LOCUS       NM_006079               2382 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens Cbp/p300 interacting transactivator with Glu/Asp rich
            carboxy-terminal domain 2 (CITED2), transcript variant 1, mRNA.
ACCESSION   NM_006079
VERSION     NM_006079.5
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 2382)
  AUTHORS   Yaqoob,H., Ahmad,H., Ali,S.I., Patel,N. and Arif,A.
  TITLE     Missense mutations in the CITED2 gene may contribute to congenital
            heart disease
  JOURNAL   BMC Cardiovasc Disord 24 (1), 516 (2024)
   PUBMED   39333893
  REMARK    GeneRIF: Missense mutations in the CITED2 gene may contribute to
            congenital heart disease.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2382)
  AUTHORS   Kuna,M. and Soares,M.J.
  TITLE     Cited2 is a key regulator of placental development and plasticity
  JOURNAL   Bioessays 46 (8), e2300118 (2024)
   PUBMED   38922923
  REMARK    GeneRIF: Cited2 is a key regulator of placental development and
            plasticity.
            Review article
REFERENCE   3  (bases 1 to 2382)
  AUTHORS   Imam,R., Aizezi,M., Yan,F., Zhu,T. and Zhang,W.
  TITLE     Sequence variations in GATA4 and CITED2 gene among patients with
            cardiac septation defects from Xinjiang, China
  JOURNAL   Cardiol Young 34 (7), 1506-1513 (2024)
   PUBMED   38456293
  REMARK    GeneRIF: Sequence variations in GATA4 and CITED2 gene among
            patients with cardiac septation defects from Xinjiang, China.
REFERENCE   4  (bases 1 to 2382)
  AUTHORS   Sperling,S., Grimm,C.H., Dunkel,I., Mebus,S., Sperling,H.P.,
            Ebner,A., Galli,R., Lehrach,H., Fusch,C., Berger,F. and Hammer,S.
  TITLE     Identification and functional analysis of CITED2 mutations in
            patients with congenital heart defects
  JOURNAL   Hum Mutat 26 (6), 575-582 (2005)
   PUBMED   16287139
  REMARK    GeneRIF: CITED2 mutations have a causative impact in the
            development of CHD in humans.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (bases 1 to 2382)
  AUTHORS   Glenn,D.J. and Maurer,R.A.
  TITLE     MRG1 binds to the LIM domain of Lhx2 and may function as a
            coactivator to stimulate glycoprotein hormone alpha-subunit gene
            expression
  JOURNAL   J Biol Chem 274 (51), 36159-36167 (1999)
   PUBMED   10593900
REFERENCE   6  (bases 1 to 2382)
  AUTHORS   Leung,M.K., Jones,T., Michels,C.L., Livingston,D.M. and
            Bhattacharya,S.
  TITLE     Molecular cloning and chromosomal localization of the human CITED2
            gene encoding p35srj/Mrg1
  JOURNAL   Genomics 61 (3), 307-313 (1999)
   PUBMED   10552932
REFERENCE   7  (bases 1 to 2382)
  AUTHORS   Bhattacharya,S., Michels,C.L., Leung,M.K., Arany,Z.P., Kung,A.L.
            and Livingston,D.M.
  TITLE     Functional role of p35srj, a novel p300/CBP binding protein, during
            transactivation by HIF-1
  JOURNAL   Genes Dev 13 (1), 64-75 (1999)
   PUBMED   9887100
REFERENCE   8  (bases 1 to 2382)
  AUTHORS   Sun,H.B., Zhu,Y.X., Yin,T., Sledge,G. and Yang,Y.C.
  TITLE     MRG1, the product of a melanocyte-specific gene related gene, is a
            cytokine-inducible transcription factor with transformation
            activity
  JOURNAL   Proc Natl Acad Sci U S A 95 (23), 13555-13560 (1998)
   PUBMED   9811838
REFERENCE   9  (bases 1 to 2382)
  AUTHORS   Shioda,T., Fenner,M.H. and Isselbacher,K.J.
  TITLE     MSG1 and its related protein MRG1 share a transcription activating
            domain
  JOURNAL   Gene 204 (1-2), 235-241 (1997)
   PUBMED   9434189
REFERENCE   10 (bases 1 to 2382)
  AUTHORS   Shioda,T., Fenner,M.H. and Isselbacher,K.J.
  TITLE     msg1, a novel melanocyte-specific gene, encodes a nuclear protein
            and is associated with pigmentation
  JOURNAL   Proc Natl Acad Sci U S A 93 (22), 12298-12303 (1996)
   PUBMED   8901575
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BM851650.1, AF109161.1,
            AI087283.1, AA767624.1 and AL592429.6.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_006079.4.
            
            Summary: The protein encoded by this gene inhibits transactivation
            of HIF1A-induced genes by competing with binding of
            hypoxia-inducible factor 1-alpha to p300-CH1. Mutations in this
            gene are a cause of cardiac septal defects. Alternatively spliced
            transcript variants encoding multiple isoforms have been observed
            for this gene. [provided by RefSeq, May 2012].
            
            Transcript Variant: This variant (1) represents the longest
            transcript. Variants 1 and 2 encode the same isoform (1).
            
            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 :: BM850137.1, AF109161.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000367651.4/ ENSP00000356623.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-28                BM851650.1         3-30
            29-1491             AF109161.1         1-1463
            1492-1933           AI087283.1         7-448               c
            1934-1934           AA767624.1         3-3                 c
            1935-2382           AL592429.6         34768-35215         c
FEATURES             Location/Qualifiers
     source          1..2382
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q24.1"
     gene            1..2382
                     /gene="CITED2"
                     /gene_synonym="ASD8; MRG-1; MRG1; P35SRJ; VSD2"
                     /note="Cbp/p300 interacting transactivator with Glu/Asp
                     rich carboxy-terminal domain 2"
                     /db_xref="GeneID:10370"
                     /db_xref="HGNC:HGNC:1987"
                     /db_xref="MIM:602937"
     exon            1..236
                     /gene="CITED2"
                     /gene_synonym="ASD8; MRG-1; MRG1; P35SRJ; VSD2"
                     /inference="alignment:Splign:2.1.0"
     exon            237..2382
                     /gene="CITED2"
                     /gene_synonym="ASD8; MRG-1; MRG1; P35SRJ; VSD2"
                     /inference="alignment:Splign:2.1.0"
     CDS             245..1057
                     /gene="CITED2"
                     /gene_synonym="ASD8; MRG-1; MRG1; P35SRJ; VSD2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     melanocyte-specific gene 1-related gene 1; MSG1-related
                     gene 1; MSG-related protein 1"
                     /codon_start=1
                     /product="cbp/p300-interacting transactivator 2 isoform 1"
                     /protein_id="NP_006070.2"
                     /db_xref="CCDS:CCDS5195.1"
                     /db_xref="GeneID:10370"
                     /db_xref="HGNC:HGNC:1987"
                     /db_xref="MIM:602937"
                     /translation="MADHMMAMNHGRFPDGTNGLHHHPAHRMGMGQFPSPHHHQQQQP
                     QHAFNALMGEHIHYGAGNMNATSGIRHAMGPGTVNGGHPPSALAPAARFNNSQFMGPP
                     VASQGGSLPASMQLQKLNNQYFNHHPYPHNHYMPDLHPAAGHQMNGTNQHFRDCNPKH
                     SGGSSTPGGSGGSSTPGGSGSSSGGGAGSSNSGGGSGSGNMPASVAHVPAAMLPPNVI
                     DTDFIDEEVLMSLVIEMGLDRIKELPELWLGQNEFDFMTDFVCKQQPSRVSC"
     regulatory      1914..1919
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CITED2"
                     /gene_synonym="ASD8; MRG-1; MRG1; P35SRJ; VSD2"
                     /note="hexamer: AATAAA"
     polyA_site      1933
                     /gene="CITED2"
                     /gene_synonym="ASD8; MRG-1; MRG1; P35SRJ; VSD2"
                     /note="major polyA site"
     regulatory      2361..2366
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CITED2"
                     /gene_synonym="ASD8; MRG-1; MRG1; P35SRJ; VSD2"
                     /note="hexamer: ATTAAA"
     polyA_site      2382
                     /gene="CITED2"
                     /gene_synonym="ASD8; MRG-1; MRG1; P35SRJ; VSD2"
ORIGIN      
        1 acagctcatt gttggcagct gccgggcggt cctgccgagc tgtgagggca acggagggga
       61 aataaaaggg aacggctccg aatctgcccc agcggccgct gcgagacctc ggcgccgaca
      121 tcgcgacagc gaagcgcttt gcacgccagg aaggtcccct ctatgtgctg ctgagccggt
      181 cctggacgcg acgagcccgc cctcggtctt cggagcagaa atcgcaaaaa cggaaggact
      241 ggaaatggca gaccatatga tggccatgaa ccacgggcgc ttccccgacg gcaccaatgg
      301 gctgcaccat caccctgccc accgcatggg catggggcag ttcccgagcc cccatcacca
      361 ccagcagcag cagccccagc acgccttcaa cgccctaatg ggcgagcaca tacactacgg
      421 cgcgggcaac atgaatgcca cgagcggcat caggcatgcg atggggccgg ggactgtgaa
      481 cggagggcac cccccgagcg cgctggcccc cgcggccagg tttaacaact cccagttcat
      541 gggtcccccg gtggccagcc agggaggctc cctgccggcc agcatgcagc tgcagaagct
      601 caacaaccag tatttcaacc atcaccccta cccccacaac cactacatgc cggatttgca
      661 ccctgctgca ggccaccaga tgaacgggac aaaccagcac ttccgagatt gcaaccccaa
      721 gcacagcggc ggcagcagca cccccggcgg ctcgggcggc agcagcaccc ccggcggctc
      781 tggcagcagc tcgggcggcg gcgcgggcag cagcaacagc ggcggcggca gcggcagcgg
      841 caacatgccc gcctccgtgg cccacgtccc cgctgcaatg ctgccgccca atgtcataga
      901 cactgatttc atcgacgagg aagttcttat gtccttggtg atagaaatgg gtttggaccg
      961 catcaaggag ctgcccgaac tctggctggg gcaaaacgag tttgatttta tgacggactt
     1021 cgtgtgcaaa cagcagccca gcagagtgag ctgttgactc gatcgaaacc ccggcgaaag
     1081 aaatcaaacc cccaacttct tcggcgtgaa ttaaaagaaa cattccctta gacacagtat
     1141 ctcacttttc agatcttgaa aggtttgaga acttggaaac aaagtaaact ataaacttgt
     1201 acaaattggt tttaaaaaaa attgctgcca cttttttttc ctgtttttgt ttcgtttttg
     1261 tagccttgac attcacccac ctcccttatg tagttgaaat atctagctaa cttggtcttt
     1321 ttcgttgttt gtttttactc ctttccctca ctttctccag tgctcaactg ttagatatta
     1381 atcttggcaa actgcttaat cttgtggatt ttgtagatgg tttcaaatga ctgaactgca
     1441 ttcagattta cgagtgaaag gaaaaattgc attagttggt tgcatgaact tcgaagggca
     1501 gatattactg cacaaactgc catctcgctt cattttttta actatgcatt tgagtacaga
     1561 ctaattttta aaatatgcta aactggaaga ttaaacagat gtgggccaaa ctgttctgga
     1621 tcaggaaagt catactgttc actttcaagt tggctgtccc ccccgccgcc ccccccaccc
     1681 ccatatgtac agatgataat agggtgtgga atgtcgtcag tggcaaacat ttcacagatt
     1741 tttattttgt ttctgtcttc aacatttttg acactgtgct aatagttata ttcagtacat
     1801 gaaaagatac tactgtgttg aaagcttttt aggaaatttt gacagtattt ttgtacaaaa
     1861 catttttttg aaaaaatact tgttaattta ttctatttta atttgccaat gtcaataaaa
     1921 agttaagaaa taacttgttt tctagaagtc atttgggggt ggttgttccc tttggtggct
     1981 tttttccccc cgtctttgag ttgaacacta ttgatgagag taagcattcc aaaggataaa
     2041 ttacaggaca ctaaaacagg tcatgatgag cttaagcgga gagcaggatt taacataatt
     2101 ggcataatgc ttcattgtta tcattgtaac atgcctcttg gtgtgcttta atcaaaagct
     2161 gcaaagttgt cactgctttt ttttttttct taattgccat catatcaagt gtactccaga
     2221 gttagaaagg tttgcaatac tcaacattat ctttttcaat gggcaggagg caaaaaaaat
     2281 caagtgtttc tgtttatacc tgattcaact acttaaatag aggtagattg gaataataca
     2341 ctgattgatt gatgggtggc attaaatata aatctacctt ta
//
