Gene: CDHR5

Alternate names for this Gene: MLPCDH|MU-PCDH|MUCDHL|MUPCDH

Gene 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.

Gene is located in Chromosome: 11

Location in Chromosome : 11p15.5

Description of this Gene: cadherin related family member 5

Type of Gene: protein-coding

rs58688157 in CDHR5 gene and Lupus Erythematosus, Systemic PMID 26502338 2015 Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus.

rs6598008 in CDHR5 gene and Systemic Scleroderma PMID 31672989 2019 GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways.