PCDH9 - protocadherin 9 Gene

Homo sapiens

Gene ID: 5101 | Gene type: protein coding

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

Protocadherin

0
200
400
600
800
1000
1237 a.a.

Protein Preferred Names

Protein Names

protocadherin-9

cadherin superfamily protein VR4-11

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10132	PCDH9 Human Pre-designed siRNA Set A		/	Unkown

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

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