CYP26B1 (cytochrome P450 family 26 subfamily B member 1)

2011-10-01  

Identity

HGNC
CYP26B1
LOCATION
2p13.2
LOCUSID
56603
ALIAS
CYP26A2,P450RAI-2,P450RAI2,RHFCA

Other Information

Locus ID:

NCBI: 56603
MIM: 605207
HGNC: 20581
Ensembl: ENSG00000003137

Variants:

dbSNP: 56603
ClinVar: 56603
TCGA: ENSG00000003137
COSMIC: CYP26B1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000003137ENST00000001146Q9NR63
ENSG00000003137ENST00000412253E7ER08
ENSG00000003137ENST00000461519E5RHN4
ENSG00000003137ENST00000474509E5RHM2
ENSG00000003137ENST00000546307Q9NR63

Expression (GTEx)

0
10
20
30
40
50
60
70
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
Retinol metabolismKEGGko00830
Retinol metabolismKEGGhsa00830
Metabolic pathwaysKEGGhsa01100
Signal TransductionREACTOMER-HSA-162582
Signaling by Retinoic AcidREACTOMER-HSA-5362517
RA biosynthesis pathwayREACTOMER-HSA-5365859
MetabolismREACTOMER-HSA-1430728
Biological oxidationsREACTOMER-HSA-211859
Phase 1 - Functionalization of compoundsREACTOMER-HSA-211945
Cytochrome P450 - arranged by substrate typeREACTOMER-HSA-211897
VitaminsREACTOMER-HSA-211916

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
rectum
liver
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
165748202006Retinoid signaling determines germ cell fate in mice.255
220192722011Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid.59
220201192012Comparison of the function and expression of CYP26A1 and CYP26B1, the two retinoic acid hydroxylases.48
117443782002Differential expression of the retinoic acid-metabolizing enzymes CYP26A1 and CYP26B1 during murine organogenesis.45
293791982018Exome-wide analyses identify low-frequency variant in CYP26B1 and additional coding variants associated with esophageal squamous cell carcinoma.31
198842802010A comparison of the roles of peroxisome proliferator-activated receptor and retinoic acid receptor on CYP26 regulation.26
247268782014The enzyme Cyp26b1 mediates inhibition of mast cell activation by fibroblasts to maintain skin-barrier homeostasis.20
203759872010A human ALDH1A2 gene variant is associated with increased newborn kidney size and serum retinoic acid.14
238373982013Phenotypic and functional consequences of haploinsufficiency of genes from exocyst and retinoic acid pathway due to a recurrent microdeletion of 2p13.2.14
224150122012A CYP26B1 polymorphism enhances retinoic acid catabolism and may aggravate atherosclerosis.12

Citation

Dessen P

CYP26B1 (cytochrome P450 family 26 subfamily B member 1)

Atlas Genet Cytogenet Oncol Haematol. 2011-10-01

Online version: http://atlasgeneticsoncology.org/gene/52458/cyp26b1