LOCUS DQ086814 4761 bp mRNA linear HUM 20-JUL-2005
DEFINITION Homo sapiens GLI-Kruppel transcription factor GLI2 (GLI2) mRNA,
complete cds.
ACCESSION DQ086814
VERSION DQ086814.1
KEYWORDS .
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 4761)
AUTHORS Roessler,E., Du,Y.Z., Mullor,J.L., Casas,E., Allen,W.P.,
Gillessen-Kaesbach,G., Roeder,E.R., Ming,J.E., Ruiz i Altaba,A. and
Muenke,M.
TITLE Loss-of-function mutations in the human GLI2 gene are associated
with pituitary anomalies and holoprosencephaly-like features
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 100 (23), 13424-13429 (2003)
PUBMED 14581620
REFERENCE 2 (bases 1 to 4761)
AUTHORS Roessler,E., Ermilov,A.N., Grange,D.K., Wang,A., Grachtchouk,M.,
Dlugosz,A.A. and Muenke,M.
TITLE A previously unidentified amino-terminal domain regulates
transcriptional activity of wild-type and disease-associated human
GLI2
JOURNAL Hum. Mol. Genet. 14 (15), 2181-2188 (2005)
PUBMED 15994174
REFERENCE 3 (bases 1 to 4761)
AUTHORS Roessler,E.
TITLE Direct Submission
JOURNAL Submitted (06-JUN-2005) Medical Genetics Branch, NHGRI. NIH, 9000
Rockville Pike, Bld. 35, 1B-211, Bethesda, MD 20892, USA
FEATURES Location/Qualifiers
source 1..4761
/db_xref="H-InvDB:HIT000341099"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="2"
/map="2q14"
gene 1..4761
/gene="GLI2"
CDS 1..4761
/gene="GLI2"
/codon_start=1
/product="GLI-Kruppel transcription factor GLI2"
/protein_id="AAY87165.1"
/translation="METSASATASEKQEAKSGILEAAGFPDPGKKASPLVVAAAAAAA
VAAQGVPQHLLPPFHAPLPIDMRHQEGRYHYEPHSVHGVHGPPALSGSPVISDISLIR
LSPHPAGPGESPFNAPHPYVNPHMEHYLRSVHSSPTLSMISAARGLSPADVAQEHLKE
RGLFGLPAPGTTPSDYYHQMTLVAGHPAPYGDLLMQSGGAASAPHLHDYLNPVDVSRF
SSPRVTPRLSRKRALSISPLSDASLDLQRMIRTSPNSLVAYINNSRSSSAASGSYGHL
SAGALSPAFTFPHPINPVAYQQILSQQRGLGSAFGHTPPLIQPSPTFLAQQPMALTSI
NATPTQLSSSSNCLSDTNQNKQSSESAVSSTVNPVAIHKRSKVKTEPEGLRPASPLAL
TQGQVSGHGSCGCALPLSQEQLADLKEDLDRDDCKQEAEVVIYETNCHWEDCTKEYDT
QEQLVHHINNEHIHGEKKEFVCRWQACTREQKPFKAQYMLVVHMRRHTGEKPHKCTFE
GCSKAYSRLENLKTHLRSHTGEKPYVCEHEGCNKAFSNASDRAKHQNRTHSNEKPYIC
KIPGCTKRYTDPSSLRKHVKTVHGPDAHVTKKQRNDVHLRTPLLKENGDSEAGTEPGG
PESTEASSTSQAVEDCLHVRAIKTESSGLCQSSPGAQSSCSSEPSPLGSAPNNDSGVE
MPGTGPGSLGDLTALDDTPPGADTSALAAPSAGGLQLRKHMTTMHRFEQLKKEKLKSL
KDSCSWAGPTPHTRNTKLPPLPGSGSILENFSGSGGGGPAGLLPNPRLSELSASEVTM
LSQLQERRDSSTSTVSSAYTVSRRSSGISPYFSSRRSSEASPLGAGRPHNASSADSYD
PISTDASRRSSEASQCSGGSGLLNLTPAQQYSLRAKYAAATGGPPPTPLPGLERMSLR
TRLALLDAPERTLPAGCPRPLGPRRGSDGPTYGHGHAGAAPAFPHEAPGGGARRASDP
VRRPDALSLPRVQRFHSTHNVNPGPLPPCADRRGLRLQSHPSTDGGLARGAYSPRPPS
ISENVAMEAVAAGVDGAGPEADLGLPEDDLVLPDDVVQYIKAHASGALDEGTGQVYPT
ESTGFSDNPRLPSPGLHGQRRMVAADSNVGPSAPMLGGCQLGFGAPSSLNKNNMPVQW
NEVSSGTVDALASQVKPPPFPQGNLAVVQQKPAFGQYPGYSPQGLQASPGGLDSTQPH
LQPRSGAPSQGIPRVNYMQQLRQPVAGSQCPGMTTTMSPHACYGQVHPQLSPSTISGA
LNQFPQSCSNMPAKPGHLGHPQQTEVAPDPTTMGNRHRELGVPDSALAGVPPPHPVQS
YPQQSHHLAASMSQEGYHQVPSLLPARQPGFMEPQTGPMGVATAGFGLVQPRPPLEPS
PTGRHRGVRAVQQQLAYARATGHAMAAMPSSQETAEAVPKGAMGNMGSVPPQPPPQDA
GGAPDHSMLYYYGQIHMYEQDGGLENLGSCQVMRSQPPQPQACQDSIQPQPLPSPGVN
QVSSTVDSQLLEAPQIDFDAIMDDGDHSSLFSGALSPSLLHSLSQNSSRLTTPRNSLT
LPSIPAGISNMAVGDMSSMLTSLAEESKFLNMMT"
BASE COUNT 925 a 1771 c 1393 g 672 t
ORIGIN
1 atggagacgt ctgcctcagc cactgcctcc gagaagcaag aagccaaaag tgggatcctg
61 gaggccgctg gcttccccga cccgggtaaa aaggcctctc ctttggtggt ggctgcagcg
121 gcagcagcag cggtagctgc ccaaggagtg ccgcagcatc tcttgccacc attccatgcg
181 cccctaccga ttgacatgcg acaccaggaa ggaaggtacc attacgagcc tcattctgtc
241 cacggtgtgc acgggccccc tgccctcagc ggcagccctg tcatctctga catctccttg
301 atccggcttt ccccgcaccc ggctggccct ggggagtccc ccttcaacgc cccccacccg
361 tacgtgaacc cccacatgga gcactacctc cgttctgtgc acagcagccc cacgctctcc
421 atgatctctg cagccagggg cctcagcccc gctgatgtgg cccaggagca ccttaaggag
481 aggggactgt ttggccttcc tgctccaggc accaccccct cagactatta ccaccagatg
541 accctcgtgg caggccaccc cgcgccctac ggggacctgc tgatgcagag cgggggcgct
601 gccagcgcac cccatctcca cgactacctc aaccccgtgg acgtgtcccg tttctccagc
661 ccgcgggtga cgccccgcct gagccgcaag cgggcgctgt ccatctcccc actctcagac
721 gccagcctgg acctgcagcg gatgatccgc acctcaccca actcgctagt ggcctacatc
781 aacaactccc gaagcagctc ggcggccagc ggttcctacg ggcatctgtc agcgggtgcc
841 ctcagcccag ccttcacctt cccccacccc atcaaccccg tggcctacca gcagattctg
901 agccagcaga ggggtctggg gtcagccttt ggacacacac cacccctgat ccagccctca
961 cccaccttcc tggcccagca gcccatggcc ctcacctcca tcaatgccac gcccacccag
1021 ctcagcagca gcagcaactg tctgagtgac accaaccaga acaagcagag cagtgagtcg
1081 gccgtcagca gcaccgtcaa ccctgtcgcc attcacaagc gcagcaaggt caagaccgag
1141 cctgagggcc tgcggccggc ctcccctctg gcgctgacgc agggccaggt gtctggacac
1201 ggctcatgtg ggtgtgccct tcccctctcc caggagcagc tggctgacct caaggaagat
1261 ctggacaggg atgactgtaa gcaggaggct gaggtggtca tctatgagac caactgccac
1321 tgggaagact gcaccaagga gtacgacacc caggagcagc tggtgcatca catcaacaac
1381 gagcacatcc acggggagaa gaaggagttt gtgtgccgct ggcaggcctg cacgcgggag
1441 cagaagccct tcaaggcgca gtacatgctg gtggtgcaca tgcggcgaca cacgggcgag
1501 aagccccaca agtgcacgtt cgagggctgc tcgaaggcct actcccgcct ggagaacctg
1561 aagacacacc tgcggtccca caccggggag aagccatatg tgtgtgagca cgagggctgc
1621 aacaaagcct tctccaacgc ctcggaccgc gccaagcacc agaatcgcac ccactccaac
1681 gagaaaccct acatctgcaa gatcccaggc tgcaccaaga gatacacaga ccccagctct
1741 ctccggaagc atgtgaaaac ggtccacggc ccagatgccc acgtcaccaa gaagcagcgc
1801 aatgacgtgc acctccgcac accgctgctc aaagagaatg gggacagtga ggccggcacg
1861 gagcctggcg gcccagagag caccgaggcc agcagcacca gccaggccgt ggaggactgc
1921 ctgcacgtca gagccatcaa gaccgagagc tccgggctgt gtcagtccag ccccggggcc
1981 cagtcgtcct gcagcagcga gccctctcct ctgggcagtg cccccaacaa tgacagtggc
2041 gtggagatgc cggggacggg gcccgggagc ctgggagacc tgacggcact ggatgacaca
2101 cccccagggg ccgacacctc agccctggct gccccctccg ctggtggcct ccagctgcgc
2161 aaacacatga ccaccatgca ccggttcgag cagctcaaga aggagaagct caagtcactc
2221 aaggattcct gctcatgggc cgggccgact ccacacacgc ggaacaccaa gctgcctccc
2281 ctcccgggaa gtggctccat cctggaaaac ttcagtggca gtgggggcgg cgggcccgcg
2341 gggctgctgc cgaacccgcg gctgtcggag ctgtccgcga gcgaggtgac catgctgagc
2401 cagctgcagg agcgccgcga cagctccacc agcacggtca gctcggccta caccgtgagc
2461 cgccgctcct ccggcatctc cccctacttc tccagccgcc gctccagcga ggcctcgccc
2521 ctgggcgccg gccgcccgca caacgcgagc tccgctgact cctacgaccc catctccacg
2581 gacgcgtcgc ggcgctcgag cgaggccagc cagtgcagcg gcggctccgg gctgctcaac
2641 ctcacgccgg cgcagcagta cagcctgcgg gccaagtacg cggcagccac tggcggcccc
2701 ccgcccactc cgctgccggg cctggagcgc atgagcctgc ggaccaggct ggcgctgctg
2761 gacgcgcccg agcgcacgct gcccgccggc tgcccacgcc cactggggcc gcggcgtggc
2821 agcgacgggc cgacctatgg ccacggccac gcgggggctg cgcccgcctt cccccacgag
2881 gctccaggcg gcggagccag gcgggccagc gaccctgtgc ggcggcccga tgccctgtcc
2941 ctgccgcggg tgcagcgctt ccacagcacc cacaacgtga accccggccc gctgccgccc
3001 tgtgccgaca ggcgaggcct ccgcctgcag agccacccga gcaccgacgg cggcctggcc
3061 cgcggcgcct actcgccccg gccgcctagc atcagcgaga acgtggcgat ggaggccgtg
3121 gcggcaggag tggacggcgc ggggcccgag gccgacctgg ggctgccgga ggacgacctg
3181 gtgcttccag acgacgtggt gcagtacatc aaggcgcacg ccagtggcgc tctggacgag
3241 ggcaccgggc aggtgtatcc cacggaaagc actggcttct ctgacaaccc cagactaccc
3301 agcccggggc tgcacggcca gcgcaggatg gtggctgcgg actccaacgt gggcccctcc
3361 gcccctatgc tgggaggatg ccagttaggc tttggggcgc cctccagcct gaacaaaaat
3421 aacatgcctg tgcagtggaa tgaggtgagc tccggcaccg tagacgccct ggccagccag
3481 gtgaagcctc caccctttcc tcagggcaac ctggcggtgg tgcagcagaa gcctgccttt
3541 ggccagtacc cgggctacag tccgcaaggc ctacaggcta gccctggggg cctggacagc
3601 acgcagccac acctgcagcc ccgcagcgga gccccctccc agggcatccc cagggtaaac
3661 tacatgcagc agctgcgaca gccagtggca ggcagccagt gtcctggcat gactaccact
3721 atgagccccc atgcctgcta tggccaagtc cacccccagc tgagccccag caccatcagt
3781 ggggccctca accagttccc ccaatcctgc agcaacatgc cagccaagcc agggcatctg
3841 gggcaccctc agcagacaga agtggcacct gaccccacca cgatgggcaa tcgccacagg
3901 gaacttgggg tccccgattc agccctggct ggagtgccac cacctcaccc agtccagagc
3961 tacccacagc agagccatca cctggcagcc tccatgagcc aggagggcta ccaccaggtc
4021 cccagccttc tgcctgcccg ccagcctggc ttcatggagc cccaaacagg cccgatgggg
4081 gtggctacag caggctttgg cctagtgcag ccccggcctc ccctcgagcc cagccccact
4141 ggccgccacc gtggggtacg tgctgtgcag cagcagctgg cctacgccag ggccacaggc
4201 catgccatgg ctgccatgcc gtccagtcag gaaacagcag aggctgtgcc caagggagcg
4261 atgggcaaca tggggtcggt gcctccccag ccgcctccgc aggacgcagg tggggccccg
4321 gaccacagca tgctctacta ctacggccag atccacatgt acgaacagga tggaggcctg
4381 gagaacctcg ggagctgcca ggtcatgcgg tcccagccac cacagccaca ggcctgtcag
4441 gacagcatcc agccccagcc cttgccctca ccaggggtca accaggtgtc cagcactgtg
4501 gactcccagc tcctggaggc cccccagatt gacttcgatg ccatcatgga tgatggcgat
4561 cactcgagtt tgttctcggg tgctctgagc cccagcctcc tccacagcct ctcccagaac
4621 tcctcccgcc tcaccacccc ccgaaactcc ttgaccctgc cctccatccc cgcaggcatc
4681 agcaacatgg ctgtcgggga catgagctcc atgctcacca gcctcgccga ggagagcaag
4741 ttcctgaaca tgatgaccta g
//