1. Gene
  2. PCDH9 - protocadherin 9 Gene

PCDH9 - protocadherin 9 Gene

中文名称:原钙粘蛋白 9

种属: Homo sapiens

基因 ID: 5101 | 基因类型: protein coding

关于 PCDH9

Cytogenetic location: 13q21.32 Genomic coordinates (GRCh38): 13:66,302,834-67,230,336 (from NCBI)

This gene has 6 transcripts (splice variants), 220 orthologues and 33 paralogues. Biased expression in brain (RPKM 8.9), fat (RPKM 0.9) and 2 other tissues.

功能概要

该基因编码含有钙粘蛋白结构域的跨膜蛋白的原钙粘蛋白家族和钙粘蛋白超家族的成员。这些蛋白质在钙存在的情况下介导神经组织中的细胞粘附。编码的蛋白质可能参与神经元突触连接处的信号传导。与其他原钙粘蛋白基因共享一个特征,该基因具有一个非常大的外显子,该外显子编码多个钙粘蛋白结构域和一个跨膜区域。已发现该基因编码不同亚型的可变剪接转录物变体。[RefSeq 提供,2012 年 11 月]

This gene encodes a member of the protocadherin family, and Cadherin superfamily, of transmembrane proteins containing Cadherin domains. These proteins mediate cell adhesion in neural tissues in the presence of calcium. The encoded protein may be involved in signaling at neuronal synaptic junctions. Sharing a characteristic with Other protocadherin genes, this gene has a notably large exon that encodes multiple Cadherin domains and a transmembrane region. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Nov 2012]

PCDH9 基因产物(5)

mRNA Protein Name
NM_001318372.2 NP_001305301.1 protocadherin-9 isoform 3 precursor
NM_001318373.2 NP_001305302.1 protocadherin-9 isoform 4 precursor
NM_001318374.2 NP_001305303.1 protocadherin-9 isoform 5 precursor
NM_020403.5 NP_065136.1 protocadherin-9 isoform 2 precursor
NM_203487.3 NP_982354.1 protocadherin-9 isoform 1 precursor

PCDH9 蛋白结构

Cadherin_2

Cadherin_2: Cadherin-like (26 - 117)

Cadherin

Cadherin: Cadherin domain (148 - 242)

Cadherin

Cadherin: Cadherin domain (259 - 349)

Cadherin

Cadherin: Cadherin domain (371 - 459)

Cadherin

Cadherin: Cadherin domain (476 - 563)

Cadherin

Cadherin: Cadherin domain (578 - 665)

Cadherin

Cadherin: Cadherin domain (693 - 763)

Protocadherin

Protocadherin: Protocadherin (777 - 1002)

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  • 1237 a.a.
蛋白主名 其他名称

protocadherin-9

cadherin superfamily protein VR4-11

PCDH9 抗体

目录号 产品名 应用 反应物种
HY-P84808 PCDH9 Antibody (YA4505) WB, ICC/IF, FC, ELISA Human

关联疾病

疾病名称 别名
Auditory Neuropathy, Autosomal Dominant 1

Autosomal Dominant Auditory Neuropathy 1

AUNA1

Nsdan

Auditory Neuropathy, Autosomal Dominant, 1

Auditory Neuropathy, Nonsyndromic Dominant

Nonsyndromic Dominant Auditory Neuropathy

Nonsyndromic Auditory Neuropathy Autosomal Dominant

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

Ehlers-Danlos Syndrome, Hypermobility Type

Ehlers-Danlos Syndrome, Type 3

Ehlers-Danlos Syndrome, Type Iii

EDSHMB

Eds Iii

Benign Hypermobility Syndrome

Ehlers-Danlos Syndrome Hypermobility Type

Eds3

Type Iii Ehlers-Danlos Syndrome

Ehlers-Danlos Syndrome Type 3

Es-D3

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
Mus musculus PCDH9 MGD MGI:1306801
Rattus norvegicus PCDH9 RGD RGD:1306348
Canis familiaris PCDH9 VGNC VGNC:49937
Felis catus PCDH9 VGNC VGNC:68719
Macaca mulatta PCDH9 VGNC VGNC:75778