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CYP19A1 Gene

protein-coding GIFtS: 66

GC15M049288

cytochrome P450, family 19, subfamily A, polypeptide 1
(Previous names: cytochrome P450, subfamily XIX (aromatization of androgens) )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: CYP19)

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
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Aliases
ARO ^¹, ², ⁵
ARO1 ^¹, ², ³
Aromatase ^³
CPV1 ^¹, ²
CYAR ^¹, ², ³
CYP19 ^², ³, ⁵
CYPXIX ^³
EC 1.14.14.1 ^³
MGC104309 ^²
OTTHUMP00000162543 ^²
P-450AROM ^¹, ², ³
aromatase ^¹, ²

Descriptions
Estrogen synthetase ^², ³
cytochrome P450, family 19 ^²
cytochrome P450, family 19, subfamily A, polypeptide 1 ^²
cytochrome P450, subfamily XIX (aromatization of androgens) ^¹, ²
flavoprotein-linked monooxygenase ^²
microsomal monooxygenase ^²

External Ids
HGNC: 2594¹
Entrez Gene: 1588²
UniProtKB: P11511³
Ensembl: ENSG00000137869⁷

Search outside databases for aliases for CYP19A1 gene

Previous GC identifers: GC15M044547 GC15M049080 GC15M049217

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for CYP19A1:

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450

proteins are monooxygenases which catalyze many reactions involved in drug metabolism and

synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic

reticulum and catalyzes the last steps of estrogen biosynthesis, three successive hydroxylations

of the A ring of androgens. Mutations in this gene can result in either increased or decreased

aromatase activity; the associated phenotypes suggest that estrogen functions both as a sex

steroid hormone and in growth or differentiation. The gene expresses two transcript variants.

[provided by RefSeq]

UniProtKB/Swiss-Prot: CP19A_HUMAN, P11511

Function: Catalyzes the formation of aromatic C18 estrogens from C19 androgens

Gene Wiki entry for CYP19A1 (Aromatase)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the CYP19A1 gene

Entrez Gene cytogenetic band: 15q21.1 Ensembl cytogenetic band: 15q21.2 HGNC cytogenetic band: 15q21

CYP19A1 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 15 GeneLoc Exon Structure

GeneLoc location for GC15M049288: (about GC identifiers)

Start:	49,287,546 bp from pter
End:	49,418,099 bp from pter
Size:	130,554 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000015.8 NT_010194.16

(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 Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: CP19A_HUMAN, P11511 (See protein sequence)

Recommended Name: Cytochrome P450 19A1

Size: 503 amino acids; 57883 Da

Cofactor: Heme group

Subcellular location: Membrane; Peripheral membrane protein

PDB structure from and Proteopedia :

1TQA (3D)

3EQM (3D)

Secondary accessions: Q16731 Q3B764 Q58FA0

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (2 alternative transcripts):

NP_000094.2 NP_112503.1

ENSEMBL proteins:

ENSP00000384389 ENSP00000379685 ENSP00000379683 ENSP00000260433 ENSP00000383930

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for 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
	Recombinant Proteins from Abcam (Aromatase)
	Human Recombinant Proteins from Abnova (CYP19A1)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

3 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005624	membrane fraction	TAS	2848247
GO:0005783	endoplasmic reticulum	IDA	11256614
GO:0016020	membrane	IEA	--

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Antibodies for CYP19A1:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibodies for CYP19A1
	Browse R&D Systems for Antibodies
	Antibodies from Abcam (Aromatase), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (CYP19A1)
	Novus Biologicals Antibodies for CP19A

Assays for CYP19A1:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

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

Graphical View of Domain Structure for InterPro Entry P11511

ProtoNet protein and cluster: P11511

UniProtKB/Swiss-Prot: CP19A_HUMAN, P11511

Similarity: Belongs to the cytochrome P450 family

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (CYP19A1)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (CYP19A1)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_031226

Applied Biosystems Silencer® siRNAs for CYP19A1

Sigma-Aldrich siRNA and siRNA Panels for CYP19A1

Sigma-Aldrich shRNA for CYP19A1

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for CYP19A1
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_000103
Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_000103
untagged cDNA clones in CMV expression vector (see all 2): NM_000103

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_000103

UniProtKB/Swiss-Prot: CP19A_HUMAN, P11511

Function: Catalyzes the formation of aromatic C18 estrogens from C19 androgens

Catalytic activity: RH + reduced flavoprotein + O(2) = ROH + oxidized flavoprotein + H(2)O

