C2orf69 chromosome 2 open reading frame 69 [Homo sapiens (human)] - Gene

Summary

Official Symbol: C2orf69provided by HGNC
Official Full Name: chromosome 2 open reading frame 69provided by HGNC
Primary source: HGNC:HGNC:26799
See related: Ensembl:ENSG00000178074 MIM:619219; AllianceGenome:HGNC:26799
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
Also known as: COXPD53
Summary: Involved in oxidative phosphorylation. Located in mitochondrion. Implicated in combined oxidative phosphorylation deficiency 53. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in testis (RPKM 10.2), brain (RPKM 9.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q33.1

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (199911293..199928273)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (200394882..200411904)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (200776016..200792996)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation.
Title: C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation.
Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy.
Title: Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy.

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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
Combined oxidative phosphorylation deficiency 53 MedGen: C5543631 OMIM: 619423 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Genome-wide association analysis identifies 13 new risk loci for schizophrenia. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

D2S1523E (e-PCR)
- UniSTS:150616

SHGC-31000 (e-PCR)
- UniSTS:72579

RH69327 (e-PCR)
- UniSTS:33453

RH45770 (e-PCR)
- UniSTS:69842

Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
involved_in oxidative phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in mitochondrial matrix	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	HTP more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: mitochondrial protein C2orf69

Names: UPF0565 protein C2orf69

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.