Angiopoietin-related protein 7
Angiopoietin-related protein 7 is a protein that in humans is encoded by the ANGPTL7 gene.[5][6][7]
| ANGPTL7 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aliases | ANGPTL7, AngX, CDT6, dJ647M16.1, angiopoietin like 7 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 618517 MGI: 3605801 HomoloGene: 133923 GeneCards: ANGPTL7 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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It is one of the 8 angiopoietin-like proteins.[8]
Rare protein-altering variants in ANGPTL7, including p.Gln175His (0.007 minor allele frequency in Non-Finnish European population) and p.R220C (0.048 minor allele frequency in Finland), lower intraocular pressure and protect against glaucoma.[9]
References
- GRCh38: Ensembl release 89: ENSG00000171819 - Ensembl, May 2017
- GRCm38: Ensembl release 89: ENSMUSG00000028989 - 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.
- Peek R, van Gelderen BE, Bruinenberg M, Kijlstra A (Sep 1998). "Molecular cloning of a new angiopoietinlike factor from the human cornea". Invest Ophthalmol Vis Sci. 39 (10): 1782–8. PMID 9727400.
- Peek R, Kammerer RA, Frank S, Otte-Holler I, Westphal JR (Jan 2002). "The angiopoietin-like factor cornea-derived transcript 6 is a putative morphogen for human cornea". J Biol Chem. 277 (1): 686–93. doi:10.1074/jbc.M105746200. PMID 11682471.
- "Entrez Gene: ANGPTL7 angiopoietin-like 7".
- Angiopoietin-like proteins: a comprehensive look
- Tanigawa, Yosuke; Wainberg, Michael; Karjalainen, Juha; Kiiskinen, Tuomo; Venkataraman, Guhan; Lemmelä, Susanna; Turunen, Joni A.; Graham, Robert R.; Havulinna, Aki S.; Perola, Markus; Palotie, Aarno; Daly, Mark J.; Rivas, Manuel A. (5 May 2020). "Rare protein-altering variants in ANGPTL7 lower intraocular pressure and protect against glaucoma". PLOS Genetics. 16 (5): e1008682. doi:10.1371/journal.pgen.1008682. PMC 7199928. PMID 32369491.
Further reading
- Shau H, Butterfield LH, Chiu R, Kim A (1994). "Cloning and sequence analysis of candidate human natural killer-enhancing factor genes". Immunogenetics. 40 (2): 129–34. doi:10.1007/BF00188176. PMID 8026862. S2CID 7778993.
- Lim YS, Cha MK, Kim HK, Kim IH (1994). "The thiol-specific antioxidant protein from human brain: gene cloning and analysis of conserved cysteine regions". Gene. 140 (2): 279–84. doi:10.1016/0378-1119(94)90558-4. PMID 8144038.
- Stover C, Endo Y, Takahashi M, et al. (2001). "The human gene for mannan-binding lectin-associated serine protease-2 (MASP-2), the effector component of the lectin route of complement activation, is part of a tightly linked gene cluster on chromosome 1p36.2-3". Genes Immun. 2 (3): 119–27. doi:10.1038/sj.gene.6363745. PMID 11426320.
- Zhang Z, Henzel WJ (2005). "Signal peptide prediction based on analysis of experimentally verified cleavage sites". Protein Sci. 13 (10): 2819–24. doi:10.1110/ps.04682504. PMC 2286551. PMID 15340161.
- Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
External links
- ANGPTL7 human gene location in the UCSC Genome Browser.
- ANGPTL7 human gene details in the UCSC Genome Browser.
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