CDHR5 - cadherin related family member 5 Gene

Homo sapiens

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

Gene ID: 53841 | Gene type: protein coding

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	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	Reference	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	Reference	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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02346	CDHR5 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

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

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