TMEM17 - transmembrane protein 17 Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 200728

About 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.

Summary

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 Products (1)

mRNA Protein Name
NM_198276.3 NP_938017.2 transmembrane protein 17

Gene Ontology

  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence Références Source
enables protein binding IPI
IPI: Inferred from physical interaction
26638075 GOA
Biological Process GO Annotation Evidence Références Source
involved in non-motile cilium assembly IMP
IMP: Inferred from mutant phenotype
26982032 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

TMEM17 Protein Structure

Transmemb_17

Transmemb_17: Predicted membrane protein (45 - 152)

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

transmembrane protein 17

TMEM17 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Références
Intra
TMEM17 Q86X19 SS18L2 Homo sapiens Q9UHA2
Validated Y2H
32296183
Intra
TMEM17 Q86X19 YIF1A Homo sapiens O95070
BioID
26638075
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
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
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 (3)
Cat. No. Nom du produit
Effect
Pureté
Rare Diseases
HY-RS14680 TMEM17 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS20606 Tmem17 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS27114 Tmem17 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source 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