Gene: DNMT1

Alternate names for this Gene: ADCADN|AIM|CXXC9|DNMT|HSN1E|MCMT|m.HsaI

Gene Summary: This gene encodes an enzyme that transfers methyl groups to cytosine nucleotides of genomic DNA. This protein is the major enzyme responsible for maintaining methylation patterns following DNA replication and shows a preference for hemi-methylated DNA. Methylation of DNA is an important component of mammalian epigenetic gene regulation. Aberrant methylation patterns are found in human tumors and associated with developmental abnormalities. Variation in this gene has been associated with cerebellar ataxia, deafness, and narcolepsy, and neuropathy, hereditary sensory, type IE. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 19

Location in Chromosome : 19p13.2

Description of this Gene: DNA methyltransferase 1

Type of Gene: protein-coding

Gene: S1PR2

Alternate names for this Gene: AGR16|DFNB68|EDG-5|EDG5|Gpcr13|H218|LPB2|S1P2

Gene Summary: This gene encodes a member of the G protein-coupled receptors, as well as the EDG family of proteins. The encoded protein is a receptor for sphingosine 1-phosphate, which participates in cell proliferation, survival, and transcriptional activation. Defects in this gene have been associated with congenital profound deafness.

Gene is located in Chromosome: 19

Location in Chromosome : 19p13.2

Description of this Gene: sphingosine-1-phosphate receptor 2

Type of Gene: protein-coding

rs869312749 in DNMT1;S1PR2 gene and DEAFNESS, AUTOSOMAL RECESSIVE 68 PMID 26805784 2016 Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2.

rs117064827 in DNMT1;S1PR2 gene and Reticulocyte count (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.