Home
GeneCards Guide
Suite
- MalaCards
- GeneALaCart
- GeneDecks
- GeneIP
- GeneLoc
Terms and Conditions
- Terms of Use
- 3rd Party Notice
About Us
User Feedback
Mirror sites

Set Analyses:

Generates a file of GeneCards annotations for your list of genes

Advanced Search

Search By

Section (entire)

for

All GeneCards Within gene subset (to enable gene prioritization):
or upload a file of gene symbols

Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CYP4V2 Gene

protein-coding GIFtS: 54
GCID: GC04P187112

cytochrome P450, family 4, subfamily V, polypeptide 2

Explore 18 diseases affiliated with
CYP4V2 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Cytochrome P450, Family 4, Subfamily V, Polypeptide 2¹ ²
CYP4AH1¹ ²
BCD² ⁵
Cytochrome P450 4V2²
EC 1.14.13.-³
EC 1.14.14.1⁸

External Ids:	HGNC: 23198¹	Entrez Gene: 285440²	Ensembl: ENSG00000145476⁷	OMIM: 608614⁵	UniProtKB: Q6ZWL3³

Export aliases for CYP4V2 gene to outside databases

Previous GC identifers: GC00U916976 GC04P187488 GC04P187349 GC04P182864

(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 CYP4V2:

This gene encodes a member of the cytochrome P450 hemethiolate protein superfamily which are involved in oxidizing

various substrates in the metabolic pathway. It is implicated in the metabolism of fatty acid precursors into n-3

polyunsaturated fatty acids. Mutations in this gene result in Bietti crystalline corneoretinal dystrophy. (provided by

RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: CP4V2_HUMAN, Q6ZWL3

Function: Catalyzes the omega-hydroxylation of medium-chain saturated fatty acids such as laurate, myristate and

palmitate in an NADPH-dependent pathway. The substrate specificity is higher for myristate > laurate > palmitate

(C14>C16>C12). May have a role in fatty acid and steroid metabolism in the eye

Gene Wiki entry for CYP4V2

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000004.11 NC_018915.1 NT_016354.19

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CYP4V2 gene promoter:
E2F-4 E2F-3a HFH-3 E2F-5 AML1a E2F-2 FOXI1 E2F E2F-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): CYP4V2 promoter sequence

Search SABiosciences Chromatin IP Primers for CYP4V2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CYP4V2

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

Entrez Gene cytogenetic band: 4q35.2 Ensembl cytogenetic band: 4q35.2 HGNC cytogenetic band: 4q35.2

CYP4V2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CYP4V2 gene location

GeneLoc information about chromosome 4 GeneLoc Exon Structure

GeneLoc location for GC04P187112: view genomic region (about GC identifiers)

Start:	187,112,674 bp from pter	End:	187,134,617 bp from pter
Size:	21,944 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CP4V2_HUMAN, Q6ZWL3 (See protein sequence)

Recommended Name: Cytochrome P450 4V2

Size: 525 amino acids; 60724 Da

Cofactor: Heme group (By similarity)

Subcellular location: Endoplasmic reticulum membrane; Single-pass membrane protein (Potential)

Secondary accessions: B7U6W2 Q6ZTM4

Alternative splicing: 2 isoforms: Q6ZWL3-1 Q6ZWL3-2 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CYP4V2: NX_Q6ZWL3

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q6ZWL3

4 DME Specific Peptides for CYP4V2 (Q6ZWL3)

RLFPSVP

ICETAMG

PFSAGPRNCIGQKFA

DIREEVDTFMFEGHDTT

CYP4V2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_997235.3

ENSEMBL proteins:

ENSP00000368079

Human Recombinant Protein Products for CYP4V2:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells Browse OriGene Protein Over-expression Lysates OriGene Custom Protein Services for CYP4V2
	GenScript Custom Purified and Recombinant Proteins Services for CYP4V2
	Novus Biologicals CYP4V2 Protein Novus Biologicals CYP4V2 Lysate
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for CYP4V2

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005789	endoplasmic reticulum membrane	IEA	--
GO:0016021	integral to membrane	IEA	--

CYP4V2 for ontologies About GeneDecksing

CYP4V2 Antibody Products:

	Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Browse R&D Systems for Antibodies
	Browse OriGene Antibodies OriGene Custom Antibody Services for CYP4V2
	GenScript Custom Superior Antibodies Services for CYP4V2
	Novus Biologicals CYP4V2 Antibodies
	Search for Antibodies for CYP4V2 at Abcam
	Uscn Antibodies for CYP4V2
	Search ThermoFisher Antibodies for CYP4V2

Assay Products for CYP4V2:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for CYP4V2
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for CYP4V2

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

CYP4V2 for domains About GeneDecksing

3 InterPro domains/families:

IPR001128 Cyt_P450

IPR017972 Cyt_P450_CS

IPR002401 Cyt_P450_E_grp-I

Graphical View of Domain Structure for InterPro Entry Q6ZWL3

ProtoNet protein and cluster: Q6ZWL3

UniProtKB/Swiss-Prot: CP4V2_HUMAN, Q6ZWL3

Similarity: Belongs to the cytochrome P450 family

(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 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: CP4V2_HUMAN, Q6ZWL3

Function: Catalyzes the omega-hydroxylation of medium-chain saturated fatty acids such as laurate, myristate and

palmitate in an NADPH-dependent pathway. The substrate specificity is higher for myristate > laurate > palmitate

(C14>C16>C12). May have a role in fatty acid and steroid metabolism in the eye

Enzyme regulation: Inhibited by N-hydroxy-N'-(4-n-butyl-2-methylphenyl formamidine)(HET0016) with an IC(50) of 38 nM

Biophysicochemical properties: Kinetic parameters: KM=65 uM for myristic acid; KM=140 uM for lauric acid; KM=430 uM for

palmitic acid; Note=Vmax is the nearly the same for myristic acid and for lauric acid and reduced about 30% for

palmitic acid;

Enzyme Numbers (IUBMB): EC 1.14.14.1² EC 1.14.13.-¹

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004497	monooxygenase activity	IEA	--
GO:0005506	iron ion binding	IEA	--
GO:0009055	electron carrier activity	IEA	--
GO:0016705	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	IEA	--
GO:0020037	heme binding	IEA	--

CYP4V2 for ontologies About GeneDecksing

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for CYP4V2

miRNA Products:		OriGene 3'-UTR Clone: CYP4V2 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CYP4V2
		8/12 QIAGEN miScript miRNA Assays for microRNAs that regulate CYP4V2 (see all 12):
		hsa-miR-142-5p hsa-miR-576-5p hsa-miR-607 hsa-miR-548am hsa-miR-526b hsa-miR-1236 hsa-miR-4306 hsa-miR-216b

		SwitchGear 3'UTR luciferase reporter plasmid: CYP4V2 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CYP4V2 (see all 6) OriGene siRNA: CYP4V2
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CYP4V2
		Sirion Biotech Custom design and validation of potent shRNA sequences against CYP4V2

Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for CYP4V2
			Sirion Biotech Customized adenovirus for overexpression of CYP4V2 Sirion Biotech Customized adenovirus for potent knockdown of CYP4V2

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CYP4V2 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CYP4V2 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: CYP4V2 (NM_207352)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for CYP4V2
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CYP4V2

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for CYP4V2
		Search LifeMap BioReagents cell lines for CYP4V2
		Sirion Biotech Customized stable knockdown cell line services for CYP4V2 Sirion Biotech Customized inducible knockdown cell line services for CYP4V2 Sirion Biotech Customized stable overexpressing cell line services for CYP4V2 Sirion Biotech Customized inducible overexpressing cell line services for CYP4V2

