LOCUS       NM_005315               2625 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens goosecoid homeobox 2 (GSC2), mRNA.
ACCESSION   NM_005315
VERSION     NM_005315.2
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 2625)
  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   2  (bases 1 to 2625)
  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 2625)
  AUTHORS   Jolma,A., Yan,J., Whitington,T., Toivonen,J., Nitta,K.R.,
            Rastas,P., Morgunova,E., Enge,M., Taipale,M., Wei,G., Palin,K.,
            Vaquerizas,J.M., Vincentelli,R., Luscombe,N.M., Hughes,T.R.,
            Lemaire,P., Ukkonen,E., Kivioja,T. and Taipale,J.
  TITLE     DNA-binding specificities of human transcription factors
  JOURNAL   Cell 152 (1-2), 327-339 (2013)
   PUBMED   23332764
REFERENCE   4  (bases 1 to 2625)
  AUTHORS   Inouye,M., Ripatti,S., Kettunen,J., Lyytikainen,L.P., Oksala,N.,
            Laurila,P.P., Kangas,A.J., Soininen,P., Savolainen,M.J.,
            Viikari,J., Kahonen,M., Perola,M., Salomaa,V., Raitakari,O.,
            Lehtimaki,T., Taskinen,M.R., Jarvelin,M.R., Ala-Korpela,M.,
            Palotie,A. and de Bakker,P.I.
  TITLE     Novel Loci for metabolic networks and multi-tissue expression
            studies reveal genes for atherosclerosis
  JOURNAL   PLoS Genet 8 (8), e1002907 (2012)
   PUBMED   22916037
REFERENCE   5  (bases 1 to 2625)
  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   6  (bases 1 to 2625)
  AUTHORS   Galili,N., Nayak,S., Epstein,J.A. and Buck,C.A.
  TITLE     Rnf4, a RING protein expressed in the developing nervous and
            reproductive systems, interacts with Gscl, a gene within the
            DiGeorge critical region
  JOURNAL   Dev Dyn 218 (1), 102-111 (2000)
   PUBMED   10822263
REFERENCE   7  (bases 1 to 2625)
  AUTHORS   Gottlieb,S., Hanes,S.D., Golden,J.A., Oakey,R.J. and Budarf,M.L.
  TITLE     Goosecoid-like, a gene deleted in DiGeorge and velocardiofacial
            syndromes, recognizes DNA with a bicoid-like specificity and is
            expressed in the developing mouse brain
  JOURNAL   Hum Mol Genet 7 (9), 1497-1505 (1998)
   PUBMED   9700206
REFERENCE   8  (bases 1 to 2625)
  AUTHORS   Funke,B., Saint-Jore,B., Puech,A., Sirotkin,H., Edelmann,L.,
            Carlson,C., Raft,S., Pandita,R.K., Kucherlapati,R., Skoultchi,A.
            and Morrow,B.E.
  TITLE     Characterization and mutation analysis of goosecoid-like (GSCL), a
            homeodomain-containing gene that maps to the critical region for
            VCFS/DGS on 22q11
  JOURNAL   Genomics 46 (3), 364-372 (1997)
   PUBMED   9441739
REFERENCE   9  (bases 1 to 2625)
  AUTHORS   Gottlieb,S., Emanuel,B.S., Driscoll,D.A., Sellinger,B., Wang,Z.,
            Roe,B. and Budarf,M.L.
  TITLE     The DiGeorge syndrome minimal critical region contains a
            goosecoid-like (GSCL) homeobox gene that is expressed early in
            human development
  JOURNAL   Am J Hum Genet 60 (5), 1194-1201 (1997)
   PUBMED   9150167
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC004463.2.
            
            On Feb 27, 2020 this sequence version replaced NM_005315.1.
            
            Summary: Goosecoidlike (GSCL), a homeodomain-containing gene,
            resides in the critical region for VCFS/DGS on 22q11.
            Velocardiofacial syndrome (VCFS) is a developmental disorder
            characterized by conotruncal heart defects, craniofacial anomalies,
            and learning disabilities. VCFS is phenotypically related to
            DiGeorge syndrome (DGS) and both syndromes are associated with
            hemizygous 22q11 deletions. Because many of the tissues and
            structures affected in VCFS/DGS derive from the pharyngeal arches
            of the developing embryo, it is believed that haploinsufficiency of
            a gene involved in embryonic development may be responsible for its
            etiology. The gene is expressed in a limited number of adult
            tissues, as well as in early human development. [provided by
            RefSeq, Jul 2008].
            
            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##
            RNAseq introns :: partial sample support SAMEA1968968, SAMEA2148093
                              [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000086933.3/ ENSP00000086933.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-268               AC004463.2         7039-7306           c
            269-522             AC004463.2         6677-6930           c
            523-2625            AC004463.2         4007-6109           c
FEATURES             Location/Qualifiers
     source          1..2625
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q11.21"
     gene            1..2625
                     /gene="GSC2"
                     /gene_synonym="GSCL"
                     /note="goosecoid homeobox 2"
                     /db_xref="GeneID:2928"
                     /db_xref="HGNC:HGNC:4613"
                     /db_xref="MIM:601845"
     exon            1..268
                     /gene="GSC2"
                     /gene_synonym="GSCL"
                     /inference="alignment:Splign:2.1.0"
     CDS             10..627
                     /gene="GSC2"
                     /gene_synonym="GSCL"
                     /codon_start=1
                     /product="homeobox protein goosecoid-2"
                     /protein_id="NP_005306.1"
                     /db_xref="CCDS:CCDS13757.1"
                     /db_xref="GeneID:2928"
                     /db_xref="HGNC:HGNC:4613"
                     /db_xref="MIM:601845"
                     /translation="MAAAAGGAASRRGAGRPCPFSIEHILSSLPERSLPARAACPPQP
                     AGRQSPAKPEEPGAPEAAPCACCCCCGPRAAPCGPPEAAAGLGARLAWPLRLGPAVPL
                     SLGAPAGGSGALPGAVGPGSQRRTRRHRTIFSEEQLQALEALFVQNQYPDVSTRERLA
                     GRIRLREERVEVWFKNRRAKWRHQKRASASARLLPGVKKSPKGSC"
     exon            269..522
                     /gene="GSC2"
                     /gene_synonym="GSCL"
                     /inference="alignment:Splign:2.1.0"
     exon            523..2625
                     /gene="GSC2"
                     /gene_synonym="GSCL"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2604..2609
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GSC2"
                     /gene_synonym="GSCL"
                     /note="hexamer: AATAAA"
     polyA_site      2625
                     /gene="GSC2"
                     /gene_synonym="GSCL"
                     /note="major polyA site"
ORIGIN      
        1 gggccgggca tggcggcagc ggctgggggc gcggcgagcc gccggggtgc cgggcggccc
       61 tgccccttct ccatcgagca catcctctcc agcctgcccg agcggagcct cccggcccgg
      121 gccgcctgcc caccgcagcc cgccggtcgc cagagccccg cgaagccaga ggagcccggg
      181 gcgcccgagg ctgcgccctg cgcctgctgc tgctgctgcg gcccccgcgc ggcgccctgc
      241 gggcccccag aggcggccgc cgggctgggc gctcgtctgg cgtggccgct gaggctggga
      301 ccggcggtgc ccttgtctct gggtgcgcca gccggaggtt ccggggcgct cccgggcgcg
      361 gtcggcccgg gttcgcagcg gcgcacgagg cgccaccgca ccatcttcag cgaagagcag
      421 ctgcaggcgc tcgaggcgct tttcgtgcag aaccagtatc ctgacgtgag tacgcgcgag
      481 cgcctggccg gccgcatccg ccttcgcgag gagcgcgtgg aggtctggtt caagaaccgc
      541 cgggccaaat ggcgacacca gaagcgcgcg tcggcttccg cgaggctcct gcccggcgtc
      601 aagaagtccc cgaaggggag ctgctgatga ctctaggagc tgcccctggg ctcggccacc
      661 ctttttggga tctttggagt tggcgctgag agaagacagg tctacccgaa aaggagctgg
      721 gagagtacac cggccgcctc cacccgtctc cacagccctt gcctcctgca gctcgtgctg
      781 ccgtggcgct ggggacgggc ccccggtgct tggtgttcca cggcagtggg agtggcgagt
      841 cccttggggg tgggctgggg catagagcag tttcctcagc tccctacccc ccgagagaca
      901 ctaactccac cgcaggaggg gaaccacccc gtatcaacac gggacccaga atcctacgca
      961 gtggagcgtc tctccgcacc ctgggacatg ctggccaccc tcttctcaat gtggacattg
     1021 acctaacttg acctggctcg tcctccccca gcgggagagg ggatggggtt cgtgtctgtg
     1081 cagtcctggc gttgcaggct tcccaggccc tgggctgggt cttggtatct ggacctgtag
     1141 aataagaagg tcgcaggagc gattccagga gcccctccac agtcccttca ccttcgagcc
     1201 tcgcgctgat actgagaaac tagcaacttc aaataccaca gaagccgccc agagtctcaa
     1261 gtccaccttg gctccactcc cacacccaac aaggagctgt cccttcttct tccttcccag
     1321 cgagggggta tttagggtac agctgtcttt gagaggagca cagctcagcg atcctcagtc
     1381 tctgcaccag ggtgctcccc agcagagggg actgctccac ggatggtggc cttggacccc
     1441 tggggtccag ccctggcctc taggctactg tgaacctgcc catgggtgag ggtcccctgc
     1501 ttcctcctgg ggttttcatg ctgtgggctc ggactccctc acagcaatct gtgccatcct
     1561 agggtagggc aagaggaggt tggactgggg agaccccgcc cctgctgcct gggaagatgc
     1621 ctgccctccc cttctttatc ctggcccatg gcaaaaggca cagtggaaag aagccttaga
     1681 ttccccaagt aggccctaca gtgggtccaa agcatctcac atccccaccc ccagctggct
     1741 tgagcacctc gttctgtctc cttacaggcc ctgcagggaa tggggccatt ctacctgcaa
     1801 gagatgaagt ccatctctaa aagcaggact gcagaagcca gggctgcagc tccccagaca
     1861 ccccaaggct ggccagcttg gataacacca agcaagcatg gtgtccccag tcagaactgc
     1921 cctgacactg ctgggtgtcc ctagcatccc cgcctccacc cctagcatgc acacaaagcc
     1981 cttctccctg aaccctggtc ttgcccttgg ggactgaaca gactacctgt ggacatgccc
     2041 gtgtcccagt cagctccctt gcagctgggg acactcgcat ctcacaggct ccaggcccct
     2101 tgagttcctt ggttgaatgg ccatctgtca ttgttttggg agccccgatc agagcttgtg
     2161 gagcgccacc ttccagggct cagtggctgt gttgctctcc tgaatttgct tcttgagctc
     2221 tagctgctcc ttggcaggct gaccccccac agcaggctat taacataggc atccttcacg
     2281 ctcacaccca ggcgctcgct tctcatcttc accctcttcc cggtttatct tttaccctca
     2341 gactccaatt cccatctttc tgccacattt acatctcaag ccaggcactt cccctgagcc
     2401 aggtatttat ctccagctgt ccccttgaag cccacagact ccttaaggtc accttgtcca
     2461 cagtgagctc ttctgtgcaa accaggcaca tgagccagag agctagccgc ccacccgaaa
     2521 ctggtccctg gacccctccc tctcctgatc atccactata cccaggctga caggaagtca
     2581 gttttactgt ttatcaataa atcaataaat cccagaatct ctcca
//
