例如:"NBL1", "4681", "drought"
收藏
55033 FKBP14

55033

FKBP14

FKBP prolyl isomerase 14

protein-coding

Homo sapiens

基因描述

Type Description
Definition FKBP prolyl isomerase 14

研究结论

Date Results Publications
2020-11-21 13:16:00 The novel missense mutation Met48Lys in FKBP22 changes its structure and functions. 31949249
2020-02-08 11:17:00 This patient points out the existence of a wider phenotypic spectrum of FKBP14-kEDS to include early onset muscle disease. 30561154
2018-05-19 11:27:00 FKBP14 may act as an oncogene through suppressing apoptosis and promoting motility in human cervical carcinogenesis. 28731139
2018-02-10 10:43:00 Genetic studies showed that the patient harboured a homozygous mutation (c.362dupC p.Glu122Argfs*7) in the FKBP14 gene, confirming kyphoscoliotic EDS related to this gene. 27905128
2018-01-13 12:53:00 FKBP14 may act as an oncogene in osteosarcoma via suppressing apoptosis and promoting invasion and adhesion in osteosarcoma carcinogenesis 27223089

名称对应

Type IDs
Synonymous EDSKMH, EDSKSCL2, FKBP22, IPBP12
Gene
UniProtKB-ID: FKB14_HUMAN, A0A090N7V8_HUMAN
UniprotKB: Q9NWM8, A0A090N7V8
UniParc: UPI0000035974
EMBL: BC005206, CH471073, AK000738, AACC02000087, AY358643
Ensembl: ENSG00000106080
KO: hsa:55033
Nucleutide sequences
EMBL-CDS: AAQ89006.1, AAH05206.1, BAA91351.1, EAW93929.1, EAL24457.1
Gene_ORFName: UNQ322/PRO381, tcag7.681, hCG_38314
Ensembl_TRS: ENST00000222803
Protein sequencees
Ensembl_PRO: ENSP00000222803
RefSeq: NP_060416.1
Others
UniRef100: UniRef100_Q9NWM8
UniRef90: UniRef90_Q9NWM8
UniRef50: UniRef50_Q9NWM8
UniGene: Hs.390838
CCDS: CCDS5423.1

全选

{{proteinIndex+1}}
mRNA Protein UniprotKB Description
Refseq {{protein.nucleotideVersion}}

Ensembl: {{protein.nucleotideEnsembl}}

{{protein.proteinVersion}}

Ensembl: {{protein.proteinEnsembl}}

{{uniprot}}
Definition: {{{protein.definition}}}

Transcript Veriant:{{protein.transcriptVeriant}}

Status: {{protein.status}}

Location ( {{protein.positionStart}}..{{protein.positionEnd}} )

暂无数据

研究热度

热点单位
排名 科研单位 文献
{{affIndex+1}}

{{aff.value}}

{{aff.size}}

目前还没有研究热点单位

热点人员
排名 研究人员 文献
{{authorIndex+1}}

{{author.value}}

{{author.size}}

目前还没有研究热点人员