Gene: MIR1469
Alternate names for this Gene: MIRN1469|hsa-mir-1469
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: 15
Location in Chromosome : 15q26.2
Description of this Gene: microRNA 1469
Type of Gene: ncRNA
Gene: NR2F2
Alternate names for this Gene: ARP-1|ARP1|CHTD4|COUPTF2|COUPTFB|COUPTFII|NF-E3|SRXX5|SVP40|TFCOUP2
Gene Summary: This gene encodes a member of the steroid thyroid hormone superfamily of nuclear receptors. The encoded protein is a ligand inducible transcription factor that is involved in the regulation of many different genes. Alternate splicing results in multiple transcript variants.
Gene is located in Chromosome: 15
Location in Chromosome : 15q26.2
Description of this Gene: nuclear receptor subfamily 2 group F member 2
Type of Gene: protein-coding
rs1555446980 in
MIR1469;NR2F2 gene and
Dysmorphic features
PMID 21172461 2011 5.78 Mb terminal deletion of chromosome 15q in a girl, evaluation of NR2F2 as candidate gene for congenital heart defects.
PMID 16251273 2005 Mouse lacking COUP-TFII as an animal model of Bochdalek-type congenital diaphragmatic hernia.
PMID 15750894 2005 Congenital diaphragmatic hernia and chromosome 15q26: determination of a candidate region by use of fluorescent in situ hybridization and array-based comparative genomic hybridization.
PMID 24702954 2014 Rare variants in NR2F2 cause congenital heart defects in humans.
PMID 18371933 2008 Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort.
PMID 26633542 2016 Clinical application of whole-exome sequencing across clinical indications.
PMID 24702427 2015 Prevalence and penetrance of ZFPM2 mutations and deletions causing congenital diaphragmatic hernia.
PMID 10215630 1999 The orphan nuclear receptor COUP-TFII is required for angiogenesis and heart development.
PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.
PMID 18798693 2008 Identification of COUP-TFII orphan nuclear receptor as a retinoic acid-activated receptor.
rs1555446980 in
MIR1469;NR2F2 gene and
Multiple congenital anomalies
PMID 21172461 2011 5.78 Mb terminal deletion of chromosome 15q in a girl, evaluation of NR2F2 as candidate gene for congenital heart defects.
PMID 10215630 1999 The orphan nuclear receptor COUP-TFII is required for angiogenesis and heart development.
PMID 24702427 2015 Prevalence and penetrance of ZFPM2 mutations and deletions causing congenital diaphragmatic hernia.
PMID 15750894 2005 Congenital diaphragmatic hernia and chromosome 15q26: determination of a candidate region by use of fluorescent in situ hybridization and array-based comparative genomic hybridization.
PMID 18798693 2008 Identification of COUP-TFII orphan nuclear receptor as a retinoic acid-activated receptor.
PMID 24702954 2014 Rare variants in NR2F2 cause congenital heart defects in humans.
PMID 16251273 2005 Mouse lacking COUP-TFII as an animal model of Bochdalek-type congenital diaphragmatic hernia.
PMID 18371933 2008 Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort.
PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.
PMID 26633542 2016 Clinical application of whole-exome sequencing across clinical indications.