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CYP4V2

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Cytochrome P450 - arranged by substrate type

cytochrome P450

0.73

Biological oxidations

metapathway biotransformation

0.41

2 BioSystems Pathways for CYP4V2

	cytochrome P450
	metapathway biotransformation

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for CYP4V2

STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

2 Interacting proteins for CYP4V2 (Q6ZWL3³ ENSP00000368079⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SIN3A	Q96ST3³, ENSP00000353622⁴	I2D: score=1 STRING: ENSP00000353622
ZNF420	ENSP00000338770⁴	STRING: ENSP00000338770

About this table

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007601	visual perception	IEA	--
GO:0010430	fatty acid omega-oxidation	IDA	19661213
GO:0050896	response to stimulus	IEA	--

CYP4V2 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, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for CYP4V2

1 HMDB Compound for CYP4V2 About this table

Compound	Synonyms	CAS #	PubMed Ids
Heme	(protoporphyrinato)iron (see all 19)	14875-96-8	--

Search CenterWatch for drugs/clinical trials and news about CYP4V2 / CP4V2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 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,
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 CYP4V2 gene:

NM_207352.3

Unigene Cluster for CYP4V2:

Cytochrome P450, family 4, subfamily V, polypeptide 2

Hs.587231 [show with all ESTs]

Unigene Representative Sequence: BX648730

4 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000378802 ENST00000507209(uc003iyw.4) ENST00000513354 ENST00000502665(uc010ism.3)

miRNA Products:		OriGene 3'-UTR Clone: CYP4V2 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CYP4V2
		8/12 QIAGEN miScript miRNA Assays for microRNAs that regulate CYP4V2 (see all 12):
		hsa-miR-142-5p hsa-miR-576-5p hsa-miR-607 hsa-miR-548am hsa-miR-526b hsa-miR-1236 hsa-miR-4306 hsa-miR-216b

		SwitchGear 3'UTR luciferase reporter plasmid: CYP4V2 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CYP4V2 (see all 6) OriGene siRNA: CYP4V2
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CYP4V2
		Sirion Biotech Custom design and validation of potent shRNA sequences against CYP4V2

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CYP4V2 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CYP4V2 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: CYP4V2 (NM_207352)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for CYP4V2
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CYP4V2

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CYP4V2 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat CYP4V2
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CYP4V2
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CYP4V2

Additional cDNA sequence:

AK022114.1 AK122600.1 AK311390.1 AY358619.1 AY422002.1 BC035933.1 BC038095.1 BC041839.1

BC048253.1 BC060857.1 BX648537.1 BX648730.1

10 DOTS entries:

DT.102826597 DT.446328 DT.95232912 DT.444898 DT.101984008 DT.40314264 DT.40113585 DT.86852250

DT.95253746 DT.95264306

24/139 AceView cDNA sequences (see all 139):

BI756123 AW467138 AI186308 AI081600 AI189514 AA886755 AI474341 CA841048

AV727430 AI672659 AW275382 AA918796 BC048253 BU165839 BF726032 AL691654

Z40642 BQ030441 BM708812 CA841312 AW204514 BE326857 W52640 AI916528

GeneLoc Exon Structure

(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

CYP4V2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GAAGAGTGTT

About this image

CYP4V2 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

4 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Skeletal Muscle

Hyoid Arch Muscles

Mononuclear Myocytes

Skeletal Muscle

Mandibular Arch Muscles

Skeletal Muscle

Head Mesenchyme

Diencephalic Ventricular Zone

Neural Tube

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 3 LifeMap Cells

Name

Category

PureStem™ epithelial progenitor E164 (Embryonic Progenitor Cell)

Intermediate Mesoderm, Kidney

PureStem™ progenitor E44 (Embryonic Progenitor Cell)

PureStem™ progenitor F15 (Embryonic Progenitor Cell)

See CYP4V2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CYP4V2

SOURCE GeneReport for Unigene cluster: Hs.587231

UniProtKB/Swiss-Prot: CP4V2_HUMAN, Q6ZWL3

Tissue specificity: Broadly expressed. Detected in heart, brain, placenta, lung, liver, skeletal muscle, kidney,

pancreas, retina, retinal pigment epithelium (RPE) and lymphocytes

SABiosciences Custom PCR Arrays for CYP4V2

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CYP4V2 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat CYP4V2
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CYP4V2
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CYP4V2

