C2orf69 - chromosome 2 open reading frame 69 Gene

Homo sapiens

Also known as COXPD53

Gene ID: 205327 | Gene type: protein coding

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

C2orf69 Protein Structure

UPF0565

0
100
200
300
385 a.a.

Protein Preferred Names

Protein Names

mitochondrial protein C2orf69

UPF0565 protein C2orf69

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01742	C2orf69 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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