CYBRD1 (cytochrome b reductase 1)

2017-10-01  

Identity

HGNC
CYBRD1
LOCATION
2q31.1
LOCUSID
79901
ALIAS
CYB561A2,DCYTB,FRRS3
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 79901
MIM: 605745
HGNC: 20797
Ensembl: ENSG00000071967

Variants:

dbSNP: 79901
ClinVar: 79901
TCGA: ENSG00000071967
COSMIC: CYBRD1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000071967ENST00000321348Q53TN4
ENSG00000071967ENST00000375252Q53TN4
ENSG00000071967ENST00000409484Q53TN4
ENSG00000071967ENST00000445146C9JML1

Expression (GTEx)

0
50
100
150
200
250
300
350
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Mineral absorptionKEGGko04978
Mineral absorptionKEGGhsa04978
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Iron uptake and transportREACTOMER-HSA-917937

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
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
179751192008Association of gene variants with incident myocardial infarction in the Cardiovascular Health Study.65
170683372006Human erythrocyte membranes contain a cytochrome b561 that may be involved in extracellular ascorbate recycling.20
196738822009A novel association between a SNP in CYBRD1 and serum ferritin levels in a cohort study of HFE hereditary haemochromatosis.19
184928242008Duodenal cytochrome B expression stimulates iron uptake by human intestinal epithelial cells.16
190230992009Gene variants associated with ischemic stroke: the cardiovascular health study.16
181946612008Functional characterization of human duodenal cytochrome b (Cybrd1): Redox properties in relation to iron and ascorbate metabolism.13
227736072012CYBRD1 as a modifier gene that modulates iron phenotype in HFE p.C282Y homozygous patients.10
153382742004Analysis of genes implicated in iron regulation in individuals presenting with primary iron overload.9
153382742004Analysis of genes implicated in iron regulation in individuals presenting with primary iron overload.9
282702172017DCYTB is a predictor of outcome in breast cancer that functions via iron-independent mechanisms.8

Citation

Dessen P

CYBRD1 (cytochrome b reductase 1)

Atlas Genet Cytogenet Oncol Haematol. 2017-10-01

Online version: http://atlasgeneticsoncology.org/gene/57205/cybrd1