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CYP26B1 (cytochrome P450 family 26 subfamily B member 1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
56603
Gene nameGene Name - the full gene name approved by the HGNC.
Cytochrome P450 family 26 subfamily B member 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
CYP26B1
SynonymsGene synonyms aliases
CYP26A2, P450RAI-2, P450RAI2, RHFCA
ChromosomeChromosome number
2
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p13.2
SummarySummary of gene provided in NCBI Entrez Gene.
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
SNPsSNP information provided by dbSNP.
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
miRNAmiRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
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
GO:0004497 Function Monooxygenase activity IBA 21873635
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID 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
Sequence
Sequence length 512
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
Reactome
  Retinol metabolism
Metabolic pathways
  Vitamins
RA biosynthesis pathway
Defective CYP26B1 causes Radiohumeral fusions with other skeletal and craniofacial anomalies (RHFCA)
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Craniosynostosis Craniosynostosis rs104893895, rs587777006, rs587777007, rs587777008, rs587777010, rs281865153, rs281865154, rs864321680, rs864321681, rs1057517670, rs1085307122, rs1064794325, rs1884302, rs1555750816, rs1599823350
Esophagus neoplasm Squamous cell carcinoma of esophagus rs28934578, rs121918714, rs1567556006, rs1575166666 29379198
Lethal occipital encephalocele-skeletal dysplasia syndrome Lethal occipital encephalocele-skeletal dysplasia syndrome rs281875231, rs281875232, rs756077143
Obesity Obesity rs34911341, rs74315349, rs1474810899, rs2282440, rs2491132, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs74315393, rs121913556, rs2989924, rs193922650, rs193922685, rs193922687, rs751160202, rs1421085, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829, rs6548238, rs7138803, rs7754840 20882379
Unknown
Disease name Disease term dbSNP ID References
Arachnodactyly Arachnodactyly
Brachycephaly Brachycephaly
Mouth diseases Mouth Diseases 17682004
Occipital encephalocele Occipital Encephalocele

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