CDHR5 - cadherin related family member 5 Gene

Also Known as MLPCDH; MUCDHL; MUPCDH; MU-PCDH

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 53841

About CDHR5

Cytogenetic location: 11p15.5 Genomic coordinates (GRCh38): 11:616,583-624,955 (from NCBI)

This gene has 11 transcripts (splice variants), 1 gene allele, 97 orthologues and 33 paralogues. Biased expression in small intestine (RPKM 219.8), duodenum (RPKM 209.0) and 3 other tissues.

Summary

This gene is a novel mucin-like gene that is a member of the Cadherin superfamily. While encoding nonpolymorphic tandem repeats rich in proline, serine and threonine similar to Mucin proteins, the gene also contains sequence encoding calcium-binding motifs found in all Cadherins. The role of the hybrid extracellular region and the specific function of this protein have not yet been determined. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jan 2010]

CDHR5 Products (3)

mRNA Protein Name
NM_001171968.3 NP_001165439.2 cadherin-related family member 5 isoform 4 precursor
NM_021924.5 NP_068743.3 cadherin-related family member 5 isoform 1 precursor
NM_031264.5 NP_112554.3 cadherin-related family member 5 isoform 3 precursor
Molecular Function GO Annotation Evidence References Source
enables beta-catenin binding IPI
IPI: Inferred from physical interaction
22202456 GOA
enables cell adhesion molecule binding IDA
IDA: Inferred from direct assay
24725409 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
24725409 GOA
Biological Process GO Annotation Evidence References Source
involved in brush border assembly IDA
IDA: Inferred from direct assay
32209652 GOA
involved in intermicrovillar adhesion IMP
IMP: Inferred from mutant phenotype
24725409 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
24725409 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
24725409 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
Protein Preferred Names Protein Names

cadherin-related family member 5

  • differentiation-associated catenin regulator

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
Mus musculus CDHR5 MGD MGI:1919290
Bos taurus CDHR5 VGNC VGNC:27112
Felis catus CDHR5 VGNC VGNC:68359
Rattus norvegicus CDHR5 RGD RGD:620504
Macaca mulatta CDHR5 VGNC VGNC:71158
Others CDHR5 NCBI