U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

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

    Gene ID: 10370, updated on 7-Sep-2023

    Summary

    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; AllianceGenome:HGNC:1987
    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]
    Expression
    Ubiquitous expression in fat (RPKM 119.5), ovary (RPKM 116.7) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CITED2 in Genome Data Viewer
    Location:
    6q24.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (139371807..139374648, complement)
    RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (140555711..140558549, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (139692944..139695785, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene taxilin beta Neighboring gene uncharacterized LOC102723690 Neighboring gene Sharpr-MPRA regulatory region 11439 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:139583345-139584544 Neighboring gene Sharpr-MPRA regulatory region 14530 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:139634569-139635306 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:139635307-139636044 Neighboring gene DnaJ heat shock protein family (Hsp40) member C7 pseudogene Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:139689956-139690774 Neighboring gene Sharpr-MPRA regulatory region 8989 Neighboring gene uncharacterized LOC107986651 Neighboring gene CRISPRi-validated cis-regulatory element chr6.4959 Neighboring gene CRISPRi-validated cis-regulatory element chr6.4960 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:139794122-139794622 Neighboring gene long intergenic non-protein coding RNA 1625

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2022-06-22)

    ClinGen Genome Curation Page
    Haploinsufficency

    Some evidence for dosage pathogenicity (Last evaluated 2022-06-22)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables LBD domain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables RNA polymerase II-specific DNA-binding transcription factor binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables SMAD binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables chromatin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables histone acetyltransferase binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables molecular function activator activity EXP
    Inferred from Experiment
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein domain specific binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transcription coactivator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables transcription coactivator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables transcription corepressor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables transcription corepressor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in adrenal cortex formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in bone morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cardiac neural crest cell development involved in heart development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell population proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular senescence IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in central nervous system development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cranial nerve morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in decidualization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in determination of left/right symmetry ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in embryonic camera-type eye morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryonic heart tube left/right pattern formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in embryonic placenta development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryonic process involved in female pregnancy IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in endocardial cushion development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in erythrocyte development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in granulocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in heart development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in heart development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in heart looping IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in hematopoietic progenitor cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in left/right axis specification ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in left/right pattern formation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in lens morphogenesis in camera-type eye IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in liver development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in male gonad development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of DNA-templated transcription IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of cardiac muscle cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of gene expression IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of transcription from RNA polymerase II promoter in response to hypoxia IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in neural tube closure IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in outflow tract morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in peripheral nervous system development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of DNA-templated transcription ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of cell cycle ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of cell-cell adhesion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of gene expression IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of male gonad development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of peroxisome proliferator activated receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of transforming growth factor beta receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in pulmonary artery morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of animal organ formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in response to estrogen IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to fluid shear stress IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in response to hypoxia IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to hypoxia IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in response to mechanical stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in sex determination IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in sex determination ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in skeletal muscle cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in spleen development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in thymus development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in transforming growth factor beta receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in trophectodermal cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in vasculogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ventricular septum morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    part_of chromatin ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of protein-containing complex IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 

    General protein information

    Preferred Names
    cbp/p300-interacting transactivator 2
    Names
    MSG-related protein 1
    MSG1-related gene 1
    melanocyte-specific gene 1-related gene 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5001..7842
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001168388.3NP_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, AL592429, BC004377, BG900380
      Consensus CDS
      CCDS5195.1
      UniProtKB/Swiss-Prot
      O95426, Q5VTF4, Q99967
      UniProtKB/TrEMBL
      D9ZGF1
      Related
      ENSP00000442831.1, ENST00000536159.2
      Conserved Domains (1) summary
      pfam04487
      Location:1270
      CITED; CITED
    2. NM_001168389.3NP_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_006079.5NP_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, AL592429, BM851650
      Consensus CDS
      CCDS5195.1
      UniProtKB/Swiss-Prot
      O95426, Q5VTF4, Q99967
      UniProtKB/TrEMBL
      D9ZGF1
      Related
      ENSP00000356623.2, ENST00000367651.4
      Conserved Domains (1) summary
      pfam04487
      Location:1270
      CITED; CITED

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      139371807..139374648 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      140555711..140558549 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)