Gene: MSH5-SAPCD1

Alternate names for this Gene: MSH5-C6orf26

Gene Summary: This locus represents naturally occurring read-through transcription between the neighboring mutS homolog 5 (MSH5) and chromosome 6 open reading frame 26 (C6orf26) genes. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is thus unlikely to produce a protein product.

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.33

Description of this Gene: MSH5-SAPCD1 readthrough (NMD candidate)

Type of Gene: ncRNA

Gene: MSH5

Alternate names for this Gene: G7|MUTSH5|NG23|POF13

Gene Summary: This gene encodes a member of the mutS family of proteins that are involved in DNA mismatch repair and meiotic recombination. This protein is similar to a Saccharomyces cerevisiae protein that participates in segregation fidelity and crossing-over events during meiosis. This protein plays a role in promoting ionizing radiation-induced apoptosis. This protein forms hetero-oligomers with another member of this family, mutS homolog 4. Polymorphisms in this gene have been linked to various human diseases, including IgA deficiency, common variable immunodeficiency, and premature ovarian failure. Alternative splicing results multiple transcript variants. Read-through transcription also exists between this gene and the downstream chromosome 6 open reading frame 26 (C6orf26) gene.

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.33

Description of this Gene: mutS homolog 5

Type of Gene: protein-coding

rs3131378 in MSH5-SAPCD1;MSH5 gene and Carcinoma of lung PMID 28604730 2017 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes.

rs707939 in MSH5-SAPCD1;MSH5 gene and Child Development Disorders, Pervasive PMID 28540026 2017 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.

rs3117574 in MSH5-SAPCD1;MSH5 gene and Rheumatoid Arthritis PMID 21156761 2011 A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis.

PMID 19503088 2009 REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis.

PMID 17804836 2007 TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study.

rs707939 in MSH5-SAPCD1;MSH5 gene and Schizophrenia PMID 28540026 2017 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.

rs707939 in MSH5-SAPCD1;MSH5 gene and Systemic Scleroderma PMID 20383147 2010 Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus.

rs707939 in MSH5-SAPCD1;MSH5 gene and Ulcerative Colitis PMID 24837172 2015 Genome-wide association scan in north Indians reveals three novel HLA-independent risk loci for ulcerative colitis.