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 ina... See more...

Aliases for CYP26B1 Gene

Aliases for CYP26B1 Gene

  • Cytochrome P450 Family 26 Subfamily B Member 1 2 3 5
  • Cytochrome P450, Family 26, Subfamily B, Polypeptide 1 2 3
  • Cytochrome P450 Family 26 Subfamily A Member 1 2 3
  • Cytochrome P450 Retinoic Acid-Inactivating 2 3 4
  • Retinoic Acid-Metabolizing Cytochrome 3 4
  • Cytochrome P450 26B1 3 4
  • P450RAI-2 2 3
  • P450RAI2 3 4
  • CYP26A2 3 4
  • Cytochrome P450, Subfamily XXVIB, Polypeptide 1 3
  • Cytochrome P450 Retinoid Metabolizing Protein 3
  • Cytochrome P450 26A2 4
  • Cytochrome P450RAI-2 4
  • EC 1.14.13.- 4
  • CYP26B1 5
  • RHFCA 3

External Ids for CYP26B1 Gene

Previous GeneCards Identifiers for CYP26B1 Gene

  • GC02M072330
  • GC02M072268
  • GC02M072209
  • GC02M072092
  • GC02M072356

Summaries for CYP26B1 Gene

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 Member 1) is a Protein Coding gene. Diseases associated with CYP26B1 include Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies and Craniosynostosis. Among its related pathways are Signaling by Retinoic Acid and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include iron ion binding and oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen. An important paralog of this gene is CYP26C1.

UniProtKB/Swiss-Prot Summary for CYP26B1 Gene

  • Involved in the metabolism of retinoic acid (RA), rendering this classical morphogen inactive through oxidation (PubMed:10823918, PubMed:22020119). 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 (PubMed:10823918, PubMed:22020119). Generates several hydroxylated forms of RA, including 4-OH-RA, 4-oxo-RA, and 18-OH-RA (PubMed:10823918). Catalyzes the hydroxylation of carbon hydrogen bonds of atRA primarily at C-4 (PubMed:10823918, PubMed:22020119). Essential for postnatal survival (By similarity). 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 (By similarity). 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 (By similarity). 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 (PubMed:22019272).
  • Has also a significant activity in oxidation of tazarotenic acid and may therefore metabolize that xenobiotic in vivo.

Tocris 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.

Gene Wiki entry for CYP26B1 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CYP26B1 Gene

Genomics for CYP26B1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CYP26B1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J072147 Promoter 1.6 EPDnew Ensembl CraniofacialAtlas 250.7 -0.6 -639 3 ZNF600 ZBTB10 ZNF341 FOXA2 CTBP1 SP2 ZNF146 KLF16 ZBTB48 CBX8 CYP26B1 HSALNG0015918 ZNF638 EXOC6B
GH02J072154 Promoter 0.3 EPDnew 250.4 -6.7 -6696 0.1 HSALNG0015922 CYP26B1 HSALNG0015924 EXOC6B
GH02J072143 Promoter/Enhancer 1.7 FANTOM5 Ensembl ENCODE CraniofacialAtlas 12.7 +2.5 2486 2.9 ZIC2 ZBTB10 ZNF341 MAX SP2 SMAD4 RXRA GABPB1 GABPA KLF16 lnc-DYSF-11 CYP26B1 ZNF638 HSALNG0015917 DYSF
GH02J072214 Enhancer 0.7 Ensembl ENCODE 25.5 -67.0 -67039 1 RXRA NFE2 MAFG NFE2L2 MAFK CEBPB EMSY CYP26B1 lnc-DYSF-12 RPS15AP13 EXOC6B
GH02J072270 Enhancer 0.7 Ensembl ENCODE 23.7 -124.0 -124039 2.2 RXRA HNF4A NFIB SP1 ZNF512 GABPA NR2F2 PRDM1 CYP26B1 RPS15AP13 lnc-DYSF-12 EXOC6B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CYP26B1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CYP26B1

Top Transcription factor binding sites by QIAGEN in the CYP26B1 gene promoter:
  • aMEF-2
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • MEF-2
  • Pax-5
  • ZIC2

Genomic Locations for CYP26B1 Gene

Latest Assembly
chr2:72,129,238-72,147,862
(GRCh38/hg38)
Size:
18,625 bases
Orientation:
Minus strand

