Gene: PNKD

Alternate names for this Gene: BRP17|DYT8|FKSG19|FPD1|KIPP1184|MR-1|MR-1S|MR1|PDC|PKND1|PNKD1|R1|TAHCCP2

Gene Summary: This gene is thought to play a role in the regulation of myofibrillogenesis. Mutations in this gene have been associated with the movement disorder paroxysmal non-kinesigenic dyskinesia. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 2

Location in Chromosome : 2q35

Description of this Gene: PNKD metallo-beta-lactamase domain containing

Type of Gene: protein-coding

Gene: TMBIM1

Alternate names for this Gene: LFG3|MST100|MSTP100|PP1201|RECS1

Gene Summary:

Gene is located in Chromosome: 2

Location in Chromosome : 2q35

Description of this Gene: transmembrane BAX inhibitor motif containing 1

Type of Gene: protein-coding

Gene: MIR6513

Alternate names for this Gene: hsa-mir-6513|mir-6513

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: 2

Location in Chromosome : 2q35

Description of this Gene: microRNA 6513

Type of Gene: ncRNA

rs2292553 in PNKD;TMBIM1;MIR6513 gene and Biliary calculi PMID 30504769 2018 Genome-wide association meta-analysis yields 20 loci associated with gallstone disease.

rs2292553 in PNKD;TMBIM1;MIR6513 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.