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CYP4V2

(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 CYP4V2 gene from 8/23 species (see all 23) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	CYP4V2¹	cytochrome P450, family 4, subfamily V, polypeptide more	65.88(n) 62.99(a)		415121 NM_001001879.1 NP_001001879.1
lizard (Anolis carolinensis)	Reptilia	CYP4V2⁶	--	61(a)	1 ↔ 1	5(112194336-112228370)
African clawed frog (Xenopus laevis)	Amphibia	Xl.10792²	Xenopus laevis CYP4V4 mRNA for Cytochrome P450, complete more	72.97(n)		AB114054.1
zebrafish (Danio rerio)	Actinopterygii	cyp4v7⁶ cyp4v8⁶	cytochrome P450, family 4, subfamily V, polypeptid... cytochrome P450, family 4, subfamily V, polypeptid...	63(a) 58(a)	1 ↔ many 1 ↔ many	14(30845056-30857343) 1(16642201-16654540)
fruit fly (Drosophila melanogaster)	Insecta	Cyp4c3⁶ Cyp4d14⁶ (see all 30)	Cyp4d14 (see all 30)	46(a) 38(a) (see all 30)	possible ortholog possible ortholog (see all 30)	3R(26719683-26726410) X(2067448-2069346)
worm (Caenorhabditis elegans)	Secernentea	cyp-32A1¹	Protein CYP-32A1	53.25(n) 49.02(a)		179156 NM_072608.8 NP_505009.4
thale cress (Arabidopsis thaliana)	eudicotyledons	CYP97B3¹	cytochrome P450 97B3	44.42(n) 31.44(a)		827177 NM_117600.5 NP_193247.2
rice (Oryza sativa)	Liliopsida	Os02g0173100¹	hypothetical protein	41.07(n) 27.68(a)		4328451 NM_001052571.1 NP_001046036.1

ENSEMBL Gene Tree for CYP4V2 (if available)
TreeFam Gene Tree for CYP4V2 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for CYP4V2 gene

CYP4F22² CYP4F3² CYP4F2² CYP4F11² CYP46A1² ENSG00000225607² CYP4B1² CYP3A5²

CYP4X1² TBXAS1² CYP3A43² CYP3A4² CYP3A7² CYP4A22² CYP4A11² CYP4F12²

CYP4Z1²

18/20 SIMAP similar genes for CYP4V2 using alignment to 2 protein entries: CP4V2_HUMAN (see all proteins) (see all similar genes):

CYP3A5 CYP1A1 CYP2C9 CYP4X1 CYP3A43/CYP3A4 CYP4F8

CYP2E1 CYP4F12 CYP4F2 CYP4F22 CYP4F3 CYP2G1P

CYP3A4 CYP4A11 CYP4A22 CYP4F11 CYP4Z1 DKFZp761K058

CYP4V2 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, 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 4 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs1055138^1,2	C,F,A,H	pathogenic	187113041(-)	`GGAAAG/CGGCAC`	3	/L /V	mis¹ us2k¹ trp³		14		MN NS NA CSA WA EA	859
rs119103282^1,2	C	pathogenic	187113107(+)	`GGAAAA/TGGCAG`	3	R W	us2k¹ mis¹		0	--	--	--	--
rs119103285^1,2	C	pathogenic	187113158(+)	`TGGTGA/GGCCAC`	3	S G	mis¹ us2k¹		0	--	--	--	--
rs119103283^1,2	C	pathogenic	187117161(+)	`GGTAAC/TTTTAA`	2	T I	mis¹		0	--	--	--	--
rs149684063^1,2	C	pathogenic	187117196(+)	`CCTCTA/GTGTAC`	2	M V	mis¹		0	--	--	--	--
rs199476189^1,2	C	pathogenic	187117229(+)	`GCCTAG/TGACTT`	2	G *	stg¹		0	--	--	--	--
rs138444697^1,2	C	pathogenic	187130126(+)	`TTGCCC/TGTAGT`	2	R C	mis¹		1		NA	4550
rs199476203^1,2	C	pathogenic	187130127(+)	`TGCCCA/GTAGTG`	2	H R	mis¹		0	--	--	--	--
rs146494374^1,2	C	pathogenic	187131662(+)	`TCTTTA/C/TGTGCA`	3	* S L	stg¹ mis¹		1		NA	4550
rs119103284^1,2	C	pathogenic	187131740(+)	`TCTTCA/GTCCAA`	2	H R	mis¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for CYP4V2 (187112674 - 187134617 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for CYP4V2
1 CNV: 53588
Human Gene Mutation Database (HGMD): CYP4V2

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CYP4V2

DNA2.0 Custom Variant and Variant Library Synthesis for CYP4V2

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

CYP4V2 for disorders           About GeneDecksing

OMIM gene information: 608614
OMIM disorders: 210370
UniProtKB/Swiss-Prot: CP4V2_HUMAN, Q6ZWL3

Defects in CYP4V2 are a cause of Bietti crystalline corneoretinal dystrophy (BCD) [MIM:210370]. BCD is an

autosomal recessive retinal dystrophy characterized by multiple glistening intraretinal crystals scattered over the

fundus, a characteristic degeneration of the retina, and sclerosis of the choroidal vessels, ultimately resulting in

progressive night blindness and constriction of the visual field. Most cases have similar crystals at the

corneoscleral limbus. Clinically, BCD is progressive. Patients develop decreased vision, nyctalopia, and paracentral

scotomata between the 2nd and 4th decade of life. Later, patients develop peripheral visual field loss and marked

visual impairment, usually progressing to legal blindness by the 5th or 6th decade of life

18 diseases for CYP4V2: About MalaCards

bietti crystalline corneoretinal dystrophy pseudovitamin d deficiency rickets pthirus pubis infestation subdural empyema

deep vein thrombosis imperforate anus localized osteosarcoma night blindness

rickets ectropion choroidal sclerosis thrombosis

choroiditis blindness osteosarcoma hermaphroditism

infertility retinitis

3 diseases from the University of Copenhagen DISEASES database for CYP4V2:

Osteosarcoma Night blindness Choroidal sclerosis

Human Genome Epidemiology (HuGE) Navigator: CYP4V2 (6 documents)

Export disorders for CYP4V2 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 CYP4V2 gene, integrated from 9 sources (see all 68):
(articles sorted by number of sources associating them with CYP4V2)

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

Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2. (PubMed id 15042513)^{1, 2, 3, 9} Li A.... Hejtmancik J.F. (2004)
Expression and characterization of CYP4V2 as a fatty acid omega-hydroxylase. (PubMed id 19661213)^{1, 2} Nakano M....Rettie A.E. (2009)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Novel mutations in the CYP4V2 gene associated with Bietti crystalline corneoretinal dystrophy. (PubMed id 16179904)^{1, 9} Shan M....Li Y. (2005)
Genotype phenotype analysis of Bietti's crystalline dystrophy in patients with CYP4V2 mutations. (PubMed id 17962476)^{1, 9} Lai T.Y....Pang C.P. (2007)
Bietti crystalline corneoretinal dystrophy associated with CYP4V2 gene mutations. (PubMed id 17249554)^{1, 9} Nakamura M....Miyake Y. (2006)
Characterization of Bietti crystalline dystrophy patients with CYP4V2 mutations. (PubMed id 16186368)^{1, 9} Lee K.Y....Vithana E.N. (2005)
Screening for mutations in CYP4V2 gene in Japanese patients with Bietti's crystalline corneoretinal dystrophy. (PubMed id 15860296)^{1, 9} Wada Y....Tamai M. (2005)
CYP4V2 mutations in two Japanese patients with Bietti's crystalline dystrophy. (PubMed id 16088246)^{1, 9} Gekka T....Kitahara K. (2005)

