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717 C2

717

C2

complement C2

protein-coding

Homo sapiens

基因描述

Type Description
Definition complement C2

研究结论

Date Results Publications
2020-12-19 13:43:00 Complement protein levels and MBL2 polymorphisms are associated with dengue and disease severity. 32913345
2020-11-28 13:11:00 Hereditary Deficiency of the Second Component of Complement: Early Diagnosis and 21-Year Follow-Up of a Family. 32164349
2019-07-06 11:16:00 Logistic regression analyses showed that six C2 single nucleotide polymorphisms had significant associations with the risk of chronic hepatitis B and chronic hepatitis B-related hepatocellular carcinoma among the Korean subjects. Stepwise analysis revealed that causal markers (rs9267665 and rs10947223) were identified among the C2 variants. 29283494
2019-01-05 11:22:00 The pooled ORs for rs551397, rs2274700, rs4151667, rs641153, rs1047286, rs9332739, and rs547154 in the heterozygote model were 0.53, 0.53 , 0.54, 0.48, 1.42, 0.50, and 0.52, respectively. We confirmed the protective role of C2/CFB/CFH polymorphisms in the development of Age-Related Macular Degeneration (AMD), and showed single nucleotide polymorphism in C3 was a high-risk factor for AMD 30179527
2017-12-16 12:11:00 Vag8 binding to human C1-inhibitor (C1-inh) interferes with the binding of C1-inh to C1s, C1r and MASP-2, resulting in the release of active proteases that subsequently cleave C2 and C4 away from the bacterial surface. 28742139

名称对应

Type IDs
Synonymous ARMD14, CO2
Gene
UniProtKB-ID: CO2_HUMAN, A0A0G2JL69_HUMAN, B4DQI1_HUMAN, Q5JP69_HUMAN, Q8N6L6_HUMAN, B4DV48_HUMAN, Q53HP3_HUMAN
UniprotKB: P06681, A0A0G2JL69, B4DQI1, Q5JP69, Q8N6L6, B4DV48, Q53HP3
UniParc: UPI000007054A, UPI000050A6C4, UPI00017A78F4, UPI00039189F9, UPI00017A7DF3, UPI000000DA4D, UPI0001981E10, UPI00017A7728
EMBL: AK300930, AK222537, AL844853, AL671762, CR759782, M15082, KY500774, L09707, X04481, L09708, AK312581, M15549, CR388219, KY500776, AY349611, CR933857, AL662834, CR759784, AL662849, BC043484, AK300892, BX005143, M26301, CH471081, L09706, BC029781, AL645922, AK298311, AK298808, AF019413, KY500771
Ensembl: ENSG00000206372, ENSG00000204364, ENSG00000166278, ENSG00000235696, ENSG00000235017, ENSG00000226560, ENSG00000231543
KO: hsa:717
Nucleutide sequences
EMBL-CDS: AAB67975.1, AAB97607.1, AAA35614.1, BAG60565.1, AAH43484.1, AAQ15273.1, AAA59624.1, BAG62532.1, CAA28169.1, AAA59649.1, BAG60943.1, AQY77241.1, EAX03549.1, AQY77244.1, AQY77246.1, BAG35475.1, AAH29781.1, BAG62560.1, BAD96257.1
Gene_ORFName: hCG_43694
Ensembl_TRS: ENST00000413548, ENST00000618254, ENST00000416252, ENST00000612228, ENST00000549972, ENST00000548973, ENST00000551648, ENST00000383362, ENST00000375510, ENST00000442278, ENST00000548995, ENST00000448206, ENST00000411803, ENST00000615380, ENST00000621558, ENST00000551081, ENST00000299367, ENST00000452323, ENST00000550682, ENST00000550045, ENST00000549997, ENST00000552638, ENST00000548828, ENST00000550363, ENST00000547984, ENST00000614291, ENST00000615801, ENST00000548250, ENST00000548500, ENST00000469372, ENST00000613837, ENST00000618948, ENST00000418949
Protein sequencees
Ensembl_PRO: ENSP00000446728, ENSP00000449286, ENSP00000299367, ENSP00000449715, ENSP00000450387, ENSP00000407961, ENSP00000480739, ENSP00000447632, ENSP00000446639, ENSP00000372853, ENSP00000402278, ENSP00000395683, ENSP00000405800, ENSP00000392322, ENSP00000482616, ENSP00000392835, ENSP00000483231, ENSP00000364660, ENSP00000481651, ENSP00000449366, ENSP00000449823, ENSP00000450180, ENSP00000449345, ENSP00000447458, ENSP00000448602, ENSP00000482072, ENSP00000482188, ENSP00000483004, ENSP00000449940, ENSP00000478351, ENSP00000418923, ENSP00000447134, ENSP00000406190
RefSeq: NP_000054.2, NP_001269387.1, NP_001269388.1, NP_001171534.1, NP_001269386.1, NP_001139375.1
Others
UniRef100: UniRef100_Q53HP3, UniRef100_B4DV48, UniRef100_A0A0G2JL69, UniRef100_B4DQI1, UniRef100_Q8N6L6, UniRef100_P06681
UniRef90: UniRef90_Q8SQ75, UniRef90_P06681, UniRef90_P06681-3, UniRef90_Q8N6L6
UniRef50: UniRef50_Q8SQ75, UniRef50_P06681, UniRef50_P06681-3, UniRef50_Q8N6L6
UniGene: Hs.408903
CCDS: CCDS54991.1, CCDS4728.1, CCDS56416.1

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