TMEM230
entrez
29058
canonical
uniprot
Q96A57
canonical
ensembl
ENSG00000089063
resolver
ensp
ENSP00000202834
resolver
ensp
ENSP00000341364
resolver
ensp
ENSP00000368579
resolver
ensp
ENSP00000368581
resolver
ensp
ENSP00000368585
resolver
ensp
ENSP00000368588
resolver
ensp
ENSP00000368601
resolver
ensp
ENSP00000478112
resolver
ensp
ENSP00000478641
resolver
enst
ENST00000612323
resolver
enst
ENST00000615008
resolver
genesymbol
TMEM230
resolver
genesymbol_syn
C20orf30
resolver
hgnc
HGNC:15876
resolver
uniprot
A0A087WTT2
resolver
uniprot
B2RDM8
resolver
uniprot
D3DVZ9
resolver
uniprot
Q0VGC8
resolver
uniprot
Q5TDS5
resolver
uniprot
Q96ES2
resolver
uniprot
Q9P0A7
resolver
uniprot_entry
A0A087WTT2_HUMAN
resolver
uniprot_entry
TM230_HUMAN
resolver
uniprot_sec
B2RDM8
resolver
uniprot_sec
D3DVZ9
resolver
uniprot_sec
Q0VGC8
resolver
uniprot_sec
Q5TDS5
resolver
uniprot_sec
Q96ES2
resolver
uniprot_sec
Q9P0A7
resolver
amino_acid_sequence
MMPSRTNLATGIPSSKVKYSRLSSTDDGYIDLQFKKTPPKIPYKAIALATVLFLIGAFLIIIGSLLLSGYISKGGADRAVPVLIIGILVFLPGFYHLRIAYYASKGYRGYSYDDIPDFDD
uniprot
proteins
disease_involvement
DISEASE: 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. {ECO:0000269|PubMed:27270108}. Note=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. {ECO:0000305|PubMed:27270108}.
uniprot
proteins
function
FUNCTION: Involved in trafficking and recycling of synaptic vesicles. {ECO:0000269|PubMed:27270108}.
uniprot
proteins
mass_dalton
13188
uniprot
proteins
protein_family
TMEM134/TMEM230 family
uniprot
proteins
pubmed
11780052
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
27270108
uniprot
proteins
sequence_length
120
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}. Golgi apparatus, trans-Golgi network {ECO:0000269|PubMed:27270108}. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle {ECO:0000269|PubMed:27270108}. Early endosome {ECO:0000269|PubMed:27270108}. Recycling endosome {ECO:0000269|PubMed:27270108}. Late endosome {ECO:0000269|PubMed:27270108}. Cytoplasmic vesicle, autophagosome {ECO:0000269|PubMed:27270108}.
uniprot
proteins
transmembrane_region
TRANSMEM 46..66; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 79..99; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins