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    UQCRC2 ubiquinol-cytochrome c reductase core protein 2 [ Homo sapiens (human) ]

    Gene ID: 7385, updated on 23-Nov-2023

    Summary

    Official Symbol
    UQCRC2provided by HGNC
    Official Full Name
    ubiquinol-cytochrome c reductase core protein 2provided by HGNC
    Primary source
    HGNC:HGNC:12586
    See related
    Ensembl:ENSG00000140740 MIM:191329; AllianceGenome:HGNC:12586
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    QCR2; UQCR2; MC3DN5
    Summary
    The protein encoded by this gene is located in the mitochondrion, where it is part of the ubiquinol-cytochrome c reductase complex (also known as complex III). This complex constitutes a part of the mitochondrial respiratory chain. Defects in this gene are a cause of mitochondrial complex III deficiency nuclear type 5. [provided by RefSeq, Jul 2015]
    Expression
    Ubiquitous expression in heart (RPKM 179.2), duodenum (RPKM 111.5) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See UQCRC2 in Genome Data Viewer
    Location:
    16p12.2
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (21953361..21983660)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (22233531..22263842, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (21964682..21994981)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA U13 Neighboring gene SMG1 pseudogene 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:21945923-21946424 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:21946425-21946924 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10562 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:21964563-21965280 Neighboring gene ABCA3 pseudogene 1 Neighboring gene PDZ domain containing 9 Neighboring gene cell division cycle associated 8 pseudogene Neighboring gene islet cell autoantigen 1, 69kDa pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10565 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7258 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr16:22037440-22038639 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7259 Neighboring gene modulator of smoothened Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10566 Neighboring gene uncharacterized LOC124903665 Neighboring gene Sharpr-MPRA regulatory region 14412

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables metalloendopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in aerobic respiration TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cellular respiration NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in mitochondrial electron transport, ubiquinol to cytochrome c NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in oxidative phosphorylation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    cytochrome b-c1 complex subunit 2, mitochondrial
    Names
    complex III subunit 2
    cytochrome bc-1 complex core protein II
    ubiquinol-cytochrome c reductase core protein II
    ubiquinol-cytochrome-c reductase complex core protein 2
    NP_003357.2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_042228.1 RefSeqGene

      Range
      5298..35597
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_003366.4NP_003357.2  cytochrome b-c1 complex subunit 2, mitochondrial precursor

      See identical proteins and their annotated locations for NP_003357.2

      Status: REVIEWED

      Source sequence(s)
      AK094006, BQ181225
      Consensus CDS
      CCDS10601.1
      UniProtKB/Swiss-Prot
      B3KSN4, P22695, Q9BQ05
      UniProtKB/TrEMBL
      H3BRG4
      Related
      ENSP00000268379.4, ENST00000268379.9
      Conserved Domains (1) summary
      COG0612
      Location:37436
      PqqL; Predicted Zn-dependent peptidase [General function prediction only]

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      21953361..21983660
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_017852933.1 Reference GRCh38.p14 PATCHES

      Range
      1121378..1151678 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      22233531..22263842 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)