWB9

UniProt curated annotations — full annotation on UniProt →

Function. Involved in trafficking and recycling of synaptic vesicles.

Subcellular location. Membrane. Golgi apparatus. trans-Golgi network. Cytoplasmic vesicle. Secretory vesicle. Synaptic vesicle. Early endosome. Recycling endosome. Late endosome. Autophagosome.

Disease relevance. Parkinson disease (PARK) [MIM:168600] A complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability. Additional features are characteristic postural abnormalities, dysautonomia, dystonic cramps, and dementia. The pathology of Parkinson disease involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. The disease is progressive and usually manifests after the age of 50 years, although early-onset cases (before 50 years) are known. The majority of the cases are sporadic suggesting a multifactorial etiology based on environmental and genetic factors. However, some patients present with a positive family history for the disease. Familial forms of the disease usually begin at earlier ages and are associated with atypical clinical features. The gene represented in this entry may be involved in disease pathogenesis. Genetic variants in TMEM230 and DNAJC13 have been found in the same large multigenerational family with adult-onset Parkinson disease. The pathological role of each gene and therefore the exact molecular basis of the disease is unclear.

Similarity. Belongs to the TMEM134/TMEM230 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q96A57-1	2	yes
Q96A57-2	1

RefSeq proteins (8): NP_001009924, NP_001009925, NP_001317913, NP_001317914, NP_001317915, NP_001317916, NP_001410909, NP_054864 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR008590	TMEM_230/134	Family
IPR044234	TMEM230	Family

Pfam: PF05915

UniProt features (13 total): sequence variant 4, modified residue 3, transmembrane region 2, sequence conflict 2, chain 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96A57-F1	81.46	0.38

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (3): 15, 23, 24

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 162 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_UP, GOBP_SYNAPTIC_VESICLE_LOCALIZATION, GOBP_AXO_DENDRITIC_TRANSPORT, GOBP_VESICLE_LOCALIZATION, MODULE_151, FERREIRA_EWINGS_SARCOMA_UNSTABLE_VS_STABLE_DN, GOCC_TRANS_GOLGI_NETWORK, GOCC_NEURON_PROJECTION, ZHANG_BREAST_CANCER_PROGENITORS_UP, HU_GENOTOXIN_ACTION_DIRECT_VS_INDIRECT_4HR, GOBP_ORGANELLE_LOCALIZATION, MODULE_114, GOCC_AUTOPHAGOSOME, GOCC_EXOCYTIC_VESICLE, GOCC_SECRETORY_VESICLE

GO Biological Process (2): synaptic vesicle transport (GO:0048489), axonal transport (GO:0098930)

GO Molecular Function (0):

GO Cellular Component (14): early endosome (GO:0005769), late endosome (GO:0005770), autophagosome (GO:0005776), endoplasmic reticulum (GO:0005783), trans-Golgi network (GO:0005802), synaptic vesicle (GO:0008021), endomembrane system (GO:0012505), membrane (GO:0016020), axon (GO:0030424), recycling endosome (GO:0055037), endosome (GO:0005768), Golgi apparatus (GO:0005794), cytoplasmic vesicle (GO:0031410), synapse (GO:0045202)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
endosome	3
cytoplasm	3
endomembrane system	3
vacuole	2
intracellular membrane-bounded organelle	2
cellular anatomical structure	2
transport	1
cellular process	1
establishment of vesicle localization	1
synaptic vesicle localization	1
axo-dendritic transport	1
axon	1
Golgi apparatus subcompartment	1
exocytic vesicle	1
presynapse	1
plasma membrane	1
neuron projection	1
cytoplasmic vesicle	1
intracellular vesicle	1
cell junction	1

Protein interactions and networks

STRING

896 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TMEM230	DNAJC13	O75165	731
TMEM230	CHCHD2	Q9Y6H1	695
TMEM230	VPS13C	Q709C8	693
TMEM230	VPS35	Q96QK1	630
TMEM230	RAB39B	Q96DA2	622
TMEM230	PTRHD1	Q6GMV3	609
TMEM230	FBXO7	Q9Y3I1	602
TMEM230	SYNJ1	O43426	599
TMEM230	DNAJC6	O75061	599
TMEM230	LRP10	Q7Z4F1	599
TMEM230	LRRK2	Q5S007	592
TMEM230	RIC3	Q7Z5B4	583
TMEM230	ATP13A2	Q9NQ11	582
TMEM230	GIGYF2	Q6Y7W6	581
TMEM230	PLA2G6	O60733	571

IntAct

33 interactions, top by confidence:

A	B	Type	Score
TMEM30B	KLRG2	psi-mi:“MI:0914”(association)	0.530
WLS	TMEM230	psi-mi:“MI:0915”(physical association)	0.490
NRAS	ESYT2	psi-mi:“MI:2364”(proximity)	0.480
TMEM230	MTNR1A	psi-mi:“MI:0915”(physical association)	0.370
MTNR1B	TMEM230	psi-mi:“MI:0915”(physical association)	0.370
TMEM230	HTR4	psi-mi:“MI:0915”(physical association)	0.370
PROM1	TMEM230	psi-mi:“MI:0915”(physical association)	0.370
WLS	TMEM230	psi-mi:“MI:0915”(physical association)	0.370
ERBB2	TMEM230	psi-mi:“MI:0915”(physical association)	0.370
ERBB3	TMEM230	psi-mi:“MI:0915”(physical association)	0.370
ERBB4	TMEM230	psi-mi:“MI:0915”(physical association)	0.370
CREB3	TMEM230	psi-mi:“MI:0915”(physical association)	0.370
CANX	HLA-A	psi-mi:“MI:0914”(association)	0.350
GPR107	JTB	psi-mi:“MI:0914”(association)	0.350
ATP11C	SCGB2A1	psi-mi:“MI:0914”(association)	0.350
MBLAC2	CD63	psi-mi:“MI:0914”(association)	0.350
ATP8B4	ELAVL4	psi-mi:“MI:0914”(association)	0.350
ATP11A	ATP11C	psi-mi:“MI:0914”(association)	0.350
SLC12A9	PGRMC1	psi-mi:“MI:0914”(association)	0.350
SLC35F5	STX10	psi-mi:“MI:0914”(association)	0.350
TCTN2	TMEM120B	psi-mi:“MI:2364”(proximity)	0.270
CANX	ESYT2	psi-mi:“MI:2364”(proximity)	0.270
TGOLN2	BLTP3B	psi-mi:“MI:2364”(proximity)	0.270
KRAS	ESYT2	psi-mi:“MI:2364”(proximity)	0.270
HRAS	ESYT2	psi-mi:“MI:2364”(proximity)	0.270
prmC	TMEM230	psi-mi:“MI:0915”(physical association)	0.000
TMEM230	ARL4D	psi-mi:“MI:0915”(physical association)	0.000
TMEM230		psi-mi:“MI:0915”(physical association)	0.000

BioGRID (77): TMEM230 (Proximity Label-MS), TMEM230 (Two-hybrid), TMEM230 (Affinity Capture-MS), TMEM230 (Affinity Capture-MS), TMEM230 (Two-hybrid), TMEM230 (Two-hybrid), TMEM230 (Two-hybrid), TMEM230 (Two-hybrid), TMEM230 (Proximity Label-MS), TMEM230 (Proximity Label-MS), TMEM230 (Proximity Label-MS), TMEM230 (Proximity Label-MS), TMEM230 (Proximity Label-MS), TMEM230 (Proximity Label-MS), TMEM230 (Proximity Label-MS)

ESM2 similar proteins: A2VDC7, A9CAZ8, P04116, P23289, P23294, P30408, P35803, P36963, P36965, P47789, P47790, P48230, P49111, P56557, P60201, P60202, P60203, P79826, Q0P442, Q0P467, Q13491, Q3SZL9, Q3T110, Q3ZC23, Q4R6L9, Q566G2, Q5BJP5, Q5E975, Q5R4C3, Q5R603, Q5R6E6, Q5R6Z4, Q5R8X3, Q5RE43, Q5ZLH4, Q64302, Q712P7, Q7Z0Q2, Q803X0, Q86VE9

Diamond homologs: Q5BJP5, Q5E975, Q5R8X3, Q5ZLH4, Q8CIB6, Q96A57

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 38 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
GRB2 events in ERBB2 signaling	5	126.9×	1e-08
SHC1 events in ERBB2 signaling	6	114.2×	7e-10
Signaling by ERBB2 TMD/JMD mutants	6	114.2×	7e-10
Signaling by ERBB2 KD Mutants	6	101.5×	1e-09
RAF/MAP kinase cascade	6	14.7×	2e-05
Neutrophil degranulation	5	4.6×	9e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

95 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	45
Likely benign	24
Benign	17

