LOCUS       NM_007035               2203 bp    mRNA    linear   PRI 09-JUN-2024
DEFINITION  Homo sapiens keratocan (KERA), mRNA.
ACCESSION   NM_007035
VERSION     NM_007035.4
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 2203)
  AUTHORS   Dudakova,L., Vercruyssen,J.H.J., Balikova,I., Postolache,L.,
            Leroy,B.P., Skalicka,P. and Liskova,P.
  TITLE     Analysis of KERA in four families with cornea plana identifies two
            novel mutations
  JOURNAL   Acta Ophthalmol 96 (1), e87-e91 (2018)
   PUBMED   28677912
  REMARK    GeneRIF: KERA mutation c.740A>G has been identified to date in
            three different populations, which makes it the most frequently
            occurring mutation in patients with cornea plana
REFERENCE   2  (bases 1 to 2203)
  AUTHORS   Khan,A.O.
  TITLE     Corneal ectasia in a boy with homozygous KERA mutation
  JOURNAL   Ophthalmic Genet 39 (1), 141-143 (2018)
   PUBMED   28799822
  REMARK    GeneRIF: We expand the phenotypic spectrum of biallelic KERA
            mutations in this report of a boy with juvenile corneal ectasia who
            was found to harbor an underlying novel homozygous mutation in the
            gene.
REFERENCE   3  (bases 1 to 2203)
  AUTHORS   Kumari,D., Tiwari,A., Choudhury,M., Kumar,A., Rao,A. and Dixit,M.
  TITLE     A Novel KERA Mutation in a Case of Autosomal Recessive Cornea Plana
            With Primary Angle-Closure Glaucoma
  JOURNAL   J Glaucoma 25 (2), e106-e109 (2016)
   PUBMED   25967529
  REMARK    GeneRIF: The mutation that we report here leads to the deletion of
            a conserved amino acid (p.Phe125del) from the third LRR motif of
            the keratocan protein, which might lead to an abnormal tertiary
            structure of the protein, thereby leading to the disease.
REFERENCE   4  (bases 1 to 2203)
  AUTHORS   Roos,L., Bertelsen,B., Harris,P., Bygum,A., Jensen,H., Gronskov,K.
            and Tumer,Z.
  TITLE     Case report: a novel KERA mutation associated with cornea plana and
            its predicted effect on protein function
  JOURNAL   BMC Med Genet 16, 40 (2015)
   PUBMED   26099342
  REMARK    GeneRIF: a novel KERA variant, p.(Ile225Thr), was detected that
            segregates with Cornea plana in the homozygous form.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2203)
  AUTHORS   Maiwald,S., Sivapalaratnam,S., Motazacker,M.M., van
            Capelleveen,J.C., Bot,I., de Jager,S.C., van Eck,M., Jolley,J.,
            Kuiper,J., Stephens,J., Albers,C.A., Vosmeer,C.R., Kruize,H.,
            Geerke,D.P., van der Wal,A.C., van der Loos,C.M., Kastelein,J.J.,
            Trip,M.D., Ouwehand,W.H., Dallinga-Thie,G.M. and Hovingh,G.K.
  TITLE     Mutation in KERA identified by linkage analysis and targeted
            resequencing in a pedigree with premature atherosclerosis
  JOURNAL   PLoS One 9 (5), e98289 (2014)
   PUBMED   24879339
  REMARK    GeneRIF: rare variant in KERA was identified in a large kindred
            with premature atherosclerosis
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2203)
  AUTHORS   Tasheva,E.S., Conrad,A.H. and Conrad,G.W.
  TITLE     Identification and characterization of conserved cis-regulatory
            elements in the human keratocan gene promoter
  JOURNAL   Biochim Biophys Acta 1492 (2-3), 452-459 (2000)
   PUBMED   10899581
REFERENCE   7  (bases 1 to 2203)
  AUTHORS   Pellegata,N.S., Dieguez-Lucena,J.L., Joensuu,T., Lau,S.,
            Montgomery,K.T., Krahe,R., Kivela,T., Kucherlapati,R., Forsius,H.
            and de la Chapelle,A.
  TITLE     Mutations in KERA, encoding keratocan, cause cornea plana
  JOURNAL   Nat Genet 25 (1), 91-95 (2000)
   PUBMED   10802664
REFERENCE   8  (bases 1 to 2203)
  AUTHORS   Tasheva,E.S., Pettenati,M., Von Kap-Her,C. and Conrad,G.W.
  TITLE     Assignment of keratocan gene (KERA) to human chromosome band 12q22
            by in situ hybridization
  JOURNAL   Cytogenet Cell Genet 88 (3-4), 244-245 (2000)
   PUBMED   10828599
REFERENCE   9  (bases 1 to 2203)
  AUTHORS   Tasheva,E.S., Funderburgh,J.L., Funderburgh,M.L., Corpuz,L.M. and
            Conrad,G.W.
  TITLE     Structure and sequence of the gene encoding human keratocan
  JOURNAL   DNA Seq 10 (1), 67-74 (1999)
   PUBMED   10565548
REFERENCE   10 (bases 1 to 2203)
  AUTHORS   Tahvanainen,E., Forsius,H., Karila,E., Ranta,S., Eerola,M.,
            Weissenbach,J., Sistonen,P. and de la Chapelle,A.
  TITLE     Cornea plana congenita gene assigned to the long arm of chromosome
            12 by linkage analysis
  JOURNAL   Genomics 26 (2), 290-293 (1995)
   PUBMED   7601455
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC078873.22.
            
            On Feb 25, 2020 this sequence version replaced NM_007035.3.
            
            Summary: The protein encoded by this gene is a keratan sulfate
            proteoglycan that is involved in corneal transparency. Defects in
            this gene are a cause of autosomal recessive cornea plana 2
            (CNA2).[provided by RefSeq, May 2010].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            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 :: AF205403.1, AK314990.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2146982, SAMEA2155371
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000266719.4/ ENSP00000266719.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-281               AC078873.22        114502-114782       c
            282-1175            AC078873.22        112154-113047       c
            1176-2203           AC078873.22        107249-108276       c
FEATURES             Location/Qualifiers
     source          1..2203
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q21.33"
     gene            1..2203
                     /gene="KERA"
                     /gene_synonym="CNA2; KTN; SLRR2B"
                     /note="keratocan"
                     /db_xref="GeneID:11081"
                     /db_xref="HGNC:HGNC:6309"
                     /db_xref="MIM:603288"
     exon            1..281
                     /gene="KERA"
                     /gene_synonym="CNA2; KTN; SLRR2B"
                     /inference="alignment:Splign:2.1.0"
     exon            282..1175
                     /gene="KERA"
                     /gene_synonym="CNA2; KTN; SLRR2B"
                     /inference="alignment:Splign:2.1.0"
     CDS             290..1348
                     /gene="KERA"
                     /gene_synonym="CNA2; KTN; SLRR2B"
                     /note="keratan sulfate proteoglycan keratocan"
                     /codon_start=1
                     /product="keratocan precursor"
                     /protein_id="NP_008966.1"
                     /db_xref="CCDS:CCDS9037.1"
                     /db_xref="GeneID:11081"
                     /db_xref="HGNC:HGNC:6309"
                     /db_xref="MIM:603288"
                     /translation="MAGTICFIMWVLFITDTVWSRSVRQVYEVHDSDDWTIHDFECPM