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

		AND	OR
Aliases
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: 285440	HGNC: 23198	AceView: CYP4V2	Ensembl:ENSG00000145476	euGenes: HUgn285440
ECgene: CYP4V2	H-InvDB: CYP4V2

(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 CYP4V2	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CYP4V2
NIEHS-SNPs	http://egp.gs.washington.edu/data/cyp4v2/

Intellectual Property for CYP4V2 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for CYP4V2 gene:
Search GeneIP for patents involving CYP4V2

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

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section


	EMD Millipore Custom Antibody & Bulk Services
	EMD Millipore Preclinical / Clinical Development Services
	EMD Millipore Immunoassay Services
	EMD Millipore Target Screening & Profiling Services

	Browse Antibodies		Browse Cell Culture Products
	Browse ELISAs		Browse Flow Cytometry Kits
	Browse Primer Pairs		Browse Kinase Activity Assays/Reagents
	Browse ELISpot Kits/Development Modules		Browse TFB/Immunoprecipitation Assays
	Browse Apoptosis Detection Kits/Reagents		Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents
	Browse DNA Damage/Repair Kits/Reagents		Browse Multiplex/Array Assay Kits/Reagents
	Browse Cell Selection/Detection Kits/Reagents		Browse Secondary Antibodies/Controls/Staining Reagents
	Browse Phosphatase Activity Assays/Reagents		Browse Recombinant/Natural Proteins

	Browse OriGene Antibodies		Browse OriGene shRNA RFPs
	OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CYP4V2		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CYP4V2
	Browse OriGene Protein Over-expression Lysates		Browse OriGene Fluorogenic Cell Assay Kits
	OriGene siRNA for CYP4V2		OriGene 3'-UTR Clone for CYP4V2
	OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CYP4V2		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CYP4V2
	Browse OriGene GFP tagged cDNA clones in CMV expression vector		Browse OriGene MicroRNA Expression Plasmids
	Browse OriGene basic RS shRNAs		Browse OriGene validated miRNA SYBR primer pairs
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells		OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
	OriGene Custom Antibody Services for CYP4V2		OriGene Custom Protein Services for CYP4V2
	OriGene Custom Immunoassay Development

	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat CYP4V2
	QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CYP4V2
	QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CYP4V2
	QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CYP4V2
	QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CYP4V2
	QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CYP4V2

	GenScript Custom Purified and Recombinant Proteins Services for CYP4V2		GenScript cDNA clones with any tag delivered in your preferred vector for CYP4V2
	GenScript Custom Assay Services for CYP4V2		GenScript Custom Superior Antibodies Services for CYP4V2
	GenScript Custom overexpressing Cell Line Services for CYP4V2		CloneReady with Over 120,000 Genes
	Gene Synthesis: Any Gene in Any Vector		Vector-based siRNA and miRNA, Ready for Transfection
	Gene Mutant Library, Variants up to 10^11		Plasmid Preparation
	Custom Peptide Services

Search for Antibodies & Assays

	Regulatory tfbs in CYP4V2 promoter
	Search Chromatin IP Primers for CYP4V2
	RT² qPCR Primer Assay in human, mouse, rat CYP4V2
	Search GNC Networks for CYP4V2
	SABiosciences Custom PCR Arrays for CYP4V2

Search Tocris compounds for CYP4V2

	Browse Sino Biological Proteins and Antibodies
	Browse Sino Biological cDNA Clones
	Antibodies/Proteins Production Services
	Rabbit Monoclonal Antibody Platform
	Bulk Purchasing

Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

	Novus Tissue Slides
	CYP4V2 antibodies
	CYP4V2 proteins
	CYP4V2 lysates

	Search for Antibodies for CYP4V2 at Abcam
	See all of Abcam's Antibodies, Kits and Proteins for CYP4V2
	Custom Antibody / Protein Production Service
	Bulk Purchasing
	Advantages of Rabbit Monoclonal antibodies
	Abcam protocols and scientific support

