C2orf69 - chromosome 2 open reading frame 69 Gene

Also Known as COXPD53

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 205327

About C2orf69

Cytogenetic location: 2q33.1 Genomic coordinates (GRCh38): 2:199,911,293-199,928,273 (from NCBI)

This gene has 2 transcripts (splice variants), 196 orthologues and is associated with 1 phenotype. Ubiquitous expression in testis (RPKM 10.2), brain (RPKM 9.5) and 25 other tissues.

Summary

Involved in Oxidative Phosphorylation. Located in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]

C2orf69 Products (1)

mRNA Protein Name
NM_153689.6 NP_710156.3 mitochondrial protein C2orf69 precursor

Gene Ontology

  • Biological Process
  • Cellular Component
Biological Process GO Annotation Evidence Verweise Source
involved in oxidative phosphorylation IMP
IMP: Inferred from mutant phenotype
33945503 GOA
Cellular Component GO Annotation Evidence Verweise Source
located in mitochondrion IDA
IDA: Inferred from direct assay
33945503 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

C2orf69 Protein Structure

UPF0565

UPF0565: Uncharacterised protein family UPF0565 (54 - 361)

  • 0
  • 100
  • 200
  • 300
  • 385 a.a.
Protein Preferred Names Protein Names

mitochondrial protein C2orf69

  • UPF0565 protein C2orf69

C2orf69 Antibodies

Art. -Nr. Produktname Anwendung Reactivity
HY-P86260 C2orf69 Antibody (YA5952) WB Human

Related Diseases

Diseases Alias
Combined Oxidative Phosphorylation Deficiency 53

  • COXPD53

  • Global Developmental Delay, Progressive Microcephaly, Structural Brain Abnormalities, And Autoinflammation

  • Elbracht-Isikay Syndrome
Microcephaly

  • Microencephaly

  • Microcephalus

  • Microcephalic

  • Nanocephaly

  • Congenital Microcephaly

  • Brain Hypoplasia

  • Brain Nondevelopment

  • Cephalic Hypoplasia

  • Undeveloped Cerebrum

  • Undeveloped Brain

  • Micrencephalon

  • Micrencephaly
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Art. -Nr. Produktname
Wirkung
Reinheit
Rare Diseases
HY-RS01742 C2orf69 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta C2orf69 VGNC VGNC:84214
Rattus norvegicus C2orf69 RGD RGD:1306941
Mus musculus C2orf69 MGD MGI:1920717
Canis familiaris C2orf69 VGNC VGNC:49226
Bos taurus C2orf69 VGNC VGNC:52701
Others C2orf69 NCBI