Gene: CTU2

Alternate names for this Gene: C16orf84|MFRG|NCS2|UPF0432

Gene Summary: This gene encodes a protein which is involved in the post-transcriptional modification of transfer RNAs (tRNAs). The encoded protein plays a role in thiolation of uridine residue present at the wobble position in a subset of tRNAs, resulting in enhanced codon reading accuracy. Alternative splicing results in multiple transcript variants encoding different isoforms.

Gene is located in Chromosome: 16

Location in Chromosome : 16q24.3

Description of this Gene: cytosolic thiouridylase subunit 2

Type of Gene: protein-coding

Gene: MIR4722

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: 16

Location in Chromosome : 16q24.3

Description of this Gene: microRNA 4722

Type of Gene: ncRNA

Gene: PIEZO1

Alternate names for this Gene: DHS|FAM38A|LMPH3|LMPHM6|Mib

Gene Summary: The protein encoded by this gene is a mechanically-activated ion channel that links mechanical forces to biological signals. The encoded protein contains 36 transmembrane domains and functions as a homotetramer. Defects in this gene have been associated with dehydrated hereditary stomatocytosis.

Gene is located in Chromosome: 16

Location in Chromosome : 16q24.3

Description of this Gene: piezo type mechanosensitive ion channel component 1

Type of Gene: protein-coding

rs577860843 in CTU2;MIR4722;PIEZO1 gene and LYMPHATIC MALFORMATION 6 PMID 26333996 2015 Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis.