LOCUS       NM_005519               1614 bp    mRNA    linear   PRI 11-JUN-2024
DEFINITION  Homo sapiens H6 family homeobox 2 (HMX2), mRNA.
ACCESSION   NM_005519 XM_370580
VERSION     NM_005519.2
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 1614)
  AUTHORS   Nagel,S., Pommerenke,C., Meyer,C., MacLeod,R.A.F. and Drexler,H.G.
  TITLE     Aberrant expression of NKL homeobox genes HMX2 and HMX3 interferes
            with cell differentiation in acute myeloid leukemia
  JOURNAL   PLoS One 15 (10), e0240120 (2020)
   PUBMED   33048949
  REMARK    GeneRIF: Aberrant expression of NKL homeobox genes HMX2 and HMX3
            interferes with cell differentiation in acute myeloid leukemia.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1614)
  AUTHORS   Yin,Y., Morgunova,E., Jolma,A., Kaasinen,E., Sahu,B.,
            Khund-Sayeed,S., Das,P.K., Kivioja,T., Dave,K., Zhong,F.,
            Nitta,K.R., Taipale,M., Popov,A., Ginno,P.A., Domcke,S., Yan,J.,
            Schubeler,D., Vinson,C. and Taipale,J.
  TITLE     Impact of cytosine methylation on DNA binding specificities of
            human transcription factors
  JOURNAL   Science 356 (6337) (2017)
   PUBMED   28473536
REFERENCE   3  (bases 1 to 1614)
  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   4  (bases 1 to 1614)
  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   5  (bases 1 to 1614)
  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   6  (bases 1 to 1614)
  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   7  (bases 1 to 1614)
  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   8  (bases 1 to 1614)
  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 Aug 11, 2020 this sequence version replaced NM_005519.1.
            
            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 :: BC137139.1, SRR1163658.148280.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1970526, SAMEA2145774
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000339992.4/ ENSP00000341108.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-592               BQ929484.1         15-606
            593-1614            AC012391.10        102189-103210
FEATURES             Location/Qualifiers
     source          1..1614
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q26.13"
     gene            1..1614
                     /gene="HMX2"
                     /gene_synonym="H6L; Nkx5-2"
                     /note="H6 family homeobox 2"
                     /db_xref="GeneID:3167"
                     /db_xref="HGNC:HGNC:5018"
                     /db_xref="MIM:600647"
     exon            1..511
                     /gene="HMX2"
                     /gene_synonym="H6L; Nkx5-2"
                     /inference="alignment:Splign:2.1.0"
     CDS             244..1065
                     /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="CCDS:CCDS31305.1"
                     /db_xref="GeneID:3167"
                     /db_xref="HGNC:HGNC:5018"
                     /db_xref="MIM:600647"
                     /translation="MGSKEDAGKGCPAAGGVSSFTIQSILGGGPSEAPREPVGWPARK
                     RSLSVSSEEEEPDDGWKAPACFCPDQHGPKEQGPKHHPPIPFPCLGTPKGSGGSGPGG
                     LERTPFLSPSHSDFKEEKERLLPAGSPSPGSERPRDGGAERQAGAAKKKTRTVFSRSQ
                     VYQLESTFDMKRYLSSSERACLASSLQLTETQVKTWFQNRRNKWKRQLSAELEAANMA
                     HASAQTLVSMPLVFRDSSLLRVPVPRSLAFPAPLYYPGSNLSALPLYNLYNKLDY"
     exon            512..1614
                     /gene="HMX2"
                     /gene_synonym="H6L; Nkx5-2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1595..1600
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HMX2"
                     /gene_synonym="H6L; Nkx5-2"
                     /note="hexamer: AATAAA"
     polyA_site      1614
                     /gene="HMX2"
                     /gene_synonym="H6L; Nkx5-2"
                     /note="major polyA site"
ORIGIN      
        1 gcatttgcac cggggctggg cgggcgcacc cagagccagg cgggcaggaa cccctgcgca
       61 gccatccggt gcctgcatgt ccctggcgcg gaagggacgc ctcaccagcc tcggcgcccc
      121 ctccccctag atttcctccc cgcccctccc cactgcctgc ctgctgcacc accttccacc
      181 cagatcaccc agatcgtctc taaagggagt tcttggtttc cttcgatttc ttatgaaccc
      241 aggatgggca gcaaagaaga tgcgggcaag gggtgtccgg cggccggtgg cgtctccagc
      301 ttcaccatcc agtccatcct gggcgggggc ccctcggagg caccgcggga gcccgtcggc
      361 tggccagcca ggaagcgcag cctgtccgtg tcctcggagg aggaggagcc ggacgacggc
      421 tggaaggcgc ccgcctgctt ctgcccagac cagcacggcc ctaaggagca gggccccaag
      481 caccatcccc ccatcccttt tccttgcctg ggtaccccca agggcagcgg aggctcgggc
      541 ccgggcggct tggagcgcac gcctttcctc tctccttcgc actcggactt taaagaagag
      601 aaagagaggc tcctgcccgc gggctcgccc tcgccggggt ccgagcggcc gcgggacggc
      661 ggcgctgagc ggcaggccgg cgcggccaag aagaagacgc gcaccgtctt ttcgcgcagc
      721 caggtgtacc agctcgagtc caccttcgac atgaagcgct acctgagcag ctcggagcgc
      781 gcctgcctcg cctccagcct gcagctcacg gagacccagg taaagacttg gttccagaac
      841 cgccgcaaca agtggaagcg gcagctctcg gctgagctgg aggcggccaa catggcgcac
      901 gcgtcggcgc agactctggt gagcatgccg ctggtgttcc gggacagttc gctgctgcgc
      961 gtgccggtgc cgcgctcgct cgcctttccc gcgccgctct actacccggg aagcaacctc
     1021 tcggccttac ctctctacaa cctatacaac aagctcgact actgaccggc ccgccgcccc
     1081 gcgccgcccc cagctgcccg cagagccggg cgcgtactgt actgtaagca gggctccgga
     1141 gcaaggcggc gtgtttccag aaatatgaag aaatacacca tgtgtattca ttagctctta
     1201 tttatggtct ctgccctact ttttgttttg attgtttcgg gtatttattg gcattcccta
     1261 agtcagagag cctgcttcct acctagaccg aaccagtacg ctttgaaaac cattcggagt
     1321 gagatgttct cgggtggtgg tgggaaaggg agttttggcc agacaggctg tggttggtag
     1381 ggaaaaaaat caggaaaaca cctacaaaac caggtacact cctcccccat atatacacct
     1441 gtatatatgt acatgcatac acgctcggcc aagccaggcc ctcagaggct ttggacaatt
     1501 actaaattgc ttcttttcgt ttccctcatc ccgaggatgg tagggacgaa aaggggagag
     1561 ttcagatctg taaatatttt taaaaagaaa aaaaaataaa acattttaaa catc
//
