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 Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis and Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency. Among its related pathways are Metabolism 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 NOS1.
UniProtKB/Swiss-Prot 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
- Monarch Initiative
- Search for POR at DataMed
- Search for POR at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for POR Gene
Genomics for POR Gene
GeneHancer (GH) Regulatory Elements for POR Gene
Promoters and enhancers for POR Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around POR on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the POR gene promoter:
-
- HNF-4alpha2
- HNF-4alpha1
- PPAR-alpha
- GR-beta
- GR-alpha
- GR
- Pbx1a
Regulatory Element Products
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 Entrez Gene
- 7q11.23 by HGNC
- 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=Translation N-terminally shortened.; Evidence={ECO:0000305};
Protein Expression for POR Gene
Post-translational modifications for POR Gene
Other Protein References for POR Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for POR (POR/Cytochrome P450 Reductase)
- Novus Biologicals Antibodies for POR
- Invitrogen Antibodies for POR
- GeneTex POR Antibody for POR
-
Boster Bio Antibodies for POR
-
Santa Cruz Biotechnology (SCBT) Antibodies for POR
Protein Products
- R&D Systems Proteins and Enzymes for POR (POR/Cytochrome P450 Reductase)
-
OriGene Purified Proteins for POR
- Search Origene for MassSpec and Protein Over-expression Lysates for POR
- Origene Custom Protein Services for POR
- ProSpec Recombinant Proteins for POR
- Search GeneTex for Proteins for POR
Assay Products
No data available for DME Specific Peptides for POR Gene
Domains & Families for POR Gene
Gene Families for POR Gene
- 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:
- ProtoNet:
Suggested Antigen Peptide Sequences for POR Gene
- GenScript: Design optimal peptide antigens:
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:
- NADPH + n oxidized hemoprotein = NADP(+) + n reduced hemoprotein.
- 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
- cardiovascular system phenotype
- respiratory system phenotype
- limbs/digits/tail phenotype
- vision/eye phenotype
- homeostasis/metabolism phenotype
- nervous system phenotype
- behavior/neurological phenotype
- endocrine/exocrine gland phenotype
- mortality/aging
- cellular phenotype
- muscle phenotype
- craniofacial phenotype
- liver/biliary system phenotype
- reproductive system phenotype
- embryo phenotype
- renal/urinary system phenotype
- growth/size/body region phenotype
- GenomeRNAi human phenotypes for POR:
Animal Model Products
-
Taconic Biosciences Mouse Models for POR
- Cyagen custom Knockout/knockin (KOKI) mouse models for POR
-
CRISPR Products
-
OriGene CRISPR knockouts for POR
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for POR
- genomics-online: gRNA clones - Search results for 119 available POR gene related products
- Overview of 119 available POR gene related products
- Applied Biological Materials CRISPR for POR
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for POR
- GenScript: Design CRISPR guide RNA sequences for POR
miRNA for POR Gene
- miRTarBase miRNAs that target POR
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, 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
- genomics-online: shRNA clones - Search results for 119 available POR gene related products
- Overview of 119 available POR gene related products
Clone Products
- Sino Biological Human cDNA Clone for POR
- VectorBuilder custom plasmid, inducible vectors for POR
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for POR
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for POR
- Applied Biological Materials Clones for POR
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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 |
| mitochondrion | 3 |
| nucleus | 3 |
| cytosol | 3 |
| plasma membrane | 1 |
| peroxisome | 1 |
- Cytosol (2)
- Nucleoplasm (2)
- Vesicles (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005739 | mitochondrion | IEA | -- |
| GO:0005783 | endoplasmic reticulum | IEA | -- |
| GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
| GO:0005829 | cytosol | IBA | -- |
| GO:0016020 | membrane | HDA,IEA | 19946888 |
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 |
.37
|
|
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
IID
MINT
STRING
UniProtKB
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 | -- |
No data available for SIGNOR curated interactions for POR Gene
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 | 291 | |
| Flavin Mononucleotide | Approved, Investigational | Pharma | Target, Enzyme | 8 | ||
| Mitomycin | Approved | Pharma | Enzyme, substrate | Inhibits DNA synthesis,antibiotic and antitumor agent | 0 | |
| Ethylmorphine | Approved, Illicit | Pharma | Enzyme | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| nadph |
|
53-57-6 | ||||
| (S)-lipoic acid |
|
1077-27-6 | ||||
| Ferrocytochrome |
|
1818-68-4 |
|
|
||
| NADP |
|
53-59-8 |
|
(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
- (1) REFSEQ mRNAs :
- (13) Additional mRNA sequences :
- (498) Selected AceView cDNA sequences:
- (24) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000394893 2532 bps (uc064enh.1)
- ENST00000412064 1044 bps (uc064enn.1)
- ENST00000412521 586 bps (uc064eni.1)
- ENST00000414186 548 bps (uc064enj.1)
- ENST00000418341 736 bps (uc064enm.1)
Unigene Clusters for POR Gene
- P450 (cytochrome) oxidoreductase:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for POR
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for POR
- genomics-online: gRNA clones - Search results for 119 available POR gene related products
- Overview of 119 available POR gene related products
- Applied Biological Materials CRISPR for POR
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for POR
- GenScript: Design CRISPR guide RNA sequences for POR
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, 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
- genomics-online: shRNA clones - Search results for 119 available POR gene related products
- Overview of 119 available POR gene related products
Clone Products
- Sino Biological Human cDNA Clone for POR
- VectorBuilder custom plasmid, inducible vectors for POR
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for POR
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for POR
- Applied Biological Materials Clones for POR
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: |
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
NURSA nuclear receptor signaling pathways regulating expression of POR Gene:
PORSOURCE GeneReport for Unigene cluster for POR Gene:
Hs.354056Evidence on tissue expression from TISSUES for POR Gene
- Liver(4.8)
- Lung(4.6)
- Nervous system(4.6)
- Intestine(3.1)
- Adrenal gland(2.6)
- Thyroid gland(2.4)
- Pancreas(2.3)
- Kidney(2.2)
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 and template standards for POR
-
OriGene qPCR primer pairs for POR
- genomics-online: primer clones - Search results for 119 available POR gene related products
- Overview of 119 available POR gene related products
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 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | POR 33 |
|
||
| OR 34 |
|
OneToOne | |||
| cow (Bos Taurus) |
Mammalia | POR 34 33 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | POR 34 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Por 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Por 16 34 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
ManyToMany | |
| chicken (Gallus gallus) |
Aves | POR 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | POR 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | por 33 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | MGC69029 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | POR (2 of 2) 34 |
|
OneToMany | |
| por 34 33 |
|
OneToMany | |||
| -- 33 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | Cpr 34 35 33 |
|
OneToOne | |
| worm (Caenorhabditis elegans) |
Secernentea | emb-8 34 33 |
|
OneToOne | |
| K10D2.6 35 |
|
|
|||
| A. gosspyii yeast (Ashbya gossypii) |
Saccharomycetes | AGOS_AAL121C 33 |
|
||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | NCP1 34 33 |
|
OneToMany | |
| K. lactis yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0D08712g 33 |
|
||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | ATR2 33 |
|
||
| soybean (Glycine max) |
eudicotyledons | Gma.9633 33 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os09g0558900 33 |
|
||
| Os.27682 33 |
|
||||
| barley (Hordeum vulgare) |
Liliopsida | Hv.1549 33 |
|
||
| wheat (Triticum aestivum) |
Liliopsida | Ta.2785 33 |
|
||
| bread mold (Neurospora crassa) |
Ascomycetes | NCU09741 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.1215 34 |
|
OneToOne | |
| fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | ccr1 33 |
|
- 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 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
| SNP ID | Clin | Chr 07 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs10262966 | conflicting-interpretations-of-pathogenicity, Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 75,954,007(+) | A/G/T | coding_sequence_variant, synonymous_variant | |
| rs1037361079 | uncertain-significance, Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 75,985,774(+) | A/G | coding_sequence_variant, missense_variant | |
| rs1057868 | benign, likely-benign, not specified, Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 75,985,688(+) | C/T | coding_sequence_variant, missense_variant | |
| rs1057870 | benign, likely-benign, not specified, Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 75,985,969(+) | G/A | coding_sequence_variant, synonymous_variant | |
| rs1135612 | benign, likely-benign, not specified, Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | 75,980,359(+) | A/G/T | coding_sequence_variant, synonymous_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv970539 | CNV | duplication | 23825009 |
| nsv951359 | CNV | deletion | 24416366 |
| nsv824168 | CNV | gain | 20364138 |
| nsv607517 | CNV | loss | 21841781 |
| nsv528969 | CNV | gain | 19592680 |
| nsv428173 | CNV | gain | 18775914 |
| esv3613747 | CNV | loss | 21293372 |
| esv3613746 | CNV | loss | 21293372 |
| esv3613745 | CNV | loss | 21293372 |
| esv3613744 | CNV | loss | 21293372 |
| esv3613743 | CNV | loss | 21293372 |
| esv3613742 | CNV | loss | 21293372 |
| esv3571928 | CNV | loss | 25503493 |
| esv2674423 | CNV | deletion | 23128226 |
| dgv120n16 | CNV | deletion | 17901297 |
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
(10) MalaCards diseases for POR Gene - From: HGMD, OMIM, ClinVar, GTR, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| antley-bixler syndrome with genital anomalies and disordered steroidogenesis |
|
|
| disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency |
|
|
| 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
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 22 44 58
- 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 22 44 58
- 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 22 44 58
- Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. (PMID: 14758361) Flück CE … Miller WL (Nature genetics 2004) 3 4 22 58
- Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study. (PMID: 15220035) Arlt W … Shackleton CH (Lancet (London, England) 2004) 3 4 22 58
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Sources for POR Gene
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