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RIPPLY2-CYB5R4 RIPPLY2-CYB5R4 readthrough [ Homo sapiens (human) ]

Gene ID: 123956252, updated on 10-Oct-2023

Summary

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Gene symbol
RIPPLY2-CYB5R4
Gene description
RIPPLY2-CYB5R4 readthrough
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This locus represents naturally occurring readthrough transcription between the neighboring RIPPLY2 (ripply transcriptional repressor 2) and CYB5R4 (cytochrome b5 reductase 4) genes on chromosome 6. Multiple readthrough transcript variants exist for this readthrough gene. One variant encodes a protein that shares sequence identity with the downstream gene product but lacks the N-terminal region and initiates translation from an in-frame, downstream start codon. Additional readthrough transcript variants are candidates for nonsense-mediated mRNA decay (NMD), and are unlikely to produce a protein product. [provided by RefSeq, Jan 2022]
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Genomic context

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See RIPPLY2-CYB5R4 in Genome Data Viewer
Location:
6q14.2
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (83853360..83967423)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (85076643..85190710)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (84563079..84677142)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene synaptosome associated protein 91 Neighboring gene Sharpr-MPRA regulatory region 13924 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17359 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17360 Neighboring gene uncharacterized LOC105377879 Neighboring gene MPRA-validated peak5930 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17361 Neighboring gene Sharpr-MPRA regulatory region 3398 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17362 Neighboring gene ripply transcriptional repressor 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:84615227-84615728 Neighboring gene cytochrome b5 reductase 4 Neighboring gene CRISPRi-validated cis-regulatory element chr6.3721 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:84686166-84687365 Neighboring gene MPRA-validated peak5932 silencer Neighboring gene long intergenic non-protein coding RNA 2857 Neighboring gene VISTA enhancer hs2063 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:84782671-84783171 Neighboring gene melanocortin 2 receptor accessory protein 2 Neighboring gene MPRA-validated peak5934 silencer Neighboring gene centrosomal protein 162

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article

GeneRIFs: Gene References Into Functions

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See Variation Viewer (GRCh37.p13)

General gene information

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General protein information

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Preferred Names
cytochrome b5 reductase 4
NP_001387703.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001400774.1 → NP_001387703.1  cytochrome b5 reductase 4

    Status: VALIDATED

    Source sequence(s)
    AL034347, AL139232
    UniProtKB/TrEMBL
    B2R7W7

RNA

  1. NR_174603.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL034347, AL139232

  2. NR_174604.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL034347, AL139232

  3. NR_174605.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL034347, AL139232

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    83853360..83967423
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    85076643..85190710
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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