LOCUS       NM_021193                813 bp    mRNA    linear   PRI 13-APR-2013
DEFINITION  Homo sapiens homeobox D12 (HOXD12), mRNA.
ACCESSION   NM_021193
VERSION     NM_021193.3  GI:194353945
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 813)
  AUTHORS   Sugie,Y., Sugie,H., Fukuda,T. and Osawa,J.
  TITLE     Study of HOXD genes in autism particularly regarding the ratio of
            second to fourth digit length
  JOURNAL   Brain Dev. 32 (5), 356-361 (2010)
   PUBMED   19540081
  REMARK    GeneRIF: data show no significant difference in HOXD11, HOXD12 &
            HOXD13 genotype frequencies between the autism spectrum disorder &
            healthy controls, but one SNP in promoter region of HOXD11 was
            observed in only 4 patients with ASD
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   2  (bases 1 to 813)
  AUTHORS   Woo,C.J., Kharchenko,P.V., Daheron,L., Park,P.J. and Kingston,R.E.
  TITLE     A region of the human HOXD cluster that confers polycomb-group
            responsiveness
  JOURNAL   Cell 140 (1), 99-110 (2010)
   PUBMED   20085705
  REMARK    GeneRIF: In human embryonic stem cell (hESCs)differentiation, a
            1.8kb region between HOXD11 and HOXD12 (D11.12) that is associated
            with PcG proteins was discovered, it shows alteration in nuclease
            sensitivity as hESCs differentiate.
REFERENCE   3  (bases 1 to 813)
  AUTHORS   Ester,A.R., Weymouth,K.S., Burt,A., Wise,C.A., Scott,A.,
            Gurnett,C.A., Dobbs,M.B., Blanton,S.H. and Hecht,J.T.
  TITLE     Altered transmission of HOX and apoptotic SNPs identify a potential
            common pathway for clubfoot
  JOURNAL   Am. J. Med. Genet. A 149A (12), 2745-2752 (2009)
   PUBMED   19938081
  REMARK    GeneRIF: Observational study of gene-disease association and
            gene-gene interaction. (HuGE Navigator)
REFERENCE   4  (bases 1 to 813)
  AUTHORS   Yerges,L.M., Klei,L., Cauley,J.A., Roeder,K., Kammerer,C.M.,
            Moffett,S.P., Ensrud,K.E., Nestlerode,C.S., Marshall,L.M.,
            Hoffman,A.R., Lewis,C., Lang,T.F., Barrett-Connor,E., Ferrell,R.E.,
            Orwoll,E.S. and Zmuda,J.M.
  CONSRTM   MrOS Research Group
  TITLE     High-density association study of 383 candidate genes for
            volumetric BMD at the femoral neck and lumbar spine among older men
  JOURNAL   J. Bone Miner. Res. 24 (12), 2039-2049 (2009)
   PUBMED   19453261
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (bases 1 to 813)
  AUTHORS   Zhao,X., Sun,M., Zhao,J., Leyva,J.A., Zhu,H., Yang,W., Zeng,X.,
            Ao,Y., Liu,Q., Liu,G., Lo,W.H., Jabs,E.W., Amzel,L.M., Shan,X. and
            Zhang,X.
  TITLE     Mutations in HOXD13 underlie syndactyly type V and a novel
            brachydactyly-syndactyly syndrome
  JOURNAL   Am. J. Hum. Genet. 80 (2), 361-371 (2007)
   PUBMED   17236141
REFERENCE   6  (bases 1 to 813)
  AUTHORS   Del Campo,M., Jones,M.C., Veraksa,A.N., Curry,C.J., Jones,K.L.,
            Mascarello,J.T., Ali-Kahn-Catts,Z., Drumheller,T. and McGinnis,W.
  TITLE     Monodactylous limbs and abnormal genitalia are associated with
            hemizygosity for the human 2q31 region that includes the HOXD
            cluster
  JOURNAL   Am. J. Hum. Genet. 65 (1), 104-110 (1999)
   PUBMED   10364522
REFERENCE   7  (bases 1 to 813)
  AUTHORS   Shen,W.F., Montgomery,J.C., Rozenfeld,S., Moskow,J.J.,
            Lawrence,H.J., Buchberg,A.M. and Largman,C.
  TITLE     AbdB-like Hox proteins stabilize DNA binding by the Meis1
            homeodomain proteins
  JOURNAL   Mol. Cell. Biol. 17 (11), 6448-6458 (1997)
   PUBMED   9343407
REFERENCE   8  (bases 1 to 813)
  AUTHORS   Johnson,R.L. and Tabin,C.J.
  TITLE     Molecular models for vertebrate limb development
  JOURNAL   Cell 90 (6), 979-990 (1997)
   PUBMED   9323126
  REMARK    Review article
REFERENCE   9  (bases 1 to 813)
  AUTHORS   D'Esposito,M., Morelli,F., Acampora,D., Migliaccio,E., Simeone,A.
            and Boncinelli,E.
  TITLE     EVX2, a human homeobox gene homologous to the even-skipped
            segmentation gene, is localized at the 5' end of HOX4 locus on
            chromosome 2
  JOURNAL   Genomics 10 (1), 43-50 (1991)
   PUBMED   1675198
REFERENCE   10 (bases 1 to 813)
  AUTHORS   Acampora,D., D'Esposito,M., Faiella,A., Pannese,M., Migliaccio,E.,
            Morelli,F., Stornaiuolo,A., Nigro,V., Simeone,A. and Boncinelli,E.
  TITLE     The human HOX gene family
  JOURNAL   Nucleic Acids Res. 17 (24), 10385-10402 (1989)
   PUBMED   2574852
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC069088.1 and BG031716.1.
            On Jul 22, 2008 this sequence version replaced gi:23510369.
            
            Summary: This gene belongs to the homeobox family of genes. The
            homeobox genes encode a highly conserved family of transcription
            factors that play an important role in morphogenesis in all
            multicellular organisms. Mammals possess four similar homeobox gene
            clusters, HOXA, HOXB, HOXC and HOXD, located on different
            chromosomes, consisting of 9 to 11 genes arranged in tandem. This
            gene is one of several homeobox HOXD genes located in a cluster on
            chromosome 2. Deletions that remove the entire HOXD gene cluster or
            the 5' end of this cluster have been associated with severe limb
            and genital abnormalities. The exact role of this gene has not been
            determined. [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 :: BG031716.1 [ECO:0000332]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-512               BC069088.1         1-512
            513-813             BG031716.1         1-301
FEATURES             Location/Qualifiers
     source          1..813
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q31.1"
     gene            1..813
                     /gene="HOXD12"
                     /gene_synonym="HOX4H"
                     /note="homeobox D12"
                     /db_xref="GeneID:3238"
                     /db_xref="HGNC:5135"
                     /db_xref="MIM:142988"
     CDS             1..813
                     /gene="HOXD12"
                     /gene_synonym="HOX4H"
                     /note="homeo box D12; Hox-4.7, mouse, homolog of; homeobox
                     protein Hox-4H"
                     /codon_start=1
                     /product="homeobox protein Hox-D12"
                     /protein_id="NP_067016.3"
                     /db_xref="GI:194353946"
                     /db_xref="CCDS:CCDS46456.1"
                     /db_xref="GeneID:3238"
                     /db_xref="HGNC:5135"
                     /db_xref="MIM:142988"
                     /translation="

MCERSLYRAGYVGSLLNLQSPDSFYFSNLRPNGGQLAALPPISYPRGALPWAATPASCAPAQPAGATAFGGFSQPYLAGSGPLGLQPPTAKDGPEEQAKFYAPEAAAGPEERGRTRPSFAPESSLAPAVAALKAAKYDYAGVGRATPGSTTLLQGAPCAPGFKDDTKGPLNLNMTVQAAGVASCLRPSLPDGLPWGAAPGRARKKRKPYTKQQIAELENEFLVNEFINRQKRKELSNRLNLSDQQVKIWFQNRRMKKKRVVLREQALALY

"
     misc_feature    607..777
                     /gene="HOXD12"
                     /gene_synonym="HOX4H"
                     /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(607..621,625..627,676..678,694..696,733..735,
                     739..744,751..756,760..768,772..777)
                     /gene="HOXD12"
                     /gene_synonym="HOX4H"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:28970"
     misc_feature    order(613..615,622..624,742..744,751..756,763..765)
                     /gene="HOXD12"
                     /gene_synonym="HOX4H"
                     /note="specific DNA base contacts [nucleotide binding];
                     other site"
                     /db_xref="CDD:28970"
     STS             1..813
                     /gene="HOXD12"
                     /gene_synonym="HOX4H"
                     /db_xref="UniSTS:480513"
     exon            1..574
                     /gene="HOXD12"
                     /gene_synonym="HOX4H"
                     /inference="alignment:Splign:1.39.8"
     variation       28
                     /gene="HOXD12"
                     /gene_synonym="HOX4H"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:368927800"
     variation       32
                     /gene="HOXD12"
                     /gene_synonym="HOX4H"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:372974678"
     variation       52
                     /gene="HOXD12"
                     /gene_synonym="HOX4H"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:377187797"
     variation       100
                     /gene="HOXD12"
                     /gene_synonym="HOX4H"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:370358369"
     variation       124
                     /gene="HOXD12"
                     /gene_synonym="HOX4H"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:202101963"
     variation       168
                     /gene="HOXD12"
                     /gene_synonym="HOX4H"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:370337563"
     variation       180
                     /gene="HOXD12"
                     /gene_synonym="HOX4H"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:374059269"
     variation       183
                     /gene="HOXD12"
                     /gene_synonym="HOX4H"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:200539698"
     variation       197
                     /gene="HOXD12"
                     /gene_synonym="HOX4H"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:367585361"
     variation       204
                     /gene="HOXD12"
                     /gene_synonym="HOX4H"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:376832205"
     variation       223
                     /gene="HOXD12"
                     /gene_synonym="HOX4H"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:146731562"
     variation       230
                     /gene="HOXD12"
                     /gene_synonym="HOX4H"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:201839891"
     variation       242
                     /gene="HOXD12"
                     /gene_synonym="HOX4H"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:2551807"
     variation       297
                     /gene="HOXD12"
                     /gene_synonym="HOX4H"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:371388978"
     variation       305
                     /gene="HOXD12"
                     /gene_synonym="HOX4H"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:139519037"
     variation       324
                     /gene="HOXD12"
                     /gene_synonym="HOX4H"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:140276133"
     variation       352
                     /gene="HOXD12"
                     /gene_synonym="HOX4H"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:370271572"
     variation       366
                     /gene="HOXD12"
                     /gene_synonym="HOX4H"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:34753273"
     variation       375
                     /gene="HOXD12"
                     /gene_synonym="HOX4H"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:847151"
     variation       386
                     /gene="HOXD12"
                     /gene_synonym="HOX4H"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:371620811"
     variation       400
                     /gene="HOXD12"
                     /gene_synonym="HOX4H"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:376577026"
     variation       418
                     /gene="HOXD12"
                     /gene_synonym="HOX4H"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:33921199"
     variation       433
                     /gene="HOXD12"
                     /gene_synonym="HOX4H"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:372364913"
     variation       438
                     /gene="HOXD12"
                     /gene_synonym="HOX4H"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:375386525"
     variation       439
                     /gene="HOXD12"
                     /gene_synonym="HOX4H"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:369707719"
     variation       441
                     /gene="HOXD12"
                     /gene_synonym="HOX4H"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:373073649"
     variation       478
                     /gene="HOXD12"
                     /gene_synonym="HOX4H"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:374833814"
     variation       513
                     /gene="HOXD12"
                     /gene_synonym="HOX4H"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:200595232"
     variation       557
                     /gene="HOXD12"
                     /gene_synonym="HOX4H"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:35817516"
     variation       573
                     /gene="HOXD12"
                     /gene_synonym="HOX4H"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:200423501"
     exon            575..813
                     /gene="HOXD12"
                     /gene_synonym="HOX4H"
                     /inference="alignment:Splign:1.39.8"
     variation       582
                     /gene="HOXD12"
                     /gene_synonym="HOX4H"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:377671334"
     variation       591
                     /gene="HOXD12"
                     /gene_synonym="HOX4H"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:370971437"
     variation       605
                     /gene="HOXD12"
                     /gene_synonym="HOX4H"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:2593776"
     variation       644
                     /gene="HOXD12"
                     /gene_synonym="HOX4H"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:200022510"
     variation       649
                     /gene="HOXD12"
                     /gene_synonym="HOX4H"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:374634672"
     variation       662
                     /gene="HOXD12"
                     /gene_synonym="HOX4H"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:201890634"
     variation       676
                     /gene="HOXD12"
                     /gene_synonym="HOX4H"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:370963153"
     variation       678
                     /gene="HOXD12"
                     /gene_synonym="HOX4H"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:374418286"
     variation       684
                     /gene="HOXD12"
                     /gene_synonym="HOX4H"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:200878101"
     variation       695
                     /gene="HOXD12"
                     /gene_synonym="HOX4H"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:370854190"
     variation       710
                     /gene="HOXD12"
                     /gene_synonym="HOX4H"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:199589140"
     variation       713
                     /gene="HOXD12"
                     /gene_synonym="HOX4H"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:200542466"
     variation       754
                     /gene="HOXD12"
                     /gene_synonym="HOX4H"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:371944705"
     variation       761
                     /gene="HOXD12"
                     /gene_synonym="HOX4H"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:375056968"
     variation       763
                     /gene="HOXD12"
                     /gene_synonym="HOX4H"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:368697335"
     variation       772
                     /gene="HOXD12"
                     /gene_synonym="HOX4H"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:372188817"
     variation       790
                     /gene="HOXD12"
                     /gene_synonym="HOX4H"
                     /replace="a"
                     /replace="c"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:200302685"
ORIGIN      

atgtgtgagcgcagtctctacagagcgggctatgtgggctcgcttctgaatctgcagtcgccagactctttctacttctccaacctgaggccgaatggcggccagttggccgcgcttccccctatctcctacccgcgcggcgcgctgccctgggccgccacgcccgcctcctgcgcccccgcgcagcctgcgggcgccactgccttcggcggcttctcgcagccctacctggctggctccgggcctctcggcctgcagcccccaacagccaaagacggacccgaagagcaggctaagttctatgcgcccgaagcggccgctgggccagaggagcgcggtcgtacccggccgtccttcgcccccgagtctagcctggctcctgcagtggctgctctcaaagcggccaagtatgactacgctggtgtgggtcgtgccacgccgggctccacgaccctgctccagggggctccctgcgcccctggcttcaaggacgacaccaagggcccgctcaacttgaacatgacagtgcaggcggcgggcgttgcctcttgcctgcgaccttcactgcccgacggcctgccgtggggggcggccccggggagggcccgcaagaagcggaaaccctacacgaagcagcagattgcggagttggagaacgaattcctcgtcaacgaattcatcaacaggcagaaacgcaaggaattgtccaataggctgaacctcagcgaccagcaagtcaaaatctggttccagaacaggcgtatgaagaagaagcgcgtggtgcttcgggagcaggcgctggcgctctactag

//

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:3238 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: NAS
            GeneID:3238 -> Molecular function: GO:0043565 [sequence-specific DNA binding] evidence: IEA
            GeneID:3238 -> Biological process: GO:0001501 [skeletal system development] evidence: IEA
            GeneID:3238 -> Biological process: GO:0006351 [transcription, DNA-dependent] evidence: IEA
            GeneID:3238 -> Biological process: GO:0006355 [regulation of transcription, DNA-dependent] evidence: NAS
            GeneID:3238 -> Biological process: GO:0007275 [multicellular organismal development] evidence: NAS
            GeneID:3238 -> Biological process: GO:0007389 [pattern specification process] evidence: IEA
            GeneID:3238 -> Biological process: GO:0042733 [embryonic digit morphogenesis] evidence: IEA
            GeneID:3238 -> Cellular component: GO:0000228 [nuclear chromosome] evidence: NAS
            GeneID:3238 -> Cellular component: GO:0005667 [transcription factor complex] evidence: IEA