TFAP2B - transcription factor AP-2 beta Gene

Homo sapiens

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

Gene ID: 7021 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

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

Bioactive Molecules (1)

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

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