Property Summary

NCBI Gene PubMed Count 34
PubMed Score 46.88
PubTator Score 45.87

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Disease log2 FC p
cutaneous lupus erythematosus -1.800 2.3e-02
periodontitis -1.700 2.0e-10
medulloblastoma, large-cell 1.400 2.1e-05
adult high grade glioma 1.100 5.4e-04
ovarian cancer 1.200 6.6e-13

Gene RIF (3)

PMID Text
22612346 We describe two children with superficial epidermolytic ichthyosis confirmed by genetic testing, including one with a novel mutation.
17408392 novel H1 domain mutation in a family with icthyosis bullosa Siemens
12598329 influence of keratinocyte activation, proliferation, and keratinization on K2e expression in samples of cutaneous and oral lesions (keratin K2e)

AA Sequence

MSCQISCKSRGRGGGGGGFRGFSSGSAVVSGGSRRSTSSFSCLSRHGGGGGGFGGGGFGSRSLVGLGGTK      1 - 70
SISISVAGGGGGFGAAGGFGGRGGGFGGGSSFGGGSGFSGGGFGGGGFGGGRFGGFGGPGGVGGLGGPGG     71 - 140
FGPGGYPGGIHEVSVNQSLLQPLNVKVDPEIQNVKAQEREQIKTLNNKFASFIDKVRFLEQQNQVLQTKW    141 - 210
ELLQQMNVGTRPINLEPIFQGYIDSLKRYLDGLTAERTSQNSELNNMQDLVEDYKKKYEDEINKRTAAEN    211 - 280
DFVTLKKDVDNAYMIKVELQSKVDLLNQEIEFLKVLYDAEISQIHQSVTDTNVILSMDNSRNLDLDSIIA    281 - 350
EVKAQYEEIAQRSKEEAEALYHSKYEELQVTVGRHGDSLKEIKIEISELNRVIQRLQGEIAHVKKQCKNV    351 - 420
QDAIADAEQRGEHALKDARNKLNDLEEALQQAKEDLARLLRDYQELMNVKLALDVEIATYRKLLEGEECR    421 - 490
MSGDLSSNVTVSVTSSTISSNVASKAAFGGSGGRGSSSGGGYSSGSSSYGSGGRQSGSRGGSGGGGSISG    491 - 560
GGYGSGGGSGGRYGSGGGSKGGSISGGGYGSGGGKHSSGGGSRGGSSSGGGYGSGGGGSSSVKGSSGEAF    561 - 630
GSSVTFSFR                                                                 631 - 639
//

Text Mined References (39)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25416956 2014 A proteome-scale map of the human interactome network.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23580065 2013 Shotgun proteomics reveals specific modulated protein patterns in tears of patients with primary open angle glaucoma naïve to therapy.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
22612346 Superficial epidermolytic ichthyosis: a report of two families.
21630459 2011 Proteomic characterization of the human sperm nucleus.
21269460 2011 Initial characterization of the human central proteome.
19946888 2010 Defining the membrane proteome of NK cells.
19199708 2009 Proteomic analysis of human parotid gland exosomes by multidimensional protein identification technology (MudPIT).
18691976 2008 Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17408392 2007 A novel H1 domain mutation in the keratin 2 gene in a Japanese family with ichthyosis bullosa of Siemens.
17373842 2007 HDM2-binding partners: interaction with translation elongation factor EF1alpha.
16831889 2006 New consensus nomenclature for mammalian keratins.
16541075 2006 The finished DNA sequence of human chromosome 12.
15949009 2005 Ichthyosis bullosa of Siemens: its correct diagnosis facilitated by molecular genetic testing.
15737202 2005 Suprabasal induction of ornithine decarboxylase in adult mouse skin is sufficient to activate keratinocytes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
12598329 2003 Expression of keratin K2e in cutaneous and oral lesions: association with keratinocyte activation, proliferation, and keratinization.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11531804 2001 New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens.
11167982 2000 A novel mutation in the 2B domain of keratin 2e causing ichthyosis bullosa of Siemens.
10688369 2000 Hot spot mutations in keratin 2e suggest a correlation between genotype and phenotype in patients with ichthyosis bullosa of Siemens.
10620137 2000 A novel asparagine-->aspartic acid mutation in the rod 1A domain in keratin 2e in a Japanese family with ichthyosis bullosa of Siemens.
10564334 1999 Ichthyosis bullosa of Siemens resulting from a novel missense mutation near the helix termination motif of the keratin 2e gene.
10233323 1999 Ichthyosis bullosa of Siemens: report of a family with evidence of a keratin 2e mutation, and a review of the literature.
10233306 1999 Ontogeny and regional variability of keratin 2e (K2e) in developing human fetal skin: a unique spatial and temporal pattern of keratin expression in development.
10084318 1999 A novel mutation in the 1A domain of keratin 2e in ichthyosis bullosa of Siemens.
9833038 1998 A glutamate to lysine mutation at the end of 2B rod domain of keratin 2e gene in ichthyosis bullosa of Siemens.
9804344 1998 Genomic organization and fine mapping of the keratin 2e gene (KRT2E): K2e V1 domain polymorphism and novel mutations in ichthyosis bullosa of Siemens.
9204966 1997 A novel threonine --> proline mutation at the end of 2B rod domain in the keratin 2e chain in ichthyosis bullosa of Siemens.
9036938 1997 A new keratin 2e mutation in ichthyosis bullosa of Siemens.
8999895 1997 Direct evidence that involucrin is a major early isopeptide cross-linked component of the keratinocyte cornified cell envelope.
8077693 1994 Ichthyosis bullosa of Siemens is caused by mutations in the keratin 2e gene.
7524919 1994 Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens.
7521371 1994 Ichthyosis bullosa of Siemens--a disease involving keratin 2e.
1380918 1992 Characterization of human cytokeratin 2, an epidermal cytoskeletal protein synthesized late during differentiation.