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64423 INF2

64423

INF2

inverted formin, FH2 and WH2 domain containing

protein-coding

Homo sapiens

基因描述

Type Description
Definition inverted formin, FH2 and WH2 domain containing

研究结论

Date Results Publications
2021-02-06 13:58:00 Multiple formin proteins participate in glioblastoma migration. 32727404
2020-09-05 13:56:00 FSGS-Causing INF2 Mutation Impairs Cleaved INF2 N-Fragment Functions in Podocytes. 31924668
2020-05-16 12:44:00 Study used lysine-to-glutamine mutations to map the relevant lysines on actin for INF2 regulation. K50Q- and K61Q-actin, when bound to CAP2, inhibit full-length INF2 but not INF2 lacking inhibitory domain (DID). CAP WH2 domain binds INF2-DID with submicromolar affinity but has weak affinity for actin monomers, while INF2-C-terminal diaphanous autoregulatory domain binds CAP/K50Q-actin 5-fold better than CAP/WT-actin. 31871199
2020-01-18 12:05:00 our results indicated that oxidative stress-mediated HaCaT cells apoptosis could be reversed by Tan IIA treatment via reducing INF2-related mitochondrial stress in a manner dependent on the ERK signaling pathway. 31354004
2019-09-28 12:04:00 The phenotypic feature of the pedigree is autosomal dominant intermediate Charcot-Marie-Tooth disease and focal segmental glomerulosclerosis, which may be attributed to the c.341G>A mutation of the INF2 gene. 31515790

名称对应

Type IDs
Synonymous C14orf151, C14orf173, CMTDIE, FSGS5, pp9484
Gene
UniProtKB-ID: INF2_HUMAN
UniprotKB: Q27J81
UniParc: UPI00000709E0, UPI000156D0FA, UPI000156D0FB
EMBL: AK025709, CH471061, AK290083, BC064828, BC006173, AL832905, DQ395340, BC008756, BX248757, AL583722, DQ395339, DQ395338
Ensembl: ENSG00000203485
KO: hsa:64423
Nucleutide sequences
EMBL-CDS: AAH64828.1, CAD66564.1, AAH06173.1, ABD59344.1, CAH10628.1, BAB15224.1, BAF82772.1, AAH08756.2, ABD59345.1, EAW81872.1, ABD59343.1
Ensembl_TRS: ENST00000330634, ENST00000398337, ENST00000392634
Protein sequencees
Ensembl_PRO: ENSP00000376410, ENSP00000381380, ENSP00000376406
RefSeq: NP_116103.1, NP_071934.3, NP_001026884.3
Others
UniRef100: UniRef100_Q27J81
UniRef90: UniRef90_Q27J81
UniRef50: UniRef50_Q27J81
UniGene: Hs.24956
CCDS: CCDS41999.1, CCDS9989.2, CCDS45173.1

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