• Gene id: 56603

Gene Summary

• Gene Symbol: CYP26B1   Gene   UCSC   Ensembl
• Aliases: CYP26A2, P450RAI-2, P450RAI2, RHFCA
• Gene name: cytochrome P450 family 26 subfamily B member 1
• Alternate names: cytochrome P450 26B1, cytochrome P450 family 26 subfamily A member 1, cytochrome P450 retinoic acid-inactivating 2, cytochrome P450 retinoid metabolizing protein, cytochrome P450, family 26, subfamily B, polypeptide 1, cytochrome P450, subfamily XXVIB, po,
• Gene location: 2p13.2 (72147861: 72129237)     Exons: 8     NC_000002.12
• Gene summary(Entrez): 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
• OMIM: 605207

SNPs

rs2241057

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.72134831A>G
NC_000002.11   g.72361960A>G
NG_007957.1   g.18004T>C
NM_019885.3   c.791T>C
NM_001277742.1   c.566T>C
XM_005264433.4   c.617T>C
XM_005264433.1   c.617T>C
XM_011532988.1   c.218T>C
NP_063938.1   p.Leu264Ser
NP_001264671.1   p.Leu189Ser
XP_00  

rs707718

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.72129320G>C
NC_000002.12   g.72129320G>T
NC_000002.11   g.72356449G>C
NC_000002.11   g.72356449G>T
NG_007957.1   g.23515C>G
NG_007957.1   g.23515C>A
NM_019885.3   c.*2907C>G
NM_019885.3   c.*2907C>A
NM_001277742.1   c.*2907C>G
NM_001277742.1   c.*2907C>

Protein Summary

• Protein general information: Q9NR63  
  • Name: Cytochrome P450 26B1 (EC 1.14.13. ) (Cytochrome P450 26A2) (Cytochrome P450 retinoic acid inactivating 2) (Cytochrome P450RAI 2) (Retinoic acid metabolizing cytochrome)
  • Length: 512  
  • Mass: 57,513
• Sequence:

  MLFEGLDLVSALATLAACLVSVTLLLAVSQQLWQLRWAATRDKSCKLPIPKGSMGFPLIGETGHWLLQGSGFQSS
  RREKYGNVFKTHLLGRPLIRVTGAENVRKILMGEHHLVSTEWPRSTRMLLGPNTVSNSIGDIHRNKRKVFSKIFS
  HEALESYLPKIQLVIQDTLRAWSSHPEAINVYQEAQKLTFRMAIRVLLGFSIPEEDLGHLFEVYQQFVDNVFSLP
  VDLPFSGYRRGIQARQILQKGLEKAIREKLQCTQGKDYLDALDLLIESSKEHGKEMTMQELKDGTLELIFAAYAT
  TASASTSLIMQLLKHPTVLEKLRDELRAHGILHSGGCPCEGTLRLDTLSGLRYLDCVIKEVMRLFTPISGGYRTV
  LQTFELDGFQIPKGWSVMYSIRDTHDTAPVFKDVNVFDPDRFSQARSEDKDGRFHYLPFGGGVRTCLGKHLAKLF
  LKVLAVELASTSRFELATRTFPRITLVPVLHPVDGLSVKFFGLDSNQNEILPETEAMLSATV

