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2257 FGF12

2257

FGF12

fibroblast growth factor 12

protein-coding

Homo sapiens

基因描述

Type Description
Definition fibroblast growth factor 12

研究结论

Date Results Publications
2020-12-05 13:00:00 Defining the phenotype of FHF1 developmental and epileptic encephalopathy. 32645220
2020-05-16 11:00:00 Trio-based whole exome sequencing of the patient revealed no pathogenic single nucleotide variants causing epilepsy, but confirmed a 3q28q29 duplication involving FGF12, which encodes fibroblast growth factor 12. 31311986
2020-03-14 11:18:00 Serum FGF21 levels were significantly elevated in Kawasaki disease (KD) patients, especially with coronary artery lesions (CALs). They were associated with levels of leukomonocytes %, CRP and albumin in KD patients. These observations indicate that high level of FGF21 may be a compensatory mechanism that plays a protective role in the antioxidant/ anti-inflammatory response during acute phase of KD. 31478099
2018-06-09 11:15:00 FGF12 has a potential role in ESCC. 29049013
2018-02-10 10:35:00 In this study, the authors observed that rs1460922 of FGF12 was significantly associated with VT and identified that a de novo variation of FGF12 may be an important genetic risk factor for the pathogenesis of VT. 28775062

名称对应

Type IDs
Synonymous EIEE47, FGF12B, FHF1
Gene
UniProtKB-ID: FGF12_HUMAN
UniprotKB: P61328
UniParc: UPI00000E8058, UPI0000003FDD
EMBL: AK312513, U76381, BC022524, AK125307, U66197, AK313671, CH471052
Ensembl: ENSG00000114279
KO: hsa:2257
Nucleutide sequences
EMBL-CDS: AAB18913.1, AAB18786.3, BAG36423.1, AAH22524.1, BAG35414.1, BAG54181.1, EAW78084.1
Ensembl_TRS: ENST00000445105, ENST00000450716, ENST00000454309
Protein sequencees
Ensembl_PRO: ENSP00000397635, ENSP00000413496, ENSP00000393686
RefSeq: XP_006713601.1, NP_001364222.1, XP_024309163.1, NP_001364223.1, NP_001364221.1, NP_066360.1, XP_005247284.1, NP_004104.3
Others
UniRef100: UniRef100_P61328
UniRef90: UniRef90_P61328
UniRef50: UniRef50_P70377
UniGene: Hs.390250
CCDS: CCDS3301.1, CCDS46983.1

全选

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