Protein-coding gene in the species Homo sapiens
ATG9B |
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Identifiers |
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Aliases | ATG9B, APG9L2, NOS3AS, SONE, autophagy related 9B |
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External IDs | OMIM: 612205; MGI: 2685420; HomoloGene: 72638; GeneCards: ATG9B; OMA:ATG9B - orthologs |
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Gene location (Human) |
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![Chromosome 7 (human)](//upload.wikimedia.org/wikipedia/commons/thumb/9/99/Ideogram_human_chromosome_7.svg/300px-Ideogram_human_chromosome_7.svg.png) | Chr. | Chromosome 7 (human)[1] |
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| Band | 7q36.1 | Start | 151,012,209 bp[1] |
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End | 151,024,499 bp[1] |
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Gene location (Mouse) |
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![Chromosome 5 (mouse)](//upload.wikimedia.org/wikipedia/commons/thumb/c/c0/Ideogram_house_mouse_chromosome_5.svg/260px-Ideogram_house_mouse_chromosome_5.svg.png) | Chr. | Chromosome 5 (mouse)[2] |
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| Band | 5 A3|5 11.49 cM | Start | 24,589,179 bp[2] |
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End | 24,597,141 bp[2] |
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RNA expression pattern |
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Bgee | Human | Mouse (ortholog) |
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Top expressed in | - skin of leg
- skin of abdomen
- right testis
- skin of arm
- left testis
- right uterine tube
- testicle
- anterior pituitary
- buccal mucosa cell
- amniotic fluid
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| Top expressed in | - lip
- esophagus
- skin of back
- skin of external ear
- hair follicle
- lumbar subsegment of spinal cord
- belly cord
- morula
- supraoptic nucleus
- embryo
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| More reference expression data |
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BioGPS | |
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Orthologs |
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Species | Human | Mouse |
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Entrez | | |
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Ensembl | | |
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UniProt | | |
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RefSeq (mRNA) | | |
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RefSeq (protein) | | |
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Location (UCSC) | Chr 7: 151.01 – 151.02 Mb | Chr 5: 24.59 – 24.6 Mb |
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PubMed search | [3] | [4] |
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Wikidata |
View/Edit Human | View/Edit Mouse |
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Autophagy related 9B is a protein that in humans is encoded by the ATG9B gene.[5]
Function
This gene functions in the regulation of autophagy, a lysosomal degradation pathway. This gene also functions as an antisense transcript in the post-transcriptional regulation of the endothelial nitric oxide synthase 3 gene, which has 3' overlap with this gene on the opposite strand. Mutations in this gene and disruption of the autophagy process have been associated with multiple cancers. Alternative splicing results in multiple transcript variants.
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000181652 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000038295 – 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.
- ^ "Entrez Gene: Autophagy related 9B". Retrieved 2017-06-12.
Further reading
- Yamada T, Carson AR, Caniggia I, Umebayashi K, Yoshimori T, Nakabayashi K, Scherer SW (2005). "Endothelial nitric-oxide synthase antisense (NOS3AS) gene encodes an autophagy-related protein (APG9-like2) highly expressed in trophoblast". J. Biol. Chem. 280 (18): 18283–90. doi:10.1074/jbc.M413957200. PMID 15755735.
- Kang MR, Kim MS, Oh JE, Kim YR, Song SY, Kim SS, Ahn CH, Yoo NJ, Lee SH (2009). "Frameshift mutations of autophagy-related genes ATG2B, ATG5, ATG9B and ATG12 in gastric and colorectal cancers with microsatellite instability". J. Pathol. 217 (5): 702–6. doi:10.1002/path.2509. PMID 19197948. S2CID 20532583.
- Han X, Zheng T, Lan Q, Zhang Y, Kilfoy BA, Qin Q, Rothman N, Zahm SH, Holford TR, Leaderer B, Zhang Y (2009). "Genetic polymorphisms in nitric oxide synthase genes modify the relationship between vegetable and fruit intake and risk of non-Hodgkin lymphoma". Cancer Epidemiol. Biomarkers Prev. 18 (5): 1429–38. doi:10.1158/1055-9965.EPI-09-0001. PMC 2965355. PMID 19423521.
- Rajaraman P, Brenner AV, Butler MA, Wang SS, Pfeiffer RM, Ruder AM, Linet MS, Yeager M, Wang Z, Orr N, Fine HA, Kwon D, Thomas G, Rothman N, Inskip PD, Chanock SJ (2009). "Common variation in genes related to innate immunity and risk of adult glioma". Cancer Epidemiol. Biomarkers Prev. 18 (5): 1651–8. doi:10.1158/1055-9965.EPI-08-1041. PMC 2771723. PMID 19423540.
- Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE, Hingorani AD (2009). "Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip". Am. J. Hum. Genet. 85 (5): 628–42. doi:10.1016/j.ajhg.2009.10.014. PMC 2775832. PMID 19913121.
- McGeachie M, Ramoni RL, Mychaleckyj JC, Furie KL, Dreyfuss JM, Liu Y, Herrington D, Guo X, Lima JA, Post W, Rotter JI, Rich S, Sale M, Ramoni MF (2009). "Integrative predictive model of coronary artery calcification in atherosclerosis". Circulation. 120 (24): 2448–54. doi:10.1161/CIRCULATIONAHA.109.865501. PMC 2810344. PMID 19948975.
- Webber JL, Tooze SA (2010). "New insights into the function of Atg9". FEBS Lett. 584 (7): 1319–26. doi:10.1016/j.febslet.2010.01.020. PMID 20083107. S2CID 46372298.
- Rajaraman P, Brenner AV, Neta G, Pfeiffer R, Wang SS, Yeager M, Thomas G, Fine HA, Linet MS, Rothman N, Chanock SJ, Inskip PD (2010). "Risk of meningioma and common variation in genes related to innate immunity". Cancer Epidemiol. Biomarkers Prev. 19 (5): 1356–61. doi:10.1158/1055-9965.EPI-09-1151. PMC 3169167. PMID 20406964.
- Ban HJ, Heo JY, Oh KS, Park KJ (2010). "Identification of type 2 diabetes-associated combination of SNPs using support vector machine". BMC Genet. 11: 26. doi:10.1186/1471-2156-11-26. PMC 2875201. PMID 20416077.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.