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POR Gene

protein-coding GIFtS: 71

GC07P075528

P450 (cytochrome) oxidoreductase
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
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Aliases & Descriptions
P450 (cytochrome) oxidoreductase¹ ²		NADPH--cytochrome P450 reductase²
CYPOR¹ ² ³		DKFZp686G04235²
FLJ26468¹ ²		NADPH-dependent cytochrome P450 reductase²
CPR² ³		EC 1.6.2.4³
P450R² ³

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

Search outside databases for aliases for POR gene

Previous GC identifers: GC07P074118 GC07P075181 GC07P075195 GC07P075156 GC07P075189 GC07P075227 GC07P075382

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for POR:

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)

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)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC and Ensembl (release 56), Regulatory elements and Epigenetics data according to SABiosciences)
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Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the POR gene upstream (promoter) region

:
HNF-4alpha2 IRF-1 COUP-TF1 GR-alpha GR-beta Pax-6 STAT3 FOXF2 CUTL1 GATA-1

Epigenetics:

SABiosciences Methyl-Profiler DNA Methylation qPCR Primer Assays for POR:

MePH10381-1A

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)

GeneLoc gene densities for 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

RefSeq DNA sequence:

NC_000007.13 NT_007933.15 NT_079595.2

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene, Novus Biologicals, and/or Sino Biological,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 May 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abnova, OriGene, Novus Biologicals, and/or Epitomics)
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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

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;

PDB structure from and Proteopedia :

1B1C (3D)

3FJO (3D)

Secondary accessions: Q16455 Q197M5 Q8N181 Q9H3M8

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_000932.3

ENSEMBL proteins:

ENSP00000414244 ENSP00000416572 ENSP00000265302 ENSP00000404731 ENSP00000400964 ENSP00000399556

ENSP00000409881 ENSP00000389409 ENSP00000390540 ENSP00000395813 ENSP00000412490 ENSP00000393527

ENSP00000414263 ENSP00000399409 ENSP00000403494 ENSP00000389719 ENSP00000409238 ENSP00000399327

ENSP00000378355 ENSP00000419970

Human Recombinant Proteins

	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	HuPro® and/or Recombinant Proteins from Abnova for POR
	Origene Purified Recombinant Human Protein: POR
	Novus Biologicals Protein for POR
	Novus Biologicals Lysates for POR
	Browse Sino Biological Recombinant Proteins

5/7 Gene Ontology (GO) cellular component terms (GO ID links to tree view) (see all 7 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005625	soluble fraction	--	--
GO:0005739	mitochondrion	--	--
GO:0005783	endoplasmic reticulum	TAS	--
GO:0005789	endoplasmic reticulum membrane	IEA	--
GO:0005792	microsome	--	--

About this table

POR for ontologies About GeneDecksing

Antibodies for POR:

	Millipore Mono- and Polyclonal Antibodies for the study of POR
	Sigma-Aldrich Antibodies for POR
	Browse R&D Systems for Antibodies
	Monoclonal and Polyclonal Antibodies from Abnova (POR)
	Origene Antibodies: POR
	Novus Biologicals Antibodies for POR
	Browse antibodies at Epitomics

Assays for POR:

	Browse Kits and Assays available from Millipore
	Browse ELISAs at Sigma-Aldrich
	Browse R&D Systems for biochemical assays
	Browse Enzo Life Sciences for kits & assays

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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POR for domains About GeneDecksing

5/8 InterPro domains/families (see all 8 ):

IPR017927 Fd_Rdtase_FAD-bd

IPR001094 Flavdoxin-like

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 families:

