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Aliases for CITED2 Gene

Aliases for CITED2 Gene

  • Cbp/P300-Interacting Transactivator, With Glu/Asp-Rich Carboxy-Terminal Domain, 2 2 3
  • P35SRJ 3 4 6
  • MRG1 3 4 6
  • MSG-Related Protein 1 3 4
  • MRG-1 3 4
  • ASD8 3 6
  • VSD2 3 6
  • Melanocyte-Specific Gene 1-Related Gene 1 3
  • Cbp/P300-Interacting Transactivator 2 3
  • MSG1-Related Gene 1 3

External Ids for CITED2 Gene

Summaries for CITED2 Gene

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 ventricular septal defect 2 and atrial septal defect 8. Among its related pathways are HIF-2-alpha transcription factor network and HIF-1-alpha transcription factor network. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and transcription coactivator activity. An important paralog of this gene is CITED4.

UniProtKB/Swiss-Prot for CITED2 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CITED2 Gene

Genomics for CITED2 Gene

Genomic Location for CITED2 Gene

Start:
139,371,807 bp from pter
End:
139,374,650 bp from pter
Size:
2,844 bases
Orientation:
Minus strand

Genomic View for CITED2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CITED2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CITED2 Gene

Regulatory Elements for CITED2 Gene

Transcription factor binding sites by QIAGEN in the CITED2 gene promoter:

Proteins for CITED2 Gene

  • Protein details for CITED2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99967-CITE2_HUMAN
    Recommended name:
    Cbp/p300-interacting transactivator 2
    Protein Accession:
    Q99967
    Secondary Accessions:
    • O95426
    • Q5VTF4

    Protein attributes for CITED2 Gene

    Size:
    270 amino acids
    Molecular mass:
    28497 Da
    Quaternary structure:
    • 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.

    Three dimensional structures from OCA and Proteopedia for CITED2 Gene

    Alternative splice isoforms for CITED2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CITED2 Gene

Proteomics data for CITED2 Gene at MOPED

Post-translational modifications for CITED2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CITED2 Gene

No data available for DME Specific Peptides for CITED2 Gene

Domains for CITED2 Gene

Protein Domains for CITED2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for CITED2 Gene

Graphical View of Domain Structure for InterPro Entry

Q99967

UniProtKB/Swiss-Prot:

CITE2_HUMAN
Family:
  • Belongs to the CITED family.:
    • Q99967
genes like me logo Genes that share domains with CITED2: view

No data available for Gene Families for CITED2 Gene

Function for CITED2 Gene

Molecular function for CITED2 Gene

GENATLAS Biochemistry: 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
UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Induction: By hypoxia and deferoxamine.

Gene Ontology (GO) - Molecular Function for CITED2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001102 RNA polymerase II activating transcription factor binding --
GO:0001105 RNA polymerase II transcription coactivator activity --
GO:0001106 RNA polymerase II transcription corepressor activity IDA 22735262
GO:0003682 chromatin binding ISS --
GO:0003700 sequence-specific DNA binding transcription factor activity ISS --
genes like me logo Genes that share ontologies with CITED2: view
genes like me logo Genes that share phenotypes with CITED2: view

Animal Models for CITED2 Gene

MGI Knock Outs for CITED2:

miRNA for CITED2 Gene

miRTarBase miRNAs that target CITED2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for CITED2 Gene

Localization for CITED2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CITED2 Gene

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

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CITED2 Gene COMPARTMENTS Subcellular localization image for CITED2 gene
Compartment Confidence
nucleus 5
cytosol 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for CITED2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISS --
GO:0005634 nucleus IMP 12586840
GO:0005737 cytoplasm IMP 12586840
genes like me logo Genes that share ontologies with CITED2: view

Pathways for CITED2 Gene

genes like me logo Genes that share pathways with CITED2: view

Pathways by source for CITED2 Gene

Gene Ontology (GO) - Biological Process for CITED2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IMP 17906695
GO:0001568 blood vessel development --
GO:0001570 vasculogenesis --
GO:0001666 response to hypoxia IMP 17906695
GO:0001701 in utero embryonic development --
genes like me logo Genes that share ontologies with CITED2: view

Transcripts for CITED2 Gene

Unigene Clusters for CITED2 Gene

Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CITED2 Gene

No ASD Table

Relevant External Links for CITED2 Gene

GeneLoc Exon Structure for
CITED2
ECgene alternative splicing isoforms for
CITED2

Expression for CITED2 Gene

mRNA expression in normal human tissues for CITED2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for CITED2 Gene

SOURCE GeneReport for Unigene cluster for CITED2 Gene Hs.82071

genes like me logo Genes that share expressions with CITED2: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for CITED2 Gene

Orthologs for CITED2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CITED2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CITED2 35
  • 94.91 (n)
  • 92.73 (a)
CITED2 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CITED2 35
  • 90.74 (n)
  • 88.15 (a)
CITED2 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CITED2 35
  • 91.98 (n)
  • 88.52 (a)
CITED2 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cited2 35
  • 91.82 (n)
  • 90.33 (a)
Cited2 16
Cited2 36
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CITED2 36
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CITED2 36
  • 81 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cited2 35
  • 91.45 (n)
  • 90.71 (a)
chicken
(Gallus gallus)
Aves CITED2 35
  • 80.28 (n)
  • 80.43 (a)
CITED2 36
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CITED2 36
  • 83 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.25598 35
tropical clawed frog
(Silurana tropicalis)
Amphibia cited2 35
  • 74.67 (n)
  • 81.78 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10810 35
zebrafish
(Danio rerio)
Actinopterygii cited2 35
  • 69.71 (n)
  • 70.32 (a)
cited2 36
  • 66 (a)
OneToOne
idibd5008 35
Species with no ortholog for CITED2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CITED2 Gene

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

Paralogs for CITED2 Gene

Paralogs for CITED2 Gene

genes like me logo Genes that share paralogs with CITED2: view

Variants for CITED2 Gene

Sequence variations from dbSNP and Humsavar for CITED2 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs4177 -- 139,372,446(+) AATAA(-/AAA)TCTGT utr-variant-3-prime
rs1131396 -- 139,374,564(-) GAATC(G/T)GCCCC upstream-variant-2KB, utr-variant-5-prime
rs1131399 -- 139,374,428(-) CAGAA(A/T)TCGCA upstream-variant-2KB, utr-variant-5-prime
rs1131400 -- 139,373,924(-) ATGGC(A/C)ATGAA synonymous-codon, reference
rs1131431 -- 139,372,697(-) AACTT(C/T)GAAGG utr-variant-3-prime

Relevant External Links for CITED2 Gene

HapMap Linkage Disequilibrium report
CITED2
Human Gene Mutation Database (HGMD)
CITED2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for CITED2 Gene

Disorders for CITED2 Gene

(2) OMIM Diseases for CITED2 Gene (602937)

UniProtKB/Swiss-Prot

CITE2_HUMAN
  • 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, Eisenmengers syndrome, delayed fetal brain development, arrhythmias, and even sudden cardiac death. {ECO:0000269 PubMed:16287139}. 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. {ECO:0000269 PubMed:16287139}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for CITED2 Gene

Relevant External Links for CITED2

Genetic Association Database (GAD)
CITED2
Human Genome Epidemiology (HuGE) Navigator
CITED2
genes like me logo Genes that share disorders with CITED2: view

Publications for CITED2 Gene

  1. Molecular cloning and chromosomal localization of the human CITED2 gene encoding p35srj/Mrg1. (PMID: 10552932) Leung M.K. … Bhattacharya S. (Genomics 1999) 2 3 4 23
  2. msg1, a novel melanocyte-specific gene, encodes a nuclear protein and is associated with pigmentation. (PMID: 8901575) Shioda T. … Isselbacher K.J. (Proc. Natl. Acad. Sci. U.S.A. 1996) 2 3 4
  3. Identification and functional analysis of CITED2 mutations in patients with congenital heart defects. (PMID: 16287139) Sperling S. … Hammer S. (Hum. Mutat. 2005) 3 4 48
  4. Functional role of p35srj, a novel p300/CBP binding protein, during transactivation by HIF-1. (PMID: 9887100) Bhattacharya S. … Livingston D.M. (Genes Dev. 1999) 3 4 23
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for CITED2 Gene

Sources for CITED2 Gene

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