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

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

中文名称:Cbp/p300 与富 Glu/Asp 的羧基末端结构域 2 相互作用的反式激活因子

种属: Homo sapiens

同用名: ASD8; MRG1; VSD2; MRG-1; P35SRJ

基因 ID: 10370 | 基因类型: protein coding

关于 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.

功能概要

该基因编码的蛋白质通过与缺氧诱导因子 1-α 与 p300-CH1 的结合竞争来抑制 HIF1A 诱导基因的反式激活。该基因的突变是心脏间隔缺损的一个原因。已经观察到该基因编码多种亚型的可变剪接转录物变体。[RefSeq 提供,2012 年 5 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables LBD domain binding IPI
IPI: 通过物理相互作用推断
15051727 GOA
enables histone acetyltransferase binding IDA
IDA: 通过直接分析推断
22735262 GOA
enables molecular function activator activity EXP
EXP: 通过实验结果推断
14594809 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
9887100 GOA
enables protein domain specific binding IPI
IPI: 通过物理相互作用推断
14594809 GOA
enables transcription coactivator activity IDA
IDA: 通过直接分析推断
11581164 GOA
enables transcription corepressor activity IDA
IDA: 通过直接分析推断
9887100 GOA
enables transcription corepressor activity IMP
IMP: 通过突变表型推断
17906695 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cell population proliferation IDA
IDA: 通过直接分析推断
15051727 GOA
involved in cellular response to hypoxia IDA
IDA: 通过直接分析推断
22735262 GOA
involved in heart development IMP
IMP: 通过突变表型推断
16287139 GOA
involved in negative regulation of DNA-templated transcription IDA
IDA: 通过直接分析推断
15051727 GOA
involved in negative regulation of DNA-templated transcription IMP
IMP: 通过突变表型推断
9887100 GOA
involved in negative regulation of cell migration IMP
IMP: 通过突变表型推断
18054336 GOA
involved in negative regulation of gene expression IDA
IDA: 通过直接分析推断
15051727 GOA
involved in negative regulation of transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
22735262 GOA
involved in negative regulation of transcription by RNA polymerase II IMP
IMP: 通过突变表型推断
17906695 GOA
involved in positive regulation of DNA-templated transcription IDA
IDA: 通过直接分析推断
9434189 GOA
involved in positive regulation of gene expression IDA
IDA: 通过直接分析推断
15051727 GOA
involved in positive regulation of peroxisome proliferator activated receptor signaling pathway IDA
IDA: 通过直接分析推断
15051727 GOA
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
22735262 GOA
involved in response to estrogen IDA
IDA: 通过直接分析推断
11581164 GOA
involved in response to fluid shear stress IMP
IMP: 通过突变表型推断
12960175 GOA
involved in response to hypoxia IDA
IDA: 通过直接分析推断
9887100 GOA
involved in response to hypoxia IMP
IMP: 通过突变表型推断
17906695 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IMP
IMP: 通过突变表型推断
12586840 GOA
located in nucleus IDA
IDA: 通过直接分析推断
9434189 GOA
located in nucleus IMP
IMP: 通过突变表型推断
12586840 GOA
part of protein-containing complex IMP
IMP: 通过突变表型推断
14594809 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

CITED2 蛋白结构

CITED

CITED: CITED (1 - 167)

CITED

CITED: CITED (186 - 270)

  • 0
  • 100
  • 200
  • 270 a.a.
蛋白主名 其他名称

cbp/p300-interacting transactivator 2

MSG-related protein 1

CITED2 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
CITED2 Q99967 HNF4A Homo sapiens P41235 17932483
种属内
CITED2 Q99967 PRPS1 Homo sapiens P60891 32814053
种属内
CITED2 Q99967 PRPS1 Homo sapiens P60891 32814053
种属内
CITED2 Q99967 PRPS1 Homo sapiens P60891 32814053
种属内
CITED2 Q99967 TFAP2C Homo sapiens Q92754 12586840
种属间: 跨种属相互作用 种属内: 同种属相互作用

CITED2 抗体

目录号 产品名 应用 反应物种
HY-P82851 CITED2 Antibody (YA2596) WB Human, Mouse

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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