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
243014	NM_001009925.2(TMEM230):c.233G>T (p.Arg78Leu)	Pathogenic

SpliceAI

1053 predictions. Top by Δscore:

Variant	Effect	Δscore
20:5106186:ACC:A	donor_gain	1.0000
20:5106187:CCC:C	donor_gain	1.0000
20:5106311:C:CC	acceptor_gain	1.0000
20:5109157:C:A	donor_gain	1.0000
20:5109327:TTTA:T	donor_loss	1.0000
20:5109328:TTA:T	donor_loss	1.0000
20:5109329:TACCT:T	donor_loss	1.0000
20:5109330:A:C	donor_loss	1.0000
20:5109331:C:CG	donor_loss	1.0000
20:5109443:CAG:C	acceptor_gain	1.0000
20:5109444:AGCTA:A	acceptor_loss	1.0000
20:5109445:GC:G	acceptor_loss	1.0000
20:5100928:CCCC:C	acceptor_gain	0.9900
20:5100929:CCC:C	acceptor_gain	0.9900
20:5100929:CCCC:C	acceptor_gain	0.9900
20:5100930:CC:C	acceptor_gain	0.9900
20:5100930:CCC:C	acceptor_gain	0.9900
20:5100931:CC:C	acceptor_gain	0.9900
20:5100932:C:CC	acceptor_gain	0.9900
20:5100932:CTG:C	acceptor_loss	0.9900
20:5100933:T:C	acceptor_loss	0.9900
20:5106183:CTT:C	donor_loss	0.9900
20:5106184:TTACC:T	donor_loss	0.9900
20:5106185:T:TC	donor_loss	0.9900
20:5106186:AC:A	donor_gain	0.9900
20:5106187:CC:C	donor_gain	0.9900
20:5109441:CACAG:C	acceptor_gain	0.9900
20:5109442:ACAG:A	acceptor_gain	0.9900
20:5109443:CAGC:C	acceptor_gain	0.9900
20:5109444:AG:A	acceptor_gain	0.9900

AlphaMissense

768 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
20:5100855:G:T	A100D	1.000
20:5100876:C:T	G93E	1.000
20:5100879:G:T	P92H	1.000
20:5100897:C:A	G86V	1.000
20:5100897:C:T	G86D	1.000
20:5100898:C:G	G86R	1.000
20:5106222:C:T	G63D	1.000
20:5106223:C:G	G63R	1.000
20:5106243:C:A	G56V	1.000
20:5106243:C:T	G56D	1.000
20:5106244:C:A	G56C	1.000
20:5106244:C:G	G56R	1.000
20:5100800:A:C	F118L	0.999
20:5100800:A:T	F118L	0.999
20:5100802:A:G	F118L	0.999
20:5100807:G:T	P116Q	0.999
20:5100808:G:A	P116S	0.999
20:5100810:A:C	I115S	0.999
20:5100810:A:G	I115T	0.999
20:5100810:A:T	I115N	0.999
20:5100823:A:G	S111P	0.999
20:5100829:C:G	G109R	0.999
20:5100846:G:T	A103E	0.999
20:5100847:C:G	A103P	0.999
20:5100864:A:G	L97P	0.999
20:5100868:G:C	H96D	0.999
20:5100876:C:A	G93V	0.999
20:5100877:C:G	G93R	0.999
20:5100877:C:T	G93R	0.999
20:5100880:G:A	P92S	0.999

dbSNP variants (sampled 300 via entrez): RS1000122578 (20:5061499 T>C), RS1000164422 (20:5093002 A>G), RS1000251837 (20:5075683 C>T), RS1000387855 (20:5064798 A>G), RS1000390044 (20:5098769 C>T), RS1000427968 (20:5105289 A>T), RS1000473176 (20:5114959 T>C), RS1000486755 (20:5075403 G>A), RS1000539219 (20:5110787 A>C), RS1000552620 (20:5063709 G>T), RS1000574094 (20:5088340 CAATT>C), RS1000607863 (20:5111047 T>C), RS1000612059 (20:5070440 G>A,C), RS1000782201 (20:5075815 T>C), RS1000852057 (20:5082428 T>A)

Disease associations

OMIM: gene MIM:617019 | disease phenotypes: MIM:190300

GenCC curated gene-disease

Disease	Classification	Inheritance
Parkinson disease	Moderate	Semidominant

Mondo (3): prostate cancer (MONDO:0008315), essential tremor (MONDO:0003233), Parkinson disease (MONDO:0005180)

