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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CYP26B1 Gene

protein-coding   GIFtS: 59
GCID: GC02M072268

Cytochrome P450, Family 26, Subfamily B, Polypeptide 1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Cytochrome P450, Family 26, Subfamily B, Polypeptide 11 2     Cytochrome P450 26B12
Cytochrome P450 Retinoic Acid-Inactivating 22 3     Cytochrome P450 Retinoid Metabolizing Protein2
Retinoic Acid-Metabolizing Cytochrome2 3     Cytochrome P450, Subfamily XXVIB, Polypeptide 12
CYP26A22 3     EC 1.14.-.-3
P450RAI22 3     Cytochrome P450 26A23
P450RAI-22     Cytochrome P450RAI-23
RHFCA2     

External Ids:    HGNC: 205811   Entrez Gene: 566032   Ensembl: ENSG000000031377   OMIM: 6052075   UniProtKB: Q9NR633   

Export aliases for CYP26B1 gene to outside databases

Previous GC identifers: GC02M072330 GC02M072209 GC02M072092


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CYP26B1 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 localized to the endoplasmic reticulum, and functions as a critical regulator of
all-trans retinoic acid levels by the specific inactivation of all-trans retinoic acid to hydroxylated forms.
Mutations in this gene are associated with radiohumeral fusions and other skeletal and craniofacial anomalies,
and increased levels of the encoded protein are associated with atherosclerotic lesions. Alternative splicing
results in multiple transcript variants. (provided by RefSeq, Apr 2013)

GeneCards Summary for CYP26B1 Gene: 
CYP26B1 (cytochrome P450, family 26, subfamily B, polypeptide 1) is a protein-coding gene. Diseases associated with CYP26B1 include hypervitaminosis a, and cytochrome p450, and among its related super-pathways are Cytochrome P450 - arranged by substrate type and Phase II conjugation. GO annotations related to this gene include electron carrier activity and heme binding. An important paralog of this gene is CYP51A1.

UniProtKB/Swiss-Prot: CP26B_HUMAN, Q9NR63
Function: Involved in the metabolism of retinoic acid (RA), rendering this classical morphogen inactive through
oxidation. Involved in the specific inactivation of all-trans-retinoic acid (all-trans-RA), with a preference for
the following substrates: all-trans-RA > 9-cis-RA > 13-cis-RA. Generates several hydroxylated forms of RA,
including 4-OH-RA, 4-oxo-RA, and 18-OH-RA. Esential for postnatal survival. Plays a central role in germ cell
development: acts by degrading RA in the developing testis, preventing STRA8 expression, thereby leading to delay
of meiosis. Required for the maintenance of the undifferentiated state of male germ cells during embryonic
development in Sertoli cells, inducing arrest in G0 phase of the cell cycle and preventing meiotic entry. Plays a
role in skeletal development, both at the level of patterning and in the ossification of bone and the
establishment of some synovial joints

summary for CYP26B1 Gene:
Cytochrome P450 (CYP450) enzymes are a diverse group of catalysts that contains 57 members in humans. CYPs
are usually membrane-bound and are localized to the inner mitochondrial or endoplasmic reticular membrane.
CYPs have oxygenase activity and commonly catalyze redox reactions, involving the oxidation of the substrate
and reduction of water. This group of enzymes contain a heme ion within the active site, which is essential
for catalytic activity. CYPs have been found in all organisms tested and are ubiquitously expressed. They
are found at high levels in the liver, where they have an important role in metabolism of drugs and
endogenous toxic compounds (for example bilirubin). Most CYPs can metabolize numerous substrates and this
accounts for their major role in drug interactions. CYPs also have functions in steroid hormone synthesis,
cholesterol synthesis and vitamin D metabolism.

Gene Wiki entry for CYP26B1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NT_022184.15  NC_018913.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CYP26B1 gene promoter:
         E2F-4   E2F-3a   E2F-5   Pax-5   MEF-2   E2F-2   E2F   E2F-1   aMEF-2   ZIC2/Zic2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): CYP26B1 promoter sequence
   Search SABiosciences Chromatin IP Primers for CYP26B1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CYP26B1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2p13.2   Ensembl cytogenetic band:  2p13.2   HGNC cytogenetic band: 2p12

CYP26B1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CYP26B1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M072268:  view genomic region     (about GC identifiers)

Start:
72,356,367 bp from pter      End:
72,375,167 bp from pter
Size:
18,801 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CP26B_HUMAN, Q9NR63 (See protein sequence)
Recommended Name: Cytochrome P450 26B1  
Size: 512 amino acids; 57513 Da
Cofactor: Heme group (By similarity)
Subcellular location: Endoplasmic reticulum membrane; Peripheral membrane protein (By similarity). Microsome
membrane; Peripheral membrane protein (By similarity)
Sequence caution: Sequence=BAH12154.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: B2R8M7 B7Z2K6 B7Z2P4 B7Z3B8 E4W5W7 Q32MC0 Q53TW1 Q9NP41
Alternative splicing: 3 isoforms:  Q9NR63-1   Q9NR63-2   Q9NR63-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CYP26B1: NX_Q9NR63

Explore proteomics data for CYP26B1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9NR63

  • CYP26B1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CYP26B1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001264671.1  NP_063938.1  

    ENSEMBL proteins: 
     ENSP00000001146   ENSP00000401465   ENSP00000430888   ENSP00000430871   ENSP00000443304  
    Reactome Protein details: Q9NR63
    Human Recombinant Protein Products for CYP26B1: 
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    Cloud-Clone Corp. Proteins for CYP26B1 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum NAS--
    GO:0005789endoplasmic reticulum membrane TAS--

    CYP26B1 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. ELISAs for CYP26B1 
    Cloud-Clone Corp. CLIAs for CYP26B1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    CYP: Cytochrome P450s

    IUPHAR Guide to PHARMACOLOGY protein family classification: CYP26B1 
    CYP24, CYP26 and CYP27 families

    3 InterPro protein domains:
     IPR001128 Cyt_P450
     IPR017972 Cyt_P450_CS
     IPR002403 Cyt_P450_E_grp-IV

    Graphical View of Domain Structure for InterPro Entry Q9NR63

    ProtoNet protein and cluster: Q9NR63

    1 Blocks protein domain: IPB002403 E-class P450 group IV signature

    UniProtKB/Swiss-Prot: CP26B_HUMAN, Q9NR63
    Similarity: Belongs to the cytochrome P450 family


    CYP26B1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CP26B_HUMAN, Q9NR63
    Function: Involved in the metabolism of retinoic acid (RA), rendering this classical morphogen inactive through
    oxidation. Involved in the specific inactivation of all-trans-retinoic acid (all-trans-RA), with a preference for
    the following substrates: all-trans-RA > 9-cis-RA > 13-cis-RA. Generates several hydroxylated forms of RA,
    including 4-OH-RA, 4-oxo-RA, and 18-OH-RA. Esential for postnatal survival. Plays a central role in germ cell
    development: acts by degrading RA in the developing testis, preventing STRA8 expression, thereby leading to delay
    of meiosis. Required for the maintenance of the undifferentiated state of male germ cells during embryonic
    development in Sertoli cells, inducing arrest in G0 phase of the cell cycle and preventing meiotic entry. Plays a
    role in skeletal development, both at the level of patterning and in the ossification of bone and the
    establishment of some synovial joints
    Induction: By retinoic acid

         Enzyme Number (IUBMB): EC 1.14.-.-1

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001972retinoic acid binding IDA10823918
    GO:0005506iron ion binding IEA--
    GO:0008401retinoic acid 4-hydroxylase activity IDA10823918
    GO:0009055electron carrier activity IEA--
    GO:0016705oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen ----
         
