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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

POR Gene

protein-coding GIFtS: 68
GCID: GC07P075528

P450 (Cytochrome) Oxidoreductase

Microbiology & Infectious Diseases Congress

35 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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 cytochrome p450 oxidoreductase deficiency, and disordered steroidogenesis due to cytochrome p450 oxidoreductase, and among its related super-pathways are melatonin degradation I and Cytochrome P450 - arranged by substrate type. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000007.13 NT_007933.15 NC_018918.2 NT_079595.2

Regulatory elements:

SABiosciences 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 SABiosciences Chromatin IP Primers for POR

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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

Subcellular location: Endoplasmic reticulum membrane; Peripheral membrane protein. Note=Anchored to the ER membrane by

its N-terminal hydrophobic region

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

6/7 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:

View modification sites using PhosphoSitePlus

View neXtProt modification sites for NX_P16435

4/20 DME Specific Peptides for POR (P16435) (see all 20)

GSQTGTA

GKEVGET

CELLPRLQ

RKSQFRLP

POR Protein expression data from MOPED¹, PaxDb² and MAXQB³ : About this image

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

Human Recombinant Protein Products for POR:

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	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.

Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table

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

POR for ontologies About GeneDecksing

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
	GenScript Custom Superior Antibodies Services for POR
	Novus Biologicals POR Antibodies
	Abcam antibodies for POR
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	ThermoFisher Antibodies for POR
	LSBio Antibodies in human, mouse, rat for POR

Assay Products for POR:

	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.

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

5/9 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

POR for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

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): 5/12 molecular function terms (GO ID links to tree view) (see all 12): 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:0009055	electron carrier activity	IEA	--

POR for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for POR:

Increased gamma-H2AX phosphory

15/16 MGI mutant phenotypes (inferred from 6 alleles) (MGI details for Por) (see all 16):

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

POR for phenotypes About GeneDecksing

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

inGenious Targeting Laboratory - Custom generated mouse model solutions for POR

inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for POR

miRNA Products:
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat POR
		4 QIAGEN miScript miRNA 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:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene RNAi products in human, mouse, rat for POR
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat POR
		Sirion Biotech Custom design and validation of potent shRNA sequences against POR

Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for POR
			Sirion Biotech Customized adenovirus for overexpression of POR Customized adenovirus for potent knockdown of POR

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene clones in human, mouse for POR (see all 8) 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
		Search LifeMap BioReagents cell lines for POR
		Sirion Biotech Customized stable knockdown cell line services for POR Customized inducible knockdown cell line services for POR Customized stable overexpressing cell line services for POR Customized inducible overexpressing cell line services for POR

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POR

(Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for POR About (see all 7)

See pathways by source

SuperPath

Contained pathways About

superpathway of melatonin degradation

superpathway of melatonin degradation

0.92

melatonin degradation I

0.92

Cytochrome P450 - arranged by substrate type

cytochrome P450

0.75

tryptophan utilization II

tryptophan utilization I

0.70

Synthesis of bile acids and bile salts

bile acid biosynthesis, neutral pathway

0.50

Doxorubicin Pathway, Pharmacokinetics

Doxorubicin Pathway, Pharmacokinetics

0.43

5/6 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

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for POR

5/46 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

About this table

Gene Ontology (GO): 5/24 biological process terms (GO ID links to tree view) (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	--

POR for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, IUPHAR, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

POR for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

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	--

10/11 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	--	--

10/130 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)

Search CenterWatch for drugs/clinical trials and news about POR / NCPR

(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,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

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

18/27 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)

Congresses - knowledge worth sharing:
European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

miRNA Products:
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat POR
		4 QIAGEN miScript miRNA 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:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene RNAi products in human, mouse, rat for POR
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat POR
		Sirion Biotech Custom design and validation of potent shRNA sequences against POR

Clone Products:		OriGene clones in human, mouse for POR (see all 8) 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
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat POR
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat POR
		QIAGEN 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

24/31 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

24/498 AceView cDNA sequences (see all 498):

BF770042 CD671670 BM969091 BM726108 AA077451 CR604362 CD014012 BM838203

CD743139 AI660469 BM682541 CR597060 BQ644488 H08462 BX324753 BX427206

CR610590 BQ644167 CB152196 AA410787 AL525045 CD370064 R75800 BI819768

GeneLoc Exon Structure

5/16 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

POR expression in normal human tissues (normalized intensities) POR embryonic expression: see
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

5/33 selected tissues (see all 33) fully expand


Brain (Nervous System) fully expand to see all 13 entries
Thalamus
brain/forebrain/telencephalon

Reproductive System (Reproductive System) fully expand to see all 6 entries
vagina ; squamous epithelial cells

Skin (Integumentary System) fully expand to see all 5 entries
skin ; keratinocytes

Testis (Reproductive System) fully expand to see all 4 entries
Leydig Cells Testis Interstitium
seminal vesicle ; glandular cells

Lung (Respiratory System) fully expand to see all 4 entries
Stem Bronchi
lung ; pneumocytes

See POR Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for POR

SOURCE GeneReport for Unigene cluster: Hs.354056

SABiosciences Expression via Pathway-Focused PCR Array including POR:

Molecular Toxicology PathwayFinder 384HT in human mouse rat

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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)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for POR gene from 10/26 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	Uncharacterized protein	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 57.63(a)¹		2 26C3³ 33883¹ NM_057810.3¹ NP_477158.1¹
worm (Caenorhabditis elegans)	Secernentea	K10D2.6³ emb-8¹	NADPH-cytochrome P450³ Protein EMB-8¹	50(a)³ 51.88(n)¹ 49.61(a)¹		III(5268752-5271444)³ 175710¹ NM_065702.4¹ NP_498103.1¹
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	NCP1¹	Ncp1p	47.25(n) 35.95(a)		856438 NP_011908.1
thale cress (Arabidopsis thaliana)	eudicotyledons	ATR1¹	NADPH-ferrihemoprotein reductase	48.7(n) 41.69(a)		828554 NM_118585.3 NP_194183.1
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)
About This Section

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 NDOR1 NOS3

POR for paralogs About GeneDecksing

(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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

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

Human Gene Mutation Database (HGMD): POR

Locus Specific Mutation Databases (LSDB): POR

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

POR for disorders           About GeneDecksing

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

20/35 diseases for POR (see all 35): About MalaCards

cytochrome p450 oxidoreductase deficiency disordered steroidogenesis due to cytochrome p450 oxidoreductase antley-bixler syndrome with genital anomalies and disordered steroidogenesis antley-bixler syndrome

17-alpha-hydroxylase/17,20-lyase deficiency focal dermal hypoplasia eastern equine encephalitis amenorrhea

21-hydroxylase deficiency addison's disease skeletal dysplasias craniosynostosis

gynecomastia synostosis cytochrome p450 cushing's syndrome

pandas polycystic ovary syndrome conjunctivitis encephalomyelitis

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

Antley-Bixler syndrome

10/24 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

Cytochrome P450 Oxidoreductase Deficiency

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)
About This Section

PubMed articles for POR gene, integrated from 9 sources (see all 579):
(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. (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. (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. (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. (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. (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. (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. (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. (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. (1999)
Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)^{1, 4} Bailey S.D....Anand S. (2010)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		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)
About This Section

Entrez Gene: 5447	HGNC: 9208	AceView: POR	Ensembl:ENSG00000127948	euGenes: HUgn5447
ECgene: POR	H-InvDB: POR

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

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/sites/GeneTests/lab/gene/POR
NIEHS-SNPs	http://egp.gs.washington.edu/data/por/

Intellectual Property for POR gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for POR gene:
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GeneCards and IP:
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