CDHR2 - cadherin related family member 2 Gene

Also Known as PCLCK; PCLKC; PCDH24

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 54825

About CDHR2

Cytogenetic location: 5q35.2 Genomic coordinates (GRCh38): 5:176,542,511-176,595,974 (from NCBI)

This gene has 7 transcripts (splice variants), 116 orthologues and 33 paralogues. Biased expression in duodenum (RPKM 125.9), small intestine (RPKM 110.9) and 3 other tissues.

Summary

This gene is a member of the protocadherin family, which represents a subset of the larger Cadherin superfamily. The members of the protocadherin family encode non-classical Cadherins that function as calcium-dependent cell-cell adhesion molecules. This protocadherin represents a new candidate for tumor suppression. Alternatively spliced transcript variants that encode the same protein have been identified. [provided by RefSeq, Jan 2010]

CDHR2 Products (2)

mRNA Protein Name
NM_001171976.2 NP_001165447.1 cadherin-related family member 2 precursor
NM_017675.6 NP_060145.3 cadherin-related family member 2 precursor
Molecular Function GO Annotation Evidence References Source
enables cell adhesion molecule binding IDA
IDA: Inferred from direct assay
24725409 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
12117771 GOA
Biological Process GO Annotation Evidence References Source
involved in brush border assembly IDA
IDA: Inferred from direct assay
32209652 GOA
involved in cell-cell adhesion mediated by cadherin IDA
IDA: Inferred from direct assay
12117771 GOA
involved in epithelial cell differentiation IDA
IDA: Inferred from direct assay
12117771 GOA
involved in intermicrovillar adhesion IMP
IMP: Inferred from mutant phenotype
24725409 GOA
involved in negative regulation of cell growth involved in contact inhibition IDA
IDA: Inferred from direct assay
12117771 GOA
involved in regulation of microvillus length IMP
IMP: Inferred from mutant phenotype
24725409 GOA
Cellular Component GO Annotation Evidence References Source
located in apical plasma membrane IDA
IDA: Inferred from direct assay
12117771 GOA
located in brush border IDA
IDA: Inferred from direct assay
21330445 GOA
located in brush border membrane IDA
IDA: Inferred from direct assay
24725409 GOA
located in microvillus IDA
IDA: Inferred from direct assay
32209652 GOA
located in microvillus membrane IDA
IDA: Inferred from direct assay
12117771 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
24725409 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

CDHR2 Protein Structure

Cadherin

Cadherin: Cadherin domain (246 - 339)

Cadherin

Cadherin: Cadherin domain (485 - 576)

Cadherin

Cadherin: Cadherin domain (590 - 686)

Cadherin

Cadherin: Cadherin domain (700 - 796)

Cadherin

Cadherin: Cadherin domain (938 - 1039)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1310 a.a.
Protein Preferred Names Protein Names

cadherin-related family member 2

  • protocadherin-24

CDHR2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
CDHR2 Q9BYE9 MYO7B Homo sapiens Q6PIF6 24725409
Intra
CDHR2 Q9BYE9 MYO7B Homo sapiens Q6PIF6 24725409
Intra
CDHR2 Q9BYE9 MAST2 Homo sapiens Q6P0Q8
Y2H
12117771
Intra
CDHR2 Q9BYE9 CDHR5 Homo sapiens Q9HBB8-1 24725409
Intra
CDHR2 Q9BYE9 CDHR5 Homo sapiens Q9HBB8-1
SEM
24725409
Intra
CDHR2 Q9BYE9 USH1C Homo sapiens Q9Y6N9-1 24725409
Intra
CDHR2 Q9BYE9 CDHR5 Homo sapiens Q9HBB8-2 24725409
Intra
CDHR2 Q9BYE9 CDHR5 Homo sapiens Q9HBB8-2
SEM
24725409
Intra
CDHR2 Q9BYE9 CDHR5 Homo sapiens Q9HBB8-2 24725409
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Usher Syndrome
  • Deafness-Retinitis Pigmentosa Syndrome

  • Dystrophia Retinae Pigmentosa-Dysostosis Syndrome

  • Graefe-Usher Syndrome

  • Hallgren Syndrome

  • Usher'S Syndrome

  • Retinitis Pigmentosa-Deafness Syndrome

  • Retinitis Pigmentosa-Hearing Loss Syndrome

  • Ush

  • Usher Syndromes

Usher Syndrome, Type I
  • USH1

  • Usher Syndrome Type 1

  • Us1

  • Usher Syndrome, Type 1b

  • Usher Syndrome Type 1e

  • Retinitis Pigmentosa And Congenital Deafness

  • Usher Syndrome, Type Ie

  • USH1E

  • Usher Syndrome, Type 1e

  • Usher Syndrome, Type 1a

  • Usher Syndrome, Type Ib

  • Usher Syndrome Type 1b

  • Usher Syndrome Type Ie

  • Usher Syndrome Type I

  • Usher 1

  • Usher Syndrome, Type 1

  • Ush1a

  • Usher Syndrome, Type I, French Variety

  • Usher Syndrome, Type Ia

  • Usher Syndrome 1b

  • USH1B

  • Usher'S Syndrome Type 1b

  • Usher Syndrome Type Ib

  • Ushib

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 CDHR2 RGD RGD:1560576
Bos taurus CDHR2 VGNC VGNC:27109
Canis familiaris CDHR2 VGNC VGNC:39038
Mus musculus CDHR2 MGD MGI:2687323
Felis catus CDHR2 VGNC VGNC:60689
Macaca mulatta CDHR2 VGNC VGNC:110476
Others CDHR2 NCBI