Previous Assembly
chr2:72,356,367-72,374,991
(GRCh37/hg19 by Entrez Gene)
Size:
18,625 bases
Orientation:
Minus strand

chr2:72,356,367-72,375,167
(GRCh37/hg19 by Ensembl)
Size:
18,801 bases
Orientation:
Minus strand

Genomic View for CYP26B1 Gene

Genes around CYP26B1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CYP26B1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CYP26B1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CYP26B1 Gene

Proteins for CYP26B1 Gene

  • Protein details for CYP26B1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NR63-CP26B_HUMAN
    Recommended name:
    Cytochrome P450 26B1
    Protein Accession:
    Q9NR63
    Secondary Accessions:
    • B2R8M7
    • B7Z2K6
    • B7Z2P4
    • B7Z3B8
    • E4W5W7
    • Q32MC0
    • Q53TW1
    • Q9NP41

    Protein attributes for CYP26B1 Gene

    Size:
    512 amino acids
    Molecular mass:
    57513 Da
    Cofactor:
    Name=heme; Xref=ChEBI:CHEBI:30413;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAH12154.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for CYP26B1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CYP26B1 Gene

Post-translational modifications for CYP26B1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CYP26B1 Gene

Domains & Families for CYP26B1 Gene

Gene Families for CYP26B1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for CYP26B1 Gene

InterPro:
Blocks:
  • E-class P450 group IV signature

Suggested Antigen Peptide Sequences for CYP26B1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ51622, highly similar to Cytochrome P450 26B1 (EC 1.14.-.-) (B7Z2K6_HUMAN)
  • Retinoic acid-metabolizing cytochrome (CP26B_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NR63

UniProtKB/Swiss-Prot:

CP26B_HUMAN :
  • Belongs to the cytochrome P450 family.
Family:
  • Belongs to the cytochrome P450 family.
genes like me logo Genes that share domains with CYP26B1: view

Function for CYP26B1 Gene

Molecular function for CYP26B1 Gene

UniProtKB/Swiss-Prot Function:
Involved in the metabolism of retinoic acid (RA), rendering this classical morphogen inactive through oxidation (PubMed:10823918, PubMed:22020119). 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 (PubMed:10823918, PubMed:22020119). Generates several hydroxylated forms of RA, including 4-OH-RA, 4-oxo-RA, and 18-OH-RA (PubMed:10823918). Catalyzes the hydroxylation of carbon hydrogen bonds of atRA primarily at C-4 (PubMed:10823918, PubMed:22020119). Essential for postnatal survival (By similarity). 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 (By similarity). 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 (By similarity). 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 (PubMed:22019272).
UniProtKB/Swiss-Prot Function:
Has also a significant activity in oxidation of tazarotenic acid and may therefore metabolize that xenobiotic in vivo.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=all-trans-retinoate + O2 + reduced [NADPH--hemoprotein reductase] = all-trans-4-hydroxyretinoate + H(+) + H2O + oxidized [NADPH--hemoprotein reductase]; Xref=Rhea:RHEA:51984, Rhea:RHEA-COMP:11964, Rhea:RHEA-COMP:11965, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:35291, ChEBI:CHEBI:57618, ChEBI:CHEBI:58210, ChEBI:CHEBI:134178; Evidence={ECO:0000269|PubMed:10823918, ECO:0000269|PubMed:22020119};.
UniProtKB/Swiss-Prot Induction:
By retinoic acid.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=1.01 uM for tazarotenic acid (measured in vitro by the production of tazarotenic acid-sulfoxide) {ECO:0000269|PubMed:26937021}; KM=0.56 uM for tazarotenic acid (measured in vitro by the production of hydroxytazarotenic acid production) {ECO:0000269|PubMed:26937021};

Enzyme Numbers (IUBMB) for CYP26B1 Gene

Phenotypes From GWAS Catalog for CYP26B1 Gene

Gene Ontology (GO) - Molecular Function for CYP26B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001972 retinoic acid binding IDA 10823918
GO:0004497 monooxygenase activity IBA 21873635
GO:0005506 iron ion binding IEA --
GO:0005515 protein binding IPI 32814053
GO:0008401 retinoic acid 4-hydroxylase activity IDA 10823918
genes like me logo Genes that share ontologies with CYP26B1: view
genes like me logo Genes that share phenotypes with CYP26B1: view

Human Phenotype Ontology for CYP26B1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CYP26B1 Gene

MGI Knock Outs for CYP26B1:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CYP26B1

No data available for Transcription Factor Targets and HOMER Transcription for CYP26B1 Gene

Localization for CYP26B1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CYP26B1 Gene

Endoplasmic reticulum membrane. Peripheral membrane protein. Microsome membrane. Peripheral membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CYP26B1 gene
Compartment Confidence
cytosol 3
plasma membrane 2
extracellular 2
nucleus 2
endoplasmic reticulum 2
cytoskeleton 1
mitochondrion 1
peroxisome 1
golgi apparatus 1
lysosome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CYP26B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 22899867
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA --
GO:0031090 organelle membrane IEA --
genes like me logo Genes that share ontologies with CYP26B1: view

Pathways & Interactions for CYP26B1 Gene

genes like me logo Genes that share pathways with CYP26B1: view

Gene Ontology (GO) - Biological Process for CYP26B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001709 cell fate determination ISS --
GO:0001768 establishment of T cell polarity IEA --
GO:0001822 kidney development IEA --
GO:0006766 vitamin metabolic process TAS --
GO:0006805 xenobiotic metabolic process IDA 26937021
genes like me logo Genes that share ontologies with CYP26B1: view

No data available for SIGNOR curated interactions for CYP26B1 Gene

Drugs & Compounds for CYP26B1 Gene

(8) Drugs for CYP26B1 Gene - From: DrugBank, DGIdb, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Tretinoin Approved, Investigational Nutra Target 288
Anastrozole Approved, Investigational Pharma Aromatase inhibitor, Potent aromatase (CYP19) inhibitor, Aromatase Inhibitors, Hormone therapy 354
Exemestane Approved, Investigational Pharma Steroidal aromatase inhibitor,selective and irreversible, Steroidal aromatase (CYP19) inhibitor 270
Ketoconazole Approved, Investigational Pharma Inhibitor of cyclosporine oxidase and testosterone 6 beta-hydroxylase, Cytochrome P450c17 inhibitor 196
Talarozole Investigational Pharma Cytochrome P450 inhibitor 0

(5) Tocris Compounds for CYP26B1 Gene

Compound Action Cas Number
Anastrozole Potent aromatase (CYP19) inhibitor 120511-73-1
Exemestane Steroidal aromatase (CYP19) inhibitor 107868-30-4
Ketoconazole Cytochrome P450c17 inhibitor 65277-42-1
TMS Cytochrome P450 1B1 inhibitor 24144-92-1
YM 511 Potent aromatase (CYP19) inhibitor 148869-05-0
genes like me logo Genes that share compounds with CYP26B1: view

Transcripts for CYP26B1 Gene

mRNA/cDNA for CYP26B1 Gene

2 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CYP26B1

Alternative Splicing Database (ASD) splice patterns (SP) for CYP26B1 Gene

No ASD Table

Relevant External Links for CYP26B1 Gene

GeneLoc Exon Structure for
CYP26B1

Expression for CYP26B1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CYP26B1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CYP26B1 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x4.5).

Protein differential expression in normal tissues from HIPED for CYP26B1 Gene

This gene is overexpressed in NK cells (32.8), Blymphocyte (18.6), and Rectum (13.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CYP26B1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CYP26B1

SOURCE GeneReport for Unigene cluster for CYP26B1 Gene:

Hs.91546

mRNA Expression by UniProt/SwissProt for CYP26B1 Gene:

Q9NR63-CP26B_HUMAN
Tissue specificity: Highly expressed in brain, particularly in the cerebellum and pons.

Evidence on tissue expression from TISSUES for CYP26B1 Gene

  • Nervous system(4.6)
  • Muscle(4.3)
  • Eye(4.3)
  • Skin(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CYP26B1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeleton
Regions:
Head and neck:
  • brain
  • head
  • skull
Limb:
  • arm
  • digit
  • finger
  • foot
  • forearm
  • hand
  • humerus
  • lower limb
  • radius
  • toe
  • upper limb
genes like me logo Genes that share expression patterns with CYP26B1: view

Primer products for research

No data available for Protein tissue co-expression partners for CYP26B1 Gene

Orthologs for CYP26B1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CYP26B1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CYP26B1 30
  • 100 (a)
OneToOne
LOC738157 29
  • 99.35 (n)
Dog
(Canis familiaris)
Mammalia CYP26B1 29 30
  • 93.1 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CYP26B1 29 30
  • 92.45 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Cyp26b1 29 16 30
  • 89 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cyp26b1 29
  • 88.93 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia CYP26B1 30
  • 74 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CYP26B1 30
  • 87 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cyp26b1 29
  • 76.45 (n)
Str.12974 29
Zebrafish
(Danio rerio)
Actinopterygii cyp26b1 29 30
  • 72.02 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Cyp313a1 30
  • 20 (a)
ManyToMany
Cyp313b1 30
  • 20 (a)
ManyToMany
Cyp313a4 30
  • 20 (a)
ManyToMany
Cyp313a5 30
  • 19 (a)
ManyToMany
Cyp318a1 30
  • 18 (a)
ManyToMany
Cyp313a2 30
  • 18 (a)
ManyToMany
Cyp313a3 30
  • 18 (a)
ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG11 30
  • 20 (a)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons CYP707A3 29
  • 41 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.5303 30
  • 35 (a)
ManyToMany
-- 30
  • 29 (a)
ManyToMany
Species where no ortholog for CYP26B1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for CYP26B1 Gene

ENSEMBL:
Gene Tree for CYP26B1 (if available)
TreeFam:
Gene Tree for CYP26B1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CYP26B1: view image
Alliance of Genome Resources:
Additional Orthologs for CYP26B1

Paralogs for CYP26B1 Gene

Paralogs for CYP26B1 Gene

(6) SIMAP similar genes for CYP26B1 Gene using alignment to 4 proteins:

  • CP26B_HUMAN
  • E5RHM2_HUMAN
  • E5RHN4_HUMAN
  • E7ER08_HUMAN
genes like me logo Genes that share paralogs with CYP26B1: view

Variants for CYP26B1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CYP26B1 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
997465 Uncertain Significance: Radiohumeral fusions with other skeletal and craniofacial anomalies 72,132,433(-) G/A
NM_019885.4(CYP26B1):c.1333C>T (p.His445Tyr)
MISSENSE
rs112913461 Benign: not provided 72,135,137(-) T/C
NM_019885.3(CYP26B1):c.705+7A>G
INTRON
rs1341772264 Uncertain Significance: Craniosynostosis syndrome 72,132,587(-) C/A
NM_019885.3(CYP26B1):c.1179G>T (p.Met393Ile)
MISSENSE
rs139076534 Benign: not provided 72,133,059(-) G/A
NM_019885.3(CYP26B1):c.1110C>T (p.Gly370=)
SYNONYMOUS
rs139916221 Likely Benign: not provided 72,135,309(-) G/A
NM_019885.3(CYP26B1):c.540C>T (p.Asn180=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CYP26B1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CYP26B1 Gene

Variant ID Type Subtype PubMed ID
nsv582207 CNV loss 21841781
nsv953147 CNV deletion 24416366

Variation tolerance for CYP26B1 Gene

Residual Variation Intolerance Score: 87% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.28; 81.29% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CYP26B1 Gene

Human Gene Mutation Database (HGMD)
CYP26B1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CYP26B1
Leiden Open Variation Database (LOVD)
CYP26B1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CYP26B1 Gene

Disorders for CYP26B1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for CYP26B1 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
radiohumeral fusions with other skeletal and craniofacial anomalies
  • rhfca
craniosynostosis
  • premature closure of cranial sutures
occipital encephalocele
hypervitaminosis a
  • hypervitaminosis a, susceptibility to
neural tube defects
  • neural tube defects, susceptibility to
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CP26B_HUMAN
  • 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. {ECO:0000269 PubMed:22019272}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for CYP26B1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with CYP26B1: view

No data available for Genatlas for CYP26B1 Gene

Publications for CYP26B1 Gene

  1. Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid. (PMID: 22019272) Laue K … Robertson SP (American journal of human genetics 2011) 3 4 72
  2. 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. (PMID: 10823918) White JA … Petkovich M (Proceedings of the National Academy of Sciences of the United States of America 2000) 3 4 22
  3. Identification of Tazarotenic Acid as the First Xenobiotic Substrate of Human Retinoic Acid Hydroxylase CYP26A1 and CYP26B1. (PMID: 26937021) Foti RS … Douguet D (The Journal of pharmacology and experimental therapeutics 2016) 3 4
  4. Comparison of the function and expression of CYP26A1 and CYP26B1, the two retinoic acid hydroxylases. (PMID: 22020119) Topletz AR … Isoherranen N (Biochemical pharmacology 2012) 3 4
  5. A human ALDH1A2 gene variant is associated with increased newborn kidney size and serum retinoic acid. (PMID: 20375987) El Kares R … Goodyer P (Kidney international 2010) 3 40

Products for CYP26B1 Gene

Sources for CYP26B1 Gene