SCO2 (synthesis of cytochrome C oxidase 2)

2007-04-01  

Identity

HGNC
SCO2
LOCATION
22q13.33
LOCUSID
9997
ALIAS
CEMCOX1,ECGF1,Gliostatin,MC4DN2,MYP6,PD-ECGF,SCO1L,TP,TYMP,TdRPase
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9997
MIM: 604272
HGNC: 10604
Ensembl: ENSG00000284194

Variants:

dbSNP: 9997
ClinVar: 9997
TCGA: ENSG00000284194
COSMIC: SCO2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000284194ENST00000252785O43819
ENSG00000284194ENST00000395693O43819
ENSG00000284194ENST00000535425O43819
ENSG00000284194ENST00000543927O43819
ENSG00000284194ENST00000638598A0A1W2PQK0

Pathways

PathwaySourceExternal ID
Central carbon metabolism in cancerKEGGhsa05230
Central carbon metabolism in cancerKEGGko05230
Gene ExpressionREACTOMER-HSA-74160
Generic Transcription PathwayREACTOMER-HSA-212436
Transcriptional Regulation by TP53REACTOMER-HSA-3700989
TP53 Regulates Metabolic GenesREACTOMER-HSA-5628897
MetabolismREACTOMER-HSA-1430728
The citric acid (TCA) cycle and respiratory electron transportREACTOMER-HSA-1428517
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.REACTOMER-HSA-163200
Respiratory electron transportREACTOMER-HSA-611105

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
167285942006p53 regulates mitochondrial respiration.572
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
152291892004Human SCO1 and SCO2 have independent, cooperative functions in copper delivery to cytochrome c oxidase.66
171892032007The human cytochrome c oxidase assembly factors SCO1 and SCO2 have regulatory roles in the maintenance of cellular copper homeostasis.62
193364782009Human SCO2 is required for the synthesis of CO II and as a thiol-disulphide oxidoreductase for SCO1.59
160913562005Human Sco1 and Sco2 function as copper-binding proteins.55
218201502012Regulatory role of p53 in cancer metabolism via SCO2 and TIGAR in human breast cancer.42
160834272005Tissue-specific cytochrome c oxidase assembly defects due to mutations in SCO2 and SURF1.35
117516852001Cytochrome c oxidase deficiency due to mutations in SCO2, encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblasts.32
219257692012Mitochondrial DNA deletions cause the biochemical defect observed in Alzheimer's disease.32

Citation

Dessen P

SCO2 (synthesis of cytochrome C oxidase 2)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/46811/sco2