1. Gene
  2. PCDH7 - protocadherin 7 Gene

PCDH7 - protocadherin 7 Gene

中文名称:原钙粘蛋白 7

种属: Homo sapiens

同用名: BHPCDH; BH-Pcdh; PPP1R120

基因 ID: 5099 | 基因类型: protein coding

关于 PCDH7

Cytogenetic location: 4p15.1 Genomic coordinates (GRCh38): 4:30,720,369-31,146,800 (from NCBI)

This gene has 13 transcripts (splice variants), 206 orthologues and 33 paralogues. Broad expression in brain (RPKM 10.8), spleen (RPKM 5.9) and 17 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。该基因编码的蛋白质具有包含 7 个钙粘蛋白重复序列的胞外结构域。该基因产物是一种完整的膜蛋白,被认为在细胞间识别和粘附中发挥作用。选择性剪接产生具有独特细胞质尾巴的亚型。[RefSeq 提供,2008 年 7 月]

This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The gene encodes a protein with an extracellular domain containing 7 cadherin repeats. The gene product is an integral membrane protein that is thought to function in cell-cell recognition and adhesion. Alternative splicing yields isoforms with unique cytoplasmic tails. [provided by RefSeq, Jul 2008]

PCDH7 基因产物(3)

mRNA Protein Name
NM_001173523.2 NP_001166994.1 protocadherin-7 isoform d precursor
NM_002589.4 NP_002580.2 protocadherin-7 isoform a precursor
NM_032457.4 NP_115833.2 protocadherin-7 isoform c precursor

PCDH7 蛋白结构

Cadherin_2

Cadherin_2: Cadherin-like (34 - 114)

Cadherin

Cadherin: Cadherin domain (255 - 298)

Cadherin

Cadherin: Cadherin domain (313 - 405)

Cadherin

Cadherin: Cadherin domain (430 - 525)

Cadherin

Cadherin: Cadherin domain (542 - 629)

Cadherin

Cadherin: Cadherin domain (644 - 731)

Cadherin

Cadherin: Cadherin domain (758 - 839)

Protocadherin

Protocadherin: Protocadherin (842 - 1055)

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  • 1000
  • 1069 a.a.
蛋白主名 其他名称

protocadherin-7

BH-protocadherin (brain-heart)

重组 PCDH7 蛋白

目录号 产品名 蛋白编号 纯度
HY-P75956 PCDH7 Protein, Human (sf9, His) O60245-1/NP_002580.2 (A29-S879) ≥95%

关联疾病

疾病名称 别名
Astigmatism
Epilepsy, Myoclonic Juvenile

Juvenile Myoclonic Epilepsy

Janz Syndrome

Jme

Myoclonic Epilepsy, Juvenile, Susceptibility To, 1

EJM

Myoclonic Epilepsy, Juvenile

Petit Mal, Impulsive

Myoclonic Epilepsy, Juvenile 1

Myoclonic Epilepsy, Juvenile, 1

Adolescent Myoclonic Epilepsy

Juvenile Myoclonus Epilepsy

Juvenile Myoclonic Epilepsy 1

EJM1

Petit Mal Impulsive

Susceptibility To Juvenile Myoclonic Epilepsy 1

Myoclonic Epilepsy Juvenile

Epilepsy, Myoclonic, Juvenile

Myoclonic Epilepsy Of Janz

Jme - [Juvenile Myoclonic Epilepsy]

Benign Epilepsy With Centrotemporal Spikes

Rolandic Epilepsy

Benign Rolandic Epilepsy

Epilepsy, Rolandic

Bcects

Benign Childhood Epilepsy With Centrotemporal Spike

Sylvan Seizures

Becrs

Bects

Bre

Benign Epilepsy Of Childhood With Centrotemporal Spikes

Benign Familial Epilepsy Of Childhood With Rolandic Spikes

Centrotemporal Epilepsy

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
Canis familiaris PCDH7 VGNC VGNC:53195
Macaca mulatta PCDH7 VGNC VGNC:75777
Rattus norvegicus PCDH7 RGD RGD:1303209
Felis catus PCDH7 VGNC VGNC:68717
Mus musculus PCDH7 MGD MGI:1860487
Bos taurus PCDH7 VGNC VGNC:32621
Others PCDH7 NCBI