Gene Gene information from NCBI Gene database.
Entrez ID 56603
Gene name Cytochrome P450 family 26 subfamily B member 1
Gene symbol CYP26B1
Synonyms (NCBI Gene)
CYP26A2P450RAI-2P450RAI2RHFCA
Chromosome 2
Chromosome location 2p13.2
Summary This gene encodes a member of the cytochrome P450 superfamily. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The encoded protein is locali
SNPs SNP information provided by dbSNP.
3
SNP ID Visualize variation Clinical significance Consequence
rs281875231 C>A,T Likely-pathogenic, pathogenic, not-provided Coding sequence variant, missense variant
rs281875232 A>G Pathogenic, not-provided Coding sequence variant, 5 prime UTR variant, missense variant
rs756077143 C>T Likely-pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
1184
miRTarBase ID miRNA Experiments Reference
MIRT027171 hsa-miR-103a-3p Sequencing 20371350
MIRT031931 hsa-miR-16-5p Sequencing 20371350
MIRT558512 hsa-miR-497-5p PAR-CLIP 20371350
MIRT558511 hsa-miR-15a-5p PAR-CLIP 20371350
MIRT558510 hsa-miR-15b-5p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
56
GO ID Ontology Definition Evidence Reference
GO:0001709 Process Cell fate determination IEA
GO:0001709 Process Cell fate determination ISS
GO:0001768 Process Establishment of T cell polarity IEA
GO:0001822 Process Kidney development IEA
GO:0001972 Function Retinoic acid binding IDA 10823918
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605207 20581 ENSG00000003137
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NR63
Protein name Cytochrome P450 26B1 (EC 1.14.13.-) (Cytochrome P450 26A2) (Cytochrome P450 retinoic acid-inactivating 2) (Cytochrome P450RAI-2) (Retinoic acid-metabolizing cytochrome)
Protein function A cytochrome P450 monooxygenase involved in the metabolism of retinoates (RAs), the active metabolites of vitamin A, and critical signaling molecules in animals (PubMed:10823918, PubMed:22020119). RAs exist as at least four different isomers: al
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00067 p450 50 490 Cytochrome P450 Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in brain, particularly in the cerebellum and pons. {ECO:0000269|PubMed:10823918}.
Sequence
Sequence length 512
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Retinol metabolism
Metabolic pathways
  Vitamins
RA biosynthesis pathway
Defective CYP26B1 causes Radiohumeral fusions with other skeletal and craniofacial anomalies (RHFCA)
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
22
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Lethal occipital encephalocele-skeletal dysplasia syndrome Likely pathogenic; Pathogenic rs1677161997, rs281875231, rs281875232, rs756077143 RCV002508181
RCV000023400
RCV000023401
RCV005034039
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Craniosynostosis syndrome Uncertain significance rs1341772264, rs771651519 RCV000984629
RCV000985271
CYP26B1-related disorder Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance rs149453254, rs143622603, rs758323100, rs142707455, rs7568553, rs142056257, rs76025186, rs142156843, rs775239122 RCV003931217
RCV003963375
RCV003963935
RCV003971942
RCV004758031
RCV003943078
RCV003950405
RCV003910628
RCV003910793
EBV-positive nodal T- and NK-cell lymphoma Likely benign rs2466204285 RCV004560218
Melanoma Benign rs139076534 RCV005907816
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alopecia Associate 31525235
Arachnodactyly Associate 37755482
Bardet Biedl Syndrome 9 Associate 32789750
Congenital Microtia Associate 33811463
Craniosynostoses Associate 37755482
Crohn Disease Associate 23977348
Delayed Cranial Ossification due to CBFB Haploinsufficiency Associate 23837398
Encephalocele Associate 37755482
Hearing Loss Associate 37755482
Hearing Loss Conductive Associate 37755482