Gene: MIR4783

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: 2

Location in Chromosome : 2q14.3

Description of this Gene: microRNA 4783

Type of Gene: ncRNA

Gene: PROC

Alternate names for this Gene: APC|PC|PROC1|THPH3|THPH4

Gene Summary: This gene encodes a vitamin K-dependent plasma glycoprotein. The encoded protein is cleaved to its activated form by the thrombin-thrombomodulin complex. This activated form contains a serine protease domain and functions in degradation of the activated forms of coagulation factors V and VIII. Mutations in this gene have been associated with thrombophilia due to protein C deficiency, neonatal purpura fulminans, and recurrent venous thrombosis.

Gene is located in Chromosome: 2

Location in Chromosome : 2q14.3

Description of this Gene: protein C, inactivator of coagulation factors Va and VIIIa

Type of Gene: protein-coding

rs1553424043 in MIR4783;PROC gene and Deep Vein Thrombosis PMID 31064749 2019 Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

rs1553424043 in MIR4783;PROC gene and Thromboembolism PMID 31064749 2019 Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

rs1553424043 in MIR4783;PROC gene and Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant PMID 1868249 1991 The spectrum of genetic defects in a panel of 40 Dutch families with symptomatic protein C deficiency type I: heterogeneity and founder effects.

PMID 17152060 2007 Identification and computationally-based structural interpretation of naturally occurring variants of human protein C.