    CYP26B1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for CYP26B1:
     Decreased Salmonella enterica   Increased gamma-H2AX phosphory 

         12 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Cyp26b1):
     cellular  craniofacial  embryogenesis  endocrine/exocrine gland  homeostasis/metabolism 
     integument  limbs/digits/tail  mortality/aging  reproductive system  respiratory system 
     skeleton  vision/eye 

    CYP26B1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for CYP26B1: Cyp26b1tm1.1Ptk Cyp26b1tm1Hh

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CYP26B1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CYP26B1 About   (see all 7)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Cytochrome P450 - arranged by substrate type
    Cytochrome P450 - arranged by substrate type0.75
    Phase 1 - Functionalization of compounds0.74
    cytochrome P4500.75
    2Biological oxidations
    Biological oxidations0.55
    metapathway biotransformation0.41
    3Metabolism
    Metabolism0.40
    4Drug metabolism - cytochrome P450
    Retinol metabolism0.39
    5Vitamin D2 (ergocalciferol) metabolism
    Vitamins0.33

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4 BioSystems Pathways for CYP26B1
        Vitamin A and carotenoid metabolism
    cytochrome P450
    Adipogenesis
    metapathway biotransformation

    5        Reactome Pathways for CYP26B1
        Cytochrome P450 - arranged by substrate type
    Metabolism
    Biological oxidations
    Phase 1 - Functionalization of compounds
    Vitamins


    1         Kegg Pathway  (Kegg details for CYP26B1):
        Retinol metabolism


    CYP26B1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CYP26B1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/36 Interacting proteins for CYP26B1 (ENSP000000011464) via UniProtKB, MINT, STRING, and/or I2D (see all 36)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ALDH1A1ENSP000002977854STRING: ENSP00000297785
    ALDH1A2ENSP000002497504STRING: ENSP00000249750
    CYP1A1ENSP000003690504STRING: ENSP00000369050
    CYP1A2ENSP000003420074STRING: ENSP00000342007
    CYP2A13ENSP000003326794STRING: ENSP00000332679
    About this table

    Gene Ontology (GO): 5/18 biological process terms (GO ID links to tree view) (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001709cell fate determination ISS--
    GO:0006766vitamin metabolic process TAS--
    GO:0006805xenobiotic metabolic process TAS--
    GO:0007140male meiosis ISS--
    GO:0007283spermatogenesis ISS--

    CYP26B1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for CYP26B1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    PF 4981517Selective CYP3A4 inhibitor[1390637-82-7]
    MethoxyresorufinFluorometric CYP450 substrate[5725-89-3]
    Letrozole Potent, reversible non-steroidal aromatase inhibitor [112809-51-5]
    ExemestaneSteroidal aromatase (CYP19) inhibitor[107868-30-4]
    PentoxyresorufinFluorometric cytochrome P450 substrate[87687-03-4]

    1 HMDB Compound for CYP26B1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Heme(protoporphyrinato)iron (see all 19)14875-96-8--

    Search CenterWatch for drugs/clinical trials and news about CYP26B1 / CP26B

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CYP26B1 gene (2 alternative transcripts): 
    NM_001277742.1  NM_019885.3  

    Unigene Cluster for CYP26B1:

    Cytochrome P450, family 26, subfamily B, polypeptide 1
    Hs.91546  [show with all ESTs]
    Unigene Representative Sequence: NM_019885
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000001146(uc010yra.1 uc002sih.1 uc010yrb.1) ENST00000412253
    ENST00000474509 ENST00000461519 ENST00000546307
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    Additional mRNA sequence: 

    AF252297.1 AK294814.1 AK294933.1 AK295683.1 AK313433.1 BC069443.1 BC109205.2 CR749631.1 
    FJ467289.1 

    2 DOTS entries:

    DT.211958  DT.120952726 

    24/44 AceView cDNA sequences (see all 44):

    BU616294 BU615820 NM_019885 AF252297 BC069443 AW614097 BX476023 CD629781 
    BG678586 BM703810 AA170825 F08840 CR749631 AA170805 AA012834 BU567665 
    AA988198 BI670463 CB265612 F13415 R49069 AA323962 N27888 R37774 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CYP26B1 expression in normal human tissues (normalized intensities)      CYP26B1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AATGTTGTGC
    CYP26B1 Expression
    About this image


    CYP26B1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/31 selected tissues (see all 31) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 9 entries
             Membranous Facial Bones
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
             sensory organ/ear/inner ear   
     
     Brain (Nervous System)    fully expand to see all 8 entries
             Cerebral Cortex
             brain/midbrain   
     
     Cartilage (Muscoskeletal System)    fully expand to see all 6 entries
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
     
     Testis (Reproductive System)    fully expand to see all 5 entries
             Sertoli cells Seminiferous Tubules
             Testis Interstitium
     
     Dermis (Integumentary System)    fully expand to see all 4 entries
             Zigzag Dermal Papilla Cells Dermal Papilla
             Human Dermal Fibroblasts-fetal (HDF-f)   

    See CYP26B1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CYP26B1

    SOURCE GeneReport for Unigene cluster: Hs.91546

    UniProtKB/Swiss-Prot: CP26B_HUMAN, Q9NR63
    Tissue specificity: Highly expressed in brain, particularly in the cerebellum and pons

        SABiosciences Expression via Pathway-Focused PCR Arrays including CYP26B1: 
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              Drug Metabolism: Phase I Enzymes in human mouse rat

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for CYP26B1 gene from 7/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cyp26b11 , 5 cytochrome P450, family 26, subfamily b, polypeptide more1, 5 89(n)1
    96.29(a)1
      6 (36.45 cM)5
    2321741  NM_001177713.11  NP_001171184.11 
     845714145 
    chicken
    (Gallus gallus)
    Aves CYP26B11 cytochrome P450, family 26, subfamily B, polypeptide more 82.85(n)
    86.21(a)
      428809  XM_426366.3  XP_426366.3 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.129742 Transcribed sequence with weak similarity to protein more 72.21(n)    BX722807.1 
    zebrafish
    (Danio rerio)
    Actinopterygii cyp26b11 cytochrome P450, family 26, subfamily b, polypeptide more 72.02(n)
    75.15(a)
      324188  NM_212666.1  NP_997831.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Cyp313a46
    Cyp313b16
    (see all 7)
    Cyp313b1
    (see all 7)
    19(a)
    19(a)
    (see all 7)
    many ↔ many
    many ↔ many
    (see all 7)
    3R(8505001-8507097)
    3R(4468782-4471179)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ERG116
    Lanosterol 14-alpha-demethylase; catalyzes the C-1...
    19(a)
    1 → many
    VIII(120091-121683)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons CYP707A31 abscisic acid 8'-hydroxylase 3 41(n)
    33.26(a)
      834570  NM_180805.3  NP_851136.1 


    ENSEMBL Gene Tree for CYP26B1 (if available)
    TreeFam Gene Tree for CYP26B1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CYP26B1 gene
    CYP51A12  CYP26A12  CYP26C12  CYP46A12  
    6 SIMAP similar genes for CYP26B1 using alignment to 4 protein entries:     CP26B_HUMAN (see all proteins):
    DKFZp686G0638    FLJ00329    CYP26C1    CYP26A1    CYP2E1    CYP3A43