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

(According to MGI May 08 2010, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, Abnova, siRNAs from Applied Biosystems, Sigma-Aldrich, Clones from Millipore, Sigma-Aldrich, OriGene, Sino Biological, Ontologies according to Gene Ontology Consortium 01 May 2010 via Entrez Gene.)
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Inhib. RNA:		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (POR)
		Origene 29mer shRNA kits in GFP-retroviral vector: POR Origene shRNA RFP: POR Origene basic RS shRNA: POR
		Applied Biosystems Silencer® siRNAs for POR
		Sigma-Aldrich siRNA Panels and siRNA for POR Sigma-Aldrich shRNA Panels and shRNA for POR Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clones for the Expression of Recombinant Proteins Available from Millipore
		Browse iPSC Reprogramming Factors at Sigma-Aldrich
		Origene GFP tagged cDNA clones in CMV expression vector: POR Origene Myc/DDK tagged cDNA clones in CMV expression vector: POR Origene untagged cDNA clones in CMV expression vector (see all 2): POR
		Sino Biological Human cDNA Clone for POR

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

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

Enzyme Number (IUBMB): EC 1.6.2.4

Genatlas biochemistry entry for POR:

P-450 (cytochrome) oxidoreductase

5/7 Gene Ontology (GO) molecular function terms (GO ID links to tree view) (see all 7 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003958	NADPH-hemoprotein reductase activity	TAS	2513880 10048323
GO:0005506	iron ion binding	IEA	--
GO:0010181	FMN binding	IEA	--
GO:0016491	oxidoreductase activity	IEA	--
GO:0019899	enzyme binding	--	--

About this table

POR for ontologies About GeneDecksing

Animal Models: 15/16 MGI mutant phenotypes (inferred from 7 alleles) (MGI details for Por) (see all 16 ):

behavior/neurological	cardiovascular system	cellular	craniofacial	embryogenesis
growth/size	homeostasis/metabolism	lethality-postnatal	lethality-prenatal/perinatal	limbs/digits/tail
liver/biliary system	muscle	nervous system	renal/urinary system	reproductive system

POR for phenotypes About GeneDecksing

(Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, Applied Biosystems GeneAssist, KEGG and/or UniProtKB, (map by GeneGo),
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 May 2010 via Entrez Gene).
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POR for pathways About GeneDecksing

1 Sigma-Aldrich "Your Favorite Gene" Pathway for POR (Your Favorite Gene powered by Ingenuity)

Inositol Metabolism

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

5/14 Interacting proteins for POR (P16435² ENSP00000265302³) via UniProtKB, MINT, and/or STRING (see all 14 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
XRCC6	P12956²	MINT-63487
CRYZ	ENSP00000339399³	STRING: ENSP00000339399
CYP2R1	ENSP00000334592³	STRING: ENSP00000334592
HMOX2	ENSP00000219700³	STRING: ENSP00000219700
UGT1A5	ENSP00000362513³	STRING: ENSP00000362513

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3 Gene Ontology (GO) biological process terms (GO ID links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0009893	positive regulation of metabolic process	IDA	19448135
GO:0032770	positive regulation of monooxygenase activity	IDA	19448135
GO:0055114	oxidation reduction	TAS	10048323

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POR for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
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POR for compounds About GeneDecksing

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for POR
10/462 Novoseek chemical compound relationships for POR gene (see all 462 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
nadph	100.00	569	8593536 (7), 20027147 (6), 10927020 (6), 9774150 (5) (see all 100)
fad	71.11	52	12730215 (4), 19483672 (3), 11473123 (3), 9237990 (2) (see all 38)
heme	59.46	85	7703255 (4), 16928691 (4), 15516695 (4), 18194664 (3) (see all 64)
flavin	42.65	37	11473123 (3), 9701043 (2), 19908820 (2), 16249336 (2) (see all 28)
biliverdin	41.80	27	8226746 (3), 16928691 (2), 12626517 (2), 9681959 (1) (see all 23)
nicotinamide adenine dinucleotide phosphate	28.46	33	9109653 (3), 8218222 (3), 7760689 (3), 17635179 (2) (see all 25)
semiquinone	24.78	18	19055322 (3), 17015278 (2), 16009330 (2), 12631275 (2) (see all 13)
mitomycin c	24.61	37	11350900 (6), 14999778 (5), 17062779 (4), 14555709 (4) (see all 19)
dilauroylphosphatidylcholine	20.09	11	9076987 (1), 9018075 (1), 8268852 (1), 8185679 (1) (see all 11)
7-ethoxycoumarin	19.28	13	7910007 (2), 9381480 (1), 9324001 (1), 9241661 (1) (see all 12)

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4 PharmGKB drug compound relationships for POR gene

Drug compound	PharmGKB Relations	PubMed IDs for articles supporting these relationships
etoposide	FA	2167725 2854106 2972290 3621161
midazolam	PK FA	9145912
vitamin d	PK FA	9145912
xenobiotics	PK FA	9145912

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(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 223 Homo sapiens; Apr 2 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Millipore and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene, microRNA from SABiosciences,
Tagged/untagged cDNA clones from OriGene, Primers from OriGene and/or SABiosciences,
Expression Assays from Applied Biosystems)
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Inhib. RNA:		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (POR)
		Applied Biosystems Silencer® siRNAs: NM_000941
		Origene 29mer shRNA kits in GFP-retroviral vector: POR Origene shRNA RFP: POR Origene basic RS shRNA: POR
		Sigma-Aldrich siRNA Panels and siRNA for POR Sigma-Aldrich shRNA Panels and shRNA for POR Explore Sigma-Aldrich super-pooled esiRNAs

microRNA:

Search SABiosciences for microRNAs that regulate POR:

Assays:

Applied Biosystems TaqMan® Gene Expression Assays:

NM_000941

Clones:

Origene GFP tagged cDNA clones in CMV expression vector: POR
Origene Myc/DDK tagged cDNA clones in CMV expression vector: POR
Origene untagged cDNA clones in CMV expression vector (see all 2): POR

Primers:		Origene genome-wide validated SYBR primer pairs: POR
		SABiosciences RT2 qPCR Primer Assay for POR: PPH00284A

REFSEQ mRNAs for POR gene:

NM_000941.2

Additional cDNA 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 CR590488.1 CR597060.1 CR604362.1 CR604872.1

CR613407.1 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.97837884 DT.100858239 DT.121059045 DT.121059011 DT.121058927 DT.100642580

DT.100670938 DT.100037952 DT.101985353 DT.121058946 DT.40307422 DT.404401 DT.97860574 DT.100864295

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

AL525045 CA306068 BX324829 AL528223 BP367783 BX418822 BE264452 CR613407

BQ650021 BM742635 T29293 BI819768 BF770042 BI824746 BX483095 BQ881468

CD014011 BM969091 CA441934 AA410787 BX324537 CA397684 AU158760 AK129978

highest scoring ESTs for POR:

S90469 AA114169 AA132988 AA143039 AA151115 AA161215 AA235402 AA403285 AA428319 AA428735

Unigene Cluster for POR:

P450 (cytochrome) oxidoreductase

Hs.354056 [show with all ESTs]

Unigene Representative Sequence: CD014011

GeneLoc Exon Structure

5/16 Alternative Splicing Database (ASD) splice patterns (SP) for POR (see all 16 )

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:

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ECgene alternative splicing isoforms for POR

18/27 Ensembl transcripts including schematic representations (see all 27 ):

ENST00000419840 ENST00000450476 ENST00000265302 ENST00000412064 ENST00000495770 ENST00000426184

ENST00000449920 ENST00000421059 ENST00000432753 ENST00000439963 ENST00000453773 ENST00000439269

ENST00000493973 ENST00000447222 ENST00000454934 ENST00000496888 ENST00000487247 ENST00000460892

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 223 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems, Primers from OriGene and/or SABiosciences )
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POR expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for POR

¹ / ² / ³

3 probe-sets matching POR gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
858_at²^{, 3}	U95-A	1	1.00	1.00	1.00	1.00	S90469	1.00	1.00	1.00	1
208928_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AF258341	0.80	1.00	0.91	1
208928_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

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POR for expression About GeneDecksing

Data from Genenote (Publications) and GNF BioGPS
About these images

About these images

CGAP SAGE TAG: CCTCTGGAGG

SOURCE GeneReport for Unigene cluster: Hs.354056

Expression variation in blood from EXPOLDB for POR

Primers:		Origene genome-wide validated SYBR primer pairs: POR
		SABiosciences RT2 qPCR Primer Assay for POR: PPH00284A

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI May 08 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
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Orthologs for POR gene from 5/24 species (see all 24 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	LOC489816¹	--	similar to NADPH--cytochrome P450 reductase (CPR) (P45 more	90.4(n) 93.35(a)	489816 XM_852956.1 XP_858049.1
chimpanzee (Pan troglodytes)	POR¹	--	P450 (cytochrome) oxidoreductase	97.84(n) 97.94(a)	463481 XM_001155498.1 XP_001155498.1
cow (Bos taurus)	POR¹	--	cytochrome P450 reductase	89.79(n) 92.49(a)	532512 NM_001035390.1 NP_001030467.1
rat (Rattus norvegicus)	Por¹	--	P450 (cytochrome) oxidoreductase	86.85(n) 92.61(a)	29441 NM_031576.1 NP_113764.1
mouse (Mus musculus)	Por^{1, 5}	5 (75.00 cM)⁵	P450 (cytochrome) oxidoreductase^{1, 5}	86.41(n)¹ 92.17(a)¹	18984¹ NM_008898.1¹ NP_032924.1¹ AK131867⁵ AK188678⁵ (see all 15)

About this table Species with no ortholog for POR

ENSEMBL Gene Tree for POR

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

MTRR²

POR for paralogs About GeneDecksing

(SNPs according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Genotyping Reagents from Applied Biosystems)
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10/676 NCBI SNPs in POR are shown (see all 676 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 66)

AB	SNP ID	Valid	Chr 7 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Related Data				Allele Frequencies
				--	--	--		--	--				--
--	rs3823884^1,2	C,F,A,H	75544455(-)	`AGGGCT/GCAGGC`	1	--	ut5¹		7		EA NA	2992
	rs8509^1,2	C,F,O	70703389(-)	`TTCCTC/TCTCCT`	1	--	ng3¹		9		EA MN NS NA WA	2298
	rs1057868^1,2	C,F	75615006(+)	`GCCTGC/TCGGGG`	2	A V	ref¹ mis¹ ese³		27		MN EA NS WA NA	6426
--	rs72553975^1,2	F	70631114(+)	`AAGAGC/TGCAAA`	1	--	ng5¹		1		--	1402
--	rs11540674^1,2	C	75612905(+)	`GAACCA/GAGCGC`	2	K E	mis¹ ref¹ ese³		0	--	--	--	--
--	rs72553972^1,2	F	70631063(+)	`CCGGGC/AGACCC`	1	--	ng5¹		1		--	1402
--	rs72557950^1,2	F	75615369(+)	`TCTCCC/TGGGAG`	2	R W	ref¹ mis¹		1		--	1670
--	rs7799657^1,2	C	70629582(+)	`ggtggC/Tgcatg`	1	--	ng5¹		0	--	--	--	--
--	rs17853284^1,2	C	75610876(+)	`CTGGCC/TGGCCG`	2	P L	ref¹ mis¹ ese³		6		NS	1854
--	rs72553971^1,2	F	70631042(+)	`CCACGC/AACTTT`	1	--	ng5¹		1		--	1402

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HapMap Linkage Disequilibrium images for POR (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for POR
2 CNVs: 3686 22956

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
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POR for disorders About GeneDecksing

OMIM: 124015 disorders: 201750

UniProtKB/Swiss-Prot: NCPR_HUMAN, P16435

Defects in POR are the cause of adrenal hyperplasia variant type (AHV) [MIM:201750]; also known as

