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 superpathway of tryptophan utilization and Metabolism. 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 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
- Top Transcription factor binding sites by QIAGEN in the POR gene promoter:
Regulatory Element Products
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)
Genomic View for POR Gene
- Cytogenetic band:
-
- 7q11.23 by Ensembl
- 7q11.23 by Entrez Gene
- 7q11.23 by HGNC


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
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
- Ubiquitination at isoforms=56 and Lys487
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
-
Abcam antibodies for POR
-
Cloud-Clone Corp. Antibodies for POR
- Invitrogen Antibodies for POR
- GeneTex POR antibody 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
-
Cloud-Clone Corp. Proteins for POR
- Search GeneTex for Proteins for POR
-
Abcam proteins for POR
Assay Products
-
Cloud-Clone Corp. Assay Kits for POR
-
Abcam assays for POR
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
- GENATLAS Biochemistry:
- P-450 (cytochrome) oxidoreductase
- UniProtKB/Swiss-Prot CatalyticActivity:
- NADPH + n oxidized hemoprotein = NADP(+) + n reduced hemoprotein.
- 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.
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 | TAS,IEA | 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
- homeostasis/metabolism phenotype
- respiratory system phenotype
- muscle phenotype
- cardiovascular system phenotype
- mortality/aging
- cellular phenotype
- behavior/neurological phenotype
- growth/size/body region phenotype
- endocrine/exocrine gland phenotype
- reproductive system phenotype
- vision/eye phenotype
- embryo phenotype
- renal/urinary system phenotype
- liver/biliary system phenotype
- craniofacial phenotype
- limbs/digits/tail phenotype
- GenomeRNAi human phenotypes for POR:
Animal Model Products
-
Taconic Biosciences Mouse Models for POR
- Cyagen custom Knockout/knockin (KOKI) mouse models for POR
-
-
ViGene Biosciences lentiviral particle packaged cDNA for POR gene
-
ViGene Biosciences ready-to-package AAV shRNAs for POR gene
- Search ViGene Biosciences for POR
CRISPR Products
-
OriGene CRISPR knockouts 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
- Search ViGene Biosciences for POR
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for POR
- Browse OriGene Inhibitory RNA Products For POR
- genomics-online: shRNA clones - Search results for 119 available POR gene related products
- Overview of 119 available POR gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for POR gene
Clone Products
- Sino Biological Human cDNA Clone for POR
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- 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
- 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
-
ViGene Biosciences adenoviral particle packaged cDNA for POR gene
-
ViGene Biosciences lentiviral particle packaged cDNA for POR gene
-
ViGene Biosciences ready-to-package AAV shRNAs for POR gene
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.
- 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:0016020 | membrane | HDA,IEA | 19946888 |
GO:0016021 | integral component of membrane | IEA | -- |
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
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:0009812 | flavonoid metabolic process | IEA | -- |
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 | |
Mitomycin | Approved | Pharma | Enzyme, substrate | Inhibits DNA synthesis,antibiotic and antitumor agent | 0 | |
Ethylmorphine | Approved, Illicit | Pharma | Enzyme | 0 | ||
FAD | Approved | Pharma | Target | 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 :
Unigene Clusters for POR Gene
CRISPR Products
-
OriGene CRISPR knockouts 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
- Search ViGene Biosciences for POR
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for POR
- Browse OriGene Inhibitory RNA Products For POR
- genomics-online: shRNA clones - Search results for 119 available POR gene related products
- Overview of 119 available POR gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for POR gene
Clone Products
- Sino Biological Human cDNA Clone for POR
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- 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
- 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
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, 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
- ectoderm
- endoderm
- mesoderm
- endocrine
- integumentary
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
- urinary
- 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
- bronchus
- lung
- rib
- rib cage
- trachea
- adrenal gland
- kidney
- ovary
- pelvis
- penis
- placenta
- testicle
- urethra
- urinary bladder
- uterus
- vagina
- vulva
- arm
- digit
- femur
- finger
- foot
- forearm
- hand
- humerus
- lower limb
- radius
- thigh
- ulna
- upper limb
- hair
- skin
- spinal column
- spinal cord
- vertebrae
Primer Products
-
OriGene qPCR primer pairs for POR
-
OriGene qPCR primer pairs and template standards for POR
- genomics-online: primer clones - Search results for 119 available POR gene related products
- Overview of 119 available POR gene related 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 33 34 |
|
||
dog (Canis familiaris) |
Mammalia | POR 33 |
|
||
OR 34 |
|
OneToOne | |||
cow (Bos Taurus) |
Mammalia | POR 33 34 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | POR 34 |
|
OneToOne | |
rat (Rattus norvegicus) |
Mammalia | Por 33 |
|
||
mouse (Mus musculus) |
Mammalia | Por 33 16 34 |
|
||
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 33 34 |
|
||||
-- 33 |
|
||||
fruit fly (Drosophila melanogaster) |
Insecta | Cpr 33 34 35 |
|
||
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 33 34 |
|
||
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)
Paralogs for POR Gene
(3) SIMAP similar genes for POR Gene using alignment to 10 proteins:
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 |
---|---|---|---|
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 |
Additional Variant Information for POR Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POR Gene
Disorders for POR Gene

(12) MalaCards diseases for POR Gene - From: HGMD, OMIM, ClinVar, GTR, Swiss-Prot, DISEASES, Novoseek, and GeneCards
Disorder | Aliases | PubMed IDs |
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disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency |
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antley-bixler syndrome with genital anomalies and disordered steroidogenesis |
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antley-bixler syndrome |
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antley-bixler syndrome without genital anomalies or disordered steroidogenesis |
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cytochrome p450 oxidoreductase deficiency |
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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
- (1) GeneCards
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