LOCUS NM_015094 6812 bp mRNA linear PRI 20-OCT-2018
DEFINITION Homo sapiens HIC ZBTB transcriptional repressor 2 (HIC2), mRNA.
ACCESSION NM_015094
VERSION NM_015094.2
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 6812)
AUTHORS Dykes IM, van Bueren KL, Ashmore RJ, Floss T, Wurst W, Szumska D,
Bhattacharya S and Scambler PJ.
TITLE HIC2 is a novel dosage-dependent regulator of cardiac development
located within the distal 22q11 deletion syndrome region
JOURNAL Circ. Res. 115 (1), 23-31 (2014)
PUBMED 24748541
REMARK GeneRIF: data suggest that HIC2 haploinsufficiency likely
contributes to the cardiac defects seen in distal 22q11 deletion
syndrome
REFERENCE 2 (bases 1 to 6812)
AUTHORS Kamatani Y, Matsuda K, Okada Y, Kubo M, Hosono N, Daigo Y, Nakamura
Y and Kamatani N.
TITLE Genome-wide association study of hematological and biochemical
traits in a Japanese population
JOURNAL Nat. Genet. 42 (3), 210-215 (2010)
PUBMED 20139978
REFERENCE 3 (bases 1 to 6812)
AUTHORS Han,J.W., Zheng,H.F., Cui,Y., Sun,L.D., Ye,D.Q., Hu,Z., Xu,J.H.,
Cai,Z.M., Huang,W., Zhao,G.P., Xie,H.F., Fang,H., Lu,Q.J., Xu,J.H.,
Li,X.P., Pan,Y.F., Deng,D.Q., Zeng,F.Q., Ye,Z.Z., Zhang,X.Y.,
Wang,Q.W., Hao,F., Ma,L., Zuo,X.B., Zhou,F.S., Du,W.H., Cheng,Y.L.,
Yang,J.Q., Shen,S.K., Li,J., Sheng,Y.J., Zuo,X.X., Zhu,W.F.,
Gao,F., Zhang,P.L., Guo,Q., Li,B., Gao,M., Xiao,F.L., Quan,C.,
Zhang,C., Zhang,Z., Zhu,K.J., Li,Y., Hu,D.Y., Lu,W.S., Huang,J.L.,
Liu,S.X., Li,H., Ren,Y.Q., Wang,Z.X., Yang,C.J., Wang,P.G.,
Zhou,W.M., Lv,Y.M., Zhang,A.P., Zhang,S.Q., Lin,D., Li,Y.,
Low,H.Q., Shen,M., Zhai,Z.F., Wang,Y., Zhang,F.Y., Yang,S.,
Liu,J.J. and Zhang,X.J.
TITLE Genome-wide association study in a Chinese Han population
identifies nine new susceptibility loci for systemic lupus
erythematosus
JOURNAL Nat. Genet. 41 (11), 1234-1237 (2009)
PUBMED 19838193
REFERENCE 4 (bases 1 to 6812)
AUTHORS Vaquerizas JM, Kummerfeld SK, Teichmann SA and Luscombe NM.
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 5 (bases 1 to 6812)
AUTHORS Collins JE, Wright CL, Edwards CA, Davis MP, Grinham JA, Cole CG,
Goward ME, Aguado B, Mallya M, Mokrab Y, Huckle EJ, Beare DM and
Dunham I.
TITLE A genome annotation-driven approach to cloning the human ORFeome
JOURNAL Genome Biol. 5 (10), R84 (2004)
PUBMED 15461802
REFERENCE 6 (bases 1 to 6812)
AUTHORS Deltour S, Pinte S, Guerardel C, Wasylyk B and Leprince D.
TITLE The human candidate tumor suppressor gene HIC1 recruits CtBP
through a degenerate GLDLSKK motif
JOURNAL Mol. Cell. Biol. 22 (13), 4890-4901 (2002)
PUBMED 12052894
REFERENCE 7 (bases 1 to 6812)
AUTHORS Deltour S, Pinte S, Guerardel C and Leprince D.
TITLE Characterization of HRG22, a human homologue of the putative tumor
suppressor gene HIC1
JOURNAL Biochem. Biophys. Res. Commun. 287 (2), 427-434 (2001)
PUBMED 11554746
REMARK GeneRIF: HIC1 and HRG22 define a subgroup of BTB/POZ domains unable
to recruit repressing complexes containing a histone deacetylase
activity.
REFERENCE 8 (bases 1 to 6812)
AUTHORS Dunham I, Shimizu N, Roe BA, Chissoe S, Hunt AR, Collins JE,
Bruskiewich R, Beare DM, Clamp M, Smink LJ, Ainscough R, Almeida
JP, Babbage A, Bagguley C, Bailey J, Barlow K, Bates KN, Beasley O,
Bird CP, Blakey S, Bridgeman AM, Buck D, Burgess J, Burrill WD,
O'Brien KP et al.
TITLE The DNA sequence of human chromosome 22
JOURNAL Nature 402 (6761), 489-495 (1999)
PUBMED 10591208
REMARK Erratum:[Nature 2000 Apr 20;404(6780):904]
COMMENT VALIDATED REFSEQ: This record has undergone validation or
preliminary review. The reference sequence was derived from
AP000556.2, CN373403.1, AP000557.2, BC094787.1 and BM675330.1.
[WARNING] On Nov 23, 2018 this sequence was replaced by
NM_015094.3.
On Apr 3, 2007 this sequence version replaced NM_015094.1.
Sequence Note: This RefSeq record was created from transcript and
genomic sequence data because no single transcript was available
for the full length of the gene. The extent of this transcript is
supported by transcript alignments.
##Evidence-Data-START##
Transcript exon combination :: AB028943.2 [ECO:0000332]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-5 AP000556.2 67448-67452
6-203 CN373403.1 1-198
204-212 AP000557.2 13024-13032
213-1087 BC094787.1 146-1020
1088-6246 AP000557.2 15972-21130
6247-6812 BM675330.1 1-566 c
FEATURES Location/Qualifiers
source 1..6812
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="22"
/map="22q11.21"
gene 1..6812
/gene="HIC2"
/gene_synonym="HRG22; ZBTB30; ZNF907"
/note="HIC ZBTB transcriptional repressor 2"
/db_xref="GeneID:23119"
/db_xref="HGNC:HGNC:18595"
/db_xref="MIM:607712"
exon 1..157
/gene="HIC2"
/gene_synonym="HRG22; ZBTB30; ZNF907"
/inference="alignment:Splign:2.1.0"
exon 158..256
/gene="HIC2"
/gene_synonym="HRG22; ZBTB30; ZNF907"
/inference="alignment:Splign:2.1.0"
misc_feature 159..161
/gene="HIC2"
/gene_synonym="HRG22; ZBTB30; ZNF907"
/note="upstream in-frame stop codon"
CDS 231..2078
/gene="HIC2"
/gene_synonym="HRG22; ZBTB30; ZNF907"
/note="hic-2; hic-3; HIC1-related gene on chromosome 22
protein; zinc finger and BTB domain-containing protein 30"
/codon_start=1
/product="hypermethylated in cancer 2 protein"
/protein_id="NP_055909.2"
/db_xref="CCDS:CCDS13789.1"
/db_xref="GeneID:23119"
/db_xref="HGNC:HGNC:18595"
/db_xref="MIM:607712"
/translation="MVSGPLALRWCAWAGRGDMGPDMELPSHSKQLLLQLNQQRTKGF
LCDVIIMVENSIFRAHKNVLAASSIYFKSLVLHDNLINLDTDMVSSTVFQQILDFIYT
GKLLPSDQPAEPNFSTLLTAASYLQLPELAALCRRKLKRAGKPFGSGRAGSTGMGRPP
RSQRLSTASVIQARYQGLVDGRKGAHAPQELPQAKGSDDELFLGGSNQDSVQGLGRAV
CPAGGEAGLGGCSSSTNGSSGGCEQELGLDLSKKSPPLPPATPGPHLTPDDAAQLSDS
QHGSPPAASAPPVANSASYSELGGTPDEPMDLEGAEDNHLSLLEAPGGQPRKSLRHST
RKKEWGKKEPVAGSPFERREAGPKGPCPGEEGEGVGDRVPNGILASGAGPSGPYGEPP
YPCKEEEENGKDASEDSAQSGSEGGSGHASAHYMYRQEGYETVSYGDNLYVCIPCAKG
FPSSEQLNAHVETHTEEELFIKEEGAYETGSGGAEEEAEDLSAPSAAYTAEPRPFKCS
VCEKTYKDPATLRQHEKTHWLTRPFPCNICGKMFTQRGTMTRHMRSHLGLKPFACDEC
GMRFTRQYRLTEHMRVHSGEKPYECQLCGGKFTQQRNLISHLRMHTSPS"
misc_feature 726..728
/gene="HIC2"
/gene_synonym="HRG22; ZBTB30; ZNF907"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine. {ECO:0000244|PubMed:23186163};
propagated from UniProtKB/Swiss-Prot (Q96JB3.2); other
site"
misc_feature 735..737
/gene="HIC2"
/gene_synonym="HRG22; ZBTB30; ZNF907"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine. {ECO:0000244|PubMed:23186163};
propagated from UniProtKB/Swiss-Prot (Q96JB3.2); other
site"
misc_feature 819..821
/gene="HIC2"
/gene_synonym="HRG22; ZBTB30; ZNF907"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine. {ECO:0000244|PubMed:23186163};
propagated from UniProtKB/Swiss-Prot (Q96JB3.2); other
site"
misc_feature 966..980
/gene="HIC2"
/gene_synonym="HRG22; ZBTB30; ZNF907"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q96JB3.2);
Region: Binding to CtBP"
misc_feature 1272..1274
/gene="HIC2"
/gene_synonym="HRG22; ZBTB30; ZNF907"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine. {ECO:0000244|PubMed:23186163};
propagated from UniProtKB/Swiss-Prot (Q96JB3.2); other
site"
misc_feature 1464..1466
/gene="HIC2"
/gene_synonym="HRG22; ZBTB30; ZNF907"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine. {ECO:0000244|PubMed:23186163};
propagated from UniProtKB/Swiss-Prot (Q96JB3.2); other
site"
exon 257..6798
/gene="HIC2"
/gene_synonym="HRG22; ZBTB30; ZNF907"
/inference="alignment:Splign:2.1.0"
regulatory 6779..6784
/regulatory_class="polyA_signal_sequence"
/gene="HIC2"
/gene_synonym="HRG22; ZBTB30; ZNF907"
polyA_site 6798
/gene="HIC2"
/gene_synonym="HRG22; ZBTB30; ZNF907"
ORIGIN
1 gtgagcggcg ctcggggcgc gctaggcggg gagccgagcc gggctggcgg caggcggacg
61 gggcgggcgc gtgcggcgcg agccgggcgc tgaggacaag ggccgctggt agggccggcc
121 ggccggcggg cggagcgccg ccgccgacgc acacgaggtg accaggcatt gatgcacccc
181 caggaaggcc acgcgctcag gagccccccc cgccgctggc tgctgctcac atggtgtctg
241 ggcccttggc actccggtgg tgcgcgtggg cagggcgcgg ggacatgggg cccgacatgg
301 agctgcccag ccactcgaag cagctcctgc tgcagctgaa ccagcagagg accaagggct
361 tcctgtgtga cgtcatcatc atggtggaga actccatctt ccgggcccac aagaacgtcc
421 tagccgccag cagcatctat ttcaagtccc tggtcctgca cgacaacctc atcaacctgg
481 acacagacat ggtcagctcc acagtgttcc agcagatctt ggacttcatc tacacaggca
541 agctgctgcc cagcgaccag ccagccgagc ccaacttcag caccctcctc actgccgcca
601 gctacctcca gctgcccgag ttggcagccc tctgccgccg caaactcaag cgagccggca
661 agccctttgg ctctgggagg gcggggtcca ctggcatggg gcggcccccc cgcagccagc
721 ggctgtccac ggcctctgtc atccaagctc ggtatcaggg gctcgtggat gggcgcaagg
781 gggcccacgc cccccaggag ctcccccaag ccaaaggctc agacgatgaa ctctttcttg
841 gtggctctaa ccaggatagc gtgcaaggtc tgggccgggc tgtctgccca gctggcgggg
901 aggcgggtct ggggggctgc agcagcagca ccaacgggag cagcgggggc tgcgagcagg
961 agctgggctt ggacctgtcc aagaaaagcc cacccttgcc ccctgccacc ccaggtcccc
1021 acctcactcc cgatgacgca gcccagctga gcgacagcca acatggctcg ccccctgcgg
1081 cctctgctcc tcccgttgcc aacagtgcct cttattctga gctggggggc acccctgatg
1141 agcccatgga tctggagggg gccgaggaca accacctgag cctgctggag gcgcctggtg
1201 ggcagcctcg gaagagcctc cggcactcca ctcggaagaa ggagtggggc aagaaggagc
1261 ctgtggctgg ctcccccttt gagcggagag aagcagggcc caagggtccc tgcccgggag
1321 aggagggtga gggggtcggg gacagggttc ccaatggcat cctggctagt ggggctggcc
1381 ctagcgggcc ctatggggag cccccctacc cctgcaagga ggaggaggag aacggcaagg
1441 atgcaagtga agacagtgcg cagagcggga gcgagggggg cagcggccat gccagcgccc
1501 actacatgta ccggcaggag ggctacgaga cggtgtccta cggggacaac ttgtatgtgt
1561 gcattccctg cgccaagggc ttccccagct ctgagcagct caatgcgcac gtggagactc
1621 acacggagga agagctgttc atcaaggaag agggggccta cgagacaggc agtgggggtg
1681 ccgaggagga ggccgaggac ctgtcagcac ccagtgcggc ctacacggct gagccccggc
1741 ccttcaagtg ttcggtctgc gagaagacct acaaggaccc agccacgctg cggcagcacg
1801 agaagacgca ctggctgaca cggcccttcc cctgcaacat ctgtggcaaa atgttcacgc
1861 agcgcggcac catgacgcgt cacatgcgga gccacctggg cctgaagccc ttcgcctgcg
1921 atgagtgtgg catgcgcttc acccgtcagt accgcctcac ggagcacatg cgtgtgcact
1981 cgggcgagaa accttacgag tgccagctgt gcgggggcaa gttcacccag cagcgcaacc
2041 tcatcagcca cctgcgcatg cacacctccc cctcctagaa gccaaagacc cgcgggcgcc
2101 ctctgccacc ttgctccccg ggaacccatg gaaggagaag cgaggtgatg cagcagcagg
2161 ggcaagaccc tgggtccagt ggaggctccg ggtggcccct ctggccccca ctgcccacac
2221 ccagagcttt aatggacagt ccgtaccaag cagagccgag aggagggaag ccaggggtcc
2281 cagcccgtct acctccccat cccacccagg cccccagctc cccgcggggg ccaccgcagg
2341 gcctgtgggc tgggtcacgt gggtctcgct gggacctggt ccctttgttg caggcggctt
2401 ggagaaaggg cagtgggacg ctggccacgg ccagggtggt gtcgggagca ggcctcaccc
2461 cgctggccgt gtctgtgtgt gtgcacgtgt gcttgtgtct gtgcgggcgc gtgcagccct
2521 ggttctgcag ggaacaggtg ctgggggtgc agatccctcc ctccttgagc cagggtggca
2581 ctgttcactg gcgctgggac agtcagggtg accccaccgc ctacctctct acatctaaag
2641 agccctctgg gcctgtgttg ctgttattcc tactgatctg ttcctctgtt tttctttttg
2701 atttttgttt tttaaaccaa aacagacaat agcttatttt ctttccgccc cctccggggc
2761 tgagcctggg tctgaagact gaatgtaaca ggggccgctg gcactcctgc gcgtcccccg
2821 gctctggcgc tgcaggggtg tcggcgcgcc acctctccag gccccagaag cccttcttgc
2881 ccaaaggctt ccctggtccc tgagccctgc ctcggctgcc tcaggggaga gtgcttttcc
2941 tgtagtttcc aaggaatatt ctttgtttag aggtacttgt tttttattaa gagaaaaacc
3001 agtgtaacgt ttatgtgact gtttgaactg gaaggtctgg ggttccgggg ggtgggggga
3061 ggctagactc aatgccgggg ccgtcggtac tcttgttttc atttgtgtgt gcgtgcgtgt
3121 gtgtgtgtgt atgtgcgtat gtgtgtgtct atgtgtggtg tgtgccgtat gcatgggcag
3181 atgtttcgct ttccctcctt cctcgctgaa caaggtggag acttctgacc ttttgctacc
3241 tcttgaattc atgacaacga tatgttggtg actggcagtg gaagcccttg acactcttgt
3301 tttccttcgc ttagcaccta ggaagtcgtg tgcaggagcc agcagggcgc caagtggccc
3361 agtgcctgca gctcacctgt gggttttccc tttgagcctt tggccacatc cacctcgagg
3421 ggaccctggc accccgggca cacaaacctc tgtggtatag gtgaggggtg tgaggcccca
3481 gcctggagcc aggcactggg tgctgacagg ggaaccatga ggagggtggc aggtctttgc
3541 agctcccggc cagggtgagg cggaagtgag ccctcatcct gccactccta tcctccattc
3601 ctgcaagagt tttaagcttg agagagctga ccacagggcc ccccggggaa cagggatggc
3661 acttccctga gcagtcctgg cccccggcca ctgtctcggg gcccacctct cgcccctcat
3721 cttggtaatt agccagcctc agatacttct gtgggccctg aagtgggctc tcaaggtcag
3781 accaaggttg ctgatctcag tcccactgtc ttcagccagc tgaagctgtg gggctgggct
3841 ggcagccttt attgtcatct tgcttcacca tttttttttc tctctctttt cattctattt
3901 taagtttaga ccaaaaaaat acagagtcat cccctacccc cacccctcta gagaccctcc
3961 agctaaaaac agagcctgag ttcagggacc caagtggtga gcggcgtctt ttgggggtga
4021 gggagcttgg gtagatgagg ctcctggctg agccctccct gtggtgatcc cagcctaaga
4081 tggcccctct tccctcctgg tgggagacag aggactggac cctgggtctc aggttccagc
4141 aagtcaggct agggacctgg ggggaggaga cccatggact tcacccatac tcagtgaggg
4201 ggctcctgcc gtcctgacgc caccccgccc catcagcact taagccacat gacacaaagt
4261 ctgtaccgca cgggaaatgt tcacgcgcct ggccgtgtgc atggcctccc gggctgtggg
4321 cagccgcatc tgtgaggtga ctcgtgaaag taggtgattc ctttgcagaa cttcagggac
4381 tgggagcaga ggcccctcac tcaacgacgt ttgtgcgaca tagtattgta tccaccttag
4441 tattgtatcg agccttttct gtgttttaat gagaaagcag aacactagtt tcctatttaa
4501 gactttaagg gtttgtgggg cggggcggga ttaacacaac atttggcttt gttttctttt
4561 tcctttgatt tccacatcag gtgtgtgcga gtgtgtgtgt gtggagatgt taagagcctc
4621 acaaggaaac tgggttattg gaggccaagg cggcttacag ttctctgcgt tcgtcactta
4681 attcctgaat gtttcagaga aacaggaatc agaaaatagc agatatcatg taggaaagag
4741 aggataaaca aagaaaaaag aaaaaaaaat aagctcatac ccaaattcac aaagcctatt
4801 ttttaaacca aagcacattt tgaatgagta tggaacctcc atgggctcag aaaaaagatg
4861 ctaatatatt tatctcattg tttacataag cttttacagt ttcagacctc agcagctgta
4921 aggccagtcc agggaaccct cccctgctgc tggaaaccct tctgagttgg ccctggagtg
4981 gctcacgggc agagaagggt agccctgggg ctgggggagg gattggaagc ctccctggag
5041 tcacctgagc cctcgtcccc attcccaggg cccctccaag cccagctggc accaaagagc
5101 ttgggcccgt gctgaccagc ccccaaggcc ctctggccgg accatgctgg tcctgaccag
5161 ctagcctacg cggggatggc cgtcagttct ggccacagga cccgagtctg ggcttgggtc
5221 cccctgctgc tctgcccgtg acccttgggg atgggttgat gcgagggtcc cactcaagcc
5281 aaaaagccgg gacctttgcg cagctctgtc gactctggtg ggtccccact cctggggccc
5341 cctaacccca ccccaggcag cggaaggggc tgactgggtc tggtccttac caacatagac
5401 ggtgcaaaca ctcttaacag tgttgttttt gtatcaatat gtttgtgcag tgatgaatgt
5461 atttatttct cagacttggg gcgagtgagc gggtggcagg ccgggctccg ccactgcatg
5521 ctcccgccgg accgagcccc agcaagggct cctccaggat tgcaaaaaaa aaaggaagag
5581 aaaagatgaa cctttaagca aataagaatc tcagagactc gcagcatagc catacacctc
5641 agcctgtgaa atgaacgatc cggaccctca ccaactttcc ccacctcagg cagccctgtg
5701 tgtttaccgt tcatcaccac tcgggggcac cgggccgccc acccactccc aaaatccgtc
5761 agtattcact ggacctcagg ccctgtgcag gagtgcgatc cgggctgggc cgctgggcag
5821 gctgaccccc tgccctcctg cggccatcct gagttggggt gaggcctggg cagccggagg
5881 gcagggctca gggagcagga ggctgcatcc gtccaccccc aggcgtgggg gacaaaagcc
5941 aaaggtgcca ggccttagag cagacaaggg ctctcagccc tggcatgccc cctaaaggga
6001 ccaaggtcct cctatttccc agaaccccgt tggggcagat gttactgaac ctgtgaatca
6061 gacgccagga gtgagggctg gggagggacc taactggagc ctcagtctga cattccacgc
6121 cggggtgggg gtgggcatga gcggtgggaa ctgaggctgc ccaggacccc cttcctagga
6181 tgccccggct tcagtcaccc cactttaact ttctaccagg accccctccc cctacctcac
6241 cttgctattt attgctgtaa tttattgacc tcaaaaatgc tgcataacag acctcactgg
6301 ggcagggagg atccccaggg ctcccaccct ccacttggcg ggccccgtgg ggccaggtgc
6361 tgaggggagc ctctctaccc cacccatcac tagcttccct ctgccctctc ccaccccggg
6421 ggggacccag gttgggcact ggctcatttc tcgcaaatac ctcgaagggg aggggggagg
6481 gatggggtta tagctgtttt gtttaattgg aactggaaga gggatcatgt tttgttttat
6541 gcccttccca gaagggggga gggacaccgg gatcgcactc ctgtactggc caccgccgct
6601 gtcacttgtc acattgagtt catgtccctt gagagtttgt ataaattcag gtcagagctg
6661 cagctacaca gctgcccagt gtcatagaaa agcaattcac caacgactga tctctccatt
6721 cagaagtgtg cagtcttaaa tgtacagcga taagaaactg ttattttatg atcttttcat
6781 taaaagcttg attgaaaaaa aaaaaaaaaa aa
//