1. Gene
  2. PCDH20 - protocadherin 20 Gene

PCDH20 - protocadherin 20 Gene

Homo sapiens

Also known as PCDH13

Gene ID: 64881 | Gene type: protein coding

About PCDH20

Cytogenetic location: 13q21.2 Genomic coordinates (GRCh38): 13:61,409,685-61,415,849 (from NCBI)

This gene has 1 transcript (splice variant), 205 orthologues and 33 paralogues. Broad expression in brain (RPKM 4.5), lung (RPKM 1.5) and 14 other tissues.

Summary

This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. This gene encodes a protein which contains 6 extracellular cadherin domains, a transmembrane domain and a cytoplasmic tail differing from those of the classical Cadherins. Although its specific function is undetermined, the cadherin-related neuronal receptor is thought to play a role in the establishment and function of specific cell-cell connections in the brain. [provided by RefSeq, Jul 2008]

PCDH20 Products(1)

mRNA Protein Name
NM_022843.4 NP_073754.2 protocadherin-20 precursor

PCDH20 Protein Structure

Cadherin

Cadherin: Cadherin domain (216 - 310)

Cadherin

Cadherin: Cadherin domain (326 - 401)

Cadherin

Cadherin: Cadherin domain (542 - 630)

Cadherin

Cadherin: Cadherin domain (644 - 732)

Cadherin

Cadherin: Cadherin domain (756 - 843)

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  • 951 a.a.
Protein Preferred Names Protein Names

protocadherin-20

protocadherin 13

Related Diseases

Diseases Alias
Trichorhinophalangeal Syndrome, Type I

Trichorhinophalangeal Dysplasia Type I

TRPS1

Trichorhinophalangeal Syndrome Type I

Trps I

Trichorhinophalangeal Syndrome Type 1

Type I Trichorhinophalangeal Syndrome

Giedion Syndrome

Trp Syndrome

Tricho-Rhino-Phalangeal Syndrome 1

Trichorhinophalangeal Syndrome, Type Iii

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
Rattus norvegicus PCDH20 RGD RGD:1306297
Canis familiaris PCDH20 VGNC VGNC:57452
Mus musculus PCDH20 MGD MGI:2443376
Felis catus PCDH20 VGNC VGNC:102282