Enzyme Number (IUBMB): EC 1.14.14.1

15/16 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Cyp19a1) (see all 16 ):

	adipose tissue	behavior/neurological	cellular	endocrine/exocrine gland
growth/size	hematopoietic system	homeostasis/metabolism	immune system	liver/biliary system
muscle	nervous system	pigmentation	reproductive system	skeleton

5 Gene Ontology (GO) molecular function terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0009055	electron carrier activity	TAS	2848247
GO:0019825	oxygen binding	TAS	2848247
GO:0020037	heme binding	IEA	--
GO:0046872	metal ion binding	IEA	--
GO:0070330	aromatase activity	IEA	--

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
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 Apr 2009 via Entrez Gene.)
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5/7 Sigma-Aldrich "Your Favorite Gene" Pathways for CYP19A1 (Your Favorite Gene powered by Ingenuity) (see all 7 )

Linoleic Acid Metabolism
IL-6 Signaling
Arachidonic Acid Metabolism
Tryptophan Metabolism
Fatty Acid Metabolism

GeneDecks CYP19A1 for the pathways selected above

About GeneDecksing

Gene Network Central^TM Interacting Genes and Proteins Network for CYP19A1

5/112 Interacting proteins for CYP19A1 (ENSP00000260433³ P11511²) via UniProtKB, MINT, and/or STRING (see all 112 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
STS	P08842²	STRING (score=.818) MINT-4054731
A2M	P01023²	MINT-4054731
ACTB	P60709²	MINT-4054731
ALPP	P05187²	MINT-4054731
APOD	P05090²	MINT-4054731

About this table

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006694	steroid biosynthetic process	TAS	2848247
GO:0055114	oxidation reduction	IEA	--

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(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)
About This Section

Enzo Life Sciences drugs & compounds for CYP19A1

Sigma-Aldrich Small Molecules for CYP19A1:

Inhibitor Ligand

Compounds for CYP19A1 available from Tocris Bioscience

Compound	Action	CAS number
YM 511	Potent aromatase (CYP19) inhibitor	[148869-05-0]
Anastrozole	Potent aromatase (CYP19) inhibitor	[120511-73-1]

About this table

10/35 Novoseek chemical compound relationships for CYP19A1 gene (see all 35 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
androstenedione	91.50	258	8476772 (6), 1827700 (4), 8425476 (3), 11916223 (2) (see all 99)
estradiol	89.76	422	17588628 (5), 2041267 (4), 17005180 (3), 10084953 (3) (see all 99)
steroidal	88.65	272	9797017 (7), 8925290 (3), 9597182 (3), 10474272 (3) (see all 99)
17beta-hydroxysteroid	88.22	133	9929167 (4), 11205867 (3), 9626631 (2), 15876411 (2) (see all 99)
androst-4-ene-3,6,17-trione	83.57	14	8937433 (2), 8129748 (2), 2304374 (1), 7655426 (1) (see all 11)
rogletimide	83.41	12	2353556 (4), 1659868 (1), 1931611 (1), 7949204 (1) (see all 6)
16alpha-hydroxyandrostenedione	81.47	7	10993239 (2), 11379781 (1), 2007137 (1), 12808307 (1) (see all 6)
19-oxoandrostenedione	80.64	1	2304374 (1)
steroid	80.17	254	1641076 (5), 8476778 (4), 17972413 (3), 17728860 (3) (see all 99)
ym-511	79.91	11	7577709 (3), 8809200 (3), 8904814 (1), 9085555 (1) (see all 6)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) 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 Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (CYP19A1)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (CYP19A1)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_031226

Sigma-Aldrich siRNA and siRNA Panels for CYP19A1

Sigma-Aldrich shRNA for CYP19A1

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_000103 NM_031226

REFSEQ mRNAs for CYP19A1 gene (2 alternative transcripts):

NM_000103.3 NM_031226.2

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_000103 NM_031226

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_000103
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_000103
                                 untagged cDNA clones in CMV expression vector (see all 2): NM_000103

Additional cDNA sequence:

AK291778.1 BC020767.1 BC022896.1 BC035714.1 BC035959.1 BC056258.1 BC107785.1 CR591944.1

CR594831.1 CR610414.1 CR615188.1 CR617535.1 CR617751.1 CR619515.1 CR620604.1 CR621023.1

CR622060.1 CR622116.1 DQ118405.1 J04127.1 M18856.1 M22246.1 M28420.1 S52789.1

S52793.1 S52794.1 S58866.1 S85075.1 S96437.1 X13589.1 Y07508.1

24/62 DOTS entries (see all 62 ):

