CITED2 - Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 Gene

Also Known as ASD8; MRG1; VSD2; MRG-1; P35SRJ

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10370

About CITED2

Cytogenetic location: 6q24.1 Genomic coordinates (GRCh38): 6:139,371,807-139,374,648 (from NCBI)

This gene has 4 transcripts (splice variants), 140 orthologues, 2 paralogues and is associated with 7 phenotypes. Ubiquitous expression in fat (RPKM 119.5), ovary (RPKM 116.7) and 25 other tissues.

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]

CITED2 Products (3)

mRNA	Protein	Name
NM_001168388.3	NP_001161860.1	cbp/p300-interacting transactivator 2 isoform 1
NM_001168389.3	NP_001161861.2	cbp/p300-interacting transactivator 2 isoform 2
NM_006079.5	NP_006070.2	cbp/p300-interacting transactivator 2 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables LBD domain binding	IPI IPI: Inferred from physical interaction	15051727	GOA
enables histone acetyltransferase binding	IDA IDA: Inferred from direct assay	22735262	GOA
enables molecular function activator activity	EXP EXP: Inferred from Experiment	14594809	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	9887100	GOA
enables protein domain specific binding	IPI IPI: Inferred from physical interaction	14594809	GOA
enables transcription coactivator activity	IDA IDA: Inferred from direct assay	11581164	GOA
enables transcription corepressor activity	IDA IDA: Inferred from direct assay	9887100	GOA
enables transcription corepressor activity	IMP IMP: Inferred from mutant phenotype	17906695	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cell population proliferation	IDA IDA: Inferred from direct assay	15051727	GOA
involved in cellular response to hypoxia	IDA IDA: Inferred from direct assay	22735262	GOA
involved in heart development	IMP IMP: Inferred from mutant phenotype	16287139	GOA
involved in negative regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	15051727	GOA
involved in negative regulation of DNA-templated transcription	IMP IMP: Inferred from mutant phenotype	9887100	GOA
involved in negative regulation of cell migration	IMP IMP: Inferred from mutant phenotype	18054336	GOA
involved in negative regulation of gene expression	IDA IDA: Inferred from direct assay	15051727	GOA
involved in negative regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	22735262	GOA
involved in negative regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	17906695	GOA
involved in positive regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	9434189	GOA
involved in positive regulation of gene expression	IDA IDA: Inferred from direct assay	15051727	GOA
involved in positive regulation of peroxisome proliferator activated receptor signaling pathway	IDA IDA: Inferred from direct assay	15051727	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	22735262	GOA
involved in response to estrogen	IDA IDA: Inferred from direct assay	11581164	GOA
involved in response to fluid shear stress	IMP IMP: Inferred from mutant phenotype	12960175	GOA
involved in response to hypoxia	IDA IDA: Inferred from direct assay	9887100	GOA
involved in response to hypoxia	IMP IMP: Inferred from mutant phenotype	17906695	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IMP IMP: Inferred from mutant phenotype	12586840	GOA
located in nucleus	IDA IDA: Inferred from direct assay	9434189	GOA
located in nucleus	IMP IMP: Inferred from mutant phenotype	12586840	GOA
part of protein-containing complex	IMP IMP: Inferred from mutant phenotype	14594809	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CITED2 Protein Structure

CITED

0
100
200
270 a.a.

Protein Preferred Names	Protein Names
cbp/p300-interacting transactivator 2	MSG-related protein 1

CITED2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	CITED2	Q99967	HNF4A	Homo sapiens	P41235	Pull Down	17932483
Intra	CITED2	Q99967	PRPS1	Homo sapiens	P60891	Validated Y2H	32814053
Intra	CITED2	Q99967	PRPS1	Homo sapiens	P60891	Y2H Array	32814053
Intra	CITED2	Q99967	PRPS1	Homo sapiens	P60891	Y2H Pooling	32814053
Intra	CITED2	Q99967	TFAP2C	Homo sapiens	Q92754	Far-WB	12586840

Cross: Cross-species interaction Intra: Intraspecies interaction

CITED2 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82851	CITED2 Antibody (YA2596)	WB	Human, Mouse

Related Diseases

Diseases	Alias
Atrial Septal Defect 8	ASD8 Atrial Heart Septal Defect 8 Septal Defect, Atrial, Type 8
Ventricular Septal Defect 2	VSD2
Atrial Septal Defect Sinus Venosus	Sinus Venosus Asd Sinus Venosus Atrial Septal Defects Atrial Septal Defect, Sinus Venosus Type Asd, Sinus Venosus Type
Patent Foramen Ovale	Atrial Septal Defect Within Oval Fossa Foramen Ovale Patent Ostium Secundum Atrial Septal Defect Atrial Septal Defect, Ostium Secundum Type Foramen Ovale, Patent Defect, Patent Or Persistent, Ostium Secundum Ostium Secundum Type Atrial Septal Defect Persistent Ostium Secundum Asd Ostium Secundum Type Ostium Secundum Asd Osasd Asd, Ostium Secundum Type Pfo - [Patent Foramen Ovale] Open Foramen Ovale Open Oval Foramen Persistent Foramen Ovale Secundum Atrial Septal Defect
Dextrocardia With Situs Inversus	Situs Inversus Totalis Complete Situs Inversus Complete Situs Inversus Viscerum Situs Inversus
Tetralogy Of Fallot	TOF Fallot Tetralogy Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle Tetrad Of Fallot Fallot Tetrad Fallot Disease Fallot Complex Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle Interventricular Septal Defect, In Tetralogy Of Fallot Ventricular Septal Defect With Obstructed Right Ventricular Outflow Tof - [Tetralogy Of Fallot] Pulmonary Atresia With Ventricular Septal Defect [Fallot Type] Pulmonary Atresia, Ventricular Septal Defect And Mapcas Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]
Ventricular Septal Defect	Ventricular Septal Defects Interventricular Septal Defect Heart Septal Defects, Ventricular Ventricular Septal Abnormality Interventricular Septum Defect Ventricular Septum Defect Vsd - [Ventricular Septum Defect] Congenital Ventricular Septal Defect Single Ventricular Septal Defect
Char Syndrome	Patent Ductus Arteriosus With Facial Dysmorphism And Abnormal Fifth Digits CHAR
Right Atrial Isomerism	Ivemark Syndrome Asplenia With Cardiovascular Anomalies RAI Asplenia Syndrome Asplenia Right Isomerism Splenic Agenesis Syndrome Bilateral Right-Sidedness Sequence Right Sided Atrial Isomerism Isomerism Of Right Atrial Appendage Heterotaxy, Visceroatrial, Autosomal Recessive Polyasplenia Vah, Autosomal Recessive Atrial Isomerism, Right Congenital Absence Of Spleen Bilateral Right-Sidedness
Pleomorphic Rhabdomyosarcoma	Adult Pleomorphic Rhabdomyosarcoma Anaplastic Rhabdomyosarcoma Pleomorphic Rhabdomyosarcoma, Adult Type
Double Outlet Right Ventricle	Double Outlet Right Ventricle With Subpulmonary Ventricular Septal Defect Taussig-Bing Syndrome Dextrotransposition Of Aorta Taussig-Bing Syndrome Or Defect Dorv Dorv With Subpulmonary Vsd Dorv-Tga Double Outlet Right Ventricle With Transposition Of The Great Arteries Double Outlet Right Ventricle With Subpulmonary Interventricular Communication, Transposition Type Taussig-Bing Heart Taussig-Bing Malformation Taussig-Bing Complex Taussig-Bing Defect Taussig-Bing Double Outlet Right Ventricle With Remote Ventricular Septal Defect Double Outlet Right Ventricle With Uncommitted Ventricular Septal Defect Double Outlet Right Ventricle With Non-Committed Interventricular Communication Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication Without Pulmonary Stenosis Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication And Pulmonary Stenosis
Heart Septal Defect	Septal Defect Heart Septal Defects Cardiac Septal Defects Congenital Septal Defect Of Heart
Neural Tube Defects	Spina Bifida Neural Tube Defect NTD Neural Tube Defects, Susceptibility To Spinal Dysraphism Spina Bifida, Susceptibility To Rachischisis Cleft Spine Open Spine Hydrocele Spinalis Neural Tube Defect Nos Sb - [Spina Bifida] Spinal Hernia Nos Spinal Fissure Nos
46,Xy Sex Reversal	Swyer Syndrome Pure Gonadal Dysgenesis 46,Xy Gonadal Dysgenesis, Xy Female Type Gonadal Dysgenesis, 46,Xy 46,Xy Cgd 46,Xy Complete Gonadal Dysgenesis 46,Xy Pure Gonadal Dysgenesis 46 Xy Gonadal Dysgenesis 46, Xy Cgd 46, Xy Complete Gonadal Dysgenesis 46, Xy Pure Gonadal Dysgenesis Xy Pure Gonadal Dysgenesis Female With 46,Xy Karyotype Xy Females
Transposition Of The Great Arteries, Dextro-Looped	Transposition Of The Great Arteries DTGA1 Dextro-Looped Transposition Of The Great Arteries DTGA Congenitally Uncorrected Transposition Of The Great Arteries Congenitally Uncorrected Transposition Of The Great Vessels D-Tga Isolated Ventriculoarterial Discordance Ventriculoarterial Discordance With Atrioventricular Concordance Dextro-Transposition Of The Great Arteries Transposition Of The Great Vessels Great Vessels Transposition Transposition Of The Great Arteries, Dextro-Looped 1 Arteries, Great, Transposition, Dextro-Looped Ventriculoarterial Discordance, Isolated D-Transposition Of The Great Arteries Complete Transposition Tga Tgv Transposition Of Great Vessels Transposition Of The Great Arteries Dextro-Looped 1 Dextro-Looped Transposition Of The Great Arteries 1 Discordant Ventriculoarterial Connection Complete Transposition Of Great Vessels Great Vessels Complete Transposition Total Great Vessel Transposition Transposition Of Great Arteries Complete Tga - [Transposition Of The Great Arteries] Tga - [Transposition Of Great Arteries] Tgv - [Transposition Of Great Vessels] Transposition Of Great Vessels Nos Transposed Vessels Nos
Atrial Heart Septal Defect	Atrial Septal Defect Atrial Septal Defects Atrioseptal Defect Auricular Septal Defect Congenital Atrial Septal Defect Interatrial Septal Defect Interauricular Septal Defect Heart Septal Defects, Atrial Septal Defect, Atrial
Cleft Palate, Isolated	Cleft Palate Isolated Cleft Palate CPI Cp Palatoschisis Cleft Palate Isolated Uranostaphyloschisis Congenital Fissure Of Palate Cleft Of Secondary Palate

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02729	CITED2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21106	Cited2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27625	Cited2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	CITED2	RGD	RGD:620112
Mus musculus	CITED2	MGD	MGI:1306784
Bos taurus	CITED2	VGNC	VGNC:27377
Canis familiaris	CITED2	VGNC	VGNC:39284
Felis catus	CITED2	VGNC	VGNC:102401
Macaca mulatta	CITED2	VGNC	VGNC:71228
Others	CITED2	NCBI