CYP26B1 (cytochrome P450 family 26 subfamily B member 1)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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56603 |
Gene nameGene Name - the full gene name approved by the HGNC.
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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.
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CYP26B1 |
SynonymsGene synonyms aliases
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CYP26A2, P450RAI-2, P450RAI2, RHFCA |
ChromosomeChromosome number
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2 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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2p13.2 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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.
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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 |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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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 |
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Sequence |
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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.
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Associated diseases
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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 |
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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 |
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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 |
Schizophrenia |
Schizophrenia |
rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 |
25056061, 26198764 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Arachnodactyly |
Arachnodactyly |
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Brachycephaly |
Brachycephaly |
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Mouth diseases |
Mouth Diseases |
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17682004 |
Occipital encephalocele |
Occipital Encephalocele |
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Oligodactyly |
Oligodactyly |
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Radiohumeral fusions with other skeletal and craniofacial anomalies |
RADIOHUMERAL FUSIONS WITH OTHER SKELETAL AND CRANIOFACIAL ANOMALIES |
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27410456, 22019272 |
Ramer ladda syndrome |
Ramer Ladda syndrome |
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