TFAP2C - transcription factor AP-2 gamma Gene

Homo sapiens

Also known as ERF1; TFAP2G; hAP-2g; AP2-GAMMA

Gene ID: 7022 | Gene type: protein coding

About TFAP2C

Cytogenetic location: 20q13.31 Genomic coordinates (GRCh38): 20:56,629,306-56,639,283 (from NCBI)

This gene has 2 transcripts (splice variants), 217 orthologues and 4 paralogues. Biased expression in skin (RPKM 24.1), placenta (RPKM 10.9) and 6 other tissues.

Summary

The protein encoded by this gene is a sequence-specific DNA-binding transcription factor involved in the activation of several developmental genes. The encoded protein can act as either a homodimer or heterodimer with other family members and is induced during retinoic acid-mediated differentiation. It plays a role in the development of the eyes, face, body wall, limbs, and neural tube. [provided by RefSeq, Jul 2008]

TFAP2C Products(1)

mRNA	Protein	Name
NM_003222.4	NP_003213.1	transcription factor AP-2 gamma

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables DNA binding	IDA IDA: Inferred from direct assay	12072434	GOA
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	11278550	GOA
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	11278550	GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	24413532	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11694877	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 male gonad development	IEP IEP: Inferred from expression pattern	17848411	GOA
involved in negative regulation of gene expression, epigenetic	IMP IMP: Inferred from mutant phenotype	24413532	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	22735262	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in nucleus	IDA IDA: Inferred from direct assay	24413532	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

TFAP2C Protein Structure

TF_AP-2

0
100
200
300
400
450 a.a.

Protein Preferred Names

Protein Names

transcription factor AP-2 gamma

activating enhancer-binding protein 2 gamma

Recombinant TFAP2C Proteins

Cat. No.	Product Name	Accession	Purity
HY-P76728	AP-2 gamma/TFAP2C Protein, Human (His)	Q92754-1 (L128-V223)	≥95%

Related Diseases

Diseases

Alias

Extragonadal Seminoma

Primary Extragonadal Seminoma

Char Syndrome

Patent Ductus Arteriosus With Facial Dysmorphism And Abnormal Fifth Digits

CHAR

Seminoma

Seminoma, Pure

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

Breast Cancer

Breast Carcinoma	Male Breast Cancer
Breast Cancer, Familial	Malignant Neoplasm Of Breast
Breast Cancer, Susceptibility To	Breast Cancer, Early-Onset
Malignant Tumor Of Breast	Carcinoma Of Male Breast
Breast Cancer, Invasive Ductal	Breast Cancer, Protection Against
Breast Cancer, Somatic	Breast Cancer, Male
Breast Cancer, Lobular, Somatic	Breast Tumor
Mammary Cancer	Mammary Tumor
Malignant Neoplasm Of Male Breast	Mammary Carcinoma
Male Breast Carcinoma	Familial Cancer Of Breast
Invasive Ductal Breast Carcinoma	Breast Cancer Susceptibility
Breast Cancer, Male, Susceptibility To	Breast Cancer, Early-Onset, Susceptibility To
Malignant Tumor Of The Breast	Mammary Neoplasm
Primary Breast Cancer	Neoplasm Of Male Breast
Carcinoma Of Breast	Breast Cancer In Men
Familial Breast Cancer	Cancer Of Breast
BC	Breast Cancer Familial
Breast Cancer Familial Male	Breast Cancer, Familial Male
Breast Male Carcinoma	Breast Neoplasms
Breast Neoplasms, Male	Mammary Tumors
Mammary Carcinomas	Cancer, Breast
Cancer, Breast, Susceptibility	Invasive Breast Ductal Carcinoma
Breast Neoplasm	Susceptibility To Breast Cancer
Mammary Neoplasms	Animal Mammary Neoplasms
Primary Malignant Neoplasm Of Breast	Infiltrating Ductal Carcinoma Of Breast
Infiltrating Duct Carcinoma Of Unspecified Site	Infiltrating Ductular Carcinoma Of Unspecified Site
Invasive Breast Carcinoma Of No Special Type	Microinvasive Carcinoma Of Breast
Carcinoma With Apocrine Differentiation

Brain Germinoma

Intracranial Germinoma

Germinoma Of The Brain

Spermatocytoma

Spermatocytic Seminoma

Childhood Germ Cell Cancer

Pediatric Germ Cell Tumor	Paediatric Germ Cell Cancer
Paediatric Germ Cell Neoplasm	Pediatric Germ Cell Cancer
Pediatric Germ Cell Neoplasm

Testicular Germ Cell Cancer

Germ Cell Tumor Of Testis	Testicular Germ Cell Tumor
Testicular Germ Cell Neoplasm	Testicular Malignant Germ Cell Tumor

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

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-RS14410	TFAP2C Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	TFAP2C	VGNC	VGNC:47285
Bos taurus	TFAP2C	VGNC	VGNC:35778
Rattus norvegicus	TFAP2C	RGD	RGD:1303185
Mus musculus	TFAP2C	MGD	MGI:106032
Macaca mulatta	TFAP2C	VGNC	VGNC:78322
Felis catus	TFAP2C	VGNC	VGNC:66110
Others	TFAP2C	NCBI

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