PCDH9 - protocadherin 9 Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 5101

About 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.

Summary

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 Products (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 Protein Structure

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)

  • 0
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  • 1237 a.a.
Protein Preferred Names Protein Names

protocadherin-9

  • cadherin superfamily protein VR4-11

PCDH9 Antibodies

Cat. No. Product Name Application Reactivity
HY-P84808 PCDH9 Antibody (YA4505) WB, ICC/IF, FC, ELISA Human
HY-P84808A PCDH9 Antibody (YA4505)(PBS only) WB, ICC/IF, FC, ELISA Human

Related Diseases

Diseases Alias
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

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
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
Others PCDH9 NCBI