DT.449261 DT.100676727 DT.95300279 DT.101970966 DT.100869537 DT.91861766 DT.121057178 DT.100854649

DT.100676716 DT.121057258 DT.121057260 DT.303062 DT.40215192 DT.91787024 DT.100676720 DT.100676725

DT.121057024 DT.100660172 DT.121056960 DT.70102672 DT.121057151 DT.92416133 DT.121057217 DT.70101056

24/577 AceView cDNA sequences (see all 577 ):

BQ023342 N54268 BX361525 CR622116 BX339221 S52793 S52794 BG572026

BG434800 BG572661 CR619515 BU751976 BQ015412 AL541373 AI436047 BU751889

BG621317 BC035714 H03482 D79084 H03577 CR615188 NM_031226 CR610414

highest scoring ESTs for CYP19A1:

X13589 AA368214 AL540982 AL541360 AL541373 AL543759 AL551641 AU100175 BC020767 BC022896

Unigene Cluster for CYP19A1:

Cytochrome P450, family 19, subfamily A, polypeptide 1

Hs.260074 [show with all ESTs]

Unigene Representative Sequence: NM_031226

GeneLoc Exon Structure

5/12 Alternative Splicing Database (ASD) splice patterns (SP) for CYP19A1 (see all 12 )

ExUns:	1	^	2a	·	2b	^	3a	·	3b	^	4	^	5	^	6	^	7	^	8a	·	8b	^	9a	·	9b	^	10a	·	10b	^	11	^	12a	·	12b	·	12c	^	13a	·	13b	^	14	^	15a	·	15b	^	16a	·	16b	^
SP1:																			-																		-										-
SP2:																																					-										-
SP3:											-		-		-		-		-
SP4:																																					-
SP5:			-		-		-		-		-		-		-		-		-

ExUns:	17
SP1:
SP2:
SP3:
SP4:
SP5:

About this scheme

ECgene alternative splicing isoforms for CYP19A1

5 Ensembl transcripts including schematic representations:

ENST00000405011 ENST00000396404 ENST00000396402 ENST00000260433 ENST00000405913

(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 219 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 )
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CYP19A1 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for CYP19A1

¹ / ² / ³

12 probe-sets matching CYP19A1 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
64527_at²^{, 3}	U95-C	1	1.00	1.00	0.39	0.19	H13091	0.80	1.00	0.91	1
987_g_at²^{, 3}	U95-A	1	1.00	1.00	0.59	1.04	X13589	1.00	1.00	1.00	1
42790_at²	U95-B	1	1.00	1.00	0.21	0.91	--	--	--	--	--
986_at²^{, 3}	U95-A	1	1.00	1.00	0.96	1.29	X13589	1.00	1.00	1.00	1
38039_at²^{, 3}	U95-A	1	1.00	1.00	0.56	0.37	M22246	0.80	1.00	0.91	1
1619_g_at²^{, 3}	U95-A	1	1.00	1.00	0.70	1.18	D21241	0.20	1.00	0.72	1
44388_at²^{, 3}	U95-B	1	0.69	1.00	0.66	0.73	AA628233	0.60	1.00	0.82	1
1618_at*²^{, 3}	U95-A	1	--	--	0.58	0.33	D21241	0.20	1.00	0.72	1
203475_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_000103	0.60	1.00	0.82	1
203475_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
1554296_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
1560295_at²	U133Plus2	1	0.46	1.00	--	--	--	--	--	--	--

About this table

Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: --

SOURCE GeneReport for Unigene cluster: Hs.260074
Expression variation in blood from EXPOLDB for CYP19A1
UniProtKB/Swiss-Prot: CP19A_HUMAN, P11511
Tissue specificity: Brain, placenta and gonads

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for CYP19A1 gene from 5/9 species (see all 9 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	CYP19¹	--	aromatase	87.98(n) 86.25(a)	494003 NM_001008715.1 NP_001008715.1
chimpanzee (Pan troglodytes)	CYP19A1¹	--	cytochrome P450, family 19, subfamily A, polypeptide more	99.8(n) 99.8(a)	453433 XM_001169384.1 XP_001169384.1
cow (Bos taurus)	CYP19¹	--	cytochrome P450, family XIX (conversion of androgen more	86.39(n) 84.06(a)	281740 NM_174305.1 NP_776730.1
rat (Rattus norvegicus)	Cyp19a1¹	--	cytochrome P450, family 19, subfamily a, polypeptide more	80.69(n) 77.85(a)	25147 NM_017085.1 NP_058781.1
mouse (Mus musculus)	Cyp19a1^{1, 5}	9 (31.00 cM)⁵	cytochrome P450, family 19, subfamily a, polypeptide more^{1, 5}	81.41(n)¹ 79.48(a)¹	13075¹ NM_007810.2¹ NP_031836.1¹ AK143323⁵ BC103670⁵ (see all 12)

