Gene Gene information from NCBI Gene database.
Entrez ID 205327
Gene name Chromosome 2 open reading frame 69
Gene symbol C2orf69
Synonyms (NCBI Gene)
COXPD53
Chromosome 2
Chromosome location 2q33.1
miRNA miRNA information provided by mirtarbase database.
423
miRTarBase ID miRNA Experiments Reference
MIRT050433 hsa-miR-23a-3p CLASH 23622248
MIRT047301 hsa-miR-181b-5p CLASH 23622248
MIRT052656 hsa-miR-449c-3p CLASH 23622248
MIRT156701 hsa-miR-130a-5p PAR-CLIP 21572407
MIRT050433 hsa-miR-23a-3p PAR-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
6
GO ID Ontology Definition Evidence Reference
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IBA
GO:0005739 Component Mitochondrion IDA 33945503
GO:0005739 Component Mitochondrion IEA
GO:0005759 Component Mitochondrial matrix IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
619219 26799 ENSG00000178074
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8N8R5
Protein name Mitochondrial protein C2orf69
Protein function May play a role in the respiratory chain.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10561 UPF0565 56 361 Uncharacterised protein family UPF0565 Family
Sequence
Sequence length 385
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Combined oxidative phosphorylation deficiency 53 Pathogenic; Likely pathogenic rs2106636543, rs2106636277, rs1277326765, rs2106636278, rs2106636544, rs2106636545, rs2469464326, rs2077262520 RCV001533284
RCV001533285
RCV001533286
RCV001533287
RCV001533288
View all (3 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
C2orf69-related disorder Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations