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    CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 [ Homo sapiens (human) ]

    Gene ID: 10370, updated on 17-Sep-2017
    Official Symbol
    CITED2provided by HGNC
    Official Full Name
    Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2provided by HGNC
    Primary source
    HGNC:HGNC:1987
    See related
    Ensembl:ENSG00000164442 MIM:602937; Vega:OTTHUMG00000015691
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ASD8; MRG1; VSD2; MRG-1; P35SRJ
    Summary
    The protein encoded by this gene inhibits transactivation of HIF1A-induced genes by competing with binding of hypoxia-inducible factor 1-alpha to p300-CH1. Mutations in this gene are a cause of cardiac septal defects. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]
    Orthologs
    Location:
    6q24.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 6 NC_000006.12 (139372255..139374650, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (139693392..139695787, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene taxilin beta Neighboring gene uncharacterized LOC102723690 Neighboring gene DnaJ heat shock protein family (Hsp40) member C7 pseudogene Neighboring gene uncharacterized LOC107986651 Neighboring gene long intergenic non-protein coding RNA 1625

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Atrial septal defect 8
    MedGen: C3280790 OMIM: 614433 GeneReviews: Not available
    Compare labs
    Ventricular septal defect 2
    MedGen: C3280783 OMIM: 614431 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Biological, clinical and population relevance of 95 loci for blood lipids.
    NHGRI GWA Catalog
    Discovery and refinement of loci associated with lipid levels.
    NHGRI GWA Catalog
    Genome-wide association study identifies loci affecting blood copper, selenium and zinc.
    NHGRI GWA Catalog
    Genome-wide association study of hematological and biochemical traits in a Japanese population.
    NHGRI GWA Catalog
    GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.
    NHGRI GWA Catalog
    Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.
    NHGRI GWA Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    NHGRI GWA Catalog
    Seventy-five genetic loci influencing the human red blood cell.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    LBD domain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    RNA polymerase II transcription coactivator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    RNA polymerase II transcription corepressor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    chromatin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    histone acetyltransferase binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein domain specific binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    transcription coactivator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription corepressor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription corepressor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    transcription factor activity, sequence-specific DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    adrenal cortex formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    determination of left/right symmetry ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    embryonic heart tube left/right pattern formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    heart development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    heart development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    left/right axis specification ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    left/right pattern formation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    liver development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of gene expression IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of transcription from RNA polymerase II promoter IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of transcription from RNA polymerase II promoter in response to hypoxia IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of transcription, DNA-templated IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    outflow tract morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of cell cycle ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of cell-cell adhesion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of gene expression IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of male gonad development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of peroxisome proliferator activated receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of transcription from RNA polymerase II promoter TAS
    Traceable Author Statement
    more info
     
    positive regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription, DNA-templated ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of transforming growth factor beta receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of animal organ formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    response to estrogen IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to fluid shear stress IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    response to hypoxia IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to hypoxia IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    sex determination IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    sex determination ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    spleen development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    ventricular septum morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    nuclear chromatin ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein complex IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Preferred Names
    cbp/p300-interacting transactivator 2
    Names
    MSG-related protein 1
    MSG1-related gene 1
    melanocyte-specific gene 1-related gene 1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_016169.1 RefSeqGene

      Range
      4999..7394
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001168388.2NP_001161860.1  cbp/p300-interacting transactivator 2 isoform 1

      See identical proteins and their annotated locations for NP_001161860.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AA767624, AF109161, AI087283, BC004377, BG900380
      Consensus CDS
      CCDS5195.1
      UniProtKB/Swiss-Prot
      Q99967
      UniProtKB/TrEMBL
      D9ZGF1
      Related
      ENSP00000442831.1, ENST00000536159.2
      Conserved Domains (1) summary
      pfam04487
      Location:1270
      CITED; CITED
    2. NM_001168389.2NP_001161861.2  cbp/p300-interacting transactivator 2 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AA400897, AA767624, AL592429, BC004377, BI763038, CF126189
      Consensus CDS
      CCDS75530.1
      UniProtKB/Swiss-Prot
      Q99967
      UniProtKB/TrEMBL
      A0A0A0MTM3
      Related
      ENSP00000444198.2, ENST00000537332.2
      Conserved Domains (1) summary
      pfam04487
      Location:6275
      CITED; CITED
    3. NM_006079.4NP_006070.2  cbp/p300-interacting transactivator 2 isoform 1

      See identical proteins and their annotated locations for NP_006070.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AA767624, AF109161, AI087283, BM851650
      Consensus CDS
      CCDS5195.1
      UniProtKB/Swiss-Prot
      Q99967
      UniProtKB/TrEMBL
      D9ZGF1
      Related
      ENSP00000356623.2, OTTHUMP00000017315, ENST00000367651.3, OTTHUMT00000042463
      Conserved Domains (1) summary
      pfam04487
      Location:1270
      CITED; CITED

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p7 Primary Assembly

      Range
      139372255..139374650 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018917.2 Alternate CHM1_1.1

      Range
      139956432..139958827 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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