1. Gene
  2. TFAP2B - transcription factor AP-2 beta Gene

TFAP2B - transcription factor AP-2 beta Gene

中文名称:转录因子 AP-2 β

种属: Homo sapiens

同用名: PDA2; AP-2B; AP2-B; AP-2beta

基因 ID: 7021 | 基因类型: protein coding

关于 TFAP2B

Cytogenetic location: 6p12.3 Genomic coordinates (GRCh38): 6:50,818,355-50,847,619 (from NCBI)

This gene has 3 transcripts (splice variants), 195 orthologues, 4 paralogues and is associated with 5 phenotypes. Biased expression in kidney (RPKM 3.0), skin (RPKM 2.7) and 4 other tissues.

功能概要

该基因编码 AP-2 转录因子家族的成员。 AP-2 蛋白与其他 AP-2 家族成员形成同二聚体或异二聚体,并结合特定的 DNA 序列。它们被认为在胚胎发育过程中刺激细胞增殖并抑制特定细胞类型的终末分化。特定 AP-2 家族成员的表达模式和对不同启动子的结合亲和力不同。这种蛋白质既可以作为转录激活因子,也可以作为抑制因子。该基因的突变导致常染色体显性 Char 综合征,表明该基因在神经嵴细胞衍生物的分化中起作用。[RefSeq 提供,2008 年 7 月]

This gene encodes a member of the AP-2 family of transcription factors. AP-2 proteins form homo- or hetero-dimers with Other AP-2 family members and bind specific DNA sequences. They are thought to stimulate cell proliferation and suppress terminal differentiation of specific cell types during embryonic development. Specific AP-2 family members differ in their expression patterns and binding affinity for different promoters. This protein functions as both a transcriptional activator and repressor. Mutations in this gene result in autosomal dominant Char syndrome, suggesting that this gene functions in the differentiation of neural crest cell derivatives. [provided by RefSeq, Jul 2008]

TFAP2B 基因产物(1)

mRNA Protein Name
NM_003221.4 NP_003212.2 transcription factor AP-2-beta
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in fat cell differentiation IEP
IEP: 通过表达模式推断
16373396 GOA
involved in glucose metabolic process IMP
IMP: 通过突变表型推断
15940393 GOA
involved in negative regulation of DNA-templated transcription IDA
IDA: 通过直接分析推断
20607706 GOA
acts upstream of negative effect negative regulation of apoptotic process IDA
IDA: 通过直接分析推断
17525748 GOA
involved in negative regulation of cell population proliferation IDA
IDA: 通过直接分析推断
20607706 GOA
involved in negative regulation of transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
7559606 GOA
involved in positive regulation of DNA-templated transcription IDA
IDA: 通过直接分析推断
11505339 GOA
involved in positive regulation of DNA-templated transcription IMP
IMP: 通过突变表型推断
16373396 GOA
involved in positive regulation of cell population proliferation IDA
IDA: 通过直接分析推断
17525748 GOA
involved in positive regulation of neuron apoptotic process IDA
IDA: 通过直接分析推断
20607706 GOA
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
7555706 GOA
involved in regulation of cell differentiation IDA
IDA: 通过直接分析推断
20607706 GOA
involved in regulation of insulin secretion IMP
IMP: 通过突变表型推断
15940393 GOA
involved in retina layer formation IEP
IEP: 通过表达模式推断
20607706 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nucleus IDA
IDA: 通过直接分析推断
20607706 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

TFAP2B 蛋白结构

TF_AP-2

TF_AP-2: Transcription factor AP-2 (228 - 431)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 460 a.a.
蛋白主名 其他名称

transcription factor AP-2-beta

AP2-beta

TFAP2B 抗体

目录号 产品名 应用 反应物种
HY-P84697 TFAP2B Antibody (YA4394) WB, FC, ELISA Human

关联疾病

疾病名称 别名
Char Syndrome

Patent Ductus Arteriosus With Facial Dysmorphism And Abnormal Fifth Digits

CHAR

Patent Ductus Arteriosus 2

PDA2

Familial Patent Arterial Duct
Intestinal Pseudo-Obstruction

Chronic Intestinal Pseudoobstruction

Chronic Intestinal Pseudo-Obstruction

Cipo

Neuronal Intestinal Dysplasia

Hollow Visceral Myopathy

Familial Visceral Neuropathy

Paralytic Ileus

Intestinal Pseudoobstruction

Chronic Idiopathic Intestinal Pseudo-Obstruction

Ciip

Congenital Short Bowel Syndrome

Enteric Neuropathy

Familial Visceral Myopathy

Ipo

Pseudo-Obstruction Of Intestine

Pseudointestinal Obstruction Syndrome

Pseudoobstructive Syndrome

Congenital Idiopathic Intestinal Pseudoobstruction

Visceral Myopathy, Familial

Craniosynostosis

Premature Closure Of Cranial Sutures

Craniostenosis

Craniosynostosis Syndrome

Cso

Craniosynostoses

Congenital Ossification Of Cranial Sutures

Congenital Ossification Of Sutures Of Skull

Craniostosis

Imperfect Fusion Of Skull

Congenital Imperfect Closure Skull

Imperfect Closure Skull

Premature Closure Cranium Sutures

Deficiency Of Craniofacial Axis

Orbit Embryonal Rhabdomyosarcoma

Embryonal Rhabdomyosarcoma Of The Orbit

Branchiooculofacial Syndrome

Branchio-Oculo-Facial Syndrome

BOFS

Bof Syndrome

Hemangiomatous Branchial Clefts-Lip Pseudocleft Syndrome

Lip Pseudocleft-Hemangiomatous Branchial Cyst Syndrome

Branchial Clefts With Characteristic Facies, Growth Retardation, Imperforate Nasolacrimal Duct, And Premature Aging

Branchial Clefts With Characteristic Facies Growth Retardation Imperforate Nasolacrimal Duct And Premature Aging

Bofs Syndrome

Lip Pseudocleft-Hemagiomatous Branchial Cyst Syndrome

Patent Ductus Arteriosus 1

Patent Ductus Arteriosus

PDA1

Pda

Ductus Arteriosus, Patent

Patent Ductus Arteriosus, Susceptibility To

Patent Ductus Botalli

Patency Of The Ductus Arteriosus

Patent Ductus Arteriosus Familial

Ductus Arteriosus Patent

Patent Ductus Arteriosus - Persisting Type

Hyaline Fibromatosis Syndrome

Juvenile Hyaline Fibromatosis

Inherited Systemic Hyalinosis

Puretic Syndrome

Infantile Systemic Hyalinosis

HFS

Hyalinosis, Systemic

Systemic Hyalinosis

Molluscum Fibrosum

Murray Syndrome

Murray-Puretic-Drescher Syndrome

Ish

Jhf

Fibromatosis, Juvenile Hyaline

Hyalinosis, Systemic Infantile

Fibromatosis, Hyaline Syndrome

Neurofibromatosis 1

Orbit Rhabdomyosarcoma

Rhabdomyosarcoma Of The Orbit

Rhabdomyosarcoma Of Orbit

Type 2 Diabetes Mellitus

Insulin Resistance

NIDDM

Type 2 Diabetes

Diabetes Mellitus, Non-Insulin-Dependent

T2D

Noninsulin-Dependent Diabetes Mellitus

Diabetes Mellitus, Type Ii

Maturity-Onset Diabetes

Insulin Resistance, Severe, Digenic

Diabetes Mellitus, Type 2

Diabetes Mellitus, Noninsulin-Dependent

Diabetes Mellitus, Noninsulin-Dependent, Association With

Diabetes Mellitus, Noninsulin-Dependent, Late Onset

Hypertension, Insulin Resistance-Related, Susceptibility To

Insulin Resistance, Susceptibility To

Non-Insulin-Dependent Diabetes Mellitus

Type Ii Diabetes Mellitus

Adult-Onset Diabetes Mellitus

Maturity-Onset Diabetes Mellitus

Diabetes Mellitus Type 2

Type Ii Diabetes

Type 2 Diabetes Mellitus, Susceptibility To

Diabetes, Type 2

Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To

Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To

Diabetes Mellitus, Type 2, Susceptibility To

Diabetes Mellitus, Noninsulin-Dependent, 2

Diabetes Mellitus, Type Ii, Susceptibility To

Hypertension, Insulin Resistance-Related

Adult-Onset Diabetes

Aodm

Diabetes Mellitus, Adult-Onset

Diabetes Mellitus Type Ii

Diabetes Mellitus Type 2, Susceptibility To

Diabetes, Type Ii, Susceptibility To

Diabetes Type 2

Diabetes Mellitus

Adult Onset Diabetes

Maturity Onset Diabetes

Nonketotic Diabetes

Non-Insulin Dependent Diabetes Mellitus

T2dm - [Type 2 Diabetes Mellitus]

Niddm - [Non Insulin Dependent Diabetes Mellitus]

Dm2

Dm Type Ii

Diabetic Type 2

Insulin Requiring Type 2 Diabetes

Noninsulin Dependent Diabetes

Non-Insulin-Dependent Diabetes Mellitus Without Complications

Diabetes Due To Insulin Secretory Defect

Diabetes Mellitus Due To Insulin Secretory Defect

Non-Insulin-Dependent Diabetes Of The Young

Senile Diabetes

Nonketotic Hyperglycaemia

Stable Diabetes

Axenfeld-Rieger Syndrome

Axenfeld Syndrome

Rieger Syndrome

Rieger Anomaly

Axenfeld Anomaly

Anomaly, Rieger'S

Hagedoom Syndrome

Rgs - Rieger Syndrome

Rieger'S Anomaly

Goniodysgenesis Hypodontia

Iridogoniodysgenesis With Somatic Anomalies

Ars

Axenfeld And Rieger Anomaly

Axra

Axrs

Rieger Eye Malformation Sequence

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

Tooth Agenesis

Oligodontia

Hypodontia

Selective Tooth Agenesis

Tooth Agenesis, Selective

Familial Tooth Agenesis

Anodontia

Congenital Absence Of One Tooth

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]

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
Felis catus TFAP2B VGNC VGNC:66109
Mus musculus TFAP2B MGD MGI:104672
Rattus norvegicus TFAP2B RGD RGD:1306321
Canis familiaris TFAP2B VGNC VGNC:47284
Bos taurus TFAP2B VGNC VGNC:35777
Macaca mulatta TFAP2B VGNC VGNC:78321