Browse ProSpec Recombinant Proteins

CYP4V2 Proteins, Antibodies, CLIAs, and ELISAs

Search LifeMap BioReagents cell lines for CYP4V2

	Gene Synthesis
	Protein Engineering
	Variant Library Synthesis
	Codon Optimization
	Protein Production and Purification

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CYP4V2

	SwitchGear 3'UTR luciferase reporter plasmids for CYP4V2
	SwitchGear Promoter luciferase reporter plasmids for CYP4V2

Search ThermoFisher Antibodies for CYP4V2

Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CYP4V2

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for CYP4V2

Sirion Biotech Customized:

	stable knockdown cell line services for CYP4V2
	inducible knockdown cell line services for CYP4V2
	design and validation of potent shRNA sequences against CYP4V2
	adenovirus for potent knockdown of CYP4V2
	adenovirus for overexpression of CYP4V2
	stable overexpressing cell line services for CYP4V2
	inducible overexpressing cell line services for CYP4V2

GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 14 May 2013

View Random Gene

Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 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

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes CYP4V2 gene at Home site.

hostname: 356977-web1.xennexinc.com index build: 106 solr: 1.4

Advanced Search

Export list of displayed genes

CYP4V2 Gene

cytochrome P450, family 4, subfamily V, polypeptide 2

Aliases
for CYP4V2 gene

Summaries
for CYP4V2 gene

Genomic Views
for CYP4V2 gene

Proteins
for CYP4V2 gene

Protein Domains /
Families
for CYP4V2 gene

Function
for CYP4V2 gene

Pathways & Interactions
for CYP4V2 gene

Drugs & Compounds
for CYP4V2 gene

Transcripts
for CYP4V2 gene

Expression
for CYP4V2 gene

Orthologs
for CYP4V2 gene

Paralogs
for CYP4V2 gene

Genomic Variants
for CYP4V2 gene

Disorders / Diseases
for CYP4V2 gene

Publications
for CYP4V2 gene

External Searches for CYP4V2 gene

Genome Databases showing CYP4V2 gene

Other Databases showing CYP4V2 gene

Specialized Databases showing CYP4V2 gene

Intellectual Property
for CYP4V2 gene

Products
for CYP4V2 gene

View Random Gene

Advanced Search

Export list of displayed genes

CYP4V2 Gene

cytochrome P450, family 4, subfamily V, polypeptide 2

Aliasesfor CYP4V2 gene

Summariesfor CYP4V2 gene

Genomic Viewsfor CYP4V2 gene

Proteinsfor CYP4V2 gene

Protein Domains /Familiesfor CYP4V2 gene

Functionfor CYP4V2 gene

Pathways & Interactionsfor CYP4V2 gene

Drugs & Compoundsfor CYP4V2 gene

Transcriptsfor CYP4V2 gene

Expression for CYP4V2 gene

Orthologsfor CYP4V2 gene

Paralogsfor CYP4V2 gene

Genomic Variantsfor CYP4V2 gene

Disorders / Diseasesfor CYP4V2 gene

Publicationsfor CYP4V2 gene

External Searches for CYP4V2 gene

Genome Databases showing CYP4V2 gene

Other Databases showing CYP4V2 gene

Specialized Databases showing CYP4V2 gene

Intellectual Propertyfor CYP4V2 gene

Productsfor CYP4V2 gene

View Random Gene

Aliases
for CYP4V2 gene

Summaries
for CYP4V2 gene

Genomic Views
for CYP4V2 gene

Proteins
for CYP4V2 gene

Protein Domains /
Families
for CYP4V2 gene

Function
for CYP4V2 gene

Pathways & Interactions
for CYP4V2 gene

Drugs & Compounds
for CYP4V2 gene

Transcripts
for CYP4V2 gene

Expression
for CYP4V2 gene

Orthologs
for CYP4V2 gene

Paralogs
for CYP4V2 gene

Genomic Variants
for CYP4V2 gene

Disorders / Diseases
for CYP4V2 gene

Publications
for CYP4V2 gene

Intellectual Property
for CYP4V2 gene

Products
for CYP4V2 gene