Gene: GABPB1

Alternate names for this Gene: BABPB2|E4TF1|E4TF1-47|E4TF1-53|E4TF1B|GABPB|GABPB-1|GABPB2|NRF2B1|NRF2B2

Gene Summary: This gene encodes the GA-binding protein transcription factor, beta subunit. This protein forms a tetrameric complex with the alpha subunit, and stimulates transcription of target genes. The encoded protein may be involved in activation of cytochrome oxidase expression and nuclear control of mitochondrial function. The crystal structure of a similar protein in mouse has been resolved as a ternary protein complex. Multiple transcript variants encoding distinct isoforms have been identified for this gene.

Gene is located in Chromosome: 15

Location in Chromosome : 15q21.2

Description of this Gene: GA binding protein transcription factor subunit beta 1

Type of Gene: protein-coding

Gene: MIR4712

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: 15

Location in Chromosome : 15q21.2

Description of this Gene: microRNA 4712

Type of Gene: ncRNA

Gene: GABPB1-AS1

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

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rs493971 in GABPB1;MIR4712;GABPB1-AS1 gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs493971 in GABPB1;MIR4712;GABPB1-AS1 gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.