LOCUS       NM_005519               1628 bp    mRNA    linear   PRI 17-APR-2013
DEFINITION  Homo sapiens H6 family homeobox 2 (HMX2), mRNA.
ACCESSION   NM_005519 XM_370580
VERSION     NM_005519.1  GI:70608169
KEYWORDS    RefSeq.
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 1628)
  AUTHORS   Wotton,K.R., Weierud,F.K., Juarez-Morales,J.L., Alvares,L.E.,
            Dietrich,S. and Lewis,K.E.
  TITLE     Conservation of gene linkage in dispersed vertebrate NK homeobox
            clusters
  JOURNAL   Dev. Genes Evol. (2010) In press
   PUBMED   20072845
  REMARK    Publication Status: Available-Online prior to print
REFERENCE   2  (bases 1 to 1628)
  AUTHORS   Miller,N.D., Nance,M.A., Wohler,E.S., Hoover-Fong,J.E., Lisi,E.,
            Thomas,G.H. and Pevsner,J.
  TITLE     Molecular (SNP) analyses of overlapping hemizygous deletions of
            10q25.3 to 10qter in four patients: evidence for HMX2 and HMX3 as
            candidate genes in hearing and vestibular function
  JOURNAL   Am. J. Med. Genet. A 149A (4), 669-680 (2009)
   PUBMED   19253379
  REMARK    GeneRIF: propose that hemizygous deletions of HMX2 and HMX3 are
            responsible for inner ear malformations, vestibular dysfunction,
            and congenital sensorineural hearing loss
REFERENCE   3  (bases 1 to 1628)
  AUTHORS   de Geus,E.J., Posthuma,D., Kupper,N., van den Berg,M.,
            Willemsen,G., Beem,A.L., Slagboom,P.E. and Boomsma,D.I.
  TITLE     A whole-genome scan for 24-hour respiration rate: a major locus at
            10q26 influences respiration during sleep
  JOURNAL   Am. J. Hum. Genet. 76 (1), 100-111 (2005)
   PUBMED   15558495
REFERENCE   4  (bases 1 to 1628)
  AUTHORS   Raas-Rothschild,A., Manouvrier,S., Gonzales,M., Farriaux,J.P.,
            Lyonnet,S. and Munnich,A.
  TITLE     Refined mapping of a gene for split hand-split foot malformation
            (SHFM3) on chromosome 10q25
  JOURNAL   J. Med. Genet. 33 (12), 996-1001 (1996)
   PUBMED   9004130
REFERENCE   5  (bases 1 to 1628)
  AUTHORS   Stadler,H.S., Murray,J.C., Leysens,N.J., Goodfellow,P.J. and
            Solursh,M.
  TITLE     Phylogenetic conservation and physical mapping of members of the H6
            homeobox gene family
  JOURNAL   Mamm. Genome 6 (6), 383-388 (1995)
   PUBMED   7647458
REFERENCE   6  (bases 1 to 1628)
  AUTHORS   Bober,E., Baum,C., Braun,T. and Arnold,H.H.
  TITLE     A novel NK-related mouse homeobox gene: expression in central and
            peripheral nervous structures during embryonic development
  JOURNAL   Dev. Biol. 162 (1), 288-303 (1994)
   PUBMED   7510254
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BQ929484.1 and AC012391.10.
            On Jul 13, 2005 this sequence version replaced gi:42659433.
            
            Summary: The protein encoded by this gene is a member of the NKL
            homeobox family of transcription factors. Members in this family
            are of ancient origin and play an important role in organ
            development during embryogenesis. A related mouse protein plays a
            role in patterning of inner ear structures. In humans, variations
            in a region containing this gene have been associated with inner
            ear malformations, vestibular dysfunction, and hearing loss.
            [provided by RefSeq, Aug 2012].
            
            ##Evidence-Data-START##
            Transcript exon combination :: BQ929484.1, BC132758.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025092 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-606               BQ929484.1         1-606
            607-1628            AC012391.10        102189-103210
FEATURES             Location/Qualifiers
     source          1..1628
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q26.13"
     gene            1..1628
                     /gene="HMX2"
                     /gene_synonym="H6L; Nkx5-2"
                     /note="H6 family homeobox 2"
                     /db_xref="GeneID:3167"
                     /db_xref="HGNC:5018"
                     /db_xref="HPRD:18780"
                     /db_xref="MIM:600647"
     exon            1..525
                     /gene="HMX2"
                     /gene_synonym="H6L; Nkx5-2"
                     /inference="alignment:Splign:1.39.8"
     variation       26
                     /gene="HMX2"
                     /gene_synonym="H6L; Nkx5-2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:139283037"
     variation       219
                     /gene="HMX2"
                     /gene_synonym="H6L; Nkx5-2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:367942691"
     variation       238
                     /gene="HMX2"
                     /gene_synonym="H6L; Nkx5-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:200845862"
     CDS             258..1079
                     /gene="HMX2"
                     /gene_synonym="H6L; Nkx5-2"
                     /note="homeobox protein H6 family member 2; homeo box (H6
                     family) 2"
                     /codon_start=1
                     /product="homeobox protein HMX2"
                     /protein_id="NP_005510.1"
                     /db_xref="GI:70608170"
                     /db_xref="CCDS:CCDS31305.1"
                     /db_xref="GeneID:3167"
                     /db_xref="HGNC:5018"
                     /db_xref="HPRD:18780"
                     /db_xref="MIM:600647"
                     /translation="

MGSKEDAGKGCPAAGGVSSFTIQSILGGGPSEAPREPVGWPARKRSLSVSSEEEEPDDGWKAPACFCPDQHGPKEQGPKHHPPIPFPCLGTPKGSGGSGPGGLERTPFLSPSHSDFKEEKERLLPAGSPSPGSERPRDGGAERQAGAAKKKTRTVFSRSQVYQLESTFDMKRYLSSSERACLASSLQLTETQVKTWFQNRRNKWKRQLSAELEAANMAHASAQTLVSMPLVFRDSSLLRVPVPRSLAFPAPLYYPGSNLSALPLYNLYNKLDY

"
     misc_feature    705..878
                     /gene="HMX2"
                     /gene_synonym="H6L; Nkx5-2"
                     /note="Homeodomain;  DNA binding domains involved in the
                     transcriptional regulation of key eukaryotic developmental
                     processes; may bind to DNA as monomers or as homo- and/or
                     heterodimers, in a sequence-specific manner; Region:
                     homeodomain; cd00086"
                     /db_xref="CDD:28970"
     misc_feature    order(705..719,723..725,774..776,792..794,831..833,
                     837..842,849..854,858..866,870..875)
                     /gene="HMX2"
                     /gene_synonym="H6L; Nkx5-2"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:28970"
     misc_feature    order(711..713,720..722,840..842,849..854,861..863)
                     /gene="HMX2"
                     /gene_synonym="H6L; Nkx5-2"
                     /note="specific DNA base contacts [nucleotide binding];
                     other site"
                     /db_xref="CDD:28970"
     variation       313
                     /gene="HMX2"
                     /gene_synonym="H6L; Nkx5-2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:368195944"
     variation       338
                     /gene="HMX2"
                     /gene_synonym="H6L; Nkx5-2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:140226368"
     variation       355
                     /gene="HMX2"
                     /gene_synonym="H6L; Nkx5-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:372420861"
     variation       358
                     /gene="HMX2"
                     /gene_synonym="H6L; Nkx5-2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:145603738"
     variation       368
                     /gene="HMX2"
                     /gene_synonym="H6L; Nkx5-2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:375117729"
     variation       431
                     /gene="HMX2"
                     /gene_synonym="H6L; Nkx5-2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:201464254"
     variation       471
                     /gene="HMX2"
                     /gene_synonym="H6L; Nkx5-2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:369005055"
     exon            526..1628
                     /gene="HMX2"
                     /gene_synonym="H6L; Nkx5-2"
                     /inference="alignment:Splign:1.39.8"
     variation       553
                     /gene="HMX2"
                     /gene_synonym="H6L; Nkx5-2"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:2421174"
     variation       554
                     /gene="HMX2"
                     /gene_synonym="H6L; Nkx5-2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:2421175"
     variation       567
                     /gene="HMX2"
                     /gene_synonym="H6L; Nkx5-2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:138567035"
     variation       584
                     /gene="HMX2"
                     /gene_synonym="H6L; Nkx5-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:375470480"
     variation       599
                     /gene="HMX2"
                     /gene_synonym="H6L; Nkx5-2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:74546946"
     variation       617
                     /gene="HMX2"
                     /gene_synonym="H6L; Nkx5-2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:201692365"
     variation       633
                     /gene="HMX2"
                     /gene_synonym="H6L; Nkx5-2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:369516504"
     variation       640
                     /gene="HMX2"
                     /gene_synonym="H6L; Nkx5-2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:369429509"
     variation       653
                     /gene="HMX2"
                     /gene_synonym="H6L; Nkx5-2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:202147076"
     variation       679
                     /gene="HMX2"
                     /gene_synonym="H6L; Nkx5-2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:35926160"
     variation       712
                     /gene="HMX2"
                     /gene_synonym="H6L; Nkx5-2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:377351295"
     variation       765
                     /gene="HMX2"
                     /gene_synonym="H6L; Nkx5-2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:199881496"
     variation       788
                     /gene="HMX2"
                     /gene_synonym="H6L; Nkx5-2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:370342358"
     variation       806
                     /gene="HMX2"
                     /gene_synonym="H6L; Nkx5-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:139076039"
     variation       808
                     /gene="HMX2"
                     /gene_synonym="H6L; Nkx5-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:375924624"
     variation       812
                     /gene="HMX2"
                     /gene_synonym="H6L; Nkx5-2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:142992212"
     variation       824
                     /gene="HMX2"
                     /gene_synonym="H6L; Nkx5-2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:369676680"
     variation       853..854
                     /gene="HMX2"
                     /gene_synonym="H6L; Nkx5-2"
                     /replace=""
                     /replace="c"
                     /db_xref="dbSNP:369511308"
     variation       894
                     /gene="HMX2"
                     /gene_synonym="H6L; Nkx5-2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:147548943"
     variation       901
                     /gene="HMX2"
                     /gene_synonym="H6L; Nkx5-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:138544531"
     variation       922
                     /gene="HMX2"
                     /gene_synonym="H6L; Nkx5-2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:145218772"
     variation       938
                     /gene="HMX2"
                     /gene_synonym="H6L; Nkx5-2"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:377729215"
     variation       974
                     /gene="HMX2"
                     /gene_synonym="H6L; Nkx5-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:150671361"
     variation       980
                     /gene="HMX2"
                     /gene_synonym="H6L; Nkx5-2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:139853496"
     variation       1051
                     /gene="HMX2"
                     /gene_synonym="H6L; Nkx5-2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:369213919"
     variation       1080
                     /gene="HMX2"
                     /gene_synonym="H6L; Nkx5-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:371432335"
     variation       1094
                     /gene="HMX2"
                     /gene_synonym="H6L; Nkx5-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:113030328"
     variation       1128
                     /gene="HMX2"
                     /gene_synonym="H6L; Nkx5-2"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:372991131"
     variation       1170
                     /gene="HMX2"
                     /gene_synonym="H6L; Nkx5-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:116559733"
     variation       1383..1384
                     /gene="HMX2"
                     /gene_synonym="H6L; Nkx5-2"
                     /replace=""
                     /replace="g"
                     /db_xref="dbSNP:146476488"
     variation       1472
                     /gene="HMX2"
                     /gene_synonym="H6L; Nkx5-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:77044920"
     variation       1499
                     /gene="HMX2"
                     /gene_synonym="H6L; Nkx5-2"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:77919772"
     variation       1503
                     /gene="HMX2"
                     /gene_synonym="H6L; Nkx5-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:188830849"
     variation       1517
                     /gene="HMX2"
                     /gene_synonym="H6L; Nkx5-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1058359"
     variation       1601..1602
                     /gene="HMX2"
                     /gene_synonym="H6L; Nkx5-2"
                     /replace=""
                     /replace="a"
                     /db_xref="dbSNP:74700237"
     variation       1601
                     /gene="HMX2"
                     /gene_synonym="H6L; Nkx5-2"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:200814632"
     variation       1601
                     /gene="HMX2"
                     /gene_synonym="H6L; Nkx5-2"
                     /replace=""
                     /replace="g"
                     /db_xref="dbSNP:202214173"
     polyA_signal    1609..1614
                     /gene="HMX2"
                     /gene_synonym="H6L; Nkx5-2"
     polyA_site      1628
                     /gene="HMX2"
                     /gene_synonym="H6L; Nkx5-2"
ORIGIN      

cgggcgaggaaggggcatttgcaccggggctgggcgggcgcacccagagccaggcgggcaggaacccctgcgcagccatccggtgcctgcatgtccctggcgcggaagggacgcctcaccagcctcggcgccccctccccctagatttcctccccgcccctccccactgcctgcctgctgcaccaccttccacccagatcacccagatcgtctctaaagggagttcttggtttccttcgatttcttatgaacccaggatgggcagcaaagaagatgcgggcaaggggtgtccggcggccggtggcgtctccagcttcaccatccagtccatcctgggcgggggcccctcggaggcaccgcgggagcccgtcggctggccagccaggaagcgcagcctgtccgtgtcctcggaggaggaggagccggacgacggctggaaggcgcccgcctgcttctgcccagaccagcacggccctaaggagcagggccccaagcaccatccccccatcccttttccttgcctgggtacccccaagggcagcggaggctcgggcccgggcggcttggagcgcacgcctttcctctctccttcgcactcggactttaaagaagagaaagagaggctcctgcccgcgggctcgccctcgccggggtccgagcggccgcgggacggcggcgctgagcggcaggccggcgcggccaagaagaagacgcgcaccgtcttttcgcgcagccaggtgtaccagctcgagtccaccttcgacatgaagcgctacctgagcagctcggagcgcgcctgcctcgcctccagcctgcagctcacggagacccaggtaaagacttggttccagaaccgccgcaacaagtggaagcggcagctctcggctgagctggaggcggccaacatggcgcacgcgtcggcgcagactctggtgagcatgccgctggtgttccgggacagttcgctgctgcgcgtgccggtgccgcgctcgctcgcctttcccgcgccgctctactacccgggaagcaacctctcggccttacctctctacaacctatacaacaagctcgactactgaccggcccgccgccccgcgccgcccccagctgcccgcagagccgggcgcgtactgtactgtaagcagggctccggagcaaggcggcgtgtttccagaaatatgaagaaatacaccatgtgtattcattagctcttatttatggtctctgccctactttttgttttgattgtttcgggtatttattggcattccctaagtcagagagcctgcttcctacctagaccgaaccagtacgctttgaaaaccattcggagtgagatgttctcgggtggtggtgggaaagggagttttggccagacaggctgtggttggtagggaaaaaaatcaggaaaacacctacaaaaccaggtacactcctcccccatatatacacctgtatatatgtacatgcatacacgctcggccaagccaggccctcagaggctttggacaattactaaattgcttcttttcgtttccctcatcccgaggatggtagggacgaaaaggggagagttcagatctgtaaatatttttaaaaagaaaaaaaaataaaacattttaaacatc

//

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:3167 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: IEA
            GeneID:3167 -> Molecular function: GO:0043565 [sequence-specific DNA binding] evidence: IEA
            GeneID:3167 -> Biological process: GO:0006351 [transcription, DNA-dependent] evidence: IEA
            GeneID:3167 -> Biological process: GO:0007420 [brain development] evidence: IEA
            GeneID:3167 -> Biological process: GO:0008284 [positive regulation of cell proliferation] evidence: IEA
            GeneID:3167 -> Biological process: GO:0030154 [cell differentiation] evidence: IEA
            GeneID:3167 -> Biological process: GO:0042472 [inner ear morphogenesis] evidence: IEA
            GeneID:3167 -> Cellular component: GO:0005634 [nucleus] evidence: IEA