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.


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

TMEM17 蛋白结构


Transmemb_17: Predicted membrane protein (45 - 152)

  • 0
  • 100
  • 198 a.a.
蛋白主名 其他名称

transmembrane protein 17


疾病名称 别名
Joubert Syndrome 14


Joubert Syndrome, Type 14

Meckel Syndrome, Type 4

Meckel Syndrome 4


Meckel-Gruber Syndrome, Type 4

Meckel Syndrome Type 4

Meckel Syndrome, Type 2


Meckel Syndrome 2

Meckel-Gruber Syndrome, Type 2

Meckel Syndrome Type 2

Orofaciodigital Syndrome Vi


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



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



Gruber Syndrome

Meckel-Gruber Syndrome, Type 1


Dysencephalia Splachnocystica

Meckel Gruber Syndrome

Meckel Syndrome Type 1


Medullary Cystic Disease

Medullary Cystic Kidney



Kidney Disease, Cystic, Medullary

Joubert Syndrome 1

Joubert Syndrome


Cerebellooculorenal Syndrome 1


Joubert-Boltshauser Syndrome

Cerebelloparenchymal Disorder Iv



Joubert Syndrome And Related Disorders


Familial Aplasia Of The Vermis

Joubert Syndrome Related Disorders


Cerebellar Vermis Agenesis

Cerebelloparenchymal Disorder 4

Agenesis Of Cerebellar Vermis

Cerebello-Oculo-Renal Syndrome


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


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