1. Gene
  2. TMEM17 - transmembrane protein 17 Gene

TMEM17 - transmembrane protein 17 Gene

中文名称:跨膜蛋白 17

种属: Homo sapiens

基因 ID: 200728 | 基因类型: protein coding

关于 TMEM17

Cytogenetic location: 2p15 Genomic coordinates (GRCh38): 2:62,453,531-62,506,195 (from NCBI)

This gene has 3 transcripts (splice variants), 202 orthologues and 2 paralogues. Broad expression in testis (RPKM 1.7), thyroid (RPKM 1.7) and 25 other tissues.

功能概要

参与非运动纤毛组装。预测位于睫状膜。预计成为 MKS 复合体的一部分。预计在睫状过渡区活跃。 [由基因组资源联盟提供,2022 年 4 月]

Involved in non-motile cilium assembly. Predicted to be located in ciliary membrane. Predicted to be part of MKS complex. Predicted to be active in ciliary transition zone. [provided by Alliance of Genome Resources, Apr 2022]

TMEM17 基因产物(1)

mRNA Protein Name
NM_198276.3 NP_938017.2 transmembrane protein 17
基因本体论
  • 分子功能
  • 生物过程
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
26638075 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in non-motile cilium assembly IMP
IMP: 通过突变表型推断
26982032 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

TMEM17 蛋白结构

Transmemb_17

Transmemb_17: Predicted membrane protein (45 - 152)

  • 0
  • 100
  • 198 a.a.
蛋白主名 其他名称

transmembrane protein 17

TMEM17 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
TMEM17 Q86X19 SS18L2 Homo sapiens Q9UHA2
Validated Y2H
32296183
种属内
TMEM17 Q86X19 YIF1A Homo sapiens O95070
BioID
26638075
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Joubert Syndrome 14

JBTS14

Joubert Syndrome, Type 14

Meckel Syndrome, Type 4

Meckel Syndrome 4

MKS4

Meckel-Gruber Syndrome, Type 4

Meckel Syndrome Type 4

Meckel Syndrome, Type 2

MKS2

Meckel Syndrome 2

Meckel-Gruber Syndrome, Type 2

Meckel Syndrome Type 2

Orofaciodigital Syndrome Vi

OFD6

Varadi-Papp Syndrome

Varadi Syndrome

Joubert Syndrome With Orofaciodigital Defect

Orofaciodigital Syndrome Type 6

Orofaciodigital Syndrome 6

Oral-Facial-Digital Syndrome, Type Vi

Ofds Vi

Polydactyly, Cleft Lip/Palate Or Lingual Lump, And Psychomotor Retardation

Polydactyly Cleft Lip Palate Psychomotor Retardation

Oral-Facial-Digital Syndrome Type 6

Polydactyly-Cleft Lip/Palate-Psychomotor Retardation Syndrome

Polydactyly - Cleft Lip/Palate - Psychomotor Retardation

Váradi Syndrome

Váradi-Papp Syndrome

Joubert Syndrome With Oral-Facial-Digital Syndrome

Oral-Facial-Digital Syndrome 6

Joubert-Orofaciodigital Syndrome

Orofaciodigital Syndrome, Type Vi

Coach Syndrome 1

Coach Syndrome

Joubert Syndrome With Congenital Hepatic Fibrosis

Gentile Syndrome

Joubert Syndrome With Hepatic Defect

Js-H

COACH1

Cerebellar Vermis Hypo/Aplasia, Oligophrenia, Congenital Ataxia, Ocular Coloboma, And Hepatic Fibrosis

Cerebellar Vermis Hypoplasia-Oligophrenia-Congenital Ataxia-Coloboma-Hepatic Fibrosis

Cerebellar Vermis Hypo/Aplasia, Oligophrenia, Ataxia Congenital, Coloboma, And Hepatic Fibrosis

Cerebellar Vermis Hypo/Aplasia Oligophrenia Congenital Ataxia Ocular Coloboma And Hepatic Fibrosis

Meckel Syndrome, Type 1

Meckel-Gruber Syndrome

Meckel Syndrome

Dysencephalia Splanchnocystica

Meckel Syndrome 1

MKS1

Mks

Gruber Syndrome

Meckel-Gruber Syndrome, Type 1

Mes

Dysencephalia Splachnocystica

Meckel Gruber Syndrome

Meckel Syndrome Type 1

Nephronophthisis

Medullary Cystic Disease

Medullary Cystic Kidney

Nph

Nphp

Kidney Disease, Cystic, Medullary

Joubert Syndrome 1

Joubert Syndrome

Jbts

Cerebellooculorenal Syndrome 1

JBTS1

Joubert-Boltshauser Syndrome

Cerebelloparenchymal Disorder Iv

Cpd4

Cors1

Joubert Syndrome And Related Disorders

Jsrd

Familial Aplasia Of The Vermis

Joubert Syndrome Related Disorders

Js

Cerebellar Vermis Agenesis

Cerebelloparenchymal Disorder 4

Agenesis Of Cerebellar Vermis

Cerebello-Oculo-Renal Syndrome

Cors

Joubert-Bolthauser Syndrome

Cpd Iv

Classic Joubert Syndrome

Joubert Syndrome Type A

Pure Joubert Syndrome

Cerebello-Oculo-Renal Syndrome 1

Joubert Syndrome-1

Joubert Syndrome, Type 1

Joubert'S Syndrome

Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal

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

直系同源

种属 基因名 来源 基因 ID
Bos taurus TMEM17 VGNC VGNC:35995
Canis familiaris TMEM17 VGNC VGNC:47496
Macaca mulatta TMEM17 VGNC VGNC:106236
Mus musculus TMEM17 MGD MGI:2144205
Rattus norvegicus TMEM17 RGD RGD:1310566
Others TMEM17 NCBI