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

CITED2 Gene

protein-coding   GIFtS: 62
GCID: GC06M139735

Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal...
 Explore 11 diseases affiliated with
CITED2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for CITED2    

Aliases
for CITED2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Cbp/P300-Interacting Transactivator, With Glu/Asp-Rich Carboxy-Terminal
Domain, 21 2
     VSD22
MRG11 2 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


Summaries
for CITED2 gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.1  NT_025741.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CITED2 gene promoter:
         AML1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CITED2 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

Proteins
for CITED2 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q99967

    • CITED2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000356623   ENSP00000442831   ENSP00000444198  

    Human Recombinant Protein Products: 
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    OriGene Protein Over-expression Lysate (see all 2): CITED2
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    Novus Biologicals CITED2 Proteins
    Novus Biologicals CITED2 Lysates
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    ProSpec Recombinant Protein for CITED2
    Uscn 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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    Uscn ELISAs and CLIAs for CITED2

    Protein Domains /
    Families
    for CITED2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    CITED2 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR007576 CITED

    Graphical View of Domain Structure for InterPro Entry Q99967

    ProtoNet protein and cluster: Q99967

    1 Blocks protein family: IPB007576 CITED

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


    Function
    for CITED2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    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

    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 plasmid: CITED2 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CITED2 (see all 7)
    OriGene shRNA RFP: CITED2
    OriGene siRNA: CITED2
    QIAGEN FlexiTube/FlexiPlate 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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    Cell Line
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    Search LifeMap BioReagents cell lines for CITED2

    In Situ Assay
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         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CITED2

    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


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

    Animal Models:
         Mouse knock-outs for CITED2: Cited2tm1.2Dunw Cited2tm1Bha Cited2tm1Ycy
         15/18 MGI mutant phenotypes (inferred from 7 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


    Pathways & Interactions
    for CITED2 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1HIF-1-alpha transcription factor network
    		HIF-1-alpha transcription factor network1.00
    2HIF-2-alpha transcription factor network
    		HIF-2-alpha transcription factor network1.00


    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-3908041 I2D: score=4 STRING: ENSP00000263253
    CREBBPQ927933, ENSP000002623674I2D: score=3 STRING: ENSP00000262367
    LHX2P504583, ENSP000003627174I2D: score=2 STRING: ENSP00000362717
    About this table

    Gene Ontology (GO): 5/64 biological process terms (GO ID links to tree view) (see all 64):    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



    Drugs & Compounds
    for CITED2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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
    Search CenterWatch for drugs/clinical trials and news about CITED2 / CITE2 

    Transcripts
    for CITED2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, 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 plasmid: CITED2 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CITED2 (see all 7)
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    Clone
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    Primer
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    Additional cDNA 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):

    N66827 BU633958 AA400897 BU620814 CB164035 AA878241 BQ001395 T30464 
    CF126274 AA290661 AI342351 Z40920 AI081427 AI168070 AI951503 BF725296 
    AA115076 CD366099 AA989710 BQ020739 CN480162 BG825244 CR607406 BE045782 

    GeneLoc Exon Structure


    Expression
    for CITED2 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AAAAGATACT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    CITED2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    3 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    HypoblastExtraembryonic Visceral EndodermAnterior Visceral Endoderm CellsExtraembryonic Tissues, Yolk Sac
    HypoblastExtraembryonic Visceral EndodermDistal Visceral Endoderm CellsExtraembryonic Tissues, Yolk Sac
    MesodermSeptum TransversumSeptum Transversum Mesenchyme CellsEarly Embryo, Mesoderm
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    Intermediate mesoderm-like cells (Generation of interm...)
    Extraembryonic endoderm-like cells (Generation of extrae...)

    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

    Primer
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CITED2

    Orthologs
    for CITED2 gene

    (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 4/12 species (see all 12)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 82(a)
    		 1 ↔ 1
    		 GL343200.1(804304-805023)
    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
    for CITED2 gene

    (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



    Genomic Variants
    for CITED2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/116 NCBI SNPs in CITED2 are shown (see all 116)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 6 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs754671061,2
    		C,F,--137254311(+) TGTTGA/CGTATT 3 -- ds50012Minor allele frequency- C:0.03NS NA 682
    rs770111501,2
    		--137254389(+) AACTTT/GGCAGC 3 -- ds50011Minor allele frequency- G:0.01WA 118
    rs758049131,2
    		C,F,--137254659(+) AAATAG/TAATAA 3 -- ut312Minor allele frequency- T:0.02NS WA 674
    rs77638701,2
    		C,F,--137254972(+) CAGTTT/AAGCAT 3 -- ut31 ese32Minor allele frequency- A:0.03NS WA 492
    rs11314311,2
    		C,F,O,A,H,--137255060(-) AACTTC/TGAAGG 3 -- ut31 ese321Minor allele frequency- T:0.30MN NS EA WA NA CSA 2544
    rs349651211,2
    		C,F,--137255268(+) ATAAGG/AGAGGT 3 -- ut311Minor allele frequency- A:0.03NS 484
    rs40760251,2
    		--137256414(-) GCGCCC/TGGGAA 3 -- int10--------
    rs776530581,2
    		C,F,--137256620(+) GCCCTG/ACTGCG 3 -- int1 us2k11Minor allele frequency- A:0.09WA 118
    rs18046871,2
    		C,--137256821(-) GCGACG/CAGCCC 3 -- us2k1 ut51 ese33Minor allele frequency- C:0.02NA NS 592
    rs412898251,2
    		C,F,--137256860(+) GGGGAC/TCTTCC 3 -- us2k1 ut511Minor allele frequency- T:0.01NS 480

    HapMap Linkage Disequilibrium report for CITED2 (139693393 - 139695785 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for CITED2: --
    Human Gene Mutation Database (HGMD): CITED2

    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for CITED2 gene

    (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.)
    About This Section
    CITED2 for disorders           About GeneDecksing

    OMIM gene information: 602937    OMIM disorders: --

    UniProtKB/Swiss-Prot: CITE2_HUMAN, Q99967
  • Defects in CITED2 are a cause of ventricular septal defect type 2 (VSD2) [MIM:614431]. VSD2 is 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
  • Defects in CITED2 are a cause of atrial septal defect type 8 (ASD8) [MIM:614433]. ASD8 is 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

    11 diseases for CITED2:    About MalaCards
    hypoxia    spina bifida    congenital heart defect    tetralogy of fallot
    exencephaly    dextrocardia    ulcerative colitis    t-cell leukemia
    colon cancer    breast cancer    leukemia

    2 diseases from the University of Copenhagen DISEASES database for CITED2:
    Tetralogy of Fallot     Spina bifida
    Genetic Association Database (GAD): CITED2
    Human Genome Epidemiology (HuGE) Navigator: CITED2 (6 documents)

    Export disorders for CITED2 gene to outside databases

    Publications
    for CITED2 gene

    (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 44):
    (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. 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)
    6. 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)
    7. Physical and functional interactions among AP-2 transcription factors, p300/CREB-binding protein, and CITED2. (PubMed id 12586840)1, 2 Braganca J....Bhattacharya S. (2003)
    8. Structural basis for negative regulation of hypoxia-i nducible factor-1alpha by CITED2. (PubMed id 12778114)1, 2 Freedman S.J....Eck M.J. (2003)
    9. Cardiac malformations, adrenal agenesis, neural crest defects and exencephaly in mice lacking Cited2, a new Tfap2 co-activator. (PubMed id 11694877)1, 2 Bamforth S.D....Bhattacharya S. (2001)
    10. Selective coactivation of estrogen-dependent transcription by CITED1 CBP/p300-binding protein. (PubMed id 11581164)1, 2 Yahata T....Shioda T. (2001)

    External Searches for CITED2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
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    Genome Databases showing CITED2 gene

    (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

    Other Databases showing CITED2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing CITED2 gene

    (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

    Intellectual Property
    for CITED2 gene

    (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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    About This Section

     
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