2. Gene
  3. PCDH17 - protocadherin 17 Gene

PCDH17 - protocadherin 17 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：原钙粘蛋白 17

种属: Homo sapiens

同用名: PCH68; PCDH68

基因 ID: 27253 | 基因类型: protein coding

关于 PCDH17

Cytogenetic location: 13q21.1 Genomic coordinates (GRCh38): 13:57,630,108-57,729,311 (from NCBI)

This gene has 4 transcripts (splice variants), 270 orthologues and 61 paralogues. Broad expression in spleen (RPKM 10.8), brain (RPKM 7.3) and 14 other tissues.

功能概要

该基因属于原钙粘蛋白基因家族，是钙粘蛋白超家族的一个亚家族。编码的蛋白质包含六个细胞外钙粘蛋白结构域、一个跨膜结构域和一个不同于经典钙粘蛋白的细胞质尾部。编码的蛋白质可能在大脑中特定细胞间连接的建立和功能中发挥作用。[RefSeq 提供，2008 年 7 月]

This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein contains six extracellular cadherin domains, a transmembrane domain, and a cytoplasmic tail differing from those of the classical Cadherins. The encoded protein may play a role in the establishment and function of specific cell-cell connections in the brain. [provided by RefSeq, Jul 2008]

PCDH17 基因产物(1)

mRNA Protein Name
NM_001040429.3 NP_001035519.1 protocadherin-17 precursor
基因本体论
  • 分子功能
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
19945174 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

PCDH17 蛋白结构

Cadherin_2

Cadherin_2: Cadherin-like (20 - 111)

Cadherin

Cadherin: Cadherin domain (138 - 233)

Cadherin

Cadherin: Cadherin domain (248 - 341)

Cadherin

Cadherin: Cadherin domain (358 - 463)

Cadherin

Cadherin: Cadherin domain (477 - 574)

Cadherin

Cadherin: Cadherin domain (596 - 681)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1159 a.a.
蛋白主名 其他名称

protocadherin-17

protocadherin 68

PCDH17 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
PCDH17 O14917 YAF2 Homo sapiens Q8IY57-5
Y2H Array
32296183
种属内
PCDH17 O14917 YAF2 Homo sapiens Q8IY57-5
Y2H Prey Pooling
32296183
种属内
PCDH17 O14917 YAF2 Homo sapiens Q8IY57-5
Validated Y2H
32296183
种属内
PCDH17 O14917 TSC22D4 Homo sapiens Q9Y3Q8
Y2H Prey Pooling
32296183
种属内
PCDH17 O14917 TSC22D4 Homo sapiens Q9Y3Q8
Validated Y2H
32296183
种属内
PCDH17 O14917 TSC22D4 Homo sapiens Q9Y3Q8
Y2H Array
32296183
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
Developmental And Epileptic Encephalopathy 9

Efmr

Epileptic Encephalopathy, Early Infantile, 9

Eiee9

DEE9

Juberg-Hellman Syndrome

Epilepsy, Female-Restricted, With Mental Retardation

Developmental And Epileptic Encephalopathy, 9

Early Infantile Epileptic Encephalopathy 9

Early Infantile Female-Limited Epilecptic Encephalopathy

Female Restricted Epilepsy With Mental Retardation

Juberg Hellman Syndrome

Pcdh19-Related Female-Limited Epilepsy

Epilepsy And Intellectual Disability Limited To Females

Epilepsy, Female Restricted, With Intellectual Disability

Familial Epilepsy And Intellectual Disability Limited To Females

Female Restricted Epilepsy With Intellectual Delays

Pcdh19-Related Fle

Pcdh19-Related Infantile Epileptic Encephalopathy

Female Restricted Epilepsy With Intellectual Disability

Encephalopathy, Epileptic, Early Infantile, Type 9
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS10126 PCDH17 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus PCDH17 RGD RGD:1304753
Bos taurus PCDH17 VGNC VGNC:32618
Canis familiaris PCDH17 VGNC VGNC:57451
Felis catus PCDH17 VGNC VGNC:64060
Macaca mulatta PCDH17 VGNC VGNC:75599
Mus musculus PCDH17 MGD MGI:2684924
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