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Gene Model: Krt2

NomenclatureGenomic Location
SymbolKrt2Chromosome2
NameKeratin, type II
cytoskeletal 2 epidermal
Linkage mapunknown
SpeciesDracomimus familiarisGenome CoordinatesChr2: 77 Mbp

Molecular Function

Probably contributes to terminal cornification. Associated with keratinocyte activation, proliferation and keratinization.

Molecular Function Terms:
structural molecule activity

Human Disease Association

Defects in KRT2 are a cause of ichthyosis bullosa of Siemens (IBS) [MIM:146800]. IBS is a rare autosomal dominant skin disorder displaying a type of epidermolytic hyperkeratosis characterized by generalized erythema and extensive blistering from birth. Large, dark gray hyperkeratoses are observed in later weeks. The skin of IBS patients is unusually fragile and has a tendency to shed the outer layers of the epidermis, producing localized denuded areas (molting effect). IBS usually improves with age so that in most middle-aged patients the hyperkeratosis and keratotic lichenification is limited to the flexural folds of the major joints.

Predicted Transcript
     1 ATGAGCCGGCAGTCCTACAGTATCAGGGCAGGCAGTGGAGGAGGCAGTGCTGGCAAAGGT
    61 TTCAGTACAGCCTCTGCCATTATCCCAAGTGCCAATAGATCTGGTTTCAGTTCACTTTCT
   121 CTTGCCCGAGCTGGTGGAGGTGGTCTTGGTGGTGGAGGTGGTTTGGGAAGGATTACTATT
   181 GGTAGTGGTGGCGGTGGTGGCGGCGGCTTTGGCAGCAGGAGTCTTTATGGCCTTGGTGGT
   241 GCTAAAAGAATATCAGTCAGTAGAAGTAGTAACCTACGCAGTGGATTCGGTGCTGGTGGA
   301 GGTGGAGGATTTGGTTTTGGTAGCGGATCTGGCAGTGCATTCGGTTTTGGTGCAATAGCT
   361 GGAGGTAGTGGCTTTGGTTTTGGTGGTGGTGGTGGAGGAGGAGGTGGTGGTGGATATGGT
   421 TTTGGCTTTGGTGGTGGTGTTATACCTGGGGGTGGCACCATCCAAGAAGTGACCATTAAC
   481 CAAAGTCTCCTAGCTCCGCTCAACTTAGAAATTGATCCAGCCATCCAAGAGGTCCGGAAA
   541 GAAGAGAAGGAACAAATTAAAACTCTCAACAACAAATTTGCCTCTTTCATTGACAAGGTT
   601 CGCTTTCTGGAACAGCAGAACAAAGTTTTGGAGACCAAGTGGACCCTTTTGCAGGACCAA
   661 GGTTTTAAAACTGGTGCAAACAAGGGCAACCTTGATCCGCTCTTTGAAGCTTACATCAAT
   721 AACCTAAGGAAACAGCTCAATGGCCTGATCAATGAGAAAGGACGACTGGATGGGGAGCTT
   781 AGGAACATGCAAGATATTGTTGAAGACTTCAAGACCAAATACGAAGAGGAAATCAATCGA
   841 CGTACCTCTGCTGAAAATGAGTTTGTTATGCTCAAGAAGGATGTGGATGCTGCATACATG
   901 AACAAAGTAGAGTTGGAAGCCAAAGTGGATTCCCTAACTGATGAGCTCAATTTCCTGCGG
   961 GCCCTCTATGAAGCGGAGTTGGCTCAATTGCAGGCACAGATGTCTGATACTGCTGTCATC
  1021 CTATCTATGGATAATAACAGGGATTTGGACCTAAATGGTATTGTATCTGAAGTGAAAGCA
  1081 CAATATGAAGACATTGCCAACAGGAGTCGTGCAGAAGCAGAGGCCTGGTACCAAACCAAG
  1141 TTTGAGGAACTCCAAGCAACTGCAGGGAGGCATGGTGATGATCTACGAAATACTAAAGGA
  1201 GAAATTTCGGAGCTCAATAGACTGATTCAGAGGATACGGGCAGAAATTGAAAATGCCAGA
  1261 AACCAGTGTGCCAATATGCAGACAGCCATTGCAGATGCTGAGGATCGAGGCGAGTTGGCT
  1321 CTCAAAGATGCCAGAGCCAAGCTCATTGAGTTGGAGGAGGCTCTCCAGAAAGCAAAGGAA
  1381 GAAATGACCCGGCTGTTGAGGGAGTACCAAGAGCTCATGAATGTCAAGCTGGCTCTGGAT
  1441 ATTGAGATTGCCACATACCGAAAGCTGCTGGAAGGCGAAGAGAGCAGGCTCTTTGGAGAG
  1501 GGAGTTAATCCTGTCAGTATCTCTGTTGTGAGTACCAGTGCTGGAGGTGGCGGCGGCGGC
  1561 GGAGGTGGTCTTGGAGGCGGTCTTGGAGGAGGACTTGGAGGTCTTGGTCTTGGTCTTGGA
  1621 GGAGGCGGTTTTGGTCTTGGAAGTGGTTTGAGTTTTGGAGGAGGAGGTGGCAGCCTTGGA
  1681 AGTGGACTTAGTTTTGGTTATGGTGGTGGCAGTGGTGGGGGGTTGGGTTTTGGAGGAGGA
  1741 AGTTTCAGTTCTGGAAGTGGGAAAGGCATTGGGGCAGGAAGTAGTTCTGGTGTGAAAATT
  1801 ATCTCCAAAACCTCTACTAGCCAAAAGAGTATCAAAAGCTAA

Predicted Protein Product
MSRQSYSIRAGSGGGSAGKGFSTASAIIPSANRSGFSSLSLARAGGGGLGGGGGLGRITI
GSGGGGGGGFGSRSLYGLGGAKRISVSRSSNLRSGFGAGGGGGFGFGSGSGSAFGFGAIA
GGSGFGFGGGGGGGGGGGYGFGFGGGVIPGGGTIQEVTINQSLLAPLNLEIDPAIQEVRK
EEKEQIKTLNNKFASFIDKVRFLEQQNKVLETKWTLLQDQGFKTGANKGNLDPLFEAYIN
NLRKQLNGLINEKGRLDGELRNMQDIVEDFKTKYEEEINRRTSAENEFVMLKKDVDAAYM
NKVELEAKVDSLTDELNFLRALYEAELAQLQAQMSDTAVILSMDNNRDLDLNGIVSEVKA
QYEDIANRSRAEAEAWYQTKFEELQATAGRHGDDLRNTKGEISELNRLIQRIRAEIENAR
NQCANMQTAIADAEDRGELALKDARAKLIELEEALQKAKEEMTRLLREYQELMNVKLALD
IEIATYRKLLEGEESRLFGEGVNPVSISVVSTSAGGGGGGGGGLGGGLGGGLGGLGLGLG
GGGFGLGSGLSFGGGGGSLGSGLSFGYGGGSGGGLGFGGGSFSSGSGKGIGAGSSSGVKI
ISKTSTSQKSIKS
Protein Alignment to Mouse
sp|Q922U2|K2C5_MOUSE Keratin, type II cytoskeletal 5 OS=Mus musculus GN=Krt5
            PE=1 SV=1
      MGI:96702 Krt5 keratin 5 (Chr 15)
        Length = 580

 Score = 1330 (473.2 bits), Expect = 1.8e-136, P = 1.8e-136
 Identities = 261/360 (72%), Positives = 299/360 (83%)

Query:   154 IQEVTINQSLLAPLNLEIDPAIQEVRKEEKEQIKTLNNKFASFIDKVRFLEQQNKVLETK 213
             IQEVT+NQ+LL PLNL+IDP IQ VR EE+EQIKTLNNKFASFIDKVRFLEQQNKVL+TK
Sbjct:   134 IQEVTVNQNLLTPLNLQIDPTIQRVRTEEREQIKTLNNKFASFIDKVRFLEQQNKVLDTK 193

Query:   214 WTLLQDQGFKTGANKGNLDPLFEAYINNLRKQLNGLINEKGRLDGELRNMQDIVEDFKTK 273
             W LLQ+QG KT   K NLDPLFE YINNLR+QL+G++ E+GRLD ELRNMQD+VED+K K
Sbjct:   194 WALLQEQGTKT--IKQNLDPLFEQYINNLRRQLDGVLGERGRLDSELRNMQDLVEDYKNK 251

Query:   274 YEEEINRRTSAENEFVMLKKDVDAAYMNKVELEAKVDSLTDELNFXXXXXXXXXXXXXXX 333
             YE+EIN+RT+AENEFVMLKKDVDAAYMNKVELEA+VD+L DE+NF               
Sbjct:   252 YEDEINKRTTAENEFVMLKKDVDAAYMNKVELEARVDALMDEINFMKMFFDAELSQMQTH 311

Query:   334 MSDTAVILSMDNNRDLDLNGIVSEVKAQYEDIANRSRAEAEAWYQTKFEELQATAGRHGD 393
             +SDT+V+LSMDNNR LDL+ I++EVKAQYEDIANRSR EAE+WYQTK+EELQ TAGRHGD
Sbjct:   312 VSDTSVVLSMDNNRSLDLDSIIAEVKAQYEDIANRSRTEAESWYQTKYEELQQTAGRHGD 371

Query:   394 DLRNTKGEISELNRLIQRIRAEIENARNQCANMQTAIADAEDRGELALKDARXXXXXXXX 453
             DLRNTK EISE+NR+IQR+R+EI+N + QCAN+Q AIA+AE RGELALKDAR        
Sbjct:   372 DLRNTKHEISEMNRMIQRLRSEIDNVKKQCANLQNAIAEAEQRGELALKDARNKLTELEE 431

Query:   454 XXXXXXXXMTRLLREYQELMNVKLALDIEIATYRKLLEGEESRLFGEGVNPVSISVVSTS 513
                     M RLLREYQELMN KLALD+EIATYRKLLEGEE RL GEGV PV+ISVV+ S
Sbjct:   432 ALQKAKQDMARLLREYQELMNTKLALDVEIATYRKLLEGEECRLSGEGVGPVNISVVTNS 491