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3849 KRT2

3849

KRT2

keratin 2

protein-coding

Homo sapiens

基因描述

Type Description
Definition keratin 2

研究结论

Date Results Publications
2021-02-27 13:48:00 First Case of KRT2 Epidermolytic Nevus and Novel Clinical and Genetic Findings in 26 Italian Patients with Keratinopathic Ichthyoses. 33081034
2020-12-12 13:26:00 Serum lipids, retinoic acid and phenol red differentially regulate expression of keratins K1, K10 and K2 in cultured keratinocytes. 32179842
2017-01-28 11:20:00 Report genetic/clinical spectrum of KRT2 mutations in keratinopathic ichthyosis. 26581228
2014-03-01 10:42:00 We describe two children with superficial epidermolytic ichthyosis confirmed by genetic testing, including one with a novel mutation. 22612346
2010-01-21 00:00:00 novel H1 domain mutation in a family with icthyosis bullosa Siemens 17408392

名称对应

Type IDs
Synonymous CK-2e, K2e, KRT2A, KRT2E, KRTE
Gene
UniProtKB-ID: K22E_HUMAN
UniprotKB: P35908
UniParc: UPI0000367804
EMBL: AC055716, M99061, AC055715, BC099643, AF019084, BC096294, BC099644
Ensembl: ENSG00000172867
KO: hsa:3849
Nucleutide sequences
EMBL-CDS: AAH99644.1, AAH96294.1, AAB81946.1, AAH99643.1, AAC83410.1
Ensembl_TRS: ENST00000309680
Protein sequencees
Ensembl_PRO: ENSP00000310861
RefSeq: NP_000414.2
Others
UniRef100: UniRef100_P35908
UniRef90: UniRef90_P35908
UniRef50: UniRef50_P35908
UniGene: Hs.707
CCDS: CCDS8835.1

全选

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