                     ECFCPPSFPTALYCENRGLKEIPAIPSRIWYLYLQNNLIETIPEKPFENATQLRWINL
                     NKNKITNYGIEKGALSQLKKLLFLFLEDNELEEVPSPLPRSLEQLQLARNKVSRIPQG
                     TFSNLENLTLLDLQNNKLVDNAFQRDTFKGLKNLMQLNMAKNALRNMPPRLPANTMQL
                     FLDNNSIEGIPENYFNVIPKVAFLRLNHNKLSDEGLPSRGFDVSSILDLQLSHNQLTK
                     VPRISAHLQHLHLDHNKIKSVNVSVICPSPSMLPAERDSFSYGPHLRYLRLDGNEIKP
                     PIPMALMTCFRLLQAVII"
     exon            1176..2203
                     /gene="KERA"
                     /gene_synonym="CNA2; KTN; SLRR2B"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 aatccattac catgtacaag cagtgaccaa tagaaaagga agaagaagat ccaagaaggc
       61 tgaggtaagc agtcttctga agccctgtca aagtggaaac aatagatcaa aggtgttcat
      121 ggtgactggg acgagtaggt ttcactgttt ctcatagacg acttgacagc ttaaagtaaa
      181 aacaaattat tttcgtcaaa gttttttttt ttctcttaac tgatttttag caaacctcag
      241 actgagacac aggactcaac ggtgtattcc tggaaggcaa ggtgctataa tggcaggcac
      301 aatctgtttc atcatgtggg tgttattcat aacagacact gtgtggtcta gaagtgtgag
      361 gcaggtctat gaagtacatg attcagatga ttggactatt catgacttcg agtgtcccat
      421 ggaatgtttc tgcccaccca gttttcctac tgctttatat tgtgaaaata gaggtctcaa
      481 agaaattcct gctattcctt caagaatttg gtatctttat cttcaaaaca acctgataga
      541 aaccattcct gaaaagccat ttgagaatgc cacccagcta agatggataa atctaaacaa
      601 gaacaaaata accaactacg gaattgaaaa aggagcccta agccagctga agaagttgct
      661 cttcttattt ctggaagata atgagctaga ggaggtacct tctccattgc caagaagttt
      721 agaacaatta caattagcta gaaataaggt gtccagaatt cctcaaggga cctttagcaa
      781 tctggagaac ctgacccttc ttgacctaca gaacaacaaa ttagtggaca atgcctttca
      841 aagagacact tttaaaggac tcaagaatct catgcagcta aacatggcca agaatgccct
      901 gaggaatatg cctccaagat taccagccaa tacaatgcag ttgtttttag acaacaattc
      961 cattgaagga ataccagaaa attattttaa tgtgattcct aaagtggcct ttttgagact
     1021 aaatcacaac aaactgtcag atgagggtct cccatcaaga ggatttgatg tatcatcaat
     1081 tctagatctt caactgtcgc acaatcaact cacaaaggtt ccccgaatca gtgctcatct
     1141 gcagcacctt caccttgatc ataacaaaat taaaagtgtg aatgtctctg taatatgtcc
     1201 cagcccatcc atgctgcctg cagaacgaga ttccttcagt tatggacctc atcttcgcta
     1261 cctccgtctg gatggaaatg aaatcaaacc accaattcca atggctttaa tgacctgctt
     1321 cagacttctg caggctgtca ttatttaaac acattctcac caaatctaaa attagtttaa
     1381 tgagctgttt ctgacatgaa atgtggttac cattaatagg tttaggacac aagtcatatt
     1441 ccccattgct ctcggccacc attttcattt gtgcagtgta ttttttctat tcaaagatgc
     1501 ttttgccagt tacatgcatc acagcctgca ttaatttgct tttcttttaa ttaataaaac
     1561 agacacagag ttaagatagt ttatcaactc aaagatagtt ttattttggt ctcttccata
     1621 gcttattaac actaaagaaa acaattacat tcttatacaa taaaaaggac acatttgtgt
     1681 atgtttaaaa ttacttatgc agataccgta atttacagta taaatgtaat aatcaaacag
     1741 gaggataacg acctgaagaa aatgagaaaa taaaatattt cttaattgta atcataataa
     1801 aacaattgca gattgctaag tagctgttgg tggtacaagt ttgatattta gcttgagaat
     1861 gggtatggaa tgaatcaaat acttcatcac taaagaattc ttgttattta atatcaaata
     1921 atgaaacagc agtcacttct agttcattac catttcttgt agctgttgtt tttagatata
     1981 gtccactgca ttcttataag ttctaaattt tatgtttatt ataatgcatt tcttgtggaa
     2041 tcttagtgtt ttaacatttg aaatccactt aaactgcaaa ttgttcttta tatttgattg
     2101 tgttttttgg attttctaaa taaaaatatt gaatgctttc taacaaaaca gaatatttca
     2161 aagaaattag caagcttcat taaagaacat gttttaataa aaa
//
