| ANGPTL7 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | ANGPTL7, AngX, CDT6, dJ647M16.1, angiopoietin like 7 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 618517 MGI: 3605801 HomoloGene: 133923 GeneCards: ANGPTL7 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Angiopoietin-related protein 7 is a protein that in humans is encoded by the ANGPTL7 gene.[5][6][7]
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
- 1 2 3 GRCh38: Ensembl release 89: ENSG00000171819 - Ensembl, May 2017
- 1 2 3 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. hdl:2066/121088. PMID 11682471.
- ↑ "Entrez Gene: ANGPTL7 angiopoietin-like 7".
- ↑ Angiopoietin-like proteins: a comprehensive look
- ↑ Tanigawa Y, Wainberg M, Karjalainen J, Kiiskinen T, Venkataraman G, Lemmelä S, Turunen JA, Graham RR, Havulinna AS, Perola M, Palotie A, Daly MJ, Rivas MA (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. S2CID 23496123.
- 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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