PCDH18 - protocadherin 18 Gene

Also Known as PCDH68L

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 54510

About PCDH18

Cytogenetic location: 4q28.3 Genomic coordinates (GRCh38): 4:137,518,918-137,532,494 (from NCBI)

This gene has 8 transcripts (splice variants), 274 orthologues and 61 paralogues. Broad expression in placenta (RPKM 18.1), endometrium (RPKM 17.7) and 21 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]

PCDH18 Products (2)

mRNA Protein Name
NM_001300828.2 NP_001287757.1 protocadherin-18 isoform 2 precursor
NM_019035.5 NP_061908.1 protocadherin-18 isoform 1 precursor
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PCDH18 Protein Structure

Cadherin_2

Cadherin_2: Cadherin-like (29 - 111)

Cadherin

Cadherin: Cadherin domain (144 - 236)

Cadherin

Cadherin: Cadherin domain (252 - 344)

Cadherin

Cadherin: Cadherin domain (371 - 455)

Cadherin

Cadherin: Cadherin domain (470 - 566)

Cadherin

Cadherin: Cadherin domain (588 - 672)

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  • 1135 a.a.
Protein Preferred Names Protein Names

protocadherin-18

  • protocadherin 68-like protein

PCDH18 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
PCDH18 Q9HCL0 UBQLN1 Homo sapiens Q9UMX0 32296183
Intra
PCDH18 Q9HCL0 UBQLN1 Homo sapiens Q9UMX0 32296183
Intra
PCDH18 Q9HCL0 UBQLN1 Homo sapiens Q9UMX0 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Patent Foramen Ovale
  • Atrial Septal Defect Within Oval Fossa

  • Foramen Ovale Patent

  • Ostium Secundum Atrial Septal Defect

  • Atrial Septal Defect, Ostium Secundum Type

  • Foramen Ovale, Patent

  • Defect, Patent Or Persistent, Ostium Secundum

  • Ostium Secundum Type Atrial Septal Defect

  • Persistent Ostium Secundum

  • Asd Ostium Secundum Type

  • Ostium Secundum Asd

  • Osasd

  • Asd, Ostium Secundum Type

  • Pfo - [Patent Foramen Ovale]

  • Open Foramen Ovale

  • Open Oval Foramen

  • Persistent Foramen Ovale

  • Secundum Atrial Septal Defect

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 PCDH18 RGD RGD:1305870
Bos taurus PCDH18 VGNC VGNC:32619
Canis familiaris PCDH18 VGNC VGNC:44296
Macaca mulatta PCDH18 VGNC VGNC:75600
Mus musculus PCDH18 MGD MGI:1920423
Felis catus PCDH18 VGNC VGNC:64061
Others PCDH18 NCBI