LOCUS       NM_000423               2450 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens keratin 2 (KRT2), mRNA.
ACCESSION   NM_000423
VERSION     NM_000423.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2450)
  AUTHORS   Frommherz,L., Komlosi,K., Hewel,C., Kopp,J., Dewenter,M.,
            Zimmer,A., Bartsch,O., Linke,M., Technau-Hafsi,K., Gerber,S.,
            Fischer,J. and Has,C.
  TITLE     Acral lamellar ichthyosis with amino acid substitution in the
            C-terminus of keratin 2
  JOURNAL   J Eur Acad Dermatol Venereol 37 (4), 817-822 (2023)
   PUBMED   36331357
  REMARK    GeneRIF: Acral lamellar ichthyosis with amino acid substitution in
            the C-terminus of keratin 2.
REFERENCE   2  (bases 1 to 2450)
  AUTHORS   Diociaiuti,A., Castiglia,D., Corbeddu,M., Rotunno,R., Rossi,S.,
            Pisaneschi,E., Cesario,C., Condorelli,A.G., Zambruno,G. and El
            Hachem,M.
  TITLE     First Case of KRT2 Epidermolytic Nevus and Novel Clinical and
            Genetic Findings in 26 Italian Patients with Keratinopathic
            Ichthyoses
  JOURNAL   Int J Mol Sci 21 (20), 7707 (2020)
   PUBMED   33081034
  REMARK    GeneRIF: First Case of KRT2 Epidermolytic Nevus and Novel Clinical
            and Genetic Findings in 26 Italian Patients with Keratinopathic
            Ichthyoses.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2450)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 2450)
  AUTHORS   Aldehlawi,H., Usman,S., Lalli,A., Ahmad,F., Williams,G., Teh,M.T.
            and Waseem,A.
  TITLE     Serum lipids, retinoic acid and phenol red differentially regulate
            expression of keratins K1, K10 and K2 in cultured keratinocytes
  JOURNAL   Sci Rep 10 (1), 4829 (2020)
   PUBMED   32179842
  REMARK    GeneRIF: Serum lipids, retinoic acid and phenol red differentially
            regulate expression of keratins K1, K10 and K2 in cultured
            keratinocytes.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2450)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2450)
  AUTHORS   Steinert,P.M. and Marekov,L.N.
  TITLE     The proteins elafin, filaggrin, keratin intermediate filaments,
            loricrin, and small proline-rich proteins 1 and 2 are isodipeptide
            cross-linked components of the human epidermal cornified cell
            envelope
  JOURNAL   J Biol Chem 270 (30), 17702-17711 (1995)
   PUBMED   7543090
REFERENCE   7  (bases 1 to 2450)
  AUTHORS   Kremer,H., Zeeuwen,P., McLean,W.H., Mariman,E.C., Lane,E.B., van de
            Kerkhof,C.M., Ropers,H.H. and Steijlen,P.M.
  TITLE     Ichthyosis bullosa of Siemens is caused by mutations in the keratin
            2e gene
  JOURNAL   J Invest Dermatol 103 (3), 286-289 (1994)
   PUBMED   8077693
REFERENCE   8  (bases 1 to 2450)
  AUTHORS   McLean,W.H., Morley,S.M., Lane,E.B., Eady,R.A., Griffiths,W.A.,
            Paige,D.G., Harper,J.I., Higgins,C. and Leigh,I.M.
  TITLE     Ichthyosis bullosa of Siemens--a disease involving keratin 2e
  JOURNAL   J Invest Dermatol 103 (3), 277-281 (1994)
   PUBMED   7521371
REFERENCE   9  (bases 1 to 2450)
  AUTHORS   Rothnagel,J.A., Traupe,H., Wojcik,S., Huber,M., Hohl,D.,
            Pittelkow,M.R., Saeki,H., Ishibashi,Y. and Roop,D.R.
  TITLE     Mutations in the rod domain of keratin 2e in patients with
            ichthyosis bullosa of Siemens
  JOURNAL   Nat Genet 7 (4), 485-490 (1994)
   PUBMED   7524919
REFERENCE   10 (bases 1 to 2450)
  AUTHORS   Collin,C., Moll,R., Kubicka,S., Ouhayoun,J.P. and Franke,W.W.
  TITLE     Characterization of human cytokeratin 2, an epidermal cytoskeletal
            protein synthesized late during differentiation
  JOURNAL   Exp Cell Res 202 (1), 132-141 (1992)
   PUBMED   1380918
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC055716.24, M99061.1, BC096294.4 and AL598277.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_000423.2.
            
            Summary: The protein encoded by this gene is a member of the
            keratin gene family. The type II cytokeratins consist of basic or
            neutral proteins which are arranged in pairs of heterotypic keratin
            chains coexpressed during differentiation of simple and stratified
            epithelial tissues. This type II cytokeratin is expressed largely
            in the upper spinous layer of epidermal keratinocytes and mutations
            in this gene have been associated with bullous congenital
            ichthyosiform erythroderma. The type II cytokeratins are clustered
            in a region of chromosome 12q12-q13. [provided by RefSeq, Jul
            2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: M99061.1, BC096294.4 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145893, SAMEA2147596
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000309680.4/ ENSP00000310861.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-36                AC055716.24        3822-3857           c
            37-47               M99061.1           1-11
            48-2220             BC096294.4         1-2173
            2221-2450           AL598277.1         148-377
FEATURES             Location/Qualifiers
     source          1..2450
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.13"
     gene            1..2450
                     /gene="KRT2"
                     /gene_synonym="CK-2e; K2e; KRT2A; KRT2E; KRTE"
                     /note="keratin 2"
                     /db_xref="GeneID:3849"
                     /db_xref="HGNC:HGNC:6439"
                     /db_xref="MIM:600194"
     exon            1..654
                     /gene="KRT2"
                     /gene_synonym="CK-2e; K2e; KRT2A; KRT2E; KRTE"
                     /inference="alignment:Splign:2.1.0"
     CDS             70..1989
                     /gene="KRT2"
                     /gene_synonym="CK-2e; K2e; KRT2A; KRT2E; KRTE"
                     /note="keratin-2e; cytokeratin-2e; keratin-2 epidermis;
                     type-II keratin Kb2; epithelial keratin-2e; keratin 2,
                     type II"
                     /codon_start=1
                     /product="keratin, type II cytoskeletal 2 epidermal"
                     /protein_id="NP_000414.2"
                     /db_xref="CCDS:CCDS8835.1"
                     /db_xref="GeneID:3849"
                     /db_xref="HGNC:HGNC:6439"
                     /db_xref="MIM:600194"
                     /translation="MSCQISCKSRGRGGGGGGFRGFSSGSAVVSGGSRRSTSSFSCLS
                     RHGGGGGGFGGGGFGSRSLVGLGGTKSISISVAGGGGGFGAAGGFGGRGGGFGGGSSF
                     GGGSGFSGGGFGGGGFGGGRFGGFGGPGGVGGLGGPGGFGPGGYPGGIHEVSVNQSLL
                     QPLNVKVDPEIQNVKAQEREQIKTLNNKFASFIDKVRFLEQQNQVLQTKWELLQQMNV
                     GTRPINLEPIFQGYIDSLKRYLDGLTAERTSQNSELNNMQDLVEDYKKKYEDEINKRT
                     AAENDFVTLKKDVDNAYMIKVELQSKVDLLNQEIEFLKVLYDAEISQIHQSVTDTNVI
                     LSMDNSRNLDLDSIIAEVKAQYEEIAQRSKEEAEALYHSKYEELQVTVGRHGDSLKEI
                     KIEISELNRVIQRLQGEIAHVKKQCKNVQDAIADAEQRGEHALKDARNKLNDLEEALQ
                     QAKEDLARLLRDYQELMNVKLALDVEIATYRKLLEGEECRMSGDLSSNVTVSVTSSTI
                     SSNVASKAAFGGSGGRGSSSGGGYSSGSSSYGSGGRQSGSRGGSGGGGSISGGGYGSG
                     GGSGGRYGSGGGSKGGSISGGGYGSGGGKHSSGGGSRGGSSSGGGYGSGGGGSSSVKG
                     SSGEAFGSSVTFSFR"
     exon            655..869
                     /gene="KRT2"
                     /gene_synonym="CK-2e; K2e; KRT2A; KRT2E; KRTE"
                     /inference="alignment:Splign:2.1.0"
     exon            870..930
                     /gene="KRT2"
                     /gene_synonym="CK-2e; K2e; KRT2A; KRT2E; KRTE"
                     /inference="alignment:Splign:2.1.0"
     exon            931..1026
                     /gene="KRT2"
                     /gene_synonym="CK-2e; K2e; KRT2A; KRT2E; KRTE"
                     /inference="alignment:Splign:2.1.0"
     exon            1027..1191
                     /gene="KRT2"
                     /gene_synonym="CK-2e; K2e; KRT2A; KRT2E; KRTE"
                     /inference="alignment:Splign:2.1.0"
     exon            1192..1317
