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PCDHGC4 - protocadherin gamma subfamily C, 4 Gene

Also Known as NEDGS; PCDH-GAMMA-C4

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 56098

About PCDHGC4

Cytogenetic location: 5q31.3 Genomic coordinates (GRCh38): 5:141,485,030-141,512,975 (from NCBI)

This gene has 4 transcripts (splice variants), 25 orthologues, 61 paralogues and is associated with 1 phenotype.

Summary

This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 Cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]

PCDHGC4 Products (3)

mRNA	Protein	Name
NM_001386884.1	NP_001373813.1	protocadherin gamma-C4 isoform 4
NM_018928.3	NP_061751.1	protocadherin gamma-C4 isoform 1 precursor
NM_032406.1	NP_115782.1	protocadherin gamma-C4 isoform 2 precursor

PCDHGC4 Protein Structure

Cadherin_2

Cadherin

0
200
400
600
800
938 a.a.

Protein Preferred Names	Protein Names
protocadherin gamma-C4

Related Diseases

Diseases	Alias
Neurodevelopmental Disorder With Poor Growth And Skeletal Anomalies	NEDGS
Usher Syndrome, Type If	Usher Syndrome Type 1f USH1F Usher Syndrome, Type 1f Usher Syndrome Type If Usher Syndrome 1f Usher'S Syndrome Type 1f
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
Intellectual Developmental Disorder, Autosomal Dominant 21	MRD21 Mental Retardation, Autosomal Dominant 21 Autosomal Dominant Non-Syndromic Intellectual Disability 21 Autosomal Dominant Intellectual Developmental Disorder 21 Autosomal Dominant Mental Retardation 21 Ctcf-Related Neurodevelopmental Disorder Mental Retardation, Autosomal Dominant, Type 21
Deafness, Autosomal Recessive 23	DFNB23 Autosomal Recessive Nonsyndromic Deafness 23 Autosomal Recessive Deafness 23 Deafness, Autosomal Recessive, 23 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 23 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 23 Deafness, Autosomal Recessive, Type 23
Williams-Beuren Syndrome	Williams Syndrome WBS Wms Deletion 7q11.23 Monosomy 7q11.23 Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb Fanconi Schlesinger Syndrome Beuren Syndrome Elfin Facies Syndrome Elfin Facies With Hypercalcemia Hypercalcemia-Supravalvar Aortic Stenosis Ws
Early Infantile Epileptic Encephalopathy	Early Infantile Epileptic Encephalopathy With Burst-Suppression Early Infantile Epileptic Encephalopathy With Suppression Bursts Eiee Early Infantile Epileptic Encephalopathy With Suppression-Bursts Ohtahara Syndrome Encephalopathy, Epileptic, Early Infantile

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

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10143	PCDHGC4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	PCDHGC4	MGD	MGI:1935203