TMEM230 (transmembrane protein 230)

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
29058
Gene name Gene Name - the full gene name approved by the HGNC.
Transmembrane protein 230
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TMEM230
Synonyms (NCBI Gene) Gene synonyms aliases
C20orf30, HSPC274, dJ1116H23.2.1
Chromosome Chromosome number
20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
20p13-p12.3
Summary Summary of gene provided in NCBI Entrez 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. Mut
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
miRTarBase ID miRNA Experiments Reference
MIRT028965 hsa-miR-26b-5p Microarray 19088304
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(24)
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
617019 15876 ENSG00000089063
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
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
Sequence length 120
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Parkinson disease Parkinson disease N/A N/A GenCC
Show/Hide Text Mining Associations (3)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Arthritis Rheumatoid Associate 40141059
Autoimmune Diseases Associate 40141059
Parkinson Disease Associate 27270108, 27818000, 28457580, 29771939