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

Gene ID: 7385, updated on 10-Dec-2024

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
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Genomic context

See UQCRC2 in Genome Data Viewer
Location:
16p12.2
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (21953361..21983660)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (22233531..22263842, complement)
RS_2024_09 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
 
Component Evidence Code Pubs
located_in mitochondrial inner membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
located_in mitochondrion HDA PubMed 
located_in mitochondrion HTP PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
part_of respiratory chain complex III IDA
Inferred from Direct Assay
more info
PubMed 

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)

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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.

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_2024_08

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)