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CITED2 Gene

protein-coding   GIFtS: 60
GCID: GC06M139735

Cbp/P300-Interacting Transactivator, With Glu/Asp-Rich Carboxy-Terminal...

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Cbp/P300-Interacting Transactivator, With Glu/Asp-Rich Carboxy-Terminal
Domain, 21 2
     VSD22 5
MRG12 3 5     Cbp/P300-Interacting Transactivator 22
MRG-12 3     Melanocyte-Specific Gene 1-Related Gene 12
MSG-Related Protein 12 3     MSG1-Related Gene 12
ASD82 5     P35srj3
P35SRJ2 5     

External Ids:    HGNC: 19871   Entrez Gene: 103702   Ensembl: ENSG000001644427   OMIM: 6029375   UniProtKB: Q999673   

Export aliases for CITED2 gene to outside databases

Previous GC identifers: GC06M139316 GC06M139540 GC06M139673 GC06M137254


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CITED2 Gene:
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)

GeneCards Summary for CITED2 Gene:
CITED2 (Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2) is a protein-coding gene. Diseases associated with CITED2 include atrial septal defect 8, and ventricular septal defect 2. GO annotations related to this gene include transcription coactivator activity and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is CITED1.

UniProtKB/Swiss-Prot: CITE2_HUMAN, Q99967
Function: Transcriptional coactivator of the p300/CBP-mediated trancription complex. Acts as a bridge, linking
TFAP2 transcription factors and the p300/CBP transcriptional coactivator complex in order to stimulate
TFAP2-mediated transcriptional activation. Positively regulates TGF-beta signaling through its association with
the SMAD/p300/CBP-mediated transcriptional coactivator complex. Stimulates the peroxisome proliferator-activated
receptors PPARA transcriptional activity. Enhances estrogen-dependent transactivation mediated by estrogen
receptors. Acts also as a transcriptional corepressor; interferes with the binding of the transcription factors
HIF1A or STAT2 and the p300/CBP transcriptional coactivator complex. Participates in sex determination and early
gonad development by stimulating transcription activation of SRY. Plays a role in controlling left-right
patterning during embryogenesis; potentiates transcriptional activation of NODAL-mediated gene transcription in
the left lateral plate mesoderm (LPM). Plays an essential role in differentiation of the adrenal cortex from the
adrenogonadal primordium (AGP); stimulates WT1-mediated transcription activation thereby up-regulating the
nuclear hormone receptor NR5A1 promoter activity. Associates with chromatin to the PITX2 P1 promoter region

Gene Wiki entry for CITED2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000006.12  NC_018917.2  NT_025741.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the CITED2 gene promoter:
         AML1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCITED2 promoter sequence
   Search Chromatin IP Primers for CITED2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CITED2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6q23.3   Ensembl cytogenetic band:  6q24.1   HGNC cytogenetic band: 6q23.3

CITED2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CITED2 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M139735:  view genomic region     (about GC identifiers)

Start:
139,693,393 bp from pter      End:
139,695,785 bp from pter
Size:
2,393 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CITE2_HUMAN, Q99967 (See protein sequence)
Recommended Name: Cbp/p300-interacting transactivator 2  
Size: 270 amino acids; 28497 Da
Subunit: Interacts (via C-terminus) with SMAD2. Interacts (via C-terminus) with SMAD3 (via MH2 domain). Interacts
with LHX2 (via LIM domains). Interacts with WT1 (By similarity). Interacts (via C-terminus) with EP300 (via CH1
domain); the interaction is stimulated in response to hypoxia. Interacts with PPARA. Interacts (via C-terminus)
with TFAP2A, TFAP2B and TFAP2C
2 PDB 3D structures from and Proteopedia for CITED2:
1P4Q (3D)        1R8U (3D)    
Secondary accessions: O95426 Q5VTF4
Alternative splicing: 2 isoforms:  Q99967-1   Q99967-2   

Explore the universe of human proteins at neXtProt for CITED2: NX_Q99967

Explore proteomics data for CITED2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CITED2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001161860.1  NP_001161861.2  NP_006070.2  

    ENSEMBL proteins: 
     ENSP00000356623   ENSP00000442831   ENSP00000444198  

    CITED2 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for CITED2
    OriGene Custom MassSpec
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    Novus Biologicals CITED2 Proteins
    Novus Biologicals CITED2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for CITED2
    Cloud-Clone Corp. Proteins for CITED2

    CITED2 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    R&D Systems Antibodies for CITED2 (Cited-2)
    OriGene Antibodies for CITED2
    OriGene Custom Antibody Services for CITED2
    Novus Biologicals CITED2 Antibodies
    Abcam antibodies for CITED2
    Cloud-Clone Corp. Antibodies for CITED2
    ThermoFisher Antibodies for CITED2
    LSBio Antibodies in human, mouse, rat for CITED2

    CITED2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for CITED2
    R&D Systems Proteome Profiler Antibody Arrays for CITED2 (Cited-2)
    GenScript Custom Assay Services for CITED2
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for CITED2
    Cloud-Clone Corp. CLIAs for CITED2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR007576 CITED

    Graphical View of Domain Structure for InterPro Entry Q99967

    ProtoNet protein and cluster: Q99967

    1 Blocks protein domain: IPB007576 CITED

    UniProtKB/Swiss-Prot: CITE2_HUMAN, Q99967
    Similarity: Belongs to the CITED family


    CITED2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CITE2_HUMAN, Q99967
    Function: Transcriptional coactivator of the p300/CBP-mediated trancription complex. Acts as a bridge, linking
    TFAP2 transcription factors and the p300/CBP transcriptional coactivator complex in order to stimulate
    TFAP2-mediated transcriptional activation. Positively regulates TGF-beta signaling through its association with
    the SMAD/p300/CBP-mediated transcriptional coactivator complex. Stimulates the peroxisome proliferator-activated
    receptors PPARA transcriptional activity. Enhances estrogen-dependent transactivation mediated by estrogen
    receptors. Acts also as a transcriptional corepressor; interferes with the binding of the transcription factors
    HIF1A or STAT2 and the p300/CBP transcriptional coactivator complex. Participates in sex determination and early
    gonad development by stimulating transcription activation of SRY. Plays a role in controlling left-right
    patterning during embryogenesis; potentiates transcriptional activation of NODAL-mediated gene transcription in
    the left lateral plate mesoderm (LPM). Plays an essential role in differentiation of the adrenal cortex from the
    adrenogonadal primordium (AGP); stimulates WT1-mediated transcription activation thereby up-regulating the
    nuclear hormone receptor NR5A1 promoter activity. Associates with chromatin to the PITX2 P1 promoter region
    Induction: By hypoxia and deferoxamine

         Genatlas biochemistry entry for CITED2:
    CBP/p300 interactive transactivator with ED rich tail 2,with two isoforms p35srj,ubiquitously expressed,involved
    in the recruitement of p300/CBP by hypoxia-inducible factor HIF1A and mrg1 (MSG1-related gene),cytokine-inducible
    transcription factor with transformation activity

         Gene Ontology (GO): Selected molecular function terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001102RNA polymerase II activating transcription factor binding IEA--
    GO:0001105RNA polymerase II transcription coactivator activity IEA--
    GO:0001106RNA polymerase II transcription corepressor activity IDA--
    GO:0003682chromatin binding ISS--
    GO:0003700sequence-specific DNA binding transcription factor activity ISS--
         
    CITED2 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for CITED2:
     Increased TP53 protein express  Increased cell number in G2M,  

         Selected MGI mutant phenotypes (inferred from 11 alleles(MGI details for Cited2) (see all 18):
     cardiovascular system  cellular  craniofacial  digestive/alimentary  embryogenesis 
     endocrine/exocrine gland  growth/size/body  hematopoietic system  homeostasis/metabolism  immune system 
     limbs/digits/tail  mortality/aging  nervous system  normal  renal/urinary system 

    CITED2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for CITED2: Cited2tm1.2Dunw Cited2tm1Bha Cited2tm1Ycy

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CITED2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CITED2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CITED2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CITED2

    miRNA
    Products:
        
    miRTarBase miRNAs that target CITED2:
    hsa-mir-103a-3p (MIRT027052), hsa-mir-335-5p (MIRT017586), hsa-mir-590-3p (MIRT016167)

    Block miRNA regulation of human, mouse, rat CITED2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CITED2 (see all 47):
    hsa-miR-2052 hsa-miR-3685 hsa-miR-4307 hsa-miR-328 hsa-miR-19b-2* hsa-miR-429 hsa-miR-199a-3p hsa-miR-128
    SwitchGear 3'UTR luciferase reporter plasmidCITED2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for CITED2
    Predesigned siRNA for gene silencing in human, mouse, rat CITED2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for CITED2

    Clone
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    OriGene clones in human, mouse for CITED2 (see all 16)
    OriGene ORF clones in mouse, rat for CITED2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): CITED2 (NM_006079)
    Sino Biological Human cDNA Clone for CITED2
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CITED2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CITED2

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for CITED2
    Browse ESI BIO Cell Lines and PureStem Progenitors for CITED2 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CITED2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CITE2_HUMAN, Q99967: Nucleus. Note=Colocalizes with EP300 in dot-like structures
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000790nuclear chromatin ISS--
    GO:0005634nucleus IMP12586840
    GO:0005737cytoplasm IMP12586840

    CITED2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CITED2 About    
    See pathways by source

    SuperPathContained pathways About
    1HIF-2-alpha transcription factor network
    HIF-2-alpha transcription factor network
    2HIF-1-alpha transcription factor network
    HIF-1-alpha transcription factor network


    2 BioSystems Pathways for CITED2
        HIF-2-alpha transcription factor network
    HIF-1-alpha transcription factor network



        Pathway & Disease-focused RT2 Profiler PCR Arrays including CITED2: 
              Estrogen Receptor Signaling in human mouse rat
              Cellular Senescence in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CITED2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CITED2 (Q999671, 2, 3 ENSP000003566234) via UniProtKB, MINT, STRING, and/or I2D (see all 27)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TFAP2CQ927541, 3, ENSP000002010314EBI-937732,EBI-937309 I2D: score=3 STRING: ENSP00000201031
    HNF4AP412351, 2, 3, ENSP000003129874EBI-937732,EBI-1049011 MINT-6175330 MINT-6175313 MINT-6175350 I2D: score=1 STRING: ENSP00000312987
    EP300Q094721, 3, ENSP000002632534EBI-937732,EBI-447295 I2D: score=4 STRING: ENSP00000263253
    CREBBPQ927933, ENSP000002623674I2D: score=3 STRING: ENSP00000262367
    LHX2P504583, ENSP000003627174I2D: score=2 STRING: ENSP00000362717
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 68):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IMP17906695
    GO:0001568blood vessel development ----
    GO:0001570vasculogenesis IEA--
    GO:0001666response to hypoxia IMP17906695
    GO:0001701in utero embryonic development ----

    CITED2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CITED2 (CITE2)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for CITED2 gene (3 alternative transcripts): 
    NM_001168388.2  NM_001168389.2  NM_006079.4  

    Unigene Cluster for CITED2:

    Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
    Hs.82071  [show with all ESTs]
    Unigene Representative Sequence: NM_006079
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000367651(uc003qip.1) ENST00000536159(uc021zga.1) ENST00000537332(uc021zfz.1)

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat CITED2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CITED2 (see all 47):
    hsa-miR-2052 hsa-miR-3685 hsa-miR-4307 hsa-miR-328 hsa-miR-19b-2* hsa-miR-429 hsa-miR-199a-3p hsa-miR-128
    SwitchGear 3'UTR luciferase reporter plasmidCITED2 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for CITED2
    Predesigned siRNA for gene silencing in human, mouse, rat CITED2
    Clone
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    OriGene ORF clones in mouse, rat for CITED2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): CITED2 (NM_006079)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CITED2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CITED2
    Primer
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    OriGene qPCR primer pairs and template standards for CITED2
    OriGene qSTAR qPCR primer pairs in human, mouse for CITED2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CITED2
      QuantiTect SYBR Green Assays in human, mouse, rat CITED2
      QuantiFast Probe-based Assays in human, mouse, rat CITED2

    Additional mRNA sequence: 

    AF109161.1 BC004377.1 

    10 DOTS entries:

    DT.100786030  DT.455825  DT.101985130  DT.121340357  DT.87078972  DT.95198938  DT.95204853  DT.99948784 
    DT.121340365  DT.95198909 

    Selected AceView cDNA sequences (see all 275):

    BQ447415 BM980417 BM848207 CA312098 AA878241 CA398044 AA883243 CA503341 
    N35947 AA708518 CF131652 CF126274 AI751038 Z40920 CD368830 BM091022 
    BQ225023 AI467793 CA436311 AA400897 BM850137 Z46096 CB164035 N56632 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CITED2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAAAGATACT
    CITED2 Expression
    About this image


    CITED2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 21) fully expand
     
     Brain (Nervous System)    fully expand to see all 7 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Hypoblast (Extraembryonic Tissues)    fully expand to see all 2 entries
             Anterior Visceral Endoderm Cells Extraembryonic Visceral Endoderm
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Yolk Sac (Extraembryonic Tissues)    fully expand to see all 2 entries
             Anterior Visceral Endoderm Cells Extraembryonic Visceral Endoderm
    CITED2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CITED2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.82071
        Pathway & Disease-focused RT2 Profiler PCR Arrays including CITED2: 
              Estrogen Receptor Signaling in human mouse rat
              Cellular Senescence in human mouse rat

    Primer
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    OriGene qPCR primer pairs and template standards for CITED2
    OriGene qSTAR qPCR primer pairs in human, mouse for CITED2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CITED2
    QuantiTect SYBR Green Assays in human, mouse, rat CITED2
    QuantiFast Probe-based Assays in human, mouse, rat CITED2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CITED2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for CITED2 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cited21 , 5 Cbp/p300-interacting transactivator, with Glu/Asp-rich more1, 5 91.82(n)1
    90.33(a)1
      10 (7.18 cM)5
    176841  NM_010828.31  NP_034958.21 
     177232285 
    chicken
    (Gallus gallus)
    Aves CITED21 Cbp/p300-interacting transactivator, with Glu/Asp-rich more 80.28(n)
    80.43(a)
      395399  NM_206844.1  NP_996726.1 
    lizard
    (Anolis carolinensis)
    Reptilia CITED26
    Cbp/p300-interacting transactivator, with Glu/Asp-...
    83(a)
    1 ↔ 1
    GL343200.1(801840-809704)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.255982 Xenopus laevis transcribed sequence with moderate similarity more 77.24(n)    CA980852.1 
    zebrafish
    (Danio rerio)
    Actinopterygii idibd50082 idibd5008 76.3(n)   338302  AF359242.1 


    ENSEMBL Gene Tree for CITED2 (if available)
    TreeFam Gene Tree for CITED2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CITED2 gene
    CITED12  CITED42  

    CITED2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for CITED2 (see all 155)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1405322941,2
    --139693196(+) AGGTAA/GATTTA 3 -- ds50010--------
    rs1898858461,2
    --139693242(+) TTCCAA/GTCTAC 3 -- ds50010--------
    rs754671061,2
    C,F--139693329(+) TGTTGA/CGTATT 3 -- ds50012Minor allele frequency- C:0.03NS NA 682
    rs1503323651,2
    --139693359(+) GAGTAC/TACTTG 3 -- ds50010--------
    rs770111501,2
    F--139693407(+) AACTTT/GGCAGC 3 -- ds50011Minor allele frequency- G:0.01WA 118
    rs1464532341,2
    --139693454(+) ATAACA/GATGAA 3 -- ds50010--------
    rs1408439801,2
    --139693481(+) GTTAAA/GTCCTG 3 -- ds50010--------
    rs2000944101,2
    C--139693492(+) CTCTCC/TGCTTA 3 -- ds50010--------
    rs1825240501,2
    --139693493(+) TCTCCA/GCTTAA 3 -- ds50010--------
    rs1446098841,2
    C--139693510(+) CATGAC/TCTGTT 3 -- ds50010--------

    HapMap Linkage Disequilibrium report for CITED2 (139693393 - 139695785 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for CITED2: --
    Human Gene Mutation Database (HGMD): CITED2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CITED2
    DNA2.0 Custom Variant and Variant Library Synthesis for CITED2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602937   
    OMIM disorders: 614431  614433  
    UniProtKB/Swiss-Prot: CITE2_HUMAN, Q99967
  • Ventricular septal defect 2 (VSD2) [MIM:614431]: A common form of congenital cardiovascular anomaly that
    may occur alone or in combination with other cardiac malformations. It can affect any portion of the ventricular
    septum, resulting in abnormal communications between the two lower chambers of the heart. Classification is based
    on location of the communication, such as perimembranous, inlet, outlet (infundibular), central muscular,
    marginal muscular, or apical muscular defect. Large defects that go unrepaired may give rise to cardiac
    enlargement, congestive heart failure, pulmonary hypertension, Eisenmenger's syndrome, delayed fetal brain
    development, arrhythmias, and even sudden cardiac death. Note=The disease is caused by mutations affecting the
    gene represented in this entry
  • Atrial septal defect 8 (ASD8) [MIM:614433]: A congenital heart malformation characterized by incomplete
    closure of the wall between the atria resulting in blood flow from the left to the right atria. Note=The disease
    is caused by mutations affecting the gene represented in this entry

  • Selected diseases for CITED2 (see all 33):    
    About MalaCards
    atrial septal defect 8    ventricular septal defect 2    single ventricular septal defect    atrial septal defect sinus venosus
    heterotaxy, visceral, 5    dextrocardia with situs inversus    exencephaly    ventricular septal defect
    dextrocardia    congenital heart defect    tetralogy of fallot    heterotaxy
    hypoxia    spina bifida    congestive heart failure    premature ovarian failure
    labyrinthitis    ulcerative colitis    sinusitis    t-cell leukemia

    2 diseases from the University of Copenhagen DISEASES database for CITED2:
    Tetralogy of Fallot     Spina bifida

    CITED2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): CITED2
    Human Genome Epidemiology (HuGE) Navigator: CITED2 (6 documents)

    Export disorders for CITED2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CITED2 gene, integrated from 10 sources (see all 61):
    (articles sorted by number of sources associating them with CITED2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and chromosomal localization of the human CITED2 gene encoding p35srj/Mrg1. (PubMed id 10552932)1, 2, 3, 9 Leung M.K.... Bhattacharya S. (Genomics 1999)
    2. Identification and functional analysis of CITED2 mutations in patients with congenital heart defects. (PubMed id 16287139)1, 2, 4 Sperling S.... Hammer S. (Hum. Mutat. 2005)
    3. msg1, a novel melanocyte-specific gene, encodes a nuclear protein and is associated with pigmentation. (PubMed id 8901575)1, 2, 3 Shioda T.... Isselbacher K.J. (Proc. Natl. Acad. Sci. U.S.A. 1996)
    4. Functional role of p35srj, a novel p300/CBP binding protein, during transactivation by HIF-1. (PubMed id 9887100)1, 2, 9 Bhattacharya S....Livingston D.M. (Genes Dev. 1999)
    5. Biological, clinical and population relevance of 95 loci for blood lipids. (PubMed id 20686565)1, 4 Teslovich T.M....Kathiresan S. (Nature 2010)
    6. Genes encoding critical transcriptional activators for murine neural tube development and human spina bifida: a case-control study. (PubMed id 20932315)1, 4 Lu W....Zhu H. (BMC Med. Genet. 2010)
    7. [Mutation analysis of Cited2 in patients with congenital heart disease]. (PubMed id 20654020)1, 4 Yang X.F....Tian J. (Zhonghua Er Ke Za Zhi 2010)
    8. Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. (PubMed id 19862010)1, 4 Ganesh S.K....Lin J.P. (Nat. Genet. 2009)
    9. Identification of the CREB-binding protein/p300-interacting protein CITED2 as a peroxisome proliferator-activated receptor alpha coregulator. (PubMed id 15051727)1, 2 Tien E.S.... Vanden Heuvel J.P. (J. Biol. Chem. 2004)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 10370 HGNC: 1987 AceView: CITED2 Ensembl:ENSG00000164442 euGenes: HUgn10370
    ECgene: CITED2 H-InvDB: CITED2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CITED2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CITED2 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CITED2 gene:
    Search GeneIP for patents involving CITED2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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