    CYP26B1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/477 SNPs in CYP26B1 are shown (see all 477)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0387254
    ----see VAR_0387252 D N mis40--------
    VAR_0387224
    ----see VAR_0387222 V M mis40--------
    VAR_0387234
    ----see VAR_0387232 A V mis40--------
    rs1156915591,2
    --72112789(+) GAGTAA/CATAAA 2 -- us2k10--------
    rs1860544861,2
    --72113062(+) GCAACC/TCCGAC 2 -- us2k10--------
    rs285033721,2
    C,F--72113149(+) CTCTCG/ACACTC 2 -- us2k16Minor allele frequency- A:0.49WA NA CSA 127
    rs1419702341,2
    --72355993(+) GCCACA/GTGACT 3 -- ds50010--------
    rs1502423331,2
    --72356141(+) CTGACC/TGGTTC 3 -- ds50010--------
    rs1876097751,2
    --72356168(+) GGGAAA/CCTCCT 3 -- ds50010--------
    rs46006901,2
    C,F--72356180(+) CTCCCA/GGGACT 3 -- ds50011Minor allele frequency- G:0.07WA 118

    HapMap Linkage Disequilibrium report for CYP26B1 (72356367 - 72375167 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for CYP26B1: --

    Human Gene Mutation Database (HGMD): CYP26B1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing CYP26B1
    DNA2.0 Custom Variant and Variant Library Synthesis for CYP26B1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 605207    OMIM disorders: --

    UniProtKB/Swiss-Prot: CP26B_HUMAN, Q9NR63
  • Radiohumeral fusions with other skeletal and craniofacial anomalies (RHFCA) [MIM:614416]: A disease
    characterized by craniofacial malformations, occipital encephalocele, radiohumeral fusions, oligodactyly,
    advanced osseous maturation, and calvarial mineralization defects. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 12 diseases for CYP26B1:    About MalaCards
    hypervitaminosis a    cytochrome p450    encephalocele    encephaloceles
    craniosynostosis    spina bifida    neural tube defects    digeorge syndrome
    oral squamous cell carcinoma    tuberculosis    squamous cell carcinoma    atherosclerosis


    CYP26B1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): CYP26B1
    Human Genome Epidemiology (HuGE) Navigator: CYP26B1 (4 documents)

    Export disorders for CYP26B1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for CYP26B1 gene, integrated from 9 sources (see all 35):
    (articles sorted by number of sources associating them with CYP26B1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of the human cytochrome P450, P450RAI-2, which is predominantly expressed in the adult cerebellum and is responsible for all-trans-retinoic acid metabolism. (PubMed id 10823918)1, 2, 9 White J.A.... Petkovich M. (2000)
    2. Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid. (PubMed id 22019272)1, 2 Laue K.... Robertson S.P. (2011)
    3. A human ALDH1A2 gene variant is associated with incre ased newborn kidney size and serum retinoic acid. (PubMed id 20375987)1, 4 El Kares R....Goodyer P. (2010)
    4. Positive association between ALDH1A2 and schizophreni a in the Chinese population. (PubMed id 19703508)1, 4 Wan C....He L. (2009)
    5. Evidence for a functional genetic polymorphism of the human retinoic acid-metabolizing enzyme CYP26A1, an enzyme that may be involved in spina bifida. (PubMed id 16933217)1, 4 Rat E....Broly F. (2006)
    6. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W....Wilson R.K. (2005)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    8. A second CYP26 P450 in humans and zebrafish: CYP26B1. (PubMed id 10545224)1, 3 Nelson D.R. (1999)
    9. A comparison of the roles of peroxisome proliferator- activated receptor and retinoic acid receptor on CYP26 regulation. (PubMed id 19884280)1, 9 Tay S....Isoherranen N. (2010)
    10. A novel human cytochrome P450, CYP26C1, involved in metabolism of 9- cis and all-trans isomers of retinoic acid. (PubMed id 14532297)1, 9 Taimi M.... Petkovich M. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    Aliases
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      Query String
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 56603 HGNC: 20581 AceView: CYP26B1 Ensembl:ENSG00000003137 euGenes: HUgn56603
    ECgene: CYP26B1 Kegg: 56603 H-InvDB: CYP26B1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CYP26B1 Pharmacogenomics, SNPs, Pathways
    SeattleSNPshttp://pga.gs.washington.edu/data/cyp26b1/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CYP26B1 gene:
    Search GeneIP for patents involving CYP26B1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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