CYP4V2

CYP4V2
Identifiers
Aliases	CYP4V2, BCD, CYP4AH1, cytochrome P450 family 4 subfamily V member 2
External IDs	OMIM: 608614; MGI: 2142763; HomoloGene: 133054; GeneCards: CYP4V2; OMA:CYP4V2 - orthologs
EC number	1.14.14.79
Gene location (Human)
Chr.	Chromosome 4 (human)
End	186,213,463 bp
Gene location (Mouse)
Chr.	Chromosome 8 (mouse)
End	45,786,253 bp
RNA expression pattern
	Top expressed in
	mucosa of ileum; ; liver; ; pancreatic epithelial cell; ; right lobe of liver; ; jejunal mucosa; ; retinal pigment epithelium; ; cardiac muscle tissue of right atrium; ; islet of Langerhans; ; gallbladder; ; right adrenal cortex;
	Top expressed in
	left lobe of liver; ; jejunum; ; intestinal villus; ; epithelium of lens; ; Ileal epithelium; ; duodenum; ; Paneth cell; ; olfactory epithelium; ; vestibular membrane of cochlear duct; ; sciatic nerve;
	More reference expression data
	n/a
Gene ontology
Molecular function	metal ion binding; iron ion binding; oxidoreductase activity; heme binding; oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen; monooxygenase activity;
Cellular component	integral component of membrane; endoplasmic reticulum membrane; endoplasmic reticulum; membrane;
Biological process	response to stimulus; sterol metabolic process; fatty acid omega-oxidation; visual perception; retinoid metabolic process; lipid metabolism;
	Sources:Amigo / QuickGO
Orthologs
	285440
	102294
	ENSG00000145476
	ENSMUSG00000079057
	Q6ZWL3
	Q9DBW0
	NM_207352
	NM_133969
	NP_997235
	NP_598730
	Wikidata
View/Edit Human	View/Edit Mouse

Cytochrome P450 4V2 is a protein that in humans is encoded by the CYP4V2 gene.^[5]^[6]

Mutations are associated with Bietti's crystalline dystrophy and retinitis pigmentosas.^[7]^[8]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000145476 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000079057 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Li A, Jiao X, Munier FL, Schorderet DF, Yao W, Iwata F, Hayakawa M, Kanai A, Shy Chen M, Alan Lewis R, Heckenlively J, Weleber RG, Traboulsi EI, Zhang Q, Xiao X, Kaiser-Kupfer M, Sergeev YV, Hejtmancik JF (Apr 2004). "Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2". Am J Hum Genet. 74 (5): 817–26. doi:10.1086/383228. PMC 1181977. PMID 15042513.
^ "Entrez Gene: CYP4V2 cytochrome P450, family 4, subfamily V, polypeptide 2".
^ Wang, Y; Guo, L; Cai, SP; Dai, M; Yang, Q; Yu, W; Yan, N; Zhou, X; Fu, J; Guo, X; Han, P; Wang, J; Liu, X (2012). "Exome Sequencing Identifies Compound Heterozygous Mutations in CYP4V2 in a Pedigree with Retinitis Pigmentosa". PLOS ONE. 7 (5): e33673. Bibcode:2012PLoSO...733673W. doi:10.1371/journal.pone.0033673. PMC 3365069. PMID 22693542.
^ Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, Fahim AT, Daiger SP, Weleber RG (1993). "Nonsyndromic Retinitis Pigmentosa Overview". PMID 20301590. {{cite journal}}: Cite journal requires |journal= (help)

Jiao X, Munier FL, Iwata F, et al. (2000). "Genetic linkage of Bietti crystallin corneoretinal dystrophy to chromosome 4q35". Am. J. Hum. Genet. 67 (5): 1309–13. doi:10.1016/S0002-9297(07)62960-7. PMC 1288572. PMID 11001583.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
Wada Y, Itabashi T, Sato H, et al. (2005). "Screening for mutations in CYP4V2 gene in Japanese patients with Bietti's crystalline corneoretinal dystrophy". Am. J. Ophthalmol. 139 (5): 894–9. doi:10.1016/j.ajo.2004.11.065. PMID 15860296.
Gekka T, Hayashi T, Takeuchi T, et al. (2005). "CYP4V2 mutations in two Japanese patients with Bietti's crystalline dystrophy". Ophthalmic Res. 37 (5): 262–9. doi:10.1159/000087214. PMID 16088246. S2CID 24445691.
Shan M, Dong B, Zhao X, et al. (2006). "Novel mutations in the CYP4V2 gene associated with Bietti crystalline corneoretinal dystrophy". Mol. Vis. 11: 738–43. PMID 16179904.
Lee KY, Koh AH, Aung T, et al. (2005). "Characterization of Bietti crystalline dystrophy patients with CYP4V2 mutations". Invest. Ophthalmol. Vis. Sci. 46 (10): 3812–6. doi:10.1167/iovs.05-0378. PMID 16186368.
Jin ZB, Ito S, Saito Y, et al. (2006). "Clinical and molecular findings in three Japanese patients with crystalline retinopathy". Jpn. J. Ophthalmol. 50 (5): 426–31. doi:10.1007/s10384-006-0350-0. PMID 17013694. S2CID 189767362.
Nakamura M, Lin J, Nishiguchi K, et al. (2006). "Bietti Crystalline Corneoretinal Dystrophy Associated with CYP4V2 Gene Mutations". Retinal Degenerative Diseases. Advances in Experimental Medicine and Biology. Vol. 572. pp. 49–53. doi:10.1007/0-387-32442-9_8. ISBN 978-0-387-28464-4. PMID 17249554.
Lai TY, Ng TK, Tam PO, et al. (2007). "Genotype phenotype analysis of Bietti's crystalline dystrophy in patients with CYP4V2 mutations". Invest. Ophthalmol. Vis. Sci. 48 (11): 5212–20. doi:10.1167/iovs.07-0660. PMID 17962476.

This article on a gene on human chromosome 4 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000145476 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000079057 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid15042513-5] Li A, Jiao X, Munier FL, Schorderet DF, Yao W, Iwata F, Hayakawa M, Kanai A, Shy Chen M, Alan Lewis R, Heckenlively J, Weleber RG, Traboulsi EI, Zhang Q, Xiao X, Kaiser-Kupfer M, Sergeev YV, Hejtmancik JF (Apr 2004). "Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2". Am J Hum Genet. 74 (5): 817–26. doi:10.1086/383228. PMC 1181977. PMID 15042513.

[entrez-6] "Entrez Gene: CYP4V2 cytochrome P450, family 4, subfamily V, polypeptide 2".

[pmid.22693542-7] Wang, Y; Guo, L; Cai, SP; Dai, M; Yang, Q; Yu, W; Yan, N; Zhou, X; Fu, J; Guo, X; Han, P; Wang, J; Liu, X (2012). "Exome Sequencing Identifies Compound Heterozygous Mutations in CYP4V2 in a Pedigree with Retinitis Pigmentosa". PLOS ONE. 7 (5): e33673. Bibcode:2012PLoSO...733673W. doi:10.1371/journal.pone.0033673. PMC 3365069. PMID 22693542.

[pmid20301590-8] Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, Fahim AT, Daiger SP, Weleber RG (1993). "Nonsyndromic Retinitis Pigmentosa Overview". PMID 20301590. {{cite journal}}: Cite journal requires |journal= (help)

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v t e Cytochromes, oxygenases: cytochrome P450 (Most belong to EC 1.14)
CYP1	A1 A2 A5 B1
CYP2	A6 A7 A13 B6 C8 C9 C18 C19 D6 E1 F1 J2 R1 S1 U1 W1
CYP3 (CYP3A)	A4 A5 A7 A37 A43
CYP4	A11 A22 B1 F2 F3 F8 F11 F12 F22 V2 X1 Z1
CYP5-20	CYP5 (A1) CYP6 (G1, M2) CYP7 (A1, B1) CYP8 (A1, B1) CYP9 CYP10 CYP11 (A1, A2, B1, B2, B3, C1) CYP12 CYP13 CYP14 CYP15 CYP16 CYP17 (A1) CYP18 CYP19 (A1) CYP20 (A1)
CYP21-49	CYP21 (A2) CYP22 (A1) CYP23 CYP24 (A1) CYP25 CYP26 (A1, B1, C1) CYP27 (A1, B1, C1) CYP28 (A1) CYP29 CYP35 (B1) CYP39 (A1) CYP46 (A1)
CYP51-69	CYP51 (A1, F1) CYP52 CYP53 A1 CYP55 A1 CYP56 A1 CYP61
CYP71-99	CYP71 (C1, C2, C3, C4, Z6, AJ4, AV1, BA1) CYP72A1 CYP73A1 CYP74 (D1) CYP75 (A1, B1) CYP76 (B6, M7) CYP79 (A1, A2, B1, B2, B3, D1, D2, D3, D4) CYP80 (A1, B1, G2) CYP81 (E1, E3, E7, E9) CYP88D6 CYP90C1 CYP93E1 CYP97C1 CYP99A3
CYP101-281	CYP101A1 CYP102A1 CYP105 A1 D7 CYP106A2 CYP107 A1 G1 CYP109 B1 E1 CYP111 CYP113A1 CYP119A1 CYP123 CYP125A1 CYP139 CYP147 CYP152 A1 B1 CYP154C3 CYP158A CYP161C CYP170 A1 B1 CYP176A1 CYP183A CYP197 CYP199A2 CYP255A
CYP301-499	CYP303A1 CYP305 M2 Halloween genes ( CYP302A1, CYP306A1, CYP307A1, CYP307A2, CYP314A1, CYP315A1) CYP318A1
CYP501-699	CYP503 CYP504B1
CYP701-999	CYP704B22 CYP710 CYP720A1

CYP4V2

References

Further reading