• Structural information:
  • Interpro: IPR001128  IPR017972  IPR002403  IPR036396  
  • Prosite: PS00086
  • STRING: ENSP00000001146
• Other Databases: GeneCards:  CYP26B1  Malacards:  CYP26B1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001709	cell fate determination	ISS	biological process
GO:0001768	establishment of T cell polarity	IEA	biological process
GO:0001972	retinoic acid binding	IDA	molecular function
GO:0005506	iron ion binding	IEA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0006766	vitamin metabolic process	TAS	biological process
GO:0006954	inflammatory response	IEA	biological process
GO:0007140	male meiosis	ISS	biological process
GO:0007283	spermatogenesis	ISS	biological process
GO:0008401	retinoic acid 4-hydroxylase activity	IDA	molecular function
GO:0008401	retinoic acid 4-hydroxylase activity	TAS	molecular function
GO:0008401	retinoic acid 4-hydroxylase activity	TAS	molecular function
GO:0009954	proximal/distal pattern formation	ISS	biological process
GO:0010628	positive regulation of gene expression	IEA	biological process
GO:0020037	heme binding	NAS	molecular function
GO:0030326	embryonic limb morphogenesis	ISS	biological process
GO:0034653	retinoic acid catabolic process	IDA	biological process
GO:0043587	tongue morphogenesis	IEA	biological process
GO:0045580	regulation of T cell differentiation	IEA	biological process
GO:0048384	retinoic acid receptor signaling pathway	IEA	biological process
GO:0048387	negative regulation of retinoic acid receptor signaling pathway	TAS	biological process
GO:0055114	oxidation-reduction process	IDA	biological process
GO:0060349	bone morphogenesis	IMP	biological process
GO:0061436	establishment of skin barrier	IEA	biological process
GO:0070268	cornification	IEA	biological process
GO:0071300	cellular response to retinoic acid	IEA	biological process
GO:2001037	positive regulation of tongue muscle cell differentiation	IEA	biological process
GO:0001709	cell fate determination	IEA	biological process
GO:0001709	cell fate determination	ISS	biological process
GO:0001768	establishment of T cell polarity	IEA	biological process
GO:0001972	retinoic acid binding	IDA	molecular function
GO:0004497	monooxygenase activity	IEA	molecular function
GO:0004497	monooxygenase activity	IEA	molecular function
GO:0005506	iron ion binding	IEA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0006766	vitamin metabolic process	TAS	biological process
GO:0006954	inflammatory response	IEA	biological process
GO:0007140	male meiosis	IEA	biological process
GO:0007140	male meiosis	ISS	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0007283	spermatogenesis	ISS	biological process
GO:0008401	retinoic acid 4-hydroxylase activity	IEA	molecular function
GO:0008401	retinoic acid 4-hydroxylase activity	IDA	molecular function
GO:0008401	retinoic acid 4-hydroxylase activity	TAS	molecular function
GO:0008401	retinoic acid 4-hydroxylase activity	TAS	molecular function
GO:0009954	proximal/distal pattern formation	IEA	biological process
GO:0009954	proximal/distal pattern formation	ISS	biological process
GO:0010628	positive regulation of gene expression	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016705	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	IEA	molecular function
GO:0020037	heme binding	IEA	molecular function
GO:0020037	heme binding	NAS	molecular function
GO:0030326	embryonic limb morphogenesis	IEA	biological process
GO:0030326	embryonic limb morphogenesis	ISS	biological process
GO:0031090	organelle membrane	IEA	cellular component
GO:0034653	retinoic acid catabolic process	IEA	biological process
GO:0034653	retinoic acid catabolic process	IDA	biological process
GO:0042573	retinoic acid metabolic process	IEA	biological process
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0043587	tongue morphogenesis	IEA	biological process
GO:0045580	regulation of T cell differentiation	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0048384	retinoic acid receptor signaling pathway	IEA	biological process
GO:0048385	regulation of retinoic acid receptor signaling pathway	IEA	biological process
GO:0048387	negative regulation of retinoic acid receptor signaling pathway	IEA	biological process
GO:0048387	negative regulation of retinoic acid receptor signaling pathway	TAS	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0055114	oxidation-reduction process	IDA	biological process
GO:0060349	bone morphogenesis	IMP	biological process
GO:0061436	establishment of skin barrier	IEA	biological process
GO:0070268	cornification	IEA	biological process
GO:0071300	cellular response to retinoic acid	IEA	biological process
GO:2001037	positive regulation of tongue muscle cell differentiation	IEA	biological process
GO:0001709	cell fate determination	ISS	biological process
GO:0001972	retinoic acid binding	IDA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0006766	vitamin metabolic process	TAS	biological process
GO:0007140	male meiosis	ISS	biological process
GO:0007283	spermatogenesis	ISS	biological process
GO:0008401	retinoic acid 4-hydroxylase activity	IDA	molecular function
GO:0008401	retinoic acid 4-hydroxylase activity	TAS	molecular function
GO:0008401	retinoic acid 4-hydroxylase activity	TAS	molecular function
GO:0009954	proximal/distal pattern formation	ISS	biological process
GO:0020037	heme binding	NAS	molecular function
GO:0030326	embryonic limb morphogenesis	ISS	biological process
GO:0034653	retinoic acid catabolic process	IDA	biological process
GO:0048387	negative regulation of retinoic acid receptor signaling pathway	TAS	biological process
GO:0055114	oxidation-reduction process	IDA	biological process
GO:0060349	bone morphogenesis	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways

Diseases

Associated diseases	References
Neural tube defects	GAD: 16237707
Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies	OMIM: 605207
Schizophrenia	GAD: 19703508
Kidney diseases	GAD: 20375987
Spermatogenesis defects	MIK: 23320086
Azoospermia	MIK: 23320086
Oligozoospermia	MIK: 23320086
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 23320086
Azoospermia	MIK: 23320086
Oligozoospermia	MIK: 23320086
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
23320086	Spermatogenic impairment, azoospermia, oligozoospermia	Cyp26b1 (rs2241057, rs707718), Nanos2 (rs1422627, rs9304651, rs2015728), Stra8 (rs10269148, rs17168319, rs17168337)	Han Chi nese	1102 (719 idiopathic infertile cases (201 azoospermia patients (no sperm in the ejaculate even after centrifugation), 155 oligozoospermia patients (sperm counts <20×10(6)/ml) and 363 infertility/normozoospermia subjects (sperm counts >20×10(6)/ml)), 383 c	Male infertility	CYP26B1 NANOS1 and STRA8
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq