TFAP2B - transcription factor AP-2 beta Gene

Also Known as PDA2; AP-2B; AP2-B; AP-2beta

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 7021

About 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.

Summary

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 Products (1)

mRNA	Protein	Name
NM_003221.4	NP_003212.2	transcription factor AP-2-beta

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	7559606	GOA
enables DNA-binding transcription factor activity	IDA IDA: Inferred from direct assay	11505339	GOA
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	7555706	GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	7555706	GOA
enables cis-regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	16373396	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	7555706	GOA
enables protein heterodimerization activity	IPI IPI: Inferred from physical interaction	11505339	GOA
enables protein homodimerization activity	IPI IPI: Inferred from physical interaction	11505339	GOA
enables sequence-specific DNA binding	IDA IDA: Inferred from direct assay	11505339	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in fat cell differentiation	IEP IEP: Inferred from expression pattern	16373396	GOA
involved in glucose metabolic process	IMP IMP: Inferred from mutant phenotype	15940393	GOA
involved in negative regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	20607706	GOA
acts upstream of negative effect negative regulation of apoptotic process	IDA IDA: Inferred from direct assay	17525748	GOA
involved in negative regulation of cell population proliferation	IDA IDA: Inferred from direct assay	20607706	GOA
involved in negative regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	7559606	GOA
involved in positive regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	11505339	GOA
involved in positive regulation of DNA-templated transcription	IMP IMP: Inferred from mutant phenotype	16373396	GOA
involved in positive regulation of cell population proliferation	IDA IDA: Inferred from direct assay	17525748	GOA
involved in positive regulation of neuron apoptotic process	IDA IDA: Inferred from direct assay	20607706	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	7555706	GOA
involved in regulation of cell differentiation	IDA IDA: Inferred from direct assay	20607706	GOA
involved in regulation of insulin secretion	IMP IMP: Inferred from mutant phenotype	15940393	GOA
involved in retina layer formation	IEP IEP: Inferred from expression pattern	20607706	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in nucleus	IDA IDA: Inferred from direct assay	20607706	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

TFAP2B Protein Structure

TF_AP-2

0
100
200
300
400
460 a.a.

Protein Preferred Names	Protein Names
transcription factor AP-2-beta	AP2-beta

TFAP2B Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P84697	TFAP2B Antibody (YA4394)	WB, FC, ELISA	Human
HY-P84697A	TFAP2B Antibody (YA4394)(PBS only)	WB, FC, ELISA	Human

Related Diseases

Diseases	Alias
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]

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14409	TFAP2B Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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
Others	TFAP2B	NCBI