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POR Gene

protein-coding GIFtS: 70
GCID: GC07P075528

P450 (Cytochrome) Oxidoreductase

See POR-related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Aliases
P450 (Cytochrome) Oxidoreductase¹ ²		EC 1.6.2.4³ ⁸
CPR² ³		NADPH--Cytochrome P450 Reductase²
CYPOR² ³		NADPH-Dependent Cytochrome P450 Reductase²
P450R² ³

External Ids:	HGNC: 9208¹	Entrez Gene: 5447²	Ensembl: ENSG00000127948⁷	OMIM: 124015⁵	UniProtKB: P16435³

Export aliases for POR gene to outside databases

Previous GC identifers: GC07P074118 GC07P075181 GC07P075195 GC07P075156 GC07P075189 GC07P075227 GC07P075382 GC07P070631

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 (P450 (cytochrome) oxidoreductase) is a protein-coding gene. Diseases associated with POR include disordered steroidogenesis due to cytochrome p450 oxidoreductase, and antley-bixler syndrome with genital anomalies and disordered steroidogenesis. GO annotations related to this gene include iron ion binding and enzyme binding. An important paralog of this gene is NOS3.

UniProtKB/Swiss-Prot: NCPR_HUMAN, P16435

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

Gene Wiki entry for POR (Cytochrome P450 reductase) Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:

NC_000007.13 NC_018918.2 NT_007933.16

Regulatory elements:

Regulatory transcription factor binding sites in the POR gene promoter:
GR PPAR-alpha Pbx1a GR-beta GR-alpha HNF-4alpha2 HNF-4alpha1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): POR promoter sequence

Search Chromatin IP Primers for POR

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat POR

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q11.2 Ensembl cytogenetic band: 7q11.23 HGNC cytogenetic band: 7q11.2

POR Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
POR gene location

GeneLoc information about chromosome 7 GeneLoc Exon Structure

GeneLoc location for GC07P075528: view genomic region (about GC identifiers)

Start:	75,528,518 bp from pter	End:	75,616,173 bp from pter
Size:	87,656 bases	Orientation:	plus strand

1 alternative location:

Chr7+,CRA_TCAG 74,877,484-74,949,237

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: NCPR_HUMAN, P16435 (See protein sequence)

Recommended Name: NADPH--cytochrome P450 reductase

Size: 677 amino acids; 76690 Da

Cofactor: FAD

Cofactor: FMN

Sequence caution: Sequence=AAH34277.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

Selected PDB 3D structures from and Proteopedia for POR (see all 7):

1B1C (3D)

3FJO (3D)

3QE2 (3D)

3QFC (3D)

3QFR (3D)

3QFS (3D)

Secondary accessions: Q16455 Q197M5 Q8N181 Q9H3M8 Q9UDT3

Explore the universe of human proteins at neXtProt for POR: NX_P16435

Explore proteomics data for POR at MOPED

Post-translational modifications:

Ubiquitination² at Lys56, Lys487

Modification sites at PhosphoSitePlus

Selected DME Specific Peptides for POR (P16435) (see all 20)

GSQTGTA

GKEVGET

CELLPRLQ

RKSQFRLP

See POR Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_000932.3

ENSEMBL proteins:

ENSP00000395813 ENSP00000390540 ENSP00000419970 ENSP00000399409 ENSP00000409881

ENSP00000378355 ENSP00000409238 ENSP00000399327 ENSP00000389409 ENSP00000399556

ENSP00000389719 ENSP00000404731 ENSP00000414263 ENSP00000393527 ENSP00000400964

ENSP00000403494 ENSP00000412490 ENSP00000446149 ENSP00000416572 ENSP00000414244

POR Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
	R&D Systems Recombinant & Natural Proteins for POR (POR/Cytochrome P450 Reductase)
	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Protein for POR OriGene Protein Over-expression Lysate for POR OriGene MassSpec for POR OriGene Custom Protein Services for POR
	GenScript Custom Purified and Recombinant Proteins Services for POR
	Novus Biologicals POR Protein Novus Biologicals POR Lysates
	Browse Sino Biological Recombinant Proteins Browse Sino Biological Cell Lysates
	Browse ProSpec Recombinant Proteins
	Browse Proteins at Cloud-Clone Corp.
	Search eBioscience for Proteins for POR
	antibodies-online proteins for POR (5 products)
	antibodies-online peptides for POR

POR Antibody Products:

	Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	R&D Systems Antibodies for POR (POR/Cytochrome P450 Reductase)
	OriGene Antibodies for POR OriGene Custom Antibody Services for POR
	Novus Biologicals POR Antibodies
	Abcam antibodies for POR
	Browse Antibodies at Cloud-Clone Corp.
	ThermoFisher Antibodies for POR
	antibodies-online antibodies for POR (46 products)

POR Assay Products:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Assay Services for POR
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for POR
	Browse Enzo Life Sciences for kits & assays
	Browse ELISAs at Cloud-Clone Corp. Browse CLIAs at Cloud-Clone Corp.
	Search eBioscience for ELISAs for POR
	antibodies-online kits for POR (22 products)

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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Selected InterPro protein domains (see all 9):

IPR017927 Fd_Rdtase_FAD-bd

IPR001094 Flavdoxin

IPR008254 Flavodoxin/NO_synth

IPR001433 OxRdtase_FAD/NAD-bd

IPR003097 FAD-binding_1

Graphical View of Domain Structure for InterPro Entry P16435

ProtoNet protein and cluster: P16435

5 Blocks protein domains:

IPB001094 Flavodoxin signature

IPB001433 Oxidoreductase FAD/NAD(P)-binding

IPB001709 Flavoprotein pyridine nucleotide cytochrome reductase signature

IPB003097 FAD-binding

IPB008254 Flavodoxin/nitric oxide synthase

UniProtKB/Swiss-Prot: NCPR_HUMAN, P16435

Similarity: In the C-terminal section; belongs to the flavoprotein pyridine nucleotide cytochrome reductase family

Similarity: Contains 1 FAD-binding FR-type domain

Similarity: Contains 1 flavodoxin-like domain

Find genes that share domains with POR About GenesLikeMe

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

UniProtKB/Swiss-Prot Summary: NCPR_HUMAN, P16435

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

Catalytic activity: NADPH + n oxidized hemoprotein = NADP(+) + n reduced hemoprotein

Genatlas biochemistry entry for POR:

P-450 (cytochrome) oxidoreductase

Enzyme Number (IUBMB): EC 1.6.2.4¹ ²

Gene Ontology (GO): Selected molecular function terms (see all 13): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003958	NADPH-hemoprotein reductase activity	TAS	10048323
GO:0004128	cytochrome-b5 reductase activity, acting on NAD(P)H	IEA	--
GO:0005506	iron ion binding	IEA	--
GO:0005515	protein binding	IPI	--
GO:0008941	nitric oxide dioxygenase activity	IEA	--

Find genes that share ontologies with POR About GenesLikeMe

Phenotypes:
1 GenomeRNAi human phenotype for POR:

Increased gamma-H2AX phosphory

Selected MGI mutant phenotypes (inferred from 6 alleles) (MGI details for Por) (see all 16):

behavior/neurological	cardiovascular system	cellular	craniofacial	embryogenesis
growth/size/body	homeostasis/metabolism	limbs/digits/tail	liver/biliary system	mortality/aging
muscle	nervous system	renal/urinary system	reproductive system	respiratory system

Find genes that share phenotypes with POR About GenesLikeMe

Animal Models:
MGI mouse knock-outs for POR: Por^tm2Wolf Por^tm1Cbk Por^tm2Ding

genOway: Develop your customized and physiologically relevant rodent model for POR

miRNA Products:		miRTarBase miRNAs that target POR: hsa-mir-671-5p (MIRT039293), hsa-mir-335-5p (MIRT017903), hsa-mir-92a-3p (MIRT049130)

		Block miRNA regulation of human, mouse, rat POR using miScript Target Protectors
		4 qRT-PCR Assays for microRNAs that regulate POR:
		hsa-miR-944 hsa-miR-4282 hsa-miR-570 hsa-miR-4267
		SwitchGear 3'UTR luciferase reporter plasmid: POR 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for POR
		Predesigned siRNA for gene silencing in human, mouse, rat POR

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for POR

Clone Products:		OriGene clones in human, mouse for POR (see all 7) OriGene ORF clones in mouse, rat for POR OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: POR (NM_000121)
		Sino Biological Human cDNA Clone for POR
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for POR
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat POR

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for POR
		Browse ESI BIO Cell Lines and PureStem Progenitors for POR

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POR

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

NCPR_HUMAN, P16435: Endoplasmic reticulum membrane; Peripheral membrane protein. Note=Anchored to the ER

membrane by its N-terminal hydrophobic region

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
endoplasmic reticulum	5
cytosol	2
mitochondrion	2
nucleus	2
peroxisome	2
plasma membrane	2
golgi apparatus	1

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Gene Ontology (GO): 5 cellular component terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005739	mitochondrion	IEA	--
GO:0005783	endoplasmic reticulum	--	--
GO:0005789	endoplasmic reticulum membrane	IEA	--
GO:0016020	membrane	--	--
GO:0043231	intracellular membrane-bounded organelle	IDA	9618440

Find genes that share ontologies with POR About GenesLikeMe

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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SuperPaths for POR About

See pathways by source

Powered
by

SuperPath

Contained pathways About

Cytochrome P450 - arranged by substrate type

cytochrome P450

0.74

1,25-dihydroxyvitamin D3 biosynthesis

0.00

tryptophan utilization II

	tryptophan utilization I	0.71			melatonin degradation I	0.00
	superpathway of melatonin degradation	0.00

Synthesis of bile acids and bile salts

bile acid biosynthesis, neutral pathway

0.48

Doxorubicin Pathway, Pharmacokinetics

Doxorubicin Pathway, Pharmacokinetics

0.43

Zidovudine Pathway, Pharmacokinetics/Pharmacodynamics

Zidovudine Pathway, Pharmacokinetics/Pharmacodynamics

Selected BioSystems Pathways for POR (see all 6)

	cytochrome P450
	melatonin degradation I
	1,25-dihydroxyvitamin D3 biosynthesis
	bile acid biosynthesis, neutral pathway
	superpathway of melatonin degradation

2 PharmGKB Pathways for POR

	Doxorubicin Pathway, Pharmacokinetics
	Zidovudine Pathway, Pharmacokinetics/Pharmacodynamics

Pathway & Disease-focused RT² Profiler PCR Array including POR:

Molecular Toxicology PathwayFinder 384HT in human mouse rat

Interactions:

GeneGlobe Interaction Network for POR

Selected Interacting proteins for POR (P16435^{1, 2, 3}) via UniProtKB, MINT, STRING, and/or I2D (see all 46)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
XRCC6	P12956²^,³	MINT-63487 I2D: score=4
RABEPK	Q7Z6M1²^,³	MINT-8267830 I2D: score=2
CDIPT	O14735³	I2D: score=4
CYP51A1	Q16850³	I2D: score=4
ZMPSTE24	O75844³	I2D: score=4

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Gene Ontology (GO): Selected biological process terms (see all 24): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003420	regulation of growth plate cartilage chondrocyte proliferation	IEA	--
GO:0007584	response to nutrient	IEA	--
GO:0009437	carnitine metabolic process	IEA	--
GO:0009812	flavonoid metabolic process	IEA	--
GO:0018393	internal peptidyl-lysine acetylation	IEA	--

Find genes that share ontologies with POR About GenesLikeMe

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for POR (NCPR)

9 HMDB Compounds for POR About this table

Compound	Synonyms	CAS #	PubMed Ids
FAD	1H-Purin-6-amine flavin dinucleotide (see all 21)	146-14-5	--
Ferricytochrome	553-12-8 (FREE ACID) (see all 21)	1818-68-4	--
Ferrocytochrome	553-12-8 (FREE ACID) (see all 21)	1818-68-4	--
Flavin Mononucleotide	FMN (see all 19)	146-17-8	--
Heme	(protoporphyrinato)iron (see all 19)	14875-96-8	--
Lipoic acid	(+)-alpha-Lipoate (see all 92)	1077-28-7	--
Menadione	Vitamin K3: 1,4-Dihydro-1,4-dioxo-2-methylnaphthalene (see all 49)	58-27-5	--
NADP	Adenine-nicotinamide dinucleotide phosphate (see all 18)	53-59-8	--
NADPH	2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide (see all 23)	53-57-6	--

Selected DrugBank Compounds for POR (see all 11) About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Benzphetamine	Benzfetamine (see all 3)	156-08-1	enzyme	substrate	3148724 1416971 2434473 3125159 3924914
2'-Monophosphoadenosine 5'-Diphosphoribose	--	--	target	--	17139284 17016423 10592235
Flavin-Adenine Dinucleotide	--	146-14-5	target	--	17139284 17016423 10592235
Lipoic Acid	1,2-Dithiolane-3R-pentanoic acid (see all 4)	62-46-4	enzyme	inhibitor	18838505 16391466 19548358
Daunorubicin	--	20830-81-3	enzyme	substrate	10543722 34156
Mitomycin	7-Amino-9α-methoxymitosane (see all 3)	50-07-7	enzyme	substrate	2122607 2123741
Doxorubicin	Adria (see all 4)	23214-92-8	enzyme	substrate	6305277
Nilutamide	--	63612-50-0	enzyme	substrate	1311586
Nitrofurantoin	--	67-20-9	enzyme	substrate	18206659
Riboflavin Monophosphate	--	146-17-8	target	--	10592235
Riboflavin Monophosphate	--	146-17-8	enzyme	--	--

Selected Novoseek inferred chemical compound relationships for POR gene (see all 130) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
nadph	90.2	410	8593536 (7), 1312930 (5), 15516695 (4), 12787027 (4) (see all 99)
semiquinone	81.3	21	19055322 (3), 17015278 (2), 12631275 (2), 16009330 (2) (see all 11)
benzphetamine	80.6	1	1708254 (1)
tirapazamine	78.7	7	2117504 (2), 9271329 (1), 19772319 (1), 10584872 (1) (see all 6)
flavin	78	31	16249336 (2), 19908820 (2), 12787027 (2), 15703263 (2) (see all 21)
biliverdin	76.2	17	12626517 (2), 11853459 (1), 16115609 (1), 15226268 (1) (see all 13)
ethoxyresorufin	73.4	5	1537466 (1), 15486049 (1), 16276964 (1), 17455110 (1) (see all 5)
cypermethrin	71.5	94	8971136 (7), 20027147 (6), 16249336 (5), 10864447 (5) (see all 18)
2',5'-adp	71.2	7	12787027 (2), 16445284 (1), 17580970 (1), 8218222 (1)
2-aminoanthracene	71.1	1	19884324 (1)

2 PharmGKB related drug/compound annotations for POR gene About this table

Drug/compound	PharmGKB Annotation
midazolam	CA
tacrolimus	CA

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(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for POR gene:

NM_000941.2

Unigene Cluster for POR:

P450 (cytochrome) oxidoreductase

Hs.354056 [show with all ESTs]

Unigene Representative Sequence: CD014011

Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 27):

ENST00000453773 ENST00000439963 ENST00000461988(uc003udy.3 uc011kgc.2)

ENST00000448410 ENST00000421059 ENST00000471238 ENST00000394893 ENST00000412521

ENST00000414186 ENST00000432753 ENST00000449920 ENST00000418341 ENST00000412064

ENST00000454934 ENST00000447222 ENST00000426184 ENST00000439297 ENST00000475509(uc011kgb.2)

miRNA Products:		Block miRNA regulation of human, mouse, rat POR using miScript Target Protectors
		4 qRT-PCR Assays for microRNAs that regulate POR:
		hsa-miR-944 hsa-miR-4282 hsa-miR-570 hsa-miR-4267
		SwitchGear 3'UTR luciferase reporter plasmid: POR 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for POR
		Predesigned siRNA for gene silencing in human, mouse, rat POR

Clone Products:		OriGene clones in human, mouse for POR (see all 7) OriGene ORF clones in mouse, rat for POR OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: POR (NM_000121)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for POR
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat POR

Primer Products:		OriGene qPCR primer pairs and template standards for POR OriGene qSTAR qPCR primer pairs in human, mouse for POR
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat POR
		QuantiTect SYBR Green Assays in human, mouse, rat POR
		QuantiFast Probe-based Assays in human, mouse, rat POR

Additional mRNA sequence:

AB051763.1 AB209874.1 AF258341.1 AK129978.1 AK290529.1 AK293194.1 AK296096.1 AK296639.1

AK304511.1 AK312543.1 BC034277.1 BX648619.1 S90469.1

Selected DOTS entries (see all 31):

DT.454059 DT.100670935 DT.95348106 DT.100670950 DT.97860576 DT.121058987 DT.97804833 DT.100670931

DT.100670932 DT.121058884 DT.100858239 DT.121059045 DT.121059011 DT.121058927 DT.100642580 DT.100670938

DT.97837884 DT.100037952 DT.101985353 DT.121058946 DT.40307422 DT.404401 DT.97860574 DT.100864295

Selected AceView cDNA sequences (see all 498):

BQ644488 CR610590 BP367783 CR590488 CA441934 AL525045 AI660469 AL528223

BX483095 BM742635 BM126953 AA410787 AI660549 BM682541 CR613407 AW263435

T29293 BI819768 R75800 CB117678 BM726108 CD671670 BX324829 BQ690874

GeneLoc Exon Structure

Selected Alternative Splicing Database (ASD) splice patterns (SP) for POR (see all 16) About this scheme

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:													-		-		-						-		-				-						-

ExUns:	15c	^	16a	·	16b	^	17a	·	17b	^	18a	·	18b	^	19a	·	19b	^	20a	·	20b	^	21	^	22a	·	22b
SP1:													-
SP2:													-
SP3:													-
SP4:
SP5:

ECgene alternative splicing isoforms for POR

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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POR expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: CCTCTGGAGG

About this image

POR expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 12) fully expand


Brain (Nervous System) fully expand to see all 9 entries
Cerebral Cortex

Adrenal Gland (Endocrine System) fully expand to see all 3 entries
adrenal gland ; glandular cells
gland/adrenal gland/medulla

Neural Tube (Nervous System) fully expand to see all 3 entries
Metencephalon

Ovary (Reproductive System) fully expand to see all 2 entries
Ovarian Mesenchymal Stroma Cells Ovary Interstitium
Oviduct

Liver (Hepatobiliary System) fully expand to see all 2 entries
Hepatocytes Liver Lobule

POR Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

POR Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.354056

Pathway & Disease-focused RT² Profiler PCR Array including POR:

Molecular Toxicology PathwayFinder 384HT in human mouse rat

Primer Products:		OriGene qPCR primer pairs and template standards for POR OriGene qSTAR qPCR primer pairs in human, mouse for POR
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of eukaryotes.

Orthologs for POR gene from Selected species (see all 26) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Por^{1 , 5}	P450 (cytochrome) oxidoreductase^{1, 5}	86.41(n)¹ 92.17(a)¹		5 (75.34 cM)⁵ 18984¹ NM_008898.1¹ NP_032924.1¹ 135670033⁵
chicken (Gallus gallus)	Aves	POR¹	P450 (cytochrome) oxidoreductase	78.86(n) 82.96(a)		417520 NM_001195796.1 NP_001182725.1
lizard (Anolis carolinensis)	Reptilia	POR⁶	P450 (cytochrome) oxidoreductase	81(a)	1 ↔ 1	GL343734.1(130072-142398)
African clawed frog (Xenopus laevis)	Amphibia	MGC69029²	hypothetical protein MGC69029	77.17(n)		BC059318.1
zebrafish (Danio rerio)	Actinopterygii	BC056767.1²	--	77.89(n)		327556 BC056767.1
fruit fly (Drosophila melanogaster)	Insecta	Cpr^{1 , 3}	electron transport NADPH-ferrihemoprotein reductase³ Cytochrome P450 reductase¹	58(a)³ 63.12(n)¹ 57.49(a)¹		2 26C3³ 33883¹ NM_001273199.1¹ NP_001260128.1¹
worm (Caenorhabditis elegans)	Secernentea	K10D2.6³ emb-8¹	NADPH-cytochrome P450³ emb-8¹	50(a)³ 51.83(n)¹ 49.61(a)¹		III(5268752-5271444)³ 175710¹ NM_065702.5¹ NP_498103.1¹
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	NCP1¹	NCP1	48.57(n) 36.94(a)		856438 NP_011908.1
thale cress (Arabidopsis thaliana)	eudicotyledons	ATR2¹	ATR2	48.23(n) 40.55(a)		829144 NM_179141.2 NP_849472.2
rice (Oryza sativa)	Liliopsida	Os.27682²	Oryza sativa (japonica cultivar-group) cDNA cloneJ more	71.23(n)		AK068915.1

ENSEMBL Gene Tree for POR (if available)
TreeFam Gene Tree for POR (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for POR gene

NOS3² NOS2² MTRR² NOS1²

3 SIMAP similar genes for POR using alignment to 10 protein entries: NCPR_HUMAN (see all proteins):

DKFZp686G04235 NOS3 NDOR1

Find genes that share paralogs with POR About GenesLikeMe

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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SNP ID	Valid	Clinical significance	Chr 7 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
VAR_021158⁴		Disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency (DISPORD)⁴	--	see VAR_021158	2	C Y	mis⁴		0	--	--	--	--
VAR_021160⁴		Disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency (DISPORD)⁴	--	see VAR_021160	2	V F	mis⁴		0	--	--	--	--
VAR_021155⁴		Disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency (DISPORD)⁴	--	see VAR_021155	2	A P	mis⁴		0	--	--	--	--
VAR_021154⁴		Disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency (DISPORD)⁴	--	see VAR_021154	2	Y D	mis⁴		0	--	--	--	--
VAR_021159⁴		Antley-Bixler syndrome, with genital anomalies and disordered steroidogenesis (ABS1)⁴	--	see VAR_021159	2	Y C	mis⁴		0	--	--	--	--
VAR_021157⁴		Antley-Bixler syndrome, with genital anomalies and disordered steroidogenesis (ABS1)⁴	--	see VAR_021157	2	V E	mis⁴		0	--	--	--	--
VAR_021156⁴		Disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency (DISPORD)⁴	--	see VAR_021156	2	R H	mis⁴		0	--	--	--	--
rs72552771^1,2	C	pathogenic¹	78917537(+)	`AGACCG/TACGAG`	2	D Y	mis¹		0	--	--	--	--
rs121912974^1,2	C	pathogenic¹	78920012(+)	`TCCTGC/GCTGCA`	2	P A	mis¹		0	--	--	--	--
rs28931608^1,2	C,F	pathogenic¹	78921644(+)	`GGCCCG/ACTACT`	2	/H /R	mis¹ ese³		7		MN NA	1112

HapMap Linkage Disequilibrium report for POR (75528518 - 75616173 bp)

Structural Variations
Database of Genomic Variants (DGV) 8 variations for POR: About this table

Variant ID	Type	Subtype	PubMed ID
dgv120n16	CNV	Deletion	17901297
esv2674423	CNV	Deletion	23128226
nsv528969	CNV	Gain	19592680
nsv428173	CNV	Gain	18775914
nsv824168	CNV	Gain	20364138
essv14753	CNV	CNV	17122850
dgv2103e1	CNV	Complex	17122850
dgv2104e1	CNV	Complex	17122850

The Human Cytochrome P450 Allele Nomenclature Database: POR

Human Gene Mutation Database (HGMD): POR
Locus Specific Mutation Databases (LSDB): POR

Site Specific Mutation Identification with PCR Assays

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DNA2.0 Custom Variant and Variant Library Synthesis for POR

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 124015
OMIM disorders: 201750 613571
UniProtKB/Swiss-Prot: NCPR_HUMAN, P16435

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. 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. Note=The disease is caused by mutations affecting the gene

represented in this entry

6 diseases for POR:
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disordered steroidogenesis due to cytochrome p450 oxidoreductase antley-bixler syndrome with genital anomalies and disordered steroidogenesis cytochrome p450 oxidoreductase deficiency antley-bixler syndrome

amenorrhea congenital adrenal hyperplasia

1 inferred disease relationship from the University of Copenhagen DISEASES database for POR:

Antley-Bixler syndrome

Find genes that share disorders with POR About GenesLikeMe

Selected Novoseek inferred disease relationships for POR gene (see all 24) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
antley-bixler syndrome	92.1	22	16998238 (2), 15793702 (2), 18630181 (2), 16467261 (1) (see all 13)
adrenal hyperplasia congenital	67.4	14	15666853 (2), 16915000 (2), 18493134 (1), 18493133 (1) (see all 10)
virilization	55.7	2	19258400 (1), 15316970 (1)
lipoid congenital adrenal hyperplasia	46.8	1	15817507 (1)
craniosynostosis	40.7	5	16467261 (2), 18493134 (1)
skeletal dysplasia	31.2	2	19258400 (1), 16103714 (1)
adenoma adrenocortical	30.6	1	8496319 (1)
colon carcinoma	20.8	1	8162587 (1)
polycystic ovary syndrome	18.4	2	16103714 (1), 16915000 (1)
addisons disease	8.25	1	15817507 (1)

GeneTests: POR
GeneReviews: POR
Genetic Association Database (GAD): POR
Human Genome Epidemiology (HuGE) Navigator: POR (51 documents)

Export disorders for POR gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for POR gene, integrated from 10 sources (see all 580):
(articles sorted by number of sources associating them with POR)

Utopia: connect your pdf to the dynamic
world of online information

Pharmacogenetics of P450 oxidoreductase: effect of sequence variants on activities of CYP1A2 and CYP2C19. (PubMed id 18551037)^{1, 4, 9} Agrawal V....Miller W.L. (Pharmacogenet. Genomics 2008)
Pharmacogenomics of human liver cytochrome P450 oxidoreductase: multifactorial analysis and impact on microsomal drug oxidation. (PubMed id 19374516)^{1, 4, 9} Gomes A.M....Zanger U.M. (Pharmacogenomics 2009)
Compound heterozygous mutations of cytochrome P450 oxidoreductase gene (POR) in two patients with Antley-Bixler syndrome. (PubMed id 15264278)^{1, 2, 9} Adachi M.... Oka A. (Am. J. Med. Genet. A 2004)
The common P450 oxidoreductase variant A503V is not a modifier gene for 21-hydroxylase deficiency. (PubMed id 18397975)^{1, 4, 9} Gomes L.G....Miller W.L. (J. Clin. Endocrinol. Metab. 2008)
Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. (PubMed id 14758361)^{1, 2, 9} Flueck C.E.... Miller W.L. (Nat. Genet. 2004)
Cytochrome P450 oxidoreductase deficiency: identification and characterization of biallelic mutations and genotype-phenotype correlations in 35 Japanese patients. (PubMed id 19258400)^{1, 4, 9} Fukami M....Ogata T. (J. Clin. Endocrinol. Metab. 2009)
Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients. (PubMed id 15483095)^{1, 2, 9} Fukami M.... Ogata T. (J. Clin. Endocrinol. Metab. 2005)
Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study. (PubMed id 15220035)^{1, 2, 9} Arlt W.... Shackleton C.H.L. (Lancet 2004)
Crystal structure of the FMN-binding domain of human cytochrome P450 reductase at 1.93 A resolution. (PubMed id 10048323)^{1, 2, 9} Zhao Q.... Driessen H.P. (Protein Sci. 1999)
Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)^{1, 4} Bailey S.D....Anand S. (Diabetes Care 2010)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 5447	HGNC: 9208	AceView: POR	Ensembl:ENSG00000127948	euGenes: HUgn5447
ECgene: POR	H-InvDB: POR

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for POR	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for POR	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.ncbi.nlm.nih.gov/books/NBK1116/?term=POR[genesymbol]
NIEHS-SNPs	http://egp.gs.washington.edu/data/por/

Intellectual Property for POR gene
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Patent Information for POR gene:
Search GeneIP for patents involving POR

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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Adenoma Adrenocortical
GASTRIC CARCINOMA
Shock
Colon Cancer
Ovarian Cancer
ANTLEY-BIXLER SYNDROME
Adenoma
Skeletal dysplasia
Polycystic Ovary Syndrome
Carcinoma
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Cytochrome P450 Oxidoreductase Deficiency
Adrenal Hyperplasia Congenital
VIRILIZATION
Addisons Disease
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