CYP26B1 (cytochrome P450 family 26 subfamily B member 1)

2011-10-01  

Identity

HGNC
LOCATION
2p13.2
LOCUSID
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

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

References

Pubmed IDYearTitleCitations
367693502023A Functional Polymorphism Downstream of Vitamin A Regulator Gene CYP26B1 Is Associated with Hand Osteoarthritis.0
370425682023A variant in CYP26B1 associated with esophageal squamous cell carcinoma risk by affecting retinoic acid metabolism.0
371002362023Familial monoallelic CYP26B1 truncating variant causes a syndromic craniosynostosis due to haploinsufficiency ?1
377554822023CYP26B1-related disorder: expanding the ends of the spectrum through clinical and molecular evidence.1
367693502023A Functional Polymorphism Downstream of Vitamin A Regulator Gene CYP26B1 Is Associated with Hand Osteoarthritis.0
370425682023A variant in CYP26B1 associated with esophageal squamous cell carcinoma risk by affecting retinoic acid metabolism.0
371002362023Familial monoallelic CYP26B1 truncating variant causes a syndromic craniosynostosis due to haploinsufficiency ?1
377554822023CYP26B1-related disorder: expanding the ends of the spectrum through clinical and molecular evidence.1
344704632021Polymorphisms in Vitamin A-Related Genes and Their Functions in Autoimmune Thyroid Disease.1
344704632021Polymorphisms in Vitamin A-Related Genes and Their Functions in Autoimmune Thyroid Disease.1
325211272020CYP26B1 and its implications in lymphangiogenesis: Literature review and study of rare variants in two families.1
325211272020CYP26B1 and its implications in lymphangiogenesis: Literature review and study of rare variants in two families.1
314195172019Biochemical and physiological importance of the CYP26 retinoic acid hydroxylases.47
314195172019Biochemical and physiological importance of the CYP26 retinoic acid hydroxylases.47
293791982018Exome-wide analyses identify low-frequency variant in CYP26B1 and additional coding variants associated with esophageal squamous cell carcinoma.47

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