TMEM230 - transmembrane protein 230 Gene

中文名称：跨膜蛋白 230

种属: Homo sapiens

同用名: HSPC274; C20orf30; dJ1116H23.2.1

基因 ID: 29058 | 基因类型: protein coding

关于 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.

功能概要

该基因编码属于 TMEM134/TMEM230 蛋白家族的多次跨膜蛋白。编码的蛋白质定位于神经元中的分泌和回收小泡，并可能参与突触小泡的运输和回收。该基因的突变可能与家族性帕金森病有关。[RefSeq 提供，2017 年 3 月]

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 基因产物(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

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables protein binding	IPI IPI: 通过物理相互作用推断	32296183	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in axonal transport	IDA IDA: 通过直接分析推断	27270108	GOA
involved in axonal transport	IMP IMP: 通过突变表型推断	27270108	GOA
involved in synaptic vesicle transport	IMP IMP: 通过突变表型推断	27270108	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in early endosome	IDA IDA: 通过直接分析推断	27270108	GOA
located in late endosome	IDA IDA: 通过直接分析推断	27270108	GOA
located in recycling endosome	IDA IDA: 通过直接分析推断	27270108	GOA
located in synaptic vesicle	IDA IDA: 通过直接分析推断	27270108	GOA
located in trans-Golgi network	IDA IDA: 通过直接分析推断	27270108	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

TMEM230 蛋白结构

DUF872

0
100
120 a.a.

蛋白主名

其他名称

transmembrane protein 230

UPF0414 transmembrane protein C20orf30

关联疾病

疾病名称

别名

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]

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS14702	TMEM230 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 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

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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

TMEM230 - transmembrane protein 230 Gene

关于 TMEM230

功能概要

TMEM230 基因产物(8)

TMEM230 蛋白结构

关联疾病

直系同源

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TMEM230 - transmembrane protein 230 Gene

关于 TMEM230

功能概要

TMEM230 基因产物(8)

TMEM230 蛋白结构

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z