Orphanet (2): Familial prostate cancer (Orphanet:1331), NON RARE IN EUROPE: Hereditary essential tremor (Orphanet:862)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

MeSH disease descriptors (3)

Descriptor	Name	Tree numbers
D020329	Essential Tremor	C10.228.662.350
D010300	Parkinson Disease	C10.228.140.079.862.500; C10.228.662.600.400; C10.574.928.750
D011471	Prostatic Neoplasms	C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

39 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	increases expression, affects cotreatment	2
sodium arsenite	decreases expression, increases abundance	2
cobaltous chloride	decreases expression	2
aristolochic acid I	decreases expression	1
FR900359	decreases phosphorylation	1
bisphenol F	affects cotreatment, decreases expression	1
alpha-pinene	affects cotreatment, decreases expression, increases abundance	1
uranyl acetate	affects expression	1
beta-lapachone	increases expression	1
perfluorooctanoic acid	increases expression	1
bleomycetin	increases expression	1
nickel sulfate	decreases expression	1
coumarin	increases phosphorylation	1
methacrylaldehyde	affects cotreatment, decreases expression, increases abundance	1
di-n-butylphosphoric acid	affects expression	1
chloropicrin	increases expression	1
Bortezomib	decreases expression	1
Temozolomide	increases expression	1
Acetaminophen	increases expression	1
Acrolein	affects cotreatment, decreases expression, increases abundance	1
Air Pollutants	affects cotreatment, decreases expression, increases abundance	1
Arsenic	decreases expression, increases abundance	1
Atrazine	decreases expression	1
Benzo(a)pyrene	increases methylation	1
Caffeine	increases phosphorylation	1
Coumestrol	increases expression	1
Dexamethasone	affects cotreatment, increases expression, decreases expression	1
Indomethacin	decreases expression, affects cotreatment, increases expression	1
Lead	affects expression	1
Ozone	affects cotreatment, decreases expression, increases abundance	1

Cellosaurus cell lines

2 cell lines: 2 embryonic stem cell

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_E2VV	H9 AAVS1-TRE3G-NGN2 3xFLAG-EEA1 TMEM230-/-	Embryonic stem cell	Female
CVCL_E2VW	H9 AAVS1-TRE3G-NGN2 Flag-EEA1 TMEM230 X121W	Embryonic stem cell	Female

Clinical trials (associated diseases)

