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90411 MCFD2

90411

MCFD2

multiple coagulation factor deficiency 2

protein-coding

Homo sapiens

基因描述

Type Description
Definition multiple coagulation factor deficiency 2

研究结论

Date Results Publications
2019-04-06 10:21:00 that Multiple coagulation factor deficiency protein 2 promotes cancer metastasis by regulating lectin mannose binding 1 and level of galactoside-binding soluble 3 binding protein expression levels 29679592
2018-09-15 10:17:00 Combined deficiency of factors V and VIII by chance coinheritance of parahaemophilia and haemophilia A, but not by mutations of either LMAN1 or MCFD2 29082580
2015-08-01 10:32:00 A novel missense mutation, namely Asp81Ala in exon 3 of MCFD2 gene, is firstly reported and described as a cause of combined FV and FVIII deficiency in a Chinese family. 25354775
2014-03-22 10:29:00 Studies indicate that the LMAN1-CRD contains distinct, separable binding sites for both its partner protein MCFD2 and the cargo proteins FV/FVIII. 23852824
2013-12-21 10:48:00 Results indicate the biological roles of MCFD2 in both vertebrates and invertebrates. 23660967

名称对应

Type IDs
Synonymous F5F8D, F5F8D2, LMAN1IP, SDNSF
Gene
UniProtKB-ID: MCFD2_HUMAN, B4DF17_HUMAN
UniprotKB: Q8NI22, B4DF17
UniParc: UPI00002083B7, UPI00017A6FAA, UPI0001C2BF9B, UPI000005275E
EMBL: BC037845, AF475284, AK292127, AK293889, AL833900, AC093732, BC040357, AC016722, AF537214, CH471053, CR749562
Ensembl: ENSG00000180398
KO: hsa:90411
Nucleutide sequences
EMBL-CDS: CAD38756.1, CAH18359.1, AAH37845.1, EAX00232.1, AAM28465.1, AAY15013.1, EAX00230.1, AAH40357.1, EAX00231.1, AAP23162.1, BAF84816.1, EAX00233.1, BAG57278.1
Ensembl_TRS: ENST00000409218, ENST00000409973, ENST00000409913, ENST00000409105, ENST00000409147, ENST00000409800, ENST00000412438, ENST00000319466, ENST00000444761, ENST00000409207
Protein sequencees
Ensembl_PRO: ENSP00000317271, ENSP00000386386, ENSP00000387082, ENSP00000386941, ENSP00000386261, ENSP00000386279, ENSP00000394647, ENSP00000387202, ENSP00000386651, ENSP00000402717
RefSeq: NP_001164979.1, NP_001164980.1, NP_001164978.1, NP_001164981.1, NP_001164982.1, NP_644808.1, NP_001164977.1
Others
UniRef100: UniRef100_B4DF17, UniRef100_Q8NI22
UniRef90: UniRef90_A0A2I3LQC0, UniRef90_Q8NI22
UniRef50: UniRef50_A0A2I3LQC0, UniRef50_Q8NI22
UniGene: Hs.662152
CCDS: CCDS54354.1, CCDS54355.1, CCDS33192.1

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