About   Help   FAQ
Tfap2a Gene Detail
Summary
  • Symbol
    Tfap2a
  • Name
    transcription factor AP-2, alpha
  • Synonyms
    Ap2, Ap-2 (a), AP2alpha, AP-2 alpha, Ap2tf, Tcfap2a
  • Feature Type
    protein coding gene
  • IDs
    MGI:104671
    NCBI Gene: 21418
  • Gene Overview
    MyGene.info: TFAP2A
Location & Maps
more
  • Sequence Map
    Chr13:40715675-40733823 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      18149 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 13, 20.01 cM, cytoband A5-B1
  • Mapping Data
    5 experiments
Homology
more
  • Human Ortholog
    TFAP2A, transcription factor AP-2 alpha
  • Vertebrate Orthologs
    10
  • Human Ortholog
    TFAP2A, transcription factor AP-2 alpha
    Orthology source: HomoloGene, HGNC
  • Synonyms
    AP-2, AP-2alpha, AP2TF, BOFS, TFAP2
  • Links
    NCBI Gene ID: 7020
    neXtProt AC: NX_P05549

  • Chr Location
    6p24; chr6:10396677-10419624 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 2421
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed
  • HCOP
    human homology predictions: TFAP2A
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Tfap2a mouse models; 1 with human TFAP2A associations

Human Disease Mouse Models
       Orofacial Cleft 1; OFC1   OMIM: 119530 View 1 model
       Branchiooculofacial Syndrome; BOFS   OMIM: 113620
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    130 phenotypes from 8 alleles in 8 genetic backgrounds
    36 phenotypes from multigenic genotypes
    2 images
    55 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    10
  • Chemically induced (ENU)
    1
  • Chemically induced (other)
    1
  • Targeted
    8
  • Genomic Mutations
    1 involving Tfap2a
  • Incidental Mutations
Homozygous null mutants die perinatally with anencephaly, craniofacial and neural tube defects, thoraco-abdominoschisis and defects in sensory organs, cranial ganglia, skeleton, and heart. On some genetic backgrounds, heterozygotes may exhibit exencephaly.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000021359 Ensembl Gene Model | MGI Sequence Detail 18149 C57BL/6J ±  kb
transcript ENSMUST00000110193 Ensembl | MGI Sequence Detail 2863 Not Applicable  
polypeptide ENSMUSP00000105822 Ensembl | MGI Sequence Detail 437 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    52 from dbSNP Build 142
  • RFLP
Protein
Information
less
  • UniProt
    4 Sequences
  • Protein Ontology
    PR:000016263 transcription factor AP-2-alpha
  • InterPro Domains
    IPR004979 Transcription factor AP-2
    IPR008121 Transcription factor AP-2 alpha, N-terminal
    IPR013854 Transcription factor AP-2, C-terminal
Molecular
Reagents
less
  • All nucleic 76
    Genomic 3
    cDNA 46
    Primer pair 26
    Other 1

    Microarray probesets 4
Other
Accession IDs
less
MGD-MRK-1346, MGD-MRK-27034
References
more
  • Summaries
    All 268
    Developmental Gene Expression 197
    Diseases 1
    Gene Ontology 31
    Phenotypes 55
  • Earliest
    J:15697 Mitchell PJ, et al., Transcription factor AP-2 is expressed in neural crest cell lineages during mouse embryogenesis. Genes Dev. 1991 Jan;5(1):105-19
  • Latest
    J:231312 Baardman ME, et al., Common arterial trunk and ventricular non-compaction in Lrp2 knockout mice indicate a crucial role of LRP2 in cardiac development. Dis Model Mech. 2016 Apr 1;9(4):413-25

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
09/20/2016
MGI 6.05
The Jackson Laboratory