호모 사피엔스 종의 단백질 코드 유전자
SDCCAG8 식별자 에일리어스 SDCCAG8 외부 ID OMIM : 613524 MGI : 1924066 HomoloGene : 4839 GeneCard: SDCCAG8 맞춤법 종. 인간 마우스 엔트레즈 앙상블 유니프로트 RefSeq(mRNA) RefSeq(단백질) 장소(UCSC) Chr 1: 243.26 ~243.5 Mb Chr 1: 176.81 ~177.02 Mb PubMed 검색[3] [4] 위키데이터
혈청학적으로 정의된 대장암 항원 8 은 SDCCAG8 [5] [6] 단백질 이다. 이 단백질은 [7] 중심부 에 국소화된다.
임상적 의의 SDCCAG8의 돌연변이는 네프로노파시스 관련 섬모증 을 [7]
상호 작용 SDCCAG8은 네프로노파시스 관련 [7] OFD1 과 직접 상호작용하는 것으로 나타났다.
레퍼런스 ^ a b c ENSG00000276111 GRCh38: 앙상블 릴리즈 89: ENSG000054282, ENSG00000276111 - Ensembl , 2017년 5월^ a b c GRCm38: 앙상블 릴리즈 89: ENSMUSG000026504 - 앙상블 , 2017년 5월^ "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 .^ Scanlan MJ, Chen YT, Williamson B, Gure AO, Stockert E, Gordan JD, Tureci O, Sahin U, Pfreundschuh M, Old LJ (Jun 1998). "Characterization of human colon cancer antigens recognized by autologous antibodies" . Int J Cancer . 76 (5): 652–8. doi :10.1002/(SICI)1097-0215(19980529)76:5<652::AID-IJC7>3.0.CO;2-P PMID 9610721 . ^ "Entrez Gene: SDCCAG8 serologically defined colon cancer antigen 8" .^ a b c Otto EA, Hurd TW, Airik R, et al. (October 2010). "Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy" . Nat. Genet . 42 (10): 840–50. doi :10.1038/ng.662 . PMC 2947620 PMID 20835237 .
추가 정보 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 . Brandenberger R, Wei H, Zhang S, et al. (2005). "Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation". Nat. Biotechnol . 22 (6): 707–16. doi :10.1038/nbt971 . PMID 15146197 . S2CID 27764390 . 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 . Andersen JS, Wilkinson CJ, Mayor T, et al. (2003). "Proteomic characterization of the human centrosome by protein correlation profiling". Nature . 426 (6966): 570–4. Bibcode :2003Natur.426..570A . doi :10.1038/nature02166 . PMID 14654843 . S2CID 4427303 . Kenedy AA, Cohen KJ, Loveys DA, et al. (2003). "Identification and characterization of the novel centrosome-associated protein CCCAP". Gene . 303 : 35–46. doi :10.1016/S0378-1119(02)01141-1 . PMID 12559564 . 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. doi :10.1073/pnas.242603899 PMC 139241 PMID 12477932 . Zhang QH, Ye M, Wu XY, et al. (2001). "Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells" . Genome Res . 10 (10): 1546–60. doi :10.1101/gr.140200 . PMC 310934 PMID 11042152 .