600 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00030979	PHASE4	COMPLETED	Donepezil to Treat Dementia in Parkinson’s Disease
NCT00043849	PHASE4	COMPLETED	Treatment of Agitation/Psychosis in Dementia/Parkinsonism (TAP/DAP)
NCT00095810	PHASE4	COMPLETED	Aripiprazole in Patients With Psychosis Associated With Parkinson’s Disease
NCT00125567	PHASE4	COMPLETED	Stalevo in Early Wearing-Off Patients
NCT00143026	PHASE4	COMPLETED	Study to Compare the Effect of Treatment With Carbidopa/Levodopa/Entacapone on the Quality of Life of Patients With Parkinson’s Disease. This Study is Not Recruiting in the United States
NCT00144300	PHASE4	COMPLETED	Ophthalmologic Safety Study of Pramipexole Immediate Release (IR) Versus Ropinirole in Early Parkinson’s Disease (PD) Patients
NCT00153972	PHASE4	COMPLETED	Dopamine Turnover Rate as Surrogate Parameter for Diagnosis of Early Parkinson’s Disease
NCT00174239	PHASE4	TERMINATED	Study Of Cabaser and Sinemet CR For The Treatment Of Nighttime Symptoms Associated With Parkinson’s Disease.
NCT00215904	PHASE4	COMPLETED	D-serine Adjuvant Treatment for Parkinson’s Disease
NCT00247247	PHASE4	COMPLETED	Comtess® Versus Cabaseril® as Add-on to Levodopa in the Treatment of Parkinsonian Patients Suffering From Wearing- Off.
NCT00272688	PHASE4	COMPLETED	Continuous Delivery of Levodopa in Patients With Advanced Idiopathic Parkinsons Disease - Cost-benefit
NCT00297778	PHASE4	COMPLETED	Pramipexole Versus Placebo in Parkinson’s Disease (PD) Patients With Depressive Symptoms
NCT00304161	PHASE4	COMPLETED	Effectiveness of Antidepressant Treatment for Depression in People With Parkinson’s Disease
NCT00307450	PHASE4	COMPLETED	Efficacy and Safety of Levetiracetam Versus Placebo on Levodopa-induced Dyskinesias in Advanced Parkinson’s Disease
NCT00321854	PHASE4	COMPLETED	Study of (Mirapex) Pramipexole for the Early Treatment of Parkinsons Disease (PD)
NCT00354133	PHASE4	UNKNOWN	Controlled Trial With Deep Brain Stimulation in Patients With Early Parkinson’s Disease
NCT00373087	PHASE4	COMPLETED	COMT Polymorphism and Entacapone Efficacy
NCT00391898	PHASE4	COMPLETED	Efficacy of Levodopa/Carbidopa/Entacapone vs Levodopa/Carbidopa in Parkinson’s Disease Patients With Early Wearing-off
NCT00399477	PHASE4	COMPLETED	A Non-Blinded Study Demonstrating the Effectiveness and Safety of Azilect Alone or in Combination Therapy in Parkinson’s Disease
NCT00402233	PHASE4	COMPLETED	A Randomized, Double-blind, Active (Pramipexole 0.5 mg Tid) and Placebo Controlled, Study of Pramipexole Given 0.5 mg and 0.75 mg Bid Over 12-week Treatment in Early Parkinson’s Disease (PD) Patients
NCT00437125	PHASE4	COMPLETED	Study on the Tolerability of Duloxetine in Depressed Patients With Parkinson’s Disease
NCT00443872	PHASE4	COMPLETED	Efficacy of Orally Disintegrating Selegiline in Parkinson’s Patients Experiencing Adverse Effects With Dopamine Agonists
NCT00455143	PHASE4	TERMINATED	Cognitive Protection - Dexmedetomidine and Cognitive Reserve
NCT00462007	PHASE4	COMPLETED	Study to Evaluate Initiation of Stalevo in Early Wearing-off
NCT00462254	PHASE4	TERMINATED	Ramelteon (ROZEREM) in the Treatment of Sleep Disturbances Associated With Parkinson’s Disease
NCT00477802	PHASE4	TERMINATED	Botulinum Toxin Type A (Botox) in the Management of Levodopa-Induced Peak-Dose Dyskinesias in Parkinson’s Disease
NCT00485069	PHASE4	COMPLETED	REQUIP (Ropinirole Hydrochloride) IR Long-Term Phase 4 Study
NCT00489255	PHASE4	COMPLETED	Safety/Efficacy of Tigan® to Control Nausea/Vomiting Experienced During Apokyn® Initiation and Treatment
NCT00526630	PHASE4	COMPLETED	Methylphenidate for the Treatment of Gait Impairment in Parkinson’s Disease
NCT00561678	PHASE4	COMPLETED	Perioperative Cognitive Function - Dexmedetomidine and Cognitive Reserve
NCT00571285	PHASE4	TERMINATED	Clinical Effects of Vitamin D Repletion in Patients With Parkinson’s Disease
NCT00584025	PHASE4	WITHDRAWN	Keppra IV for the Treatment of Motor Fluctuations in Parkinson’s Disease
NCT00584090	PHASE4	WITHDRAWN	Solifenacin Succinate (VESIcare) for the Treatment of Urinary Incontinence in Parkinson’s Disease
NCT00590122	PHASE4	COMPLETED	Parcopa Versus Carbidopa-levodopa in a Single Dose Cross-over Comparison Study
NCT00594464	PHASE4	COMPLETED	A Trial of Neupro® (Rotigotine Transdermal Patch) in Patients With Parkinson’s Disease Undergoing Surgery
NCT00601978	PHASE4	WITHDRAWN	Carbidopa/Levodopa Versus Carbidopa/Levodopa/Entacapone on Markers of Event Related Potentials (ERPs) in Patients With Idiopathic Parkinson’s Disease (PD) and End-of-dose Wearing Off
NCT00632762	PHASE4	COMPLETED	Long-Term Effects of Amantadine in Parkinsonian (AMANDYSK)
NCT00640159	PHASE4	COMPLETED	Selegiline to Zelapar Switch Study in Parkinson Disease Patients
NCT00642356	PHASE4	TERMINATED	Carbidopa/Levodopa/Entacapone Versus Immediate Release (IR) Carbidopa/Levodopa on Non-motor Symptoms in Patients With Idiopathic Parkinson’s Disease and Demonstrating Non-motor Symptoms of Wearing Off
NCT00646204	PHASE4	COMPLETED	Namenda (Memantine) for Non-motor Symptoms in Parkinson’s Disease