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Homo sapiens keratin 12 (KRT12), mRNA.


RefSeq Accession Definition Sequence Price Select
NM_000223 Homo sapiens keratin 12 (KRT12), mRNA. Full Lenth $577.68
ORF Sequence $430.65


RefSeq Version NM_000223.3, 156602658
Length 1992 bp
Structure linear
Update Date 09-APR-2011
Organism Homo sapiens (human)
Definition Homo sapiens keratin 12 (KRT12), mRNA.
Product keratin, type I cytoskeletal 12
Comment

Summary: KRT12 encodes the type I intermediate filament chain keratin 12, expressed in corneal epithelia. Mutations in this gene lead to Meesmann corneal dystrophy. [provided by RefSeq].

RefSeq NP_000214.1
CDS 25..1509
Exon (1)1..591
Exon (2)592..674
Exon (3)675..831
Exon (4)832..993
Exon (5)994..1119
Exon (6)1120..1340
Exon (7)1341..1411
Exon (8)1412..1992
Translation MDLSNNTMSLSVRTPGLSRRLSSQSVIGRPRGMSASSVGSGYGGSAFGFGASCGGGFSAA SMFGSSSGFGGGSGSSMAGGLGAGYGRALGGGSFGGLGMGFGGSPGGGSLGILSGNDGGL LSGSEKETMQNLNDRLASYLDKVRALEEANTELENKIREWYETRGTGTADASQSDYSKYY PLIEDLRNKIISASIGNAQLLLQIDNARLAAEDFRMKYENELALRQGVEADINGLRRVLD ELTLTRTDLEMQIESLNEELAYMKKNHEDELQSFRVGGPGEVSVEMDAAPGVDLTRLLND MRAQYETIAEQNRKDAEAWFIEKSGELRKEISTNTEQLQSSKSEVTDLRRAFQNLEIELQ SQLAMKKSLEDSLAEAEGDYCAQLSQVQQLISNLEAQLLQVRADAERQNVDHQRLLNVKA RLELEIETYRRLLDGEAQGDGLEESLFVTDSKSQAQSTDSSKDPTKTRKIKTVVQEMVNG EVVSSQVQEIEELM
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Position Chain Variation Link
complement(36..37)-, gdbSNP:34871978
complement(67)-g, adbSNP:11650915
complement(82)-g, adbSNP:17566772
410+c, tdbSNP:28936695
413+a, cdbSNP:58864803
423+g, tdbSNP:61167390
427+a, gdbSNP:58410481
428+c, g, tdbSNP:57218384
429+a, cdbSNP:61282718
433+c, gdbSNP:58038639
443+g, tdbSNP:58918655
451+c, gdbSNP:58343600
complement(456)-t, cdbSNP:112885629
complement(467)-t, cdbSNP:113833263
complement(524)-c, adbSNP:74952061
complement(752)-g, adbSNP:61735165
complement(765)-g, adbSNP:61735166
1300+a, gdbSNP:59465138
1301+g, tdbSNP:59350319
1309+g, tdbSNP:58162394
1310+a, gdbSNP:59202432
1313+c, gdbSNP:62635290
complement(1427)-t, cdbSNP:74804130
complement(1531)-g, adbSNP:112986245
complement(1869)-t, gdbSNP:62065925
complement(1981..1982)-, gdbSNP:35385537
Gene SymbolKRT12
Gene SynonymK12
Chromosome17
Locus Map17q12
All Transcripts NM_000223
Title Identification of a novel mutation in the cornea specific keratin 12 gene causing Meesmann's corneal dystrophy in a German family .
Author Clausen,I., Duncker,G.I. and Grunauer-Kloevekorn,C.
Journal Mol. Vis. 16, 954-960 (2010)
Title A novel mutation in the cornea-specific keratin 12 gene in Meesmann corneal dystrophy .
Author Seto,T., Fujiki,K., Kishishita,H., Fujimaki,T., Murakami,A. and Kanai,A.
Journal Jpn. J. Ophthalmol. 52 (3), 224-226 (2008)
Title A novel mutation as the basis for asymptomatic meesmann dystrophy in a Danish family .
Author Nielsen,K., Orntoft,T., Hjortdal,J., Rasmussen,T. and Ehlers,N.
Journal Cornea 27 (1), 100-102 (2008)
Title A novel mutation of the Keratin 12 gene responsible for a severe phenotype of Meesmann's corneal dystrophy .
Author Sullivan,L.S., Baylin,E.B., Font,R., Daiger,S.P., Pepose,J.S., Clinch,T.E., Nakamura,H., Zhao,X.C. and Yee,R.W.
Journal Mol. Vis. 13, 975-980 (2007)
Title New consensus nomenclature for mammalian keratins .
Author Schweizer,J., Bowden,P.E., Coulombe,P.A., Langbein,L., Lane,E.B., Magin,T.M., Maltais,L., Omary,M.B., Parry,D.A., Rogers,M.A. and Wright,M.W.
Journal J. Cell Biol. 174 (2), 169-174 (2006)
Title A novel keratin 12 mutation in a German kindred with Meesmann's corneal dystrophy .
Author Corden,L.D., Swensson,O., Swensson,B., Rochels,R., Wannke,B., Thiel,H.J. and McLean,W.H.
Journal Br J Ophthalmol 84 (5), 527-530 (2000)
Title Molecular genetics of Meesmann's corneal dystrophy: ancestral and novel mutations in keratin 12 (K12) and complete sequence of the human KRT12 gene .
Author Corden,L.D., Swensson,O., Swensson,B., Smith,F.J., Rochels,R., Uitto,J. and McLEAN,W.H.
Journal Exp. Eye Res. 70 (1), 41-49 (2000)
Title Isolation and chromosomal localization of a cornea-specific human keratin 12 gene and detection of four mutations in Meesmann corneal epithelial dystrophy .
Author Nishida,K., Honma,Y., Dota,A., Kawasaki,S., Adachi,W., Nakamura,T., Quantock,A.J., Hosotani,H., Yamamoto,S., Okada,M., Shimomura,Y. and Kinoshita,S.
Journal Am. J. Hum. Genet. 61 (6), 1268-1275 (1997)
Title Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy .
Author Irvine,A.D., Corden,L.D., Swensson,O., Swensson,B., Moore,J.E., Frazer,D.G., Smith,F.J., Knowlton,R.G., Christophers,E., Rochels,R., Uitto,J. and McLean,W.H.
Journal Nat. Genet. 16 (2), 184-187 (1997)
Title A gene expression profile of human corneal epithelium and the isolation of human keratin 12 cDNA .
Author Nishida,K., Adachi,W., Shimizu-Matsumoto,A., Kinoshita,S., Mizuno,K., Matsubara,K. and Okubo,K.
Journal Invest. Ophthalmol. Vis. Sci. 37 (9), 1800-1809 (1996)

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