Antley-Bixler syndrome-like phenotype with disordered steroidogenesis. AHV is a rare variant of congenital adrenal

hyperplasia. It is an autosomal recessive disorder with apparent combined P450C17 and P450C21 deficiency. 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 also present with bone

malformations, in some cases resembling the pattern seen in patients with Antley-Bixler syndrome

Defects in POR are a cause of isolated disordered steroidogenesis (IDS) [MIM:201750]

10/76 Novoseek disease relationships for POR gene (see all 76 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
por deficiency	100.00	46	18259105 (4), 15793702 (4), 19837910 (3), 18630181 (3) (see all 27)
antley-bixler syndrome	98.83	37	16998238 (5), 15793702 (4), 18853185 (3), 18630181 (3) (see all 18)
adrenal hyperplasia congenital	15.55	17	19500762 (2), 17223983 (2), 16915000 (2), 15666853 (2) (see all 12)
ambiguous genitalia	13.29	9	18853185 (2), 15793702 (2), 20124576 (1), 17505056 (1) (see all 7)
skeletal malformation	10.43	7	19500762 (1), 19264869 (1), 18853185 (1), 17960482 (1) (see all 7)
antley-bixler syndrome phenotype	3.43	1	15316970 (1)
bixler syndrome	2.91	1	18493134 (1)
glucocorticoid deficiency	2.77	2	18853185 (1), 17505056 (1)
skeletal dysplasia	2.67	3	19258400 (1), 16103714 (1), 15774560 (1)
21-hydroxylase deficiency	2.62	3	17389698 (3)

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GeneTests: POR

Cytochrome P450 Oxidoreductase Deficiency

Locus Specific Mutation Databases: POR
Human Gene Mutation Database: POR
Human Genome Epidemiology Navigator: POR (38 documents)

(Possibly Related Articles in Doctor's Guide)
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Hay Fever, Allergies Linked to Lower Ovarian, Cervical Cancer Rates: Presented at ACAAI

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
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10/494 PubMed articles for POR gene (see all 494 ):

Compound heterozygous mutations of cytochrome P450 oxidoreductase gene (POR) in two patients with Antley-Bixler syndrome. (PubMed id 15264278)^{1, 3, 4} Adachi M.... Oka A. (2004)
Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study. (PubMed id 15220035)^{1, 3, 4} Arlt W.... Shackleton C.H.L. (2004)
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, 3, 4} Fukami M.... Ogata T. (2005)
Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. (PubMed id 14758361)^{1, 3, 4} Flueck C.E.... Miller W.L. (2004)
Crystal structure of the FMN-binding domain of human cytochrome P450 reductase at 1.93 A resolution. (PubMed id 10048323)^{1, 3, 4} Zhao Q.... Driessen H.P. (1999)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{3, 4} Gerhard D.S....Malek J. (2004)
Expression of enzymatically active CYP3A4 by Caco-2 cells grown on extracellular matrix-coated permeable supports in the presence of 1alpha,25-dihydroxyvitamin D3. (PubMed id 9145912)^{1, 7} Schmiedlin-Ren P....Watkins P.B. (1997)
Quantification of cytochrome P450 reductase gene expression in human tissues. (PubMed id 1550342)^{3, 4} Shephard E.A.... Phillips I.R. (1992)
Isolation of a human cytochrome P-450 reductase cDNA clone and localization of the corresponding gene to chromosome 7q11.2. (PubMed id 2516426)^{2, 3} Shephard E.A....Povey S. (1989)
Structural and functional analysis of NADPH-cytochrome P-450 reductase from human liver: complete sequence of human enzyme and NADPH-binding sites. (PubMed id 2513880)^{3, 4} Haniu M.... Shively J.E. (1989)

(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 ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
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 XenneX, Inc.)

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Patent Information for POR gene:

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GeneCards and IP:

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GeneCards Homepage - Last full update: 21 May 2010 - Incremental updates: 24 May 2010 , 20 Jun 2010

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POR Gene

protein-coding GIFtS: 71

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