C2orf69 - chromosome 2 open reading frame 69 Gene

Also Known as COXPD53

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子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 参考文献 由来
involved in oxidative phosphorylation IMP
IMP: Inferred from mutant phenotype
33945503 GOA
Cellular Component GO Annotation Evidence 参考文献 由来
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 抗体

製品番号 製品名 アプリケーション 反応性
HY-P86260 C2orf69 Antibody (YA5952) WB Human

関連疾患

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)
製品番号 製品名
製品効果
純度
Rare Diseases
HY-RS01742 C2orf69 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

生物種 Symbol 由来 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