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TMEM230 - transmembrane protein 230 Gene

Also Known as HSPC274; C20orf30; dJ1116H23.2.1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 29058

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	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Biological Process GO Annotation	Evidence	References	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	References	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

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

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 Set	/	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