LOCUS       NM_024335               2681 bp    mRNA    linear   PRI 04-AUG-2024
DEFINITION  Homo sapiens iroquois homeobox 6 (IRX6), mRNA.
ACCESSION   NM_024335 XM_378174
VERSION     NM_024335.3
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 2681)
  AUTHORS   Kohl,S., Llavona,P., Sauer,A., Reuter,P., Weisschuh,N., Kempf,M.,
            Dehmelt,F.A., Arrenberg,A.B., Sliesoraityte,I., Zrenner,E., van
            Schooneveld,M.J., Rudolph,G., Kuhlewein,L. and Wissinger,B.
  TITLE     A duplication on chromosome 16q12 affecting the IRXB gene cluster
            is associated with autosomal dominant cone dystrophy with early
            tritanopic color vision defect
  JOURNAL   Hum Mol Genet 30 (13), 1218-1229 (2021)
   PUBMED   33891002
  REMARK    GeneRIF: A duplication on chromosome 16q12 affecting the IRXB gene
            cluster is associated with autosomal dominant cone dystrophy with
            early tritanopic color vision defect.
REFERENCE   2  (bases 1 to 2681)
  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   3  (bases 1 to 2681)
  AUTHORS   Kojima,Y., Koguchi,T., Mizuno,K., Sato,Y., Hoshi,S., Hata,J.,
            Nishio,H., Hashimoto,D., Matsushita,S., Suzuki,K., Miyagawa,S.,
            Hui,C.C., Tanikawa,C., Murakami,Y., Yamada,G., Hayashi,Y. and
            Matsuda,K.
  TITLE     Single Nucleotide Polymorphisms of HAAO and IRX6 Genes as Risk
            Factors for Hypospadias
  JOURNAL   J Urol 201 (2), 386-392 (2019)
   PUBMED   30063927
  REMARK    GeneRIF: Genetic variations of HAAO and IRX6 influence
            susceptibility to hypospadias in the Japanese population.
REFERENCE   4  (bases 1 to 2681)
  AUTHORS   Geller,F., Feenstra,B., Carstensen,L., Pers,T.H., van Rooij,I.A.,
            Korberg,I.B., Choudhry,S., Karjalainen,J.M., Schnack,T.H.,
            Hollegaard,M.V., Feitz,W.F., Roeleveld,N., Hougaard,D.M.,
            Hirschhorn,J.N., Franke,L., Baskin,L.S., Nordenskjold,A., van der
            Zanden,L.F. and Melbye,M.
  TITLE     Genome-wide association analyses identify variants in developmental
            genes associated with hypospadias
  JOURNAL   Nat Genet 46 (9), 957-963 (2014)
   PUBMED   25108383
REFERENCE   5  (bases 1 to 2681)
  AUTHORS   Fox,C.S., Liu,Y., White,C.C., Feitosa,M., Smith,A.V.,
            Heard-Costa,N., Lohman,K., Johnson,A.D., Foster,M.C.,
            Greenawalt,D.M., Griffin,P., Ding,J., Newman,A.B., Tylavsky,F.,
            Miljkovic,I., Kritchevsky,S.B., Launer,L., Garcia,M.,
            Eiriksdottir,G., Carr,J.J., Gudnason,V., Harris,T.B., Cupples,L.A.
            and Borecki,I.B.
  CONSRTM   GIANT Consortium; MAGIC Consortium; GLGC Consortium
  TITLE     Genome-wide association for abdominal subcutaneous and visceral
            adipose reveals a novel locus for visceral fat in women
  JOURNAL   PLoS Genet 8 (5), e1002695 (2012)
   PUBMED   22589738
REFERENCE   6  (bases 1 to 2681)
  AUTHORS   Vaquerizas,J.M., Kummerfeld,S.K., Teichmann,S.A. and Luscombe,N.M.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
REFERENCE   7  (bases 1 to 2681)
  AUTHORS   Ogura,K., Matsumoto,K., Kuroiwa,A., Isobe,T., Otoguro,T.,
            Jurecic,V., Baldini,A., Matsuda,Y. and Ogura,T.
  TITLE     Cloning and chromosome mapping of human and chicken Iroquois (IRX)
            genes
  JOURNAL   Cytogenet Cell Genet 92 (3-4), 320-325 (2001)
   PUBMED   11435706
REFERENCE   8  (bases 1 to 2681)
  AUTHORS   Lewis,M.T., Ross,S., Strickland,P.A., Snyder,C.J. and Daniel,C.W.
  TITLE     Regulated expression patterns of IRX-2, an Iroquois-class homeobox
            gene, in the human breast
  JOURNAL   Cell Tissue Res 296 (3), 549-554 (1999)
   PUBMED   10370142
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC109462.2.
            
            On Aug 16, 2019 this sequence version replaced NM_024335.2.
            
            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.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK125053.1, BC136573.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142680, SAMEA2144333
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000290552.8/ ENSP00000290552.8
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-934               AC109462.2         141126-142059
            935-1192            AC109462.2         143259-143516
            1193-1302           AC109462.2         144219-144328
            1303-1610           AC109462.2         144509-144816
            1611-2222           AC109462.2         145623-146234
            2223-2681           AC109462.2         147221-147679
FEATURES             Location/Qualifiers
     source          1..2681
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q12.2"
     gene            1..2681
                     /gene="IRX6"
                     /gene_synonym="IRX-3; IRX7; IRXB3"
                     /note="iroquois homeobox 6"
                     /db_xref="GeneID:79190"
                     /db_xref="HGNC:HGNC:14675"
                     /db_xref="MIM:606196"
     exon            1..934
                     /gene="IRX6"
                     /gene_synonym="IRX-3; IRX7; IRXB3"
                     /inference="alignment:Splign:2.1.0"
     CDS             890..2230
                     /gene="IRX6"
                     /gene_synonym="IRX-3; IRX7; IRXB3"
                     /note="iroquois homeobox protein 6; iroquois homeobox
                     protein 7; homeodomain protein IRXB3"
                     /codon_start=1
                     /product="iroquois-class homeodomain protein IRX-6"
                     /protein_id="NP_077311.2"
                     /db_xref="CCDS:CCDS32449.1"
                     /db_xref="GeneID:79190"
                     /db_xref="HGNC:HGNC:14675"
                     /db_xref="MIM:606196"
                     /translation="MSFPHFGHPYRGASQFLASASSSTTCCESTQRSVSDVASGSTPA
                     PALCCAPYDSRLLGSARPELGAALGIYGAPYAAAAAAQSYPGYLPYSPEPPSLYGALN
                     PQYEFKEAAGSFTSSLAQPGAYYPYERTLGQYQYERYGAVELSGAGRRKNATRETTST
                     LKAWLNEHRKNPYPTKGEKIMLAIITKMTLTQVSTWFANARRRLKKENKMTWAPKNKG
                     GEERKAEGGEEDSLGCLTADTKEVTASQEARGLRLSDLEDLEEEEEEEEEAEDEEVVA
                     TAGDRLTEFRKGAQSLPGPCAAAREGRLERRECGLAAPRFSFNDPSGSEEADFLSAET
                     GSPRLTMHYPCLEKPRIWSLAHTATASAVEGAPPARPRPRSPECRMIPGQPPASARRL
                     SVPRDSACDESSCIPKAFGNPKFALQGLPLNCAPCPRRSEPVVQCQYPSGAEAG"
     exon            935..1192
                     /gene="IRX6"
                     /gene_synonym="IRX-3; IRX7; IRXB3"
                     /inference="alignment:Splign:2.1.0"
     exon            1193..1302
                     /gene="IRX6"
                     /gene_synonym="IRX-3; IRX7; IRXB3"
                     /inference="alignment:Splign:2.1.0"
     exon            1303..1610
                     /gene="IRX6"
                     /gene_synonym="IRX-3; IRX7; IRXB3"
                     /inference="alignment:Splign:2.1.0"
     exon            1611..2222
                     /gene="IRX6"
                     /gene_synonym="IRX-3; IRX7; IRXB3"
                     /inference="alignment:Splign:2.1.0"
     exon            2223..2681
                     /gene="IRX6"
                     /gene_synonym="IRX-3; IRX7; IRXB3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2663..2668
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IRX6"
                     /gene_synonym="IRX-3; IRX7; IRXB3"
                     /note="hexamer: AATAAT"
     polyA_site      2681
                     /gene="IRX6"
                     /gene_synonym="IRX-3; IRX7; IRXB3"
                     /note="major polyA site"
ORIGIN      
        1 gccagtgctc agcctccgcc cagccttcgc ccaccccagc tccctccccc tcccccacgc
       61 gcctctgttc actcagactc ctgtctcccc tctcccctcc tccttctccc tcttgccttt
      121 ctcccccact tttctcctgt ctcttctttt gtattctctc ctccctcgcc gccccggttg
      181 cctctcgcct cctccgggcc gcaggggagg aggtgagcgc gctgcgcccg gggcctgcgc
      241 ggctcagagg gaggcgtttc tcctacttct cccgggtaat ttggagaggt tgtgtgtgtg
      301 tgcgcgcgcg cgtgagctcc aggcgaaaag gggtaggatt cagcgccgag cagagagggt
      361 cagggttttt gacgttcctc gccagctgca caaacctccc ggagcaagtg tgagtgtggg
      421 tgagagtgcg cgcgcgcgca cgggctggct gcgcttggca cgcttggtgg cccagggtcc
      481 cggggcccgg ggtcccgtct ggcggcccgg gattaccgtg acgtcacatt gagcctctgg
      541 ccaccttgga ctgggacacc tccggagcct cacagccccg cgccgcgccg cgcctcacct
      601 cgccaccacg cgcctttggg aacccgcatc ttcttccttc ccctgcccat ccatgggccc
      661 ttctgtcttc cggaccccac gggccggagg ggcgccttcc ggagcgcagg gctcggcagc
      721 cgggctgccc tcggctctgc ctccactggg gccaaccagg cgaaggaacc ggcgctgggc
      781 atccgcagcg gtgtaaggaa ctgagacacc tcactgctgg gggcgcggaa cagctgggct
      841 gagacgggaa ctcgacaggg aagagagaga cgggccaggg acagccacca tgtccttccc
      901 acactttgga cacccgtacc gcggcgcttc ccagtttctg gcgtcggcaa gttccagcac
      961 cacatgctgc gaatctaccc aacgctctgt ctcagatgtg gcatcaggct ccaccccagc
     1021 gcccgctctc tgctgcgcac cctacgatag tcgactgctg ggcagtgcgc gaccggagct
     1081 gggcgccgcc ttgggcatct atggagcacc ctatgcggcc gctgcagctg cccagagcta
     1141 ccctggctac ctgccctata gcccagagcc cccctcactg tatggggcac tgaatccaca
     1201 gtatgaattt aaggaggctg cagggagttt tacatccagc ctggcacaac caggagccta
     1261 ttatccctat gagcggactc tggggcagta ccaatatgaa cggtatggcg cagtggaatt
     1321 gagtggcgcc ggtcgccgaa agaacgcgac ccgggagacc accagtacac tcaaggcctg
     1381 gctcaacgag caccgcaaaa acccctaccc cactaagggt gagaagatca tgctggccat
     1441 catcaccaag atgaccctca cccaggtgtc cacctggttc gccaacgcac gccggcgcct
     1501 caagaaagag aacaaaatga catgggcgcc caagaacaaa ggtggggagg agaggaaggc
     1561 agagggagga gaggaggact cactaggctg cctaactgct gacaccaaag aagttactgc
     1621 tagccaggag gcccgggggc tccggctgag tgacctggaa gacctggagg aagaggagga
     1681 ggaggaggag gaagctgaag acgaggaggt agtggccaca gctggggaca ggctgacgga
     1741 gttccgaaag ggcgcgcagt cactgcctgg gccgtgcgct gcagctcgag agggccgatt
     1801 ggagcgcagg gagtgcggcc tggctgcgcc ccgcttctcc ttcaatgacc cttccggatc
     1861 ggaagaagct gacttcctct cggcggagac aggcagccct aggttgacca tgcactaccc
     1921 atgcttggag aaaccgcgca tctggtctct ggcgcacacc gcgacagcca gcgctgttga
     1981 aggtgcaccc ccagcccggc ctaggccacg aagtcctgag tgccgtatga ttcctggaca
     2041 gcctcctgcc tctgcccggc gactctcagt ccccagagac tccgcgtgcg acgagtcttc
     2101 ctgcataccc aaagcctttg gaaaccccaa gtttgccctg cagggactac cgctgaactg
     2161 tgcgccgtgc ccgcggagga gcgagcctgt agtgcagtgc cagtacccgt ctggagcaga
     2221 agcaggttag cgcaatggct gcgatttgcg aaagaatctt ggaaatgggc cccacgtttc
     2281 gaattcatct ccaggttaag aagctgccag accttgccag ggaccaggag ctctcacttt
     2341 gcctaagaga cagacacaca gaaaccctcc tagcagctgt ccttgcacgc agagctgggg
     2401 tggtgggccg acttgaacct tagcagtccc cacgggagat ggcagggcac cttggggaag
     2461 gccaagtggg aggctgggag gctgccccac ccaccgactc taccaagtct ctcttcctcc
     2521 tgtggattca gcaaggcttc ctctcctgct cacccctgtc tctcacctcc accaacccca
     2581 ctcactttgt aacttcatca ctgacccggc caataaggac cctgtgcgtc ttctccccct
     2641 cctaagccct tgtgtcctta aaaataatca gtccgaaccc a
//
