1. Gene
  2. CEP162 - centrosomal protein 162 Gene

CEP162 - centrosomal protein 162 Gene

中文名称:中心体蛋白 162

种属: Homo sapiens

同用名: QN1; C6orf84; KIAA1009

基因 ID: 22832 | 基因类型: protein coding

关于 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.

功能概要

参与纤毛组装。位于轴丝微管;中心粒;和中心体。 [由基因组资源联盟提供,2022 年 4 月]

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

CEP162 基因产物(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
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
23644468 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cilium assembly IMP
IMP: 通过突变表型推断
23644468 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in axonemal microtubule IDA
IDA: 通过直接分析推断
23644468 GOA
located in centriole IDA
IDA: 通过直接分析推断
23644468 GOA
located in centrosome IDA
IDA: 通过直接分析推断
21399614 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
蛋白主名 其他名称

centrosomal protein of 162 kDa

centrosomal protein 162kDa

CEP162 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
Intra CEP162 Q5TB80 CEP135 Homo sapiens Q66GS9
Anti Tag CoIP
26638075
Intra CEP162 Q5TB80 CEP290 Homo sapiens O15078
Anti Bait CoIP
23644468
Intra CEP162 Q5TB80 CEP290 Homo sapiens O15078
BioID
26638075
Intra CEP162 Q5TB80 CEP290 Homo sapiens O15078
Anti Tag CoIP
26638075
Intra CEP162 Q5TB80 CEP120 Homo sapiens Q8N960
BioID
26638075
Intra CEP162 Q5TB80 CEP120 Homo sapiens Q8N960
Anti Tag CoIP
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
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

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
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