Nomenclature | Genomic Location |
Symbol | Krt2 | Chromosome | 2 |
Name | Keratin, type II cytoskeletal 2 epidermal | Linkage map | unknown |
Species | Dracomimus familiaris | Genome Coordinates | Chr2: 77 Mbp |
Molecular Function |
Probably contributes to terminal cornification. Associated with keratinocyte activation, proliferation and keratinization.
Molecular Function Terms:
structural molecule activity
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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.
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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
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