Gene
TFAP2A
transcription factor AP-2 alpha
- HGNC 11742↗(opens in a new tab)
- Ensembl gene ENSG00000137203↗(opens in a new tab)
- NCBI Gene 7020↗(opens in a new tab)
Summary
- Cytogenetic location
- 6p24.3
- Coordinates
- Chromosome 6: 10,396,677–10,415,074 (GRCh38)
- Exons
- 7 exons across 18.4 kb
- Protein
- 439 amino acids
- Also known as
- AP-2, AP-2alpha
- Previous symbols
- TFAP2, AP2TF
- MANE Select transcript
- ENST00000379613.10NM_001372066.1
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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No Genome Test report reads TFAP2A yet. The test sequences your whole genome, so your data includes it all the same.
How TFAP2A is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 3.1 kb of the gene's 18.4 kb; 1,320 of those bases code for the protein.
How a genome test reads TFAP2A
36
positions in TFAP2A where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 18.4 kb of TFAP2A, introns included, not only the 3.1 kb of exons.
Traits linked to TFAP2A
The Human Phenotype Ontology lists these as features of the rare conditions TFAP2A can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Deep philtrum
- Drooping lower lip
- Pit above the ear
- Pit behind the ear
- Pit in front of the ear
- Blocked tear duct
- Broad nasal tip
- Decreased number of teeth
Show 25 more traits
- Decreased size of tooth
- Dimple chin
- High palate
- Long, narrow head
- Non-midline cleft of the upper lip
- Upward slanting of the opening between the eyelids
- Wide nasal bridge
- Bell's palsy
- Cleft of chin
- Cleft of the mouth
- Upper lip pit
- Abnormal dentition
- Abnormally small head
- Branchial anomaly
- Cleft palate
- Cleft upper lip
- Corners of eye widely separated
- Depressed nasal bridge
- Little lower jaw
- Low hairline at back of neck
- Lower lip pit
- Short nasal septum
- Short neck
- Small forehead
- Zygomatic flattening
Abnormality of the ear
- Abnormally shaped ears
- Conductive deafness
- Ears rotated toward back of head
- Hearing impairment
- Fusion of middle ear ossicles
- Hypoplastic superior helix
- Low-set ears
- Overfolded ears
Show 2 more traits
Abnormality of the integument
- Atypical scarring of skin
- Abnormal fingernail development
- Premature graying of hair
- Sparse hair
- Absence of part of skin at birth
- Dermoid cyst
- Skin degeneration
- Small fingernail
Show 1 more trait
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). TFAP2A gene: transcription factor AP-2 alpha. Retrieved 17 October 2026, from https://dantelabs.com/genes/tfap2a
Dante Labs. TFAP2A gene: transcription factor AP-2 alpha [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/tfap2a
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