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This gene encodes an endoplasmic reticulum membrane oxidoreductase with an FAD-binding domain and a flavodoxin-like domain. The protein binds two cofactors, FAD and FMN, which allow it to donate electrons directly from NADPH to all microsomal P450 enzymes. Mutations in this gene have been associated with various diseases, including apparent combined P450C17 and P450C21 deficien... See more...
Aliases for POR Gene
Aliases for POR Gene
External Ids for POR Gene
- HGNC: 9208
- Entrez Gene: 5447
- Ensembl: ENSG00000127948
- OMIM: 124015
- UniProtKB: P16435
Previous GeneCards Identifiers for POR Gene
- GC07P074118
- GC07P075181
- GC07P075195
- GC07P075156
- GC07P075189
- GC07P075227
- GC07P075382
- GC07P075528
- GC07P070631
Summaries for POR Gene
-
This gene encodes an endoplasmic reticulum membrane oxidoreductase with an FAD-binding domain and a flavodoxin-like domain. The protein binds two cofactors, FAD and FMN, which allow it to donate electrons directly from NADPH to all microsomal P450 enzymes. Mutations in this gene have been associated with various diseases, including apparent combined P450C17 and P450C21 deficiency, amenorrhea and disordered steroidogenesis, congenital adrenal hyperplasia and Antley-Bixler syndrome. [provided by RefSeq, Jul 2008]
GeneCards Summary for POR Gene
POR (Cytochrome P450 Oxidoreductase) is a Protein Coding gene. Diseases associated with POR include Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency and Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis. Among its related pathways are Zidovudine Pathway, Pharmacokinetics/Pharmacodynamics and Cytochrome P450 - arranged by substrate type. Gene Ontology (GO) annotations related to this gene include enzyme binding and hydrolase activity. An important paralog of this gene is NOS3.
UniProtKB/Swiss-Prot Summary for POR Gene
-
This enzyme is required for electron transfer from NADP to cytochrome P450 in microsomes. It can also provide electron transfer to heme oxygenase and cytochrome B5.
Additional gene information for POR Gene
- HGNC(9208)
- Entrez Gene(5447)
- Ensembl(ENSG00000127948)
- OMIM(124015)
- UniProtKB(P16435)
- Open Targets Platform(ENSG00000127948)
- Monarch Initiative
- Search for POR at DataMed
- Search for POR at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for POR Gene
Genomics for POR Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for POR Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around POR on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for POR
- Top Transcription factor binding sites by QIAGEN in the POR gene promoter:
-
- GR
- GR-alpha
- GR-beta
- HNF-4alpha1
- HNF-4alpha2
- Pbx1a
- PPAR-alpha
Genomic Locations for POR Gene
Genomic Locations for POR Gene
- chr7:75,899,200-75,986,855
- (GRCh38/hg38)
- Size:
- 87,656 bases
- Orientation:
- Plus strand
- chr7:75,528,518-75,616,173
- (GRCh37/hg19)
- Size:
- 87,656 bases
- Orientation:
- Plus strand
Genomic View for POR Gene
Genes around POR on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 7q11.23 by HGNC
- 7q11.23 by Entrez Gene
- 7q11.23 by Ensembl
POR Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for POR Gene
Proteins for POR Gene
-
Protein details for POR Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P16435-NCPR_HUMAN
- Recommended name:
- NADPH--cytochrome P450 reductase
- Protein Accession:
- P16435
- Q16455
- Q197M5
- Q8N181
- Q9H3M8
- Q9UDT3
Protein attributes for POR Gene
- Size:
- 677 amino acids
- Molecular mass:
- 76690 Da
- Cofactor:
- Name=FAD; Xref=ChEBI:CHEBI:57692;
- Cofactor:
- Name=FMN; Xref=ChEBI:CHEBI:58210;
- Quaternary structure:
- No Data Available
- SequenceCaution:
-
- Sequence=AAH34277.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
Protein Expression for POR Gene
Selected DME Specific Peptides for POR Gene
- P16435:
-
- RKSQFRLP
- GKEVGET
- KEPAGENG
- TWREQFWPA
- PRLQARYYSIASSSKVHPNS
- CELLPRLQ
- KMASSSGEGKELYL
- KKLMTKGRYS
- DVQNTFYDIVAE
- EKMKKTGRNI
- GSQTGTA
- RLEQLGAQRIF
- SKIRYESGDHVAVYP
- EEFANRLSKDAHRYGM
- GEGDPTDNA
- GDDDGNLEEDF
- VAEEVSLFS
- EDYLYREELA
- PPRTNVLYELAQYA
- PPFDAKNPFLA
Post-translational modifications for POR Gene
Other Protein References for POR Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ Cytochrome P450 reductase Antibody
- NSJ Bioreagents CYPOR Antibody
-
Custom Antibody ServicesOriGene Antibodies for POR
- Novus Biologicals Antibodies for POR
-
Abcam antibodies for POR
- Invitrogen Antibodies for POR (AFLGC-POR)
-
Boster Bio Antibodies for POR
-
Santa Cruz Biotechnology (SCBT) Antibodies for POR
- Sino Biological Antibodies for POR
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for POR
- Origene Custom Protein Services for POR
- ProSpec Recombinant Proteins for POR
- antibodies-online: Show 18 available POR Proteins ranked by validation data
- Compare Top POR Proteins
-
Abcam proteins for POR
Assay Products
- G Biosciences Immunotag™ Human CPR (Cytochrome P450 Reductase) ELISA
- RayBiotech Custom Human POR/P450R ELISA
-
Signalway ELISA kits for POR
-
Abcam assays for POR
Domains & Families for POR Gene
Gene Families for POR Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Plasma proteins
- Potential drug targets
- Predicted intracellular proteins
- Predicted membrane proteins
Protein Domains for POR Gene
- InterPro:
- Blocks:
-
- Oxidoreductase FAD/NAD(P)-binding
- Flavoprotein pyridine nucleotide cytochrome reductase signature
- Flavodoxin signature
- Flavodoxin/nitric oxide synthase
- FAD-binding
- ProtoNet:
Suggested Antigen Peptide Sequences for POR Gene
- GenScript: Design optimal peptide antigens:
-
- NADPH--cytochrome P450 reductase (NCPR_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P16435- Family:
-
- Belongs to the NADPH--cytochrome P450 reductase family.
- In the N-terminal section; belongs to the flavodoxin family.
- In the C-terminal section; belongs to the flavoprotein pyridine nucleotide cytochrome reductase family.
Function for POR Gene
Molecular function for POR Gene
- UniProtKB/Swiss-Prot Function:
- This enzyme is required for electron transfer from NADP to cytochrome P450 in microsomes. It can also provide electron transfer to heme oxygenase and cytochrome B5.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=NADPH + 2 oxidized [cytochrome P450] = H(+) + NADP(+) + 2 reduced [cytochrome P450]; Xref=Rhea:RHEA:24040, Rhea:RHEA-COMP:14627, Rhea:RHEA-COMP:14628, ChEBI:CHEBI:15378, ChEBI:CHEBI:55376, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349, ChEBI:CHEBI:60344; EC=1.6.2.4; Evidence={ECO:0000255|HAMAP-Rule:MF_03212};.
- GENATLAS Biochemistry:
- P-450 (cytochrome) oxidoreductase
Enzyme Numbers (IUBMB) for POR Gene
Phenotypes From GWAS Catalog for POR Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003958 | NADPH-hemoprotein reductase activity | IEA,TAS | 2513880 |
| GO:0004128 | cytochrome-b5 reductase activity, acting on NAD(P)H | IEA | -- |
| GO:0005515 | protein binding | IPI | 21081644 |
| GO:0008941 | nitric oxide dioxygenase activity | IEA | -- |
| GO:0009055 | electron transfer activity | IEA | -- |
Phenotypes for POR Gene
- MGI mutant phenotypes for POR:
-
inferred from 6 alleles
- nervous system phenotype
- respiratory system phenotype
- cardiovascular system phenotype
- cellular phenotype
- behavior/neurological phenotype
- mortality/aging
- muscle phenotype
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- liver/biliary system phenotype
- renal/urinary system phenotype
- endocrine/exocrine gland phenotype
- reproductive system phenotype
- vision/eye phenotype
- limbs/digits/tail phenotype
- embryo phenotype
- craniofacial phenotype
- GenomeRNAi human phenotypes for POR:
Animal Model Products
-
Taconic Biosciences Mouse Models for POR
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for POR - Select products 50% OFF >
- * POR CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for POR
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for POR
-
Santa Cruz Biotechnology (SCBT) CRISPR for POR
miRNA for POR Gene
- miRTarBase miRNAs that target POR
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for POR
- Browse OriGene Inhibitory RNA Products For POR
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POR
Clone Products
- Applied Biological Materials (abm): Clones for POR - Select products 50% OFF >
- * POR as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for POR
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for POR
Cell Line Products
-
Horizon Cell Lines for POR
No data available for Transcription Factor Targets and HOMER Transcription for POR Gene
Localization for POR Gene
Subcellular locations from UniProtKB/Swiss-Prot for POR Gene
- Endoplasmic reticulum membrane. Single-pass membrane protein. Cytoplasmic side.
| Compartment | Confidence |
|---|---|
| endoplasmic reticulum | 5 |
| cytosol | 4 |
| mitochondrion | 3 |
| nucleus | 3 |
| plasma membrane | 2 |
| extracellular | 2 |
| cytoskeleton | 2 |
| peroxisome | 2 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Cytosol (2)
- Nucleoplasm (2)
- Vesicles (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005739 | mitochondrion | IEA | -- |
| GO:0005783 | endoplasmic reticulum | IEA | -- |
| GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
| GO:0005829 | cytosol | IBA | 21873635 |
Pathways & Interactions for POR Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Cytochrome P450 - arranged by substrate type | ||
| 2 | superpathway of tryptophan utilization | ||
| 3 | Doxorubicin Pathway, Pharmacokinetics | ||
| 4 | Zidovudine Pathway, Pharmacokinetics/Pharmacodynamics | ||
| 5 | Metabolism |
.40
|
|
Pathways by source for POR Gene
6 BioSystems pathways for POR Gene
4 Reactome pathways for POR Gene
2 PharmGKB pathways for POR Gene
Interacting Proteins for POR Gene
Selected Interacting proteins:
P16435-NCPR_HUMAN
ENSP00000419970
for POR Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for POR
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003420 | regulation of growth plate cartilage chondrocyte proliferation | IEA | -- |
| GO:0006805 | xenobiotic metabolic process | TAS | -- |
| GO:0007584 | response to nutrient | IEA | -- |
| GO:0009437 | carnitine metabolic process | IEA | -- |
| GO:0009725 | response to hormone | IBA | 21873635 |
Drugs & Compounds for POR Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Benzphetamine | Approved, Illicit | Pharma | Enzyme, substrate | 0 | ||
| Daunorubicin | Approved | Pharma | Enzyme, substrate | DNA topoisomerase II inhibitor | 383 | |
| Flavin Mononucleotide | Approved, Investigational | Pharma | Target, Enzyme, ligand | 12 | ||
| Mitomycin | Approved | Pharma | Enzyme, substrate | Inhibits DNA synthesis,antibiotic and antitumor agent | 0 | |
| FAD | Approved | Pharma | Target | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| Ferrocytochrome |
|
1818-68-4 |
|
|
(4) ApexBio Compounds for POR Gene
| Compound | Action | Cas Number |
|---|---|---|
| Abiraterone acetate | Cytochrome p450 17a1 inhibitor | 154229-18-2 |
| Avasimibe | ACAT inhibitor,orally bioavailable | 166518-60-1 |
| Ifosfamide | Cytostatic agent | 3778-73-2 |
| Ketoconazole | Inhibitor of cyclosporine oxidase and testosterone 6 beta-hydroxylase | 65277-42-1 |
Transcripts for POR Gene
mRNA/cDNA for POR Gene
- 7 REFSEQ mRNAs :
- 16 NCBI additional mRNA sequence :
- 24 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000394893 2532 nts (view in UCSC)
- ENST00000412064 1044 nts (view in UCSC)
- ENST00000412521 586 nts (view in UCSC)
- ENST00000414186 548 nts (view in UCSC)
- ENST00000418341 736 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for POR - Select products 50% OFF >
- * POR CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for POR
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for POR
-
Santa Cruz Biotechnology (SCBT) CRISPR for POR
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for POR
- Browse OriGene Inhibitory RNA Products For POR
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POR
Clone Products
- Applied Biological Materials (abm): Clones for POR - Select products 50% OFF >
- * POR as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for POR
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for POR
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | ^ | 10a | · | 10b | · | 10c | ^ | 11a | · | 11b | ^ | 12a | · | 12b | ^ | 13 | ^ | 14 | ^ | 15a | · | 15b | · |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP11: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP12: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP13: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP14: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP15: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP16: | - | - | - | - |
| ExUns: | 15c | ^ | 16a | · | 16b | ^ | 17a | · | 17b | ^ | 18a | · | 18b | ^ | 19a | · | 19b | ^ | 20a | · | 20b | ^ | 21 | ^ | 22a | · | 22b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||||||||||||
| SP2: | - | ||||||||||||||||||||||||||
| SP3: | - | ||||||||||||||||||||||||||
| SP4: | |||||||||||||||||||||||||||
| SP5: | |||||||||||||||||||||||||||
| SP6: | - | - | - | ||||||||||||||||||||||||
| SP7: | |||||||||||||||||||||||||||
| SP8: | |||||||||||||||||||||||||||
| SP9: | |||||||||||||||||||||||||||
| SP10: | |||||||||||||||||||||||||||
| SP11: | |||||||||||||||||||||||||||
| SP12: | |||||||||||||||||||||||||||
| SP13: | |||||||||||||||||||||||||||
| SP14: | |||||||||||||||||||||||||||
| SP15: | |||||||||||||||||||||||||||
| SP16: |
Relevant External Links for POR Gene
- GeneLoc Exon Structure for
- POR
Expression for POR Gene
mRNA differential expression in normal tissues according to GTEx for POR Gene
This gene is overexpressed in Liver (x7.9), Whole Blood (x4.7), and Adrenal Gland (x4.2).
This gene is overexpressed in Liver (13.4), Adrenal (8.2), and Placenta (7.4).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for POR Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for POR
SOURCE GeneReport for Unigene cluster for POR Gene:
Hs.354056Evidence on tissue expression from TISSUES for POR Gene
- Liver(4.8)
- Nervous system(4.8)
- Lung(4.7)
- Intestine(3.6)
- Adrenal gland(3.5)
- Pancreas(3)
- Blood(2.9)
- Kidney(2.9)
- Thyroid gland(2.9)
- Skin(2.8)
- Heart(2.7)
- Muscle(2.5)
- Eye(2.4)
- Spleen(2.4)
- Stomach(2.3)
- Lymph node(2.2)
- Bone marrow(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for POR Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- endocrine
- integumentary
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- cerebellum
- cheek
- ear
- epiglottis
- eye
- eyelid
- face
- forehead
- head
- jaw
- larynx
- mandible
- maxilla
- middle ear
- mouth
- neck
- nose
- outer ear
- pharynx
- pituitary gland
- skull
- vocal cord
Thorax:
- bronchus
- lung
- rib
- rib cage
- trachea
Abdomen:
- adrenal gland
- kidney
Pelvis:
- ovary
- pelvis
- penis
- placenta
- testicle
- urethra
- urinary bladder
- uterus
- vagina
- vulva
Limb:
- arm
- digit
- femur
- finger
- foot
- forearm
- hand
- humerus
- lower limb
- radius
- thigh
- ulna
- upper limb
General:
- hair
- skin
- spinal column
- spinal cord
- vertebrae
Primer Products
-
OriGene qPCR primer pairs for POR
-
OriGene qPCR primer pairs and template standards for POR
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for POR Gene
Orthologs for POR Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | POR 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | POR 30 |
|
||
| OR 31 |
|
OneToOne | |||
| Cow (Bos Taurus) |
Mammalia | POR 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | POR 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Por 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Por 30 17 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
ManyToMany | |
| Chicken (Gallus gallus) |
Aves | POR 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | POR 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | por 30 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | MGC69029 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | POR (2 of 2) 31 |
|
OneToMany | |
| por 30 31 |
|
OneToMany | |||
| -- 30 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Cpr 30 31 32 |
|
OneToOne | |
| Worm (Caenorhabditis elegans) |
Secernentea | emb-8 30 31 |
|
OneToOne | |
| K10D2.6 32 |
|
|
|||
| A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AAL121C 30 |
|
||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | NCP1 30 31 |
|
OneToMany | |
| K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0D08712g 30 |
|
||
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | ATR2 30 |
|
||
| Soybean (Glycine max) |
eudicotyledons | Gma.9633 30 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os09g0558900 30 |
|
||
| Os.27682 30 |
|
||||
| Barley (Hordeum vulgare) |
Liliopsida | Hv.1549 30 |
|
||
| Wheat (Triticum aestivum) |
Liliopsida | Ta.2785 30 |
|
||
| Bread mold (Neurospora crassa) |
Ascomycetes | NCU09741 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.1215 31 |
|
OneToOne | |
| Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | ccr1 30 |
|
- Species where no ortholog for POR was found in the sources mined by GeneCards:
-
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Beta proteobacteria (Neisseria meningitidis)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
Evolution for POR Gene
- ENSEMBL:
- Gene Tree for POR (if available)
- TreeFam:
- Gene Tree for POR (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for POR: view image
Paralogs for POR Gene
(3) SIMAP similar genes for POR Gene using alignment to 10 proteins:
- NCPR_HUMAN
- C9JDE2_HUMAN
- C9JQ78_HUMAN
- C9JU80_HUMAN
- E7EMD0_HUMAN
- E7EPN3_HUMAN
- E7EVY7_HUMAN
- E7EWU0_HUMAN
- F5H468_HUMAN
- H0Y4R2_HUMAN
Variants for POR Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for POR Gene
| SNP ID | Clinical significance and condition | Chr 07 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 691478 | Uncertain Significance: Hirschsprung disease | 75,984,941(+) | T/C | MISSENSE_VARIANT | |
| 691923 | Pathogenic: Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 75,985,623(+) | C/A | NONSENSE | |
| 707201 | Likely Benign: Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency | 75,981,062(+) | G/T | SYNONYMOUS_VARIANT | |
| 707244 | Benign: Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency | 75,983,559(+) | C/T | SYNONYMOUS_VARIANT | |
| 707444 | Benign/Likely Benign: Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency; not specified | 75,985,698(+) | C/T | SYNONYMOUS_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv120n16 | CNV | deletion | 17901297 |
| esv2674423 | CNV | deletion | 23128226 |
| esv3571928 | CNV | loss | 25503493 |
| esv3613742 | CNV | loss | 21293372 |
| esv3613743 | CNV | loss | 21293372 |
| esv3613744 | CNV | loss | 21293372 |
| esv3613745 | CNV | loss | 21293372 |
| esv3613746 | CNV | loss | 21293372 |
| esv3613747 | CNV | loss | 21293372 |
| nsv428173 | CNV | gain | 18775914 |
| nsv528969 | CNV | gain | 19592680 |
| nsv607517 | CNV | loss | 21841781 |
| nsv824168 | CNV | gain | 20364138 |
| nsv951359 | CNV | deletion | 24416366 |
| nsv970539 | CNV | duplication | 23825009 |
Residual Variation Intolerance Score:
78.3% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for POR Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POR Gene
Disorders for POR Gene
(18) MalaCards diseases for POR Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency |
|
|
| antley-bixler syndrome with genital anomalies and disordered steroidogenesis |
|
|
| antley-bixler syndrome without genital anomalies or disordered steroidogenesis |
|
|
| antley-bixler syndrome |
|
|
| cytochrome p450 oxidoreductase deficiency |
|
|
Search POR in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
NCPR_HUMAN- Antley-Bixler syndrome, with genital anomalies and disordered steroidogenesis (ABS1) [MIM:201750]: A disease characterized by the association of Antley-Bixler syndrome with steroidogenesis defects and abnormal genitalia. Antley-Bixler syndrome is characterized by craniosynostosis, radiohumeral synostosis present from the perinatal period, midface hypoplasia, choanal stenosis or atresia, femoral bowing and multiple joint contractures. {ECO:0000269 PubMed:14758361, ECO:0000269 PubMed:15264278, ECO:0000269 PubMed:15483095}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency (DISPORD) [MIM:613571]: A disorder resulting in a rare variant of congenital adrenal hyperplasia, with apparent combined P450C17 and P450C21 deficiency and accumulation of steroid metabolites. Affected girls are born with ambiguous genitalia, but their circulating androgens are low and virilization does not progress. Conversely, affected boys are sometimes born undermasculinized. Boys and girls can present with bone malformations, in some cases resembling the pattern seen in patients with Antley-Bixler syndrome. {ECO:0000269 PubMed:14758361, ECO:0000269 PubMed:15220035}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for POR
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for POR Gene
Publications for POR Gene
- Pharmacogenomics of human liver cytochrome P450 oxidoreductase: multifactorial analysis and impact on microsomal drug oxidation. (PMID: 19374516) Gomes AM … Zanger UM (Pharmacogenomics 2009) 3 23 41
- Pharmacogenetics of P450 oxidoreductase: effect of sequence variants on activities of CYP1A2 and CYP2C19. (PMID: 18551037) Agrawal V … Miller WL (Pharmacogenetics and genomics 2008) 3 23 41
- The common P450 oxidoreductase variant A503V is not a modifier gene for 21-hydroxylase deficiency. (PMID: 18397975) Gomes LG … Miller WL (The Journal of clinical endocrinology and metabolism 2008) 3 23 41
- Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients. (PMID: 15483095) Fukami M … Ogata T (The Journal of clinical endocrinology and metabolism 2005) 3 4 23
- Compound heterozygous mutations of cytochrome P450 oxidoreductase gene (POR) in two patients with Antley-Bixler syndrome. (PMID: 15264278) Adachi M … Oka A (American journal of medical genetics. Part A 2004) 3 4 23
ExternalLinks
Products for POR Gene
- View all 3 R&D Systems POR (POR/Cytochrome P450 Reductase) Products
- View all R&D Systems POR (POR/Cytochrome P450 Reductase) Proteins and Enzymes
- View all 2 R&D Systems POR (POR/Cytochrome P450 Reductase) Primary Antibodies
- Learn more about R&D Systems custom POR antibody, protein, and immunoassay development services
- Custom Antibody ServicesOriGene Antibodies for POR
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- Origene Custom Protein Services for POR
- Origene shrna, sirna, and RNAi products in human, mouse, rat for POR
- Browse OriGene Inhibitory RNA Products For POR
- OriGene qPCR primer pairs for POR
- OriGene qPCR primer pairs and template standards for POR
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- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For POR
- Sino Biological Human cDNA Clone for POR
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- VectorBuilder Custom and pre-made DNA vectors for POR (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for POR (ie. lentivirus, AAV, adenovirus)
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- VectorBuilder Virus packaging for POR CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for POR
- antibodies-online: Show 80 available POR Antibodies ranked by validation data
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- antibodies-online: Show 31 available POR Elisa Kits ranked by validation data
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- antibodies-online: Show 18 available POR Proteins ranked by validation data
- Compare Top POR Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for POR
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- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for POR
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- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POR
- Boster Bio Antibodies for POR
- Browse Boster Bio ELISA Kits
Sources for POR Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
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- (128) SNPedia
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- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
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- (159) GeneImprint
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- (170) snOPY
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- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB