LOCUS       NM_173849               1217 bp    mRNA    linear   PRI 17-APR-2013
DEFINITION  Homo sapiens goosecoid homeobox (GSC), mRNA.
ACCESSION   NM_173849
VERSION     NM_173849.2  GI:29171761
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 1217)
  AUTHORS   Kalisz,M., Winzi,M., Bisgaard,H.C. and Serup,P.
  TITLE     EVEN-SKIPPED HOMEOBOX 1 controls human ES cell differentiation by
            directly repressing GOOSECOID expression
  JOURNAL   Dev. Biol. 362 (1), 94-103 (2012)
   PUBMED   22178155
  REMARK    GeneRIF: GSC represses EVX1 expression and is required for
            development of anterior primitive-streak-like cell progeny in
            response to activin.
REFERENCE   2  (bases 1 to 1217)
  AUTHORS   Hertel,J.K., Johansson,S., Raeder,H., Platou,C.G., Midthjell,K.,
            Hveem,K., Molven,A. and Njolstad,P.R.
  TITLE     Evaluation of four novel genetic variants affecting hemoglobin A1c
            levels in a population-based type 2 diabetes cohort (the HUNT2
            study)
  JOURNAL   BMC Med. Genet. 12, 20 (2011)
   PUBMED   21294870
  REMARK    GeneRIF: the 4 recently reported SNPs,located near BNC2, SORCS1,
            GSC and WDR72 loci, affecting glycemic control in type 1 diabetes
            had no apparent effect on HbA1c in type 2 diabetes; but, for SORCS1
            SNP, findings do not rule out possible relationship with HbA1c
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1217)
  AUTHORS   Zhang,Q., Zhang,J. and Yin,W.
  TITLE     Pedigree and genetic study of a bilateral congenital microtia
            family
  JOURNAL   Plast. Reconstr. Surg. 125 (3), 979-987 (2010)
   PUBMED   20195123
  REMARK    GeneRIF: The goosecoid gene mutation in exon 3 may be involved in
            the malformation events (microtia) in this family.
REFERENCE   4  (bases 1 to 1217)
  AUTHORS   Paterson,A.D., Waggott,D., Boright,A.P., Hosseini,S.M., Shen,E.,
            Sylvestre,M.P., Wong,I., Bharaj,B., Cleary,P.A., Lachin,J.M.,
            Below,J.E., Nicolae,D., Cox,N.J., Canty,A.J., Sun,L. and Bull,S.B.
  CONSRTM   MAGIC (Meta-Analyses of Glucose and Insulin-related traits
            Consortium); Diabetes Control and Complications Trial/Epidemiology
            of Diabetes Interventions and Complications Research Group
  TITLE     A genome-wide association study identifies a novel major locus for
            glycemic control in type 1 diabetes, as measured by both A1C and
            glucose
  JOURNAL   Diabetes 59 (2), 539-549 (2010)
   PUBMED   19875614
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
REFERENCE   5  (bases 1 to 1217)
  AUTHORS   Zhang,Q.G., Zhang,J., Yu,P. and Shen,H.
  TITLE     Environmental and genetic factors associated with congenital
            microtia: a case-control study in Jiangsu, China, 2004 to 2007
  JOURNAL   Plast. Reconstr. Surg. 124 (4), 1157-1164 (2009)
   PUBMED   19935299
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (bases 1 to 1217)
  AUTHORS   Barrios-Rodiles,M., Brown,K.R., Ozdamar,B., Bose,R., Liu,Z.,
            Donovan,R.S., Shinjo,F., Liu,Y., Dembowy,J., Taylor,I.W., Luga,V.,
            Przulj,N., Robinson,M., Suzuki,H., Hayashizaki,Y., Jurisica,I. and
            Wrana,J.L.
  TITLE     High-throughput mapping of a dynamic signaling network in mammalian
            cells
  JOURNAL   Science 307 (5715), 1621-1625 (2005)
   PUBMED   15761153
REFERENCE   7  (bases 1 to 1217)
  AUTHORS   Namciu,S.J., Friedman,R.D., Marsden,M.D., Sarausad,L.M.,
            Jasoni,C.L. and Fournier,R.E.
  TITLE     Sequence organization and matrix attachment regions of the human
            serine protease inhibitor gene cluster at 14q32.1
  JOURNAL   Mamm. Genome 15 (3), 162-178 (2004)
   PUBMED   15014966
REFERENCE   8  (bases 1 to 1217)
  AUTHORS   Foucher,I., Montesinos,M.L., Volovitch,M., Prochiantz,A. and
            Trembleau,A.
  TITLE     Joint regulation of the MAP1B promoter by HNF3beta/Foxa2 and
            Engrailed is the result of a highly conserved mechanism for direct
            interaction of homeoproteins and Fox transcription factors
  JOURNAL   Development 130 (9), 1867-1876 (2003)
   PUBMED   12642491
REFERENCE   9  (bases 1 to 1217)
  AUTHORS   Danilov,V., Blum,M., Schweickert,A., Campione,M. and
            Steinbeisser,H.
  TITLE     Negative autoregulation of the organizer-specific homeobox gene
            goosecoid
  JOURNAL   J. Biol. Chem. 273 (1), 627-635 (1998)
   PUBMED   9417125
REFERENCE   10 (bases 1 to 1217)
  AUTHORS   Blum,M., De Robertis,E.M., Kojis,T., Heinzmann,C., Klisak,I.,
            Geissert,D. and Sparkes,R.S.
  TITLE     Molecular cloning of the human homeobox gene goosecoid (GSC) and
            mapping of the gene to human chromosome 14q32.1
  JOURNAL   Genomics 21 (2), 388-393 (1994)
   PUBMED   7916327
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AY177407.1.
            On Mar 25, 2003 this sequence version replaced gi:27777662.
            
            Summary: This gene encodes a member of the bicoid subfamily of the
            paired (PRD) homeobox family of proteins. The encoded protein acts
            as a transcription factor and may be autoregulatory. A similar
            protein in mice plays a role in craniofacial and rib cage
            development during embryogenesis. [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 :: AY177407.1, BC063580.1 [ECO:0000332]
            RNAseq introns              :: mixed/partial sample support
                                           ERS025081, ERS025084 [ECO:0000350]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..1217
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q32.1"
     gene            1..1217
                     /gene="GSC"
                     /note="goosecoid homeobox"
                     /db_xref="GeneID:145258"
                     /db_xref="HGNC:4612"
                     /db_xref="HPRD:15928"
                     /db_xref="MIM:138890"
     exon            1..502
                     /gene="GSC"
                     /inference="alignment:Splign:1.39.8"
     variation       complement(84..85)
                     /gene="GSC"
                     /replace=""
                     /replace="c"
                     /db_xref="dbSNP:57600257"
     variation       complement(84)
                     /gene="GSC"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:377469125"
     variation       complement(122)
                     /gene="GSC"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:183171414"
     variation       complement(125)
                     /gene="GSC"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:374459562"
     CDS             148..921
                     /gene="GSC"
                     /codon_start=1
                     /product="homeobox protein goosecoid"
                     /protein_id="NP_776248.1"
                     /db_xref="GI:27777663"
                     /db_xref="CCDS:CCDS9930.1"
                     /db_xref="GeneID:145258"
                     /db_xref="HGNC:4612"
                     /db_xref="HPRD:15928"
                     /db_xref="MIM:138890"
                     /translation="

MPASMFSIDNILAARPRCKDSVLPVAHSAAAPVVFPALHGDSLYGASGGASSDYGAFYPRPVAPGGAGLPAAVSGSRLGYNNYFYGQLHVQAAPVGPACCGAVPPLGAQQCSCVPTPPGYEGPGSVLVSPVPHQMLPYMNVGTLSRTELQLLNQLHCRRKRRHRTIFTDEQLEALENLFQETKYPDVGTREQLARKVHLREEKVEVWFKNRRAKWRRQKRSSSEESENAEKWNKTSSSKASPEKREEEGKSDLDSDS

"
     misc_feature    628..804
                     /gene="GSC"
                     /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(628..642,646..648,697..699,715..717,754..756,
                     760..765,772..777,781..789,793..798)
                     /gene="GSC"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:28970"
     misc_feature    order(634..636,643..645,763..765,772..777,784..786)
                     /gene="GSC"
                     /note="specific DNA base contacts [nucleotide binding];
                     other site"
                     /db_xref="CDD:28970"
     STS             157..921
                     /gene="GSC"
                     /standard_name="Gsc"
                     /db_xref="UniSTS:547232"
     variation       complement(158)
                     /gene="GSC"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:200899998"
     variation       complement(165..166)
                     /gene="GSC"
                     /replace=""
                     /replace="c"
                     /db_xref="dbSNP:34043238"
     variation       complement(237)
                     /gene="GSC"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:376492521"
     variation       complement(255)
                     /gene="GSC"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:191352872"
     variation       complement(266..267)
                     /gene="GSC"
                     /replace=""
                     /replace="c"
                     /db_xref="dbSNP:34263175"
     variation       complement(306)
                     /gene="GSC"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:370207480"
     variation       complement(361)
                     /gene="GSC"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:145932252"
     exon            503..762
                     /gene="GSC"
                     /inference="alignment:Splign:1.39.8"
     variation       complement(538)
                     /gene="GSC"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:376420400"
     variation       complement(567)
                     /gene="GSC"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:144777037"
     variation       complement(609)
                     /gene="GSC"
                     /replace="a"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:149410963"
     STS             630..926
                     /gene="GSC"
                     /standard_name="Gsc"
                     /db_xref="UniSTS:531418"
     variation       complement(699)
                     /gene="GSC"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:117555620"
     variation       complement(706)
                     /gene="GSC"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:369844550"
     variation       complement(753)
                     /gene="GSC"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:376810813"
     exon            763..1189
                     /gene="GSC"
                     /inference="alignment:Splign:1.39.8"
     variation       complement(778..779)
                     /gene="GSC"
                     /replace=""
                     /replace="c"
                     /db_xref="dbSNP:141452513"
     variation       complement(861)
                     /gene="GSC"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:368086868"
     variation       complement(888)
                     /gene="GSC"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:199891655"
     variation       complement(945)
                     /gene="GSC"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:371496658"
     variation       complement(969)
                     /gene="GSC"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:369236695"
     variation       complement(976)
                     /gene="GSC"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:368987305"
     variation       complement(996)
                     /gene="GSC"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:138867999"
     variation       complement(1012)
                     /gene="GSC"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:377299455"
     polyA_signal    1170..1175
                     /gene="GSC"
     variation       complement(1184)
                     /gene="GSC"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:377283111"
     polyA_site      1189
                     /gene="GSC"
                     /experiment="experimental evidence, no additional details
                     recorded"
ORIGIN      

agggggcggggaggggcgcagggctgcgcgctcgccggcgctctctttcggtttggtcggcggctggaggagagtggacccccccactttaaggctctgtcctcggcgcgttcccgccgccccccggtcccgacgcggggctcggggatgcccgccagcatgttcagcatcgacaacatcctagccgcccggccgcgctgcaaggactcggtgttgccggtggcgcacagcgcggcggctcccgtcgtcttcccggccctgcacggggactcgctctacggcgccagcggcggcgcctcctcggactatggcgccttctacccgcgccccgtggcccccggcggcgcgggcctcccggccgcggtcagcggctcccgcctcggctacaacaactacttctacgggcagctgcacgtgcaggcggcgcccgtgggcccggcctgctgcggggccgtgccgccgctgggcgcccagcagtgctcctgcgtcccgacgcccccaggctacgagggccccggttcggtgctggtgtccccggtaccgcaccagatgctgccctacatgaacgtgggcacgctgtcgcgcaccgagctgcagcttctcaaccagctgcactgtcggcggaagcggcggcaccgcaccatcttcactgacgagcagctcgaagctctcgagaacctcttccaggagaccaagtacccggacgtgggcacgcgcgagcagctggcccggaaagtgcacctccgcgaggagaaagtggaggtctggtttaagaaccgccgcgccaaatggaggcggcagaagcggtcctcatcagaggagtcggagaacgcggagaagtggaacaagacgtcgtcgtcgaaggcgtcaccggagaagagggaagaggaaggtaaaagcgatttggactcggacagctgacggccgcgggacacttgcccgtattacttacctaactcgaaggacttgcacagacagacgatgctactttcttgcacacgcgctgccttgcgggagggggtcgagaaagaggaacgaggagctgtaaatagtgtacagagccgggagggtcggcgtctggggtcagggcgcgcacagcccagcagcccgaggccgcccgcgactagcccccaccgtagtatttatagttaaattaagggtgacagtacaataaagtgatggcgatgtaaaaaaaaaaaaaaaaaaaaaaaaaaaaa

//

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:145258 -> Molecular function: GO:0001085 [RNA polymerase II transcription factor binding] evidence: ISS
            GeneID:145258 -> Molecular function: GO:0001103 [RNA polymerase II repressing transcription factor binding] evidence: ISS
            GeneID:145258 -> Molecular function: GO:0003677 [DNA binding] evidence: NAS
            GeneID:145258 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: IEA
            GeneID:145258 -> Molecular function: GO:0043565 [sequence-specific DNA binding] evidence: IEA
            GeneID:145258 -> Biological process: GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] evidence: IEA
            GeneID:145258 -> Biological process: GO:0007369 [gastrulation] evidence: NAS
            GeneID:145258 -> Biological process: GO:0021904 [dorsal/ventral neural tube patterning] evidence: IEA
            GeneID:145258 -> Biological process: GO:0023019 [signal transduction involved in regulation of gene expression] evidence: IEA
            GeneID:145258 -> Biological process: GO:0030178 [negative regulation of Wnt receptor signaling pathway] evidence: IEA
            GeneID:145258 -> Biological process: GO:0030900 [forebrain development] evidence: IEA
            GeneID:145258 -> Biological process: GO:0042474 [middle ear morphogenesis] evidence: ISS
            GeneID:145258 -> Biological process: GO:0048644 [muscle organ morphogenesis] evidence: IEA
            GeneID:145258 -> Biological process: GO:0048704 [embryonic skeletal system morphogenesis] evidence: IEA
            GeneID:145258 -> Cellular component: GO:0005634 [nucleus] evidence: NAS
            GeneID:145258 -> Cellular component: GO:0005667 [transcription factor complex] evidence: IEA