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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 11-Sep-2019

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
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

Genomic context

See CITED2 in Genome Data Viewer
Location:
6q24.1
Exon count:
4
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (139371807..139374648, 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

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

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

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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA-binding transcription factor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
LBD domain binding IPI
Inferred from Physical Interaction
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 IBA
Inferred from Biological aspect of Ancestor
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 
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
 
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 by RNA polymerase II 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 by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription by RNA polymerase II 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
 
regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
sex determination ISS
Inferred from Sequence or Structural Similarity
more info
 
spleen development ISS
Inferred from Sequence or Structural Similarity
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
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)

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_001168388.2NP_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_006079.5NP_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
    Q99967
    UniProtKB/TrEMBL
    D9ZGF1
    Related
    ENSP00000356623.2, ENST00000367651.4
    Conserved Domains (1) summary
    pfam04487
    Location:1270
    CITED; CITED

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

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