2. Gene
  3. TMEM230 - transmembrane protein 230 Gene

TMEM230 - transmembrane protein 230 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as HSPC274; C20orf30; dJ1116H23.2.1

Gene ID: 29058 | Gene type: protein coding

About TMEM230

Cytogenetic location: 20p13-p12.3 Genomic coordinates (GRCh38): 20:5,059,116-5,113,076 (from NCBI)

This gene has 11 transcripts (splice variants) and 300 orthologues. Ubiquitous expression in fat (RPKM 47.0), thyroid (RPKM 44.5) and 25 other tissues.

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. Mutations in this gene may be linked to familial Parkinson's disease. [provided by RefSeq, Mar 2017]

TMEM230 Products(8)

mRNA Protein Name
NM_001009923.2 NP_001009923.1 transmembrane protein 230 isoform 1
NM_001009924.2 NP_001009924.1 transmembrane protein 230 isoform 2
NM_001009925.2 NP_001009925.1 transmembrane protein 230 isoform 2
NM_001330984.2 NP_001317913.1 transmembrane protein 230 isoform 2
NM_001330985.2 NP_001317914.1 transmembrane protein 230 isoform 2
NM_001330986.2 NP_001317915.1 transmembrane protein 230 isoform 2
NM_001330987.2 NP_001317916.1 transmembrane protein 230 isoform 3
NM_014145.5 NP_054864.3 transmembrane protein 230 isoform 2
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
Biological Process GO Annotation Evidence Reference Source
involved in axonal transport IDA
IDA: Inferred from direct assay
27270108 GOA
involved in axonal transport IMP
IMP: Inferred from mutant phenotype
27270108 GOA
involved in synaptic vesicle transport IMP
IMP: Inferred from mutant phenotype
27270108 GOA
Cellular Component GO Annotation Evidence Reference Source
located in early endosome IDA
IDA: Inferred from direct assay
27270108 GOA
located in late endosome IDA
IDA: Inferred from direct assay
27270108 GOA
located in recycling endosome IDA
IDA: Inferred from direct assay
27270108 GOA
located in synaptic vesicle IDA
IDA: Inferred from direct assay
27270108 GOA
located in trans-Golgi network IDA
IDA: Inferred from direct assay
27270108 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TMEM230 Protein Structure

DUF872

DUF872: Eukaryotic protein of unknown function (DUF872) (19 - 118)

  • 0
  • 100
  • 120 a.a.
Protein Preferred Names Protein Names

transmembrane protein 230

UPF0414 transmembrane protein C20orf30

Related Diseases

Diseases Alias
Parkinson Disease 21

PARK21

Parkinson'S Disease 21

Parkinson Disease, Type 21
Tremor, Hereditary Essential, 3

ETM3

Essential Tremor 3

Essential Tremor, Hereditary, 3

Hereditary Essential Tremor 3
Essential Tremor

Benign Essential Tremor

Familial Tremor

Hereditary Essential Tremor

Essential Hereditary Tremor

Shaky Hand Syndrome

Benign Essential Tremor Syndrome

Tremor Hereditary Essential

Essential Tremor, Susceptibility To

Tremor, Hereditary Essential
Parkinson Disease, Late-Onset

Parkinson Disease

Parkinson'S Disease

PD

PARK

Parkinson Disease, Susceptibility To

Late Onset Parkinson'S Disease

Late Onset Parkinson Disease

Paralysis Agitans

Primary Parkinsonism

Idiopathic Parkinson Disease

Parkinson'S

Parkinson Disease, Late-Onset, Susceptibility To

Parkinson Disease, Age Of Onset, Modifier

Lewy Body Parkinson Disease

Idiopathic Parkinson'S Disease

Pd - [Parkinson Disease]

Parkinson Disease Nos

Parkinson, Nos

Primary Parkinson Disease
Early-Onset Parkinson'S Disease

Early-Onset Parkinson Disease
Parkinson Disease 15, Autosomal Recessive Early-Onset

Parkinsonian-Pyramidal Syndrome

Pallidopyramidal Syndrome

Parkinson Disease 15, Autosomal Recessive

PARK15

Pkps

Pallido-Pyramidal Syndrome

Parkinson'S Disease 15

Autosomal Recessive Early-Onset Parkinson Disease 15

Autosomal Recessive Early-Onset Parkinson'S Disease 15

Pallido-Pyramidal Disease

Parkinson Disease 15

Parkinson Disease 15 Autosomal Recessive

Pps

Parkinson Disease, Type 15
Dementia, Lewy Body

Lewy Body Dementia

Lewy Body Disease

Diffuse Lewy Body Disease

Dementia With Lewy Bodies

DLB

Autosomal Dominant Diffuse Lewy Body Disease

Cortical Lewy Body Disease

Dementia, Lewy Body, Susceptibility To

Lewy Body Dementia, Susceptibility To

Senile Dementia Of The Lewy Body Type

Dementia Of The Lewy Body Type

Lbd

Diffuse Lewy Body Disease With Gaze Palsy

Dysphasic Dementia Hereditary

Lewy Body Type Senile Dementia

Lewy Body Variant Of Alzheimer Disease

Lewy Bodies

Lewy Body

Dlbd - [Diffuse Lewy Body Disease]

Clbd - [Cortical Lewy Body Disease]
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS14702 TMEM230 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta TMEM230 VGNC VGNC:98459
Canis familiaris TMEM230 VGNC VGNC:47541
Rattus norvegicus TMEM230 RGD RGD:1307399
Mus musculus TMEM230 MGD MGI:1917862