UQCC2 ubiquinol-cytochrome c reductase complex assembly factor 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: UQCC2provided by HGNC
Official Full Name: ubiquinol-cytochrome c reductase complex assembly factor 2provided by HGNC
Primary source: HGNC:HGNC:21237
See related: Ensembl:ENSG00000137288 MIM:614461; AllianceGenome:HGNC:21237
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: M19; Cbp6; MNF1; MC3DN7; C6orf125; C6orf126; bA6B20.2
Summary: This gene encodes a nucleoid protein localized to the mitochondria inner membrane. The encoded protein affects regulation of insulin secretion, mitochondrial ATP production, and myogenesis through modulation of mitochondrial respiratory chain activity. [provided by RefSeq, Oct 2012]
Expression: Ubiquitous expression in heart (RPKM 18.8), testis (RPKM 14.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6p21.31

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (33696764..33711700, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (33517949..33532883, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (33664541..33679477, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

UQCC3 is reduced in cells depleted for the complex III assembly factors UQCC1 and UQCC2. Conversely, absence of UQCC3 in patient cells does not affect UQCC1 and UQCC2.
Title: A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stability.
This work provides insight into human complex III assembly by establishing that UQCC1 and UQCC2 are complex III assembly factors participating in cytochrome b biogenesis.
Title: Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression.
The function of M19, a novel mitochondrial nucleoid protein, is characterized in muscle and pancreatic beta-cells.
Title: M19 modulates skeletal muscle differentiation and insulin secretion in pancreatic β-cells through modulation of respiratory chain activity.
Strong candidate gene for mitochondrial disease, based on recessive mutations detected in infantile patients
Title: Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.
M19 associates with the nucleoid and likely regulates the organization and metabolism of mtDNA.
Title: Association of a novel mitochondrial protein M19 with mitochondrial nucleoids.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Mitochondrial complex III deficiency nuclear type 7 MedGen: C4014408 OMIM: 615824 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AI790199 (e-PCR)
- UniSTS:165662

RH93741 (e-PCR)
- UniSTS:89386

D6S1191E (e-PCR)
- UniSTS:151094

RH46652 (e-PCR)
- UniSTS:24412

STS-U01062 (e-PCR)
- UniSTS:72299

D6S2048 (e-PCR)
- UniSTS:65395

RH36260 (e-PCR)
- UniSTS:34442

ITPR3_1317 (e-PCR)
- UniSTS:277395

ITPR3_v399 (e-PCR)
- UniSTS:277395

G43195 (e-PCR)
- UniSTS:94894

RH46603 (e-PCR)
- UniSTS:51379

STS-H94315 (e-PCR)
- UniSTS:66745

WI-22215 (e-PCR)
- UniSTS:73212

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in mitochondrial respiratory chain complex III assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitochondrial respiratory chain complex III assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of mitochondrial translation	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of insulin secretion	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of oxidative phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of skeletal muscle cell differentiation	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in mitochondrial inner membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in mitochondrial intermembrane space	ISS Inferred from Sequence or Structural Similarity more info
is_active_in mitochondrial matrix	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrial matrix	ISS Inferred from Sequence or Structural Similarity more info
located_in mitochondrial nucleoid	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	HTP more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear body	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: ubiquinol-cytochrome c reductase complex assembly factor 2

Names: breast cancer-associated protein SGA-81M; cytochrome B protein synthesis 6 homolog; mitochondrial nucleoid factor 1; mitochondrial protein M19

NP_115716.1

EC 2.7.4.21

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.