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

Homo sapiens

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

Gene ID: 10370 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02729	CITED2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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