Gene: PRPF40B

Alternate names for this Gene: HYPC

Gene Summary: This gene encodes a WW-domain containing protein similar to yeast splicing factor PRP40. This protein has been shown to interact with Huntingtin and methyl CpG binding protein 2 (MeCP2). Alternative splicing results in different transcript variants.

Gene is located in Chromosome: 12

Location in Chromosome : 12q13.12

Description of this Gene: pre-mRNA processing factor 40 homolog B

Type of Gene: protein-coding

Gene: FAM186B

Alternate names for this Gene: C12orf25

Gene Summary: This gene product is a member of the FAM186 family, however, its exact function is not known. Alternatively spliced transcript variants have been found for this gene.

Gene is located in Chromosome: 12

Location in Chromosome : 12q13.12

Description of this Gene: family with sequence similarity 186 member B

Type of Gene: protein-coding

rs549662742 in PRPF40B;FAM186B gene and Nephronophthisis PMID 26489029 2016 Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity.

rs7977389 in PRPF40B;FAM186B gene and Systolic Pressure PMID 27841878 2017 Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.