Human Gene TFAP2A (ENST00000379613.10_11) from GENCODE V47lift37

JavaScript is disabled in your web browser

You must have JavaScript enabled in your web browser to use the Genome Browser

Description: transcription factor AP-2 alpha, transcript variant 1 (from RefSeq NM_001372066.1)
Gencode Transcript: ENST00000379613.10_11
Gencode Gene: ENSG00000137203.15_17
Transcript (Including UTRs)
Position: hg19 chr6:10,396,910-10,415,307 Size: 18,398 Total Exon Count: 7 Strand: -
Coding Region
Position: hg19 chr6:10,398,650-10,415,224 Size: 16,575 Coding Exon Count: 7

Page Index	Sequence and Links	Primers	MalaCards	CTD	Gene Alleles
RNA-Seq Expression	Microarray Expression	RNA Structure	Other Species	mRNA Descriptions	Other Names
GeneReviews	Model Information	Methods

Data last updated at UCSC: 2024-08-22 23:36:26

Sequence and Links to Tools and Databases

Genomic Sequence (chr6:10,396,910-10,415,307)			mRNA (may differ from genome)		Protein (439 aa)
Gene Sorter	Genome Browser	Other Species FASTA	VisiGene	Gene interactions	Table Schema
AlphaFold	BioGPS	Ensembl	Entrez Gene	ExonPrimer	GeneCards
HGNC	Malacards	MGI	OMIM	PubMed	UniProtKB
Wikipedia	BioGrid CRISPR DB

Primer design for this transcript

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3

MalaCards Disease Associations


	MalaCards Gene Search: TFAP2A Diseases sorted by gene-association score: branchiooculofacial syndrome* (1699), ectopic thymus (17), enophthalmos (17), thymus gland disease (16), char syndrome (12), orbital disease (11), cleft lip (8), exencephaly (7), lacrimal duct obstruction (6), popliteal pterygium syndrome 1 (5), choriocarcinoma (4), melanoma (3), hereditary hemorrhagic telangiectasia (2) * = Manually curated disease association

Comparative Toxicogenomics Database (CTD)


	The following chemicals interact with this gene D013749 Tetrachlorodibenzodioxin D014212 Tretinoin C495626 14-deoxy-11,12-didehydroandrographolide C019273 2,2-bis(4-glycidyloxyphenyl)propane D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide D001564 Benzo(a)pyrene D002220 Carbamazepine D016190 Carboplatin D002794 Choline D002945 Cisplatin more ... click here to view the complete list

Common Gene Haplotype Alleles


	Press "+" in the title bar above to open this section.

RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)


	Highest median expression: 23.89 RPKM in Skin - Not Sun Exposed (Suprapubic) Total median expression: 92.90 RPKM View in GTEx track of Genome Browser View at GTEx portal View GTEx Body Map

Microarray Expression Data


	Press "+" in the title bar above to open this section.

mRNA Secondary Structure of 3' and 5' UTRs

Region	Fold Energy	Bases	Energy/Base	Display As
5' UTR	-24.00	83	-0.289	Picture	PostScript	Text
3' UTR	-384.80	1740	-0.221	Picture	PostScript	Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

Orthologous Genes in Other Species

Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.

Mouse	Rat	Zebrafish	D. melanogaster	C. elegans	S. cerevisiae
No ortholog	No ortholog	No ortholog	No ortholog	No ortholog	No ortholog
Gene Details	Gene Details
Gene Sorter	Gene Sorter
	RGD

Descriptions from all associated GenBank mRNAs


	JD023294 - Sequence 4318 from Patent EP1572962. JD030799 - Sequence 11823 from Patent EP1572962. BC017754 - Homo sapiens transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha), mRNA (cDNA clone MGC:22117 IMAGE:4432023), complete cds. BC071713 - Homo sapiens cDNA clone IMAGE:5105859, containing frame-shift errors. M36711 - Human sequence-specific DNA-binding protein (AP-2) mRNA, complete cds. X52611 - Human mRNA for transcription factor AP-2. JD525719 - Sequence 506743 from Patent EP1572962. JD458522 - Sequence 439546 from Patent EP1572962. JD458521 - Sequence 439545 from Patent EP1572962. JD458515 - Sequence 439539 from Patent EP1572962. JD182749 - Sequence 163773 from Patent EP1572962. JD408250 - Sequence 389274 from Patent EP1572962. JD397920 - Sequence 378944 from Patent EP1572962. JD316139 - Sequence 297163 from Patent EP1572962. KJ897656 - Synthetic construct Homo sapiens clone ccsbBroadEn_07050 TFAP2A gene, encodes complete protein. KR709611 - Synthetic construct Homo sapiens clone CCSBHm_00004070 TFAP2A (TFAP2A) mRNA, encodes complete protein. KR709612 - Synthetic construct Homo sapiens clone CCSBHm_00004071 TFAP2A (TFAP2A) mRNA, encodes complete protein. KR709613 - Synthetic construct Homo sapiens clone CCSBHm_00004072 TFAP2A (TFAP2A) mRNA, encodes complete protein. DQ891099 - Synthetic construct clone IMAGE:100003729; FLH169329.01X; RZPDo839B0196D transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) (TFAP2A) gene, encodes complete protein. DQ894281 - Synthetic construct Homo sapiens clone IMAGE:100008741; FLH169325.01L; RZPDo839B0195D transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) (TFAP2A) gene, encodes complete protein. AB587456 - Synthetic construct DNA, clone: pF1KB7985, Homo sapiens TFAP2A gene for transcription factor AP-2 alpha, without stop codon, in Flexi system. FJ794945 - Homo sapiens transcription factor AP-2 alpha mRNA, complete cds, alternatively spliced. M61156 - Human activator protein 2B (AP-2B) mRNA, complete cds. AK296737 - Homo sapiens cDNA FLJ51761 complete cds. LF209762 - JP 2014500723-A/17265: Polycomb-Associated Non-Coding RNAs. LF212523 - JP 2014500723-A/20026: Polycomb-Associated Non-Coding RNAs. LF213317 - JP 2014500723-A/20820: Polycomb-Associated Non-Coding RNAs. MA445339 - JP 2018138019-A/17265: Polycomb-Associated Non-Coding RNAs. MA448100 - JP 2018138019-A/20026: Polycomb-Associated Non-Coding RNAs. MA448894 - JP 2018138019-A/20820: Polycomb-Associated Non-Coding RNAs.

Other Names for This Gene


	Alternate Gene Symbols: A0A6E1XE14, A0A6E1XE14_HUMAN, ENST00000379613.1, ENST00000379613.2, ENST00000379613.3, ENST00000379613.4, ENST00000379613.5, ENST00000379613.6, ENST00000379613.7, ENST00000379613.8, ENST00000379613.9, hCG_37170 , NM_001372066, TFAP2A , uc318pbv.1, uc318pbv.2 UCSC ID: ENST00000379613.10_11 RefSeq Accession: NM_001372066.1

GeneReviews for This Gene


	GeneReviews article(s) related to gene TFAP2A: bofs (Branchiooculofacial Syndrome)

Gene Model Information


	Click here for a detailed description of the fields of the table above.

Methods, Credits, and Use Restrictions


	Click here for details on how this gene model was made and data restrictions if any.