CEP162 - centrosomal protein 162 Gene

Also Known as QN1; C6orf84; KIAA1009

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 22832

About CEP162

Cytogenetic location: 6q14.2-q14.3 Genomic coordinates (GRCh38): 6:84,124,250-84,227,643 (from NCBI)

This gene has 7 transcripts (splice variants) and 172 orthologues. Broad expression in testis (RPKM 6.2), thyroid (RPKM 2.2) and 24 other tissues.

Summary

Involved in cilium assembly. Located in axonemal microtubule; centriole; and centrosome. [provided by Alliance of Genome Resources, Apr 2022]

CEP162 Products (2)

mRNA Protein Name
NM_001286206.2 NP_001273135.1 centrosomal protein of 162 kDa isoform b
NM_014895.4 NP_055710.2 centrosomal protein of 162 kDa isoform a
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
23644468 GOA
Biological Process GO Annotation Evidence References Source
involved in cilium assembly IMP
IMP: Inferred from mutant phenotype
23644468 GOA
Cellular Component GO Annotation Evidence References Source
located in axonemal microtubule IDA
IDA: Inferred from direct assay
23644468 GOA
located in centriole IDA
IDA: Inferred from direct assay
23644468 GOA
located in centrosome IDA
IDA: Inferred from direct assay
21399614 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
Protein Preferred Names Protein Names

centrosomal protein of 162 kDa

  • centrosomal protein 162kDa

CEP162 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
CEP162 Q5TB80 CEP135 Homo sapiens Q66GS9 26638075
Intra
CEP162 Q5TB80 CEP290 Homo sapiens O15078 23644468
Intra
CEP162 Q5TB80 CEP290 Homo sapiens O15078 26638075
Intra
CEP162 Q5TB80 CEP290 Homo sapiens O15078 26638075
Intra
CEP162 Q5TB80 CEP120 Homo sapiens Q8N960 26638075
Intra
CEP162 Q5TB80 CEP120 Homo sapiens Q8N960 26638075
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Seckel Syndrome 7
  • SCKL7

  • Microcephalic Primordial Dwarfism, Dauber Type

  • Seckel Syndrome, Type 7

Orofaciodigital Syndrome Ix
  • OFD9

  • Orofaciodigital Syndrome With Retinal Abnormalities

  • Oral-Facial-Digital Syndrome With Retinal Abnormalities

  • Orofaciodigital Syndrome 9

  • Oral-Facial-Digital Syndrome Type 9

  • Ofds Ix

  • Oral-Facial-Digital Syndrome, Type Ix

  • Ofd Syndrome 9

  • Ofds 9

  • Oral Facial Digital Syndrome 9

  • Oral Facial Digital Syndrome Type 9

  • Orofaciodigital Syndrome Type 9

  • Orofaciodigital Syndrome, Type Ix

Retinitis Pigmentosa 83
  • RP83

  • Retinitis Pigmentosa, Type 83

Cone-Rod Dystrophy 20
  • CORD20

  • Dystrophy, Cone-Rod, Type 20

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

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

Orthologs Information

Species Symbol Source ID
Macaca mulatta CEP162 VGNC VGNC:71067
Mus musculus CEP162 MGD MGI:1925343
Canis familiaris CEP162 VGNC VGNC:39120
Bos taurus CEP162 VGNC VGNC:27195
Rattus norvegicus CEP162 RGD RGD:1307365
Felis catus CEP162 VGNC VGNC:60769
Others CEP162 NCBI