                     /gene="KRT2"
                     /gene_synonym="CK-2e; K2e; KRT2A; KRT2E; KRTE"
                     /inference="alignment:Splign:2.1.0"
     exon            1318..1538
                     /gene="KRT2"
                     /gene_synonym="CK-2e; K2e; KRT2A; KRT2E; KRTE"
                     /inference="alignment:Splign:2.1.0"
     exon            1539..1573
                     /gene="KRT2"
                     /gene_synonym="CK-2e; K2e; KRT2A; KRT2E; KRTE"
                     /inference="alignment:Splign:2.1.0"
     exon            1574..2450
                     /gene="KRT2"
                     /gene_synonym="CK-2e; K2e; KRT2A; KRT2E; KRTE"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2429..2434
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KRT2"
                     /gene_synonym="CK-2e; K2e; KRT2A; KRT2E; KRTE"
                     /note="hexamer: AATAAA"
     polyA_site      2450
                     /gene="KRT2"
                     /gene_synonym="CK-2e; K2e; KRT2A; KRT2E; KRTE"
                     /note="major polyA site"
ORIGIN      
        1 agcacagttg agtctccagc cttgactctt ctcaagagcc tgtgactttc ctccctggac
       61 aaaggcatca tgagttgtca gatctcttgc aaatctcgag gaagaggagg aggtggagga
      121 ggattccggg gcttcagcag cggctcagct gtggtgtctg gtggaagccg gagatcaact
      181 tccagcttct cctgcttgag ccgccatggt ggtggtggcg ggggcttcgg tggaggcggc
      241 tttggcagtc ggagtcttgt tggccttgga gggaccaaga gcatctccat tagtgtggct
      301 ggaggaggtg gtggctttgg cgccgctggt ggatttggtg gcagaggagg tggttttgga
      361 ggcggcagca gctttggagg tggcagcggc ttcagtggtg gtggtttcgg tggaggcggc
      421 tttggtggag gccgctttgg aggttttggg ggccctggtg gtgttggagg tttagggggt
      481 cctggtggct ttgggcctgg aggataccct ggtggcatcc acgaagtctc tgtcaaccag
      541 agcctcctgc agcctctcaa cgtgaaagtt gacccagaga tccagaatgt gaaggcccaa
      601 gagcgtgagc agatcaaaac tctcaacaac aaatttgcct ccttcattga caaggtgcgg
      661 ttcttggagc agcagaacca ggtgttacag accaaatggg agctgctaca acaaatgaat
      721 gttggcaccc gccccatcaa cctggagccc atcttccagg ggtatatcga cagcctcaag
      781 agatatctgg atgggctcac tgcagaaaga acatcacaga attcagagct gaataacatg
      841 caggatcttg tggaggatta taagaagaag tatgaggatg aaatcaataa gcgcacagct
      901 gctgagaatg attttgtgac gcttaaaaag gacgtggaca atgcctacat gataaaggtg
      961 gagttgcagt ccaaggtgga cctgctgaac caggaaattg agtttctgaa agttctctat
     1021 gatgcggaga tatcccagat acatcagagt gtcactgaca ccaacgtcat cctctccatg
     1081 gacaacagcc gcaacctgga cttggatagc atcatcgccg aggtcaaggc ccagtatgag
     1141 gagatcgccc agaggagcaa ggaagaagcg gaggccctgt accacagcaa gtatgaggag
     1201 ctccaggtga ctgtcgggag acatggagac agcctgaaag agatcaagat agagatcagc
     1261 gagctgaacc gcgtgatcca gaggctgcag ggggagatcg cacatgtgaa gaagcagtgt
     1321 aagaatgtgc aagatgccat cgcagatgcc gagcagcgtg gggagcatgc cctcaaggat
     1381 gccaggaaca agttgaatga cctggaggag gccctgcagc aggccaagga ggacttggcg
     1441 cggctgctgc gtgactacca ggagctgatg aacgtgaagc tggccctaga tgtggagatc
     1501 gccacctacc gcaaactgct ggagggcgag gagtgcagga tgtctggaga cctcagcagc
     1561 aatgtgactg tgtctgtgac aagcagcacc atttcatcaa atgtggcatc caaggctgcc
     1621 tttggaggtt ctggaggtag agggtccagt tccggaggag gatacagctc tggaagcagc
     1681 agttatggct ctggaggccg acagtctggc tccagaggcg gtagtggagg aggaggttct
     1741 atctctggag gaggatatgg ctctggcggt ggttctggag gaagatacgg atctggtggt
     1801 ggctctaagg gagggtccat ctctggagga ggatatggct ctggaggtgg aaaacacagc
     1861 tctggaggtg gctctagagg aggctccagc tctggaggag gatatggctc tggaggtggg
     1921 ggttctagct ctgtaaaggg tagctcaggt gaagcttttg gttccagcgt gaccttctct
     1981 tttagataaa gatgagcccc caccaccacc gactctccca acccagactc tcccactcca
     2041 gaatgtagaa gcctgtctct gtacctctaa ctggcagcaa gttaaatttt tgtcatttat
     2101 ctctgatggc actttgaggg aaaagaatgt ccacatacag tttttgaaag atcttctctc
     2161 caaaccagtt agttagagcc agtgacgcct ctgtgttctg gggcggaatc tgtgctgtct
     2221 aggtttgtgc ttctagccat gcccattccc gcccccacca tgcctctttg cattgcccat
     2281 tttccagatg tgtattctgt tgaggaccca ggcccatcca gggatttcat ctctaagcct
     2341 ggcagtgctg gggggaaatg tgtttctgtg tatatagctc ctcttgtcca ctctgctttc
     2401 ggaagtgctg tggtctgggg gtcttcataa taaacctcat ttgcaattca
//