About this table Species with no ortholog for CYP19A1

ENSEMBL Gene Tree for CYP19A1

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/942 NCBI SNPs in CYP19A1 are shown (see all 942 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 482)

AB	SNP ID	Valid	Chr 15 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs934633^1,2	A,C,F,H,O	49287786(+)	`TTCCAC/TTTGAG`	2	--	ut3¹		10	MN NS EU EA WA	786
	rs4646^1,2	A,C,F,H	49290136(+)	`ATGACC/AAATAG`	2	--	ut3¹		33	EA CSA EU CSAM NA MN NS WA	3890
	rs6493497^1,2	A,C,F,H	49418127(+)	`catttG/Attgtc`	2	--	ng3¹		9	EU EA WA NS	596
	rs10046^1,2	A,C,F,H	49290278(-)	`GTACCC/TACTCT`	2	--	ut3¹ ese³		21	MN EA CSAM NS EU WA NA	2820
	rs934634^1,2	A,C,F,H	49287830(+)	`GGTGTC/TTAGCA`	2	--	ut3¹		15	MN EA NS EU WA	2656
	rs752760^1,2	A,C,F,H	49418771(+)	`TCTGCT/CTGTCT`	2	--	ng3¹		4	EU EA WA	420
	rs2255192^1,2	A,C,F,H	49288127(+)	`ACAGGC/TTAAGC`	2	--	ut3¹		13	EA EU WA NA NS	2210
	rs2236722^1,2	C,F,H	49322287(-)	`TGGTGT/CGGAAT`	2	R/W	mis¹ ese³		17	EA NA EU WA NS	2600
	rs2289104^1,2	C,F,H	49287574(+)	`ATGTCT/CTTCTG`	2	--	ut3¹		5	EA EU WA	1910
	rs12148604^1,2	C,F,H	49288696(+)	`CCATTC/TTTGAA`	2	--	ut3¹		4	EU EA WA	384

About this table

HapMap Linkage Disequilibrium images for CYP19A1 (up to first 250kb)

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

OMIM: 107910

UniProtKB/Swiss-Prot: CP19A_HUMAN, P11511

Defects in CYP19A1 are a cause of familial gynecomastia [MIM:139300]. This is

characterized by an estrogen excess due to an increased aromatase activity

Defects in CYP19A1 are the cause of aromatase deficiency (AROD) [MIM:107910]. AROD is a

rare disease in which fetal androgens are not converted into estrogens due to placental aromatase

deficiency. Thus, pregnant women exhibit a hirsutism, which spontaneously resolves after

post-partum. At birth, female babies present with pseudohermaphroditism due to virilization of

extern genital organs. In adult females, manifestations include delay of puberty, breast

hypoplasia and primary amenorrhoea with multicystic ovaries

10/93 Novoseek disease relationships for CYP19A1 gene (see all 93 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
breast cancer	92.00	2156	10731105 (7), 17020418 (6), 9568066 (6), 15814851 (6) (see all 99)
breast cancer metastatic	83.56	101	9786093 (3), 11129731 (3), 16940812 (3), 9350235 (2) (see all 78)
endometrial cancer	75.45	111	8476761 (5), 17404019 (5), 15846217 (4), 15788666 (4) (see all 53)
endometriosis	73.27	236	8550748 (5), 18048499 (5), 10593363 (4), 17687621 (4) (see all 94)
gynecomastia	72.05	45	16392624 (4), 18426832 (4), 8768875 (3), 10731125 (3) (see all 28)
virilization	66.75	18	10599737 (2), 18804292 (2), 9300203 (1), 8200927 (1) (see all 16)
breast carcinoma	66.44	132	18622573 (6), 18480557 (5), 8603035 (3), 11274648 (3) (see all 76)
endocrine effects	64.74	16	11900212 (1), 15837728 (1), 17996443 (1), 7954417 (1) (see all 13)
polycystic ovary syndrome	64.09	16	12477517 (2), 17162711 (2), 8855823 (1), 1424181 (1) (see all 12)
choriocarcinoma	63.41	64	9328212 (3), 8182306 (2), 9365197 (2), 9528950 (2) (see all 32)

About this table

Human Gene Mutation Database: CYP19A1
Genetic Association Database: CYP19A1
Human Genome Epidemiology Navigator: CYP19A1 (174 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

(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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10/1872 PubMed articles for CYP19A1 gene (see all 1872 ):

