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: MIR4322

Alternate names for this Gene: -

Gene Summary: microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop.

Gene is located in Chromosome: 19

Location in Chromosome : 19p13.2

Description of this Gene: microRNA 4322

Type of Gene: ncRNA

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