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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

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)
About This Section

Aliases
Cbp/P300-Interacting Transactivator, With Glu/Asp-Rich Carboxy-Terminal
Domain, 21 2
     VSD22
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
P35SRJ2 5     P35srj3
ASD82     

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 single ventricular septal defect, and atrial septal defect sinus venosus. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.2  NT_025741.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CITED2 gene promoter:
         AML1a   
         Other transcription factors

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

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Nucleus. Note=Colocalizes with EP300 in dot-like structures
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q99967

  • CITED2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CITED2 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001161860.1  NP_001161861.2  NP_006070.2  

    ENSEMBL proteins: 
     ENSP00000356623   ENSP00000442831   ENSP00000444198  

    Human Recombinant Protein Products for CITED2: 
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    OriGene Protein Over-expression Lysate for CITED2
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    OriGene Custom Protein Services for CITED2
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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 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

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

    CITED2 for ontologies           About GeneDecksing



    CITED2 Antibody Products: 
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    Assay Products for CITED2: 
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    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)
    About This Section
    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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/11 molecular function terms (GO ID links to tree view) (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,  

         15/18 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  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 - Custom generated mouse model solutions for CITED2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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
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    8/47 QIAGEN miScript miRNA 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:
        
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CITED2


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CITED2 About                                                                                                See pathways by source

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


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


    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CITED2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 22)

    5/23 Interacting proteins for CITED2 (Q999671, 2, 3 ENSP000003566234) via UniProtKB, MINT, STRING, and/or I2D (see all 23)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TFAP2CQ927541, 3, ENSP000002010314EBI-937732,EBI-937309 I2D: score=3 STRING: ENSP00000201031
    HNF4AP412352, 3, ENSP000003129874MINT-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): 5/67 biological process terms (GO ID links to tree view) (see all 67):    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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CITED2 (CITE2)

    Search CenterWatch for drugs/clinical trials and news about 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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
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    8/47 QIAGEN miScript miRNA 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
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      QIAGEN 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 

    24/275 AceView cDNA sequences (see all 275):

    BU633958 CA414329 CA398043 CN480162 BQ020739 AI168070 NM_006079 BM847515 
    BG825244 BQ001395 BE045782 AA708775 N56632 CF529630 AI186690 AW008588 
    AW024299 N72956 T30464 AI081427 AI753496 AA290661 CD366099 AA115076 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CITED2 expression in normal human tissues (normalized intensities)      CITED2 embryonic expression: see
    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 
     5/48 selected tissues (see all 48) fully expand
     
     Brain (Nervous System)    fully expand to see all 10 entries
             Cerebral Cortex
             brain/midbrain   
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; peripheral nerve/ganglion   

    See CITED2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CITED2

    SOURCE GeneReport for Unigene cluster: Hs.82071
        SABiosciences Expression via Pathway-Focused PCR Arrays including CITED2: 
              Estrogen Receptor Signaling in human mouse rat
              Cellular Senescence in human mouse rat

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    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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for CITED2 gene from 5/12 species (see all 12)    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 94.67(n)1
    95.17(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 80.43(n)
    81.7(a)
      395399  NM_206844.1  NP_996726.1 
    lizard
    (Anolis carolinensis)
    Reptilia CITED26
    Uncharacterized protein
    82(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)
    About This Section
    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/155 SNPs in CITED2 are shown (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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 602937    OMIM disorders: --

    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

  • 19 diseases for CITED2:    About MalaCards
    single ventricular septal defect    atrial septal defect sinus venosus    heterotaxy, visceral, 5    exencephaly
    dextrocardia    congenital heart defect    hypoxia    tetralogy of fallot
    ventricular septal defect    spina bifida    congestive heart failure    ulcerative colitis
    t-cell leukemia    colon cancer    hypertension    gastric cancer
    endotheliitis    breast cancer    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)
    About This Section

    PubMed articles for CITED2 gene, integrated from 9 sources (see all 59):
    (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. (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. (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. (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. (1999)
    5. Biological, clinical and population relevance of 95 l oci for blood lipids. (PubMed id 20686565)1, 4 Teslovich T.M....Kathiresan S. (2010)
    6. Genes encoding critical transcriptional activators fo r murine neural tube development and human spina bifida: a case-control study. (PubMed id 20932315)1, 4 Lu W....Zhu H. (2010)
    7. [Mutation analysis of Cited2 in patients with congeni tal heart disease]. (PubMed id 20654020)1, 4 Yang X.F....Tian J. (2010)
    8. Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. (PubMed id 19862010)1, 4 Ganesh S.K....Lin J.P. (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. (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. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 10370 HGNC: 1987 AceView: CITED2 Ensembl:ENSG00000164442 euGenes: HUgn10370
    ECgene: CITED2 H-InvDB: CITED2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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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