CYP1B1 and CYP19 gene polymorphisms and breast cancer incidence: no association in the ARIC study. (PubMed id 15072827)^{1, 3, 6} Thyagarajan B....Gross M. (2004)
Impact of constitutional genetic variation in androgen/oestrogen-regulating genes on age-related changes in human prostate. (PubMed id 12370109)^{1, 3, 6} Azzouzi A.R....Cussenot O. (2002)
Are the T/C polymorphism of the CYP17 gene and the tetranucleotide repeat (TTTA) polymorphism of the CYP19 gene genetic markers for premature coronary artery disease in Caucasians? (PubMed id 16045239)^{1, 3, 6} Letonja M....Petrovic D. (2005)
Association of genetic polymorphisms in CYP19 and CYP1A1 with the oestrogen receptor-positive breast cancer risk. (PubMed id 14602139)^{1, 3, 6} Miyoshi Y....Noguchi S. (2003)
Association of the genetic polymorphism of the CYP19 intron 4[TTTA]n repeat with familial prostate cancer risk in a Japanese population. (PubMed id 14981949)^{1, 3, 6} Suzuki K....Yamanaka H. (2003)
Genetic polymorphisms of estrogen receptor alpha, CYP19, catechol-O-methyltransferase are associated with familial prostate carcinoma risk in a Japanese population. (PubMed id 14508827)^{1, 3, 6} Suzuki K....Yamanaka H. (2003)
[Association of polymorphism of genetic markers of CYP19 and CYP17 with sporadic breast cancer] (PubMed id 14714492)^{1, 3, 6} Artamonov V.V....Zaletaev D.V. (2003)
Association of the CYP17 gene and CYP19 gene polymorphisms with risk of endometriosis in Japanese women. (PubMed id 11925378)^{1, 3, 6} Kado N....Honjo H. (2002)
CYP19 gene polymorphism in endometrial cancer patients. (PubMed id 11216915)^{1, 3, 6} Berstein L.M....Gamajunova V.B. (2001)
CYP19 (aromatase) haplotypes and endometrial cancer risk. (PubMed id 15800924)^{1, 3, 6} Paynter R.A....De Vivo I. (2005)

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 1588	HGNC: 2594	AceView: CYP19A1	Ensembl:ENSG00000137869	euGenes: HUgn1588
ECgene: CYP19A1	H-InvDB: CYP19A1

(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 CYP19A1	Genetics and Cytogenetics in Oncology and Haematology
Wikipedia	http://en.wikipedia.org/wiki/Aromatase
GeneReviews	http://www.genetests.org/query?gene=CYP19A1
NIEHS-SNPs	http://egp.gs.washington.edu/data/cyp19a1/

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CYP19A1 Gene

protein-coding GIFtS: 66

Aliases &
Descriptions
for CYP19A1

Summaries
for CYP19A1

Genomic Location
for CYP19A1

Proteins
for CYP19A1

Protein Domains/
Families
for CYP19A1

Gene Function
for CYP19A1

Pathways & Interactions
for CYP19A1

Drugs & Compounds
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Transcripts
for CYP19A1

Expression
for CYP19A1

Orthologs
for CYP19A1

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Genome Databases showing CYP19A1

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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

CYP19A1 Gene

protein-coding GIFtS: 66

Aliases & Descriptionsfor CYP19A1

Summariesfor CYP19A1

Genomic Locationfor CYP19A1

Proteinsfor CYP19A1

Protein Domains/Familiesfor CYP19A1

Gene Functionfor CYP19A1

Pathways & Interactionsfor CYP19A1

Drugs & Compoundsfor CYP19A1

Transcriptsfor CYP19A1

Expression for CYP19A1

Orthologsfor CYP19A1

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Medical Newsfor CYP19A1

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Search for CYP19A1

Genome Databases showing CYP19A1

Other Databases showing CYP19A1

Specialized Databases showing CYP19A1

Licensable Technologiesfor CYP19A1

Servicesfor CYP19A1

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for CYP19A1

Summaries
for CYP19A1

Genomic Location
for CYP19A1

Proteins
for CYP19A1

Protein Domains/
Families
for CYP19A1

Gene Function
for CYP19A1

Pathways & Interactions
for CYP19A1

Drugs & Compounds
for CYP19A1

Transcripts
for CYP19A1

Expression
for CYP19A1

Orthologs
for CYP19A1

Paralogs
for CYP19A1

SNPs/Variants
for CYP19A1

Disorders & Mutations
for CYP19A1

Medical News
for CYP19A1

Publications
for CYP19A1

Licensable Technologies
for CYP19A1

Services
for CYP19A1