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

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: mouse all
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Genomic context

Location:: 6q24.1

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (139371807..139374648, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (140555711..140558549, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (139692944..139695785, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Sequence variations in GATA4 and CITED2 gene among patients with cardiac septation defects from Xinjiang, China.
Title: Sequence variations in GATA4 and CITED2 gene among patients with cardiac septation defects from Xinjiang, China.
Missense mutations in the CITED2 gene may contribute to congenital heart disease.
Title: Missense mutations in the CITED2 gene may contribute to congenital heart disease.
Cited2 is a key regulator of placental development and plasticity.
Title: Cited2 is a key regulator of placental development and plasticity.
Identification and Functional Verification of CITED2 Gene Promoter Region in Patients with Patent Ductus Arteriosus.
Title: Identification and Functional Verification of CITED2 Gene Promoter Region in Patients with Patent Ductus Arteriosus.
CITED2 is a conserved regulator of the uterine-placental interface.
Title: CITED2 is a conserved regulator of the uterine-placental interface.
CITED2 alleviates lipopolysaccharide-induced inflammation and pyroptosis in - human lung fibroblast by inhibition of NF-kappaB pathway.
Title: CITED2 alleviates lipopolysaccharide-induced inflammation and pyroptosis in - human lung fibroblast by inhibition of NF-κB pathway.
Downregulation of SUV39H1 and CITED2 Exerts Additive Effect on Promoting Adipogenic Commitment of Human Mesenchymal Stem Cells.
Title: Downregulation of SUV39H1 and CITED2 Exerts Additive Effect on Promoting Adipogenic Commitment of Human Mesenchymal Stem Cells.
Genetic analysis of the CITED2 gene promoter in isolated and sporadic congenital ventricular septal defects.
Title: Genetic analysis of the CITED2 gene promoter in isolated and sporadic congenital ventricular septal defects.
A gain-of-function mutation in CITED2 is associated with congenital heart disease.
Title: A gain-of-function mutation in CITED2 is associated with congenital heart disease.
Bioinformatics assay results showed that these novel cited2 mutations alter the RNA folding, protein structure, and, therefore, probable effect on the protein function and may play a significant role in the development of congenital heart diseases
Title: Novel Point Mutations of CITED2 Gene Are Associated with Non-familial Congenital Heart Disease (CHD) in Sporadic Pediatric Patients.

Submit: New GeneRIF Correction See all GeneRIFs (52)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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 2023-11-29) ClinGen Genome Curation Page Haploinsufficency No evidence available (Last evaluated 2023-11-29) ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH12860 (e-PCR)
- UniSTS:12826

Meis2 (e-PCR), detects polymorphism
- UniSTS:531343

D6S2114 (e-PCR)
- UniSTS:41131

CITED2_2297 (e-PCR)
- UniSTS:280503

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
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 response to hypoxia	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 asymmetry in lateral mesoderm	ISS Inferred from Sequence or Structural Similarity 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
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	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 neural tube closure	IEA Inferred from Electronic Annotation more info
involved_in nodal signaling pathway	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	IEA Inferred from Electronic Annotation more info
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
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 uterus development	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
located_in chromatin	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasm	IMP Inferred from Mutant Phenotype more info	PubMed
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
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IMP Inferred from Mutant Phenotype more info	PubMed
part_of protein-containing complex	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

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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)

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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

NG_016169.1 RefSeqGene

Range

5001..7842

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001168388.3 → NP_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:1 → 270

CITED; CITED
NM_001168389.3 → NP_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/TrEMBL

A0A0A0MTM3

Related

ENSP00000444198.2, ENST00000537332.2

Conserved Domains (1) summary

pfam04487
Location:6 → 275

CITED; CITED
NM_006079.5 → NP_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:1 → 270

CITED; CITED