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

  • Cytochrome P450 Oxidoreductase 2 3 5
  • NADPH--Cytochrome P450 Reductase 3 4
  • P450 (Cytochrome) Oxidoreductase 2 3
  • NADPH--Hemoprotein Reductase 2 3
  • EC 1.6.2.4 4 54
  • CYPOR 3 4
  • P450R 3 4
  • CPR 3 4
  • NADPH-Dependent Cytochrome P450 Reductase 3

External Ids for POR Gene

Previous GeneCards Identifiers for POR Gene

  • GC07P074118
  • GC07P075181
  • GC07P075195
  • GC07P075156
  • GC07P075189
  • GC07P075227
  • GC07P075382
  • GC07P075528
  • GC07P070631

Summaries for POR Gene

Entrez Gene Summary 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 Synthesis of bile acids and bile salts 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.

Gene Wiki entry for POR Gene

Additional gene information for POR Gene

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 for POR Gene

Promoters and enhancers for POR 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
GH07J075913 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 756.4 +19.7 19700 10.2 SIN3A ZNF24 ZBTB40 SP1 SREBF1 SIX5 ZBTB6 LCORL FOXA1 MLX POR RF00017-6384 ENSG00000205485 STAG3L1 PMS2P3 POMZP3 RHBDD2 SNORA14A NSUN5P1 GTF2IRD2B
GH07J075899 Enhancer 0.2 Ensembl 750.6 -0.1 -99 0.2 POR piR-61945-462 RF00017-6374
GH07J075943 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 21.7 +45.6 45550 5.1 SMARCE1 CREB1 MYC HLF L3MBTL2 RAD21 DACH1 MNT ELF3 SP1 SNORA14A POR CCL24 ZP3 RHBDD2 GTF2IP1 RF00017-6387 RF00017-6386 RF00017-6374
GH07J075953 Promoter/Enhancer 1.8 Ensembl ENCODE CraniofacialAtlas dbSUPER 17.7 +59.6 59560 10.7 CTCF GATA3 SREBF1 LCORL MLX RBPJ TCF7L2 NR2F1 NR2F6 CREB1 POR ZP3 CCL26 RHBDD2 CCL24 STAG3L1 SPDYE5 SRRM3 POMZP3 ENSG00000205485
GH07J075931 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 19.3 +36.5 36484 8.2 SIN3A SMARCE1 USF2 ELF1 HLF MAX L3MBTL2 DACH1 ZNF121 MNT STAG3L1 PMS2P3 GTF2IRD2B POR POMZP3 NSUN5P1 HSPB1 CCL26 ENSG00000205485 ENSG00000214243
- 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 UCSC Golden Path with GeneCards custom track

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:
POR Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for POR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • 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};

    Three dimensional structures from OCA and Proteopedia for POR Gene

neXtProt entry 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 Lys56 and Lys487
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Antibody Products

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

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

UniProtKB/Swiss-Prot:

NCPR_HUMAN :
  • Belongs to the NADPH--cytochrome P450 reductase family.
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.
genes like me logo Genes that share domains with POR: view

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=. ;.
GENATLAS Biochemistry:
P-450 (cytochrome) oxidoreductase

Enzyme Numbers (IUBMB) for POR Gene

Phenotypes From GWAS Catalog for POR Gene

Gene Ontology (GO) - Molecular Function 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 --
genes like me logo Genes that share ontologies with POR: view
genes like me logo Genes that share phenotypes with POR: view

Human Phenotype Ontology for POR Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for POR Gene

MGI Knock Outs for POR:
  • Por Por<tm1Cbk>
  • Por Por<tm2Wolf>

Animal Model Products

CRISPR Products

miRNA for POR Gene

Clone Products

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.

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 POR gene
Compartment Confidence
endoplasmic reticulum 5
cytosol 4
mitochondrion 3
nucleus 3
plasma membrane 1
extracellular 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for POR Gene

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
genes like me logo Genes that share ontologies with POR: view

Pathways & Interactions for POR Gene

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

SIGNOR curated interactions for POR Gene

Is activated by:

Gene Ontology (GO) - Biological Process 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:0009725 response to hormone IBA 21873635
genes like me logo Genes that share ontologies with POR: view

Drugs & Compounds for POR Gene

(87) Drugs for POR Gene - From: DrugBank, PharmGKB, ApexBio, HMDB, and Novoseek

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 354
Flavin Mononucleotide Approved, Investigational Pharma Target, Enzyme 10
Mitomycin Approved Pharma Enzyme, substrate Inhibits DNA synthesis,antibiotic and antitumor agent 0
FAD Approved Pharma Target 0

(68) Additional Compounds for POR Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
nadph
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) p'-5'-ester with 1,4-dihydro-1-beta-D-ribofuranosyl-3-pyridinecarboxamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) p'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide
  • b-NADPH
53-57-6
Ferrocytochrome
  • 553-12-8 (FREE acid)
  • Ferrocytochrome b-561
  • H2PpIX
  • HEM
  • Kammerer'S porphyrin
1818-68-4
NADP
  • beta-Nicotinamide adenine dinucleotide phosphate
  • NADP+
  • Nicotinamide adenine dinucleotide phosphate
  • Oxidized nicotinamide-adenine dinucleotide phosphate
  • TPN
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
genes like me logo Genes that share compounds with POR: view

Transcripts for POR Gene

mRNA/cDNA for POR Gene

CRISPR Products

Clone Products

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

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
ECgene alternative splicing isoforms for
POR

Expression for POR Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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).

Protein differential expression in normal tissues from HIPED for POR Gene

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



Protein tissue co-expression partners for POR Gene

NURSA nuclear receptor signaling pathways regulating expression of POR Gene:

POR

SOURCE GeneReport for Unigene cluster for POR Gene:

Hs.354056

Evidence 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
genes like me logo Genes that share expression patterns with POR: view

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.

Orthologs for POR Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia POR 33 32
  • 99.17 (n)
OneToOne
dog
(Canis familiaris)
Mammalia POR 32
  • 90.45 (n)
OR 33
  • 90 (a)
OneToOne
cow
(Bos Taurus)
Mammalia POR 33 32
  • 89.79 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia POR 33
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Por 32
  • 86.85 (n)
mouse
(Mus musculus)
Mammalia Por 17 33 32
  • 86.41 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 33
  • 4 (a)
ManyToMany
chicken
(Gallus gallus)
Aves POR 33 32
  • 78.86 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia POR 33
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia por 32
  • 72.09 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC69029 32
zebrafish
(Danio rerio)
Actinopterygii POR (2 of 2) 33
  • 75 (a)
OneToMany
por 33 32
  • 70.89 (n)
OneToMany
-- 32
fruit fly
(Drosophila melanogaster)
Insecta Cpr 33 34 32
  • 63.12 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea emb-8 33 32
  • 51.83 (n)
OneToOne
K10D2.6 34
  • 50 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAL121C 32
  • 49.97 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NCP1 33 32
  • 48.57 (n)
OneToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D08712g 32
  • 47.1 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons ATR2 32
  • 48.23 (n)
soybean
(Glycine max)
eudicotyledons Gma.9633 32
rice
(Oryza sativa)
Liliopsida Os09g0558900 32
  • 49.37 (n)
Os.27682 32
barley
(Hordeum vulgare)
Liliopsida Hv.1549 32
wheat
(Triticum aestivum)
Liliopsida Ta.2785 32
bread mold
(Neurospora crassa)
Ascomycetes NCU09741 32
  • 54.69 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1215 33
  • 51 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ccr1 32
  • 46.77 (n)
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

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
genes like me logo Genes that share paralogs with POR: view

Variants for POR Gene

Sequence variations from dbSNP and Humsavar for POR Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs10262966 likely-benign, Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 75,954,007(+) A/G/T coding_sequence_variant, synonymous_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, not provided 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
rs121912974 pathogenic, Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency, not provided 75,983,548(+) G/C coding_sequence_variant, missense_variant

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

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

Variation tolerance for POR Gene

Residual Variation Intolerance Score: 78.3% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for POR Gene

The Human Cytochrome P450 Allele Nomenclature Database
POR
Human Gene Mutation Database (HGMD)
POR
SNPedia medical, phenotypic, and genealogical associations of SNPs for
POR

SNP Genotyping and Copy Number Assay Products

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

Disorders for POR Gene

MalaCards: The human disease database

(13) MalaCards diseases for POR Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
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
genes like me logo Genes that share disorders with POR: view

No data available for Genatlas for POR Gene

Publications for POR Gene

  1. 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 43 56
  2. 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 43 56
  3. 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 43 56
  4. 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 23 56
  5. 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 56

Products for POR Gene