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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
  • Alliance
  • Transcription Start Sites
    13 TSS
Location &
Maps
more
  • Sequence Map
    Chr13:40715302-40738237 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 13, 20.01 cM, cytoband A5-B1
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    52 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_104671
protein coding gene Chr13:40715302-40738376 (-)
129S1/SvImJ MGP_129S1SvImJ_G0020479
protein coding gene Chr13:39173804-39196795 (-)
A/J MGP_AJ_G0020433
protein coding gene Chr13:37869611-37887600 (-)
AKR/J MGP_AKRJ_G0020411
protein coding gene Chr13:38897573-38915615 (-)
BALB/cJ MGP_BALBcJ_G0020429
protein coding gene Chr13:38057207-38075404 (-)
C3H/HeJ MGP_C3HHeJ_G0020228
protein coding gene Chr13:38773207-38792066 (-)
C57BL/6NJ MGP_C57BL6NJ_G0020862
protein coding gene Chr13:40422848-40447210 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0018449
protein coding gene Chr13:36020649-36038437 (-)
CAST/EiJ MGP_CASTEiJ_G0019743
protein coding gene Chr13:38540335-38565066 (-)
CBA/J MGP_CBAJ_G0020189
protein coding gene Chr13:42131326-42154178 (-)
DBA/2J MGP_DBA2J_G0020311
protein coding gene Chr13:37423884-37458633 (-)
FVB/NJ MGP_FVBNJ_G0020290
protein coding gene Chr13:36936651-36955581 (-)
LP/J MGP_LPJ_G0020386
protein coding gene Chr13:39408516-39429584 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0020319
protein coding gene Chr13:42122626-42143139 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0020905
protein coding gene Chr13:38537540-38559933 (-)
PWK/PhJ MGP_PWKPhJ_G0019498
protein coding gene Chr13:37516072-37536085 (-)
SPRET/EiJ MGP_SPRETEiJ_G0019328
protein coding gene Chr13:37169285-37193674 (-)
WSB/EiJ MGP_WSBEiJ_G0019805
protein coding gene Chr13:38855734-38874748 (-)



Homology
more
  • Human Ortholog
    TFAP2A, transcription factor AP-2 alpha
  • Vertebrate Orthologs
    10
  • Human Ortholog
    TFAP2A, transcription factor AP-2 alpha
    Orthology source: HGNC, HomoloGene
  • Synonyms
    AP-2, AP-2alpha, AP2TF, BOFS, TFAP2
  • Links
    NCBI Gene ID: 7020
    neXtProt AC: NX_P05549
    UniProt: P05549

  • Chr Location
    6p24.3; chr6:10396677-10419897 (-)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 2421
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • 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
      
IDs
View 1 model
      
IDs
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
    134 phenotypes from 8 alleles in 8 genetic backgrounds
    58 phenotypes from multigenic genotypes
    4 images
    62 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 21418 NCBI Gene Model | MGI Sequence Detail 22936 C57BL/6J ±  kb
    transcript NM_001122948 RefSeq | MGI Sequence Detail 3500 C57BL/6  
    polypeptide P34056 UniProt | EBI | MGI Sequence Detail 437 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 80
      Genomic 3
      cDNA 48
      Primer pair 28
      Other 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-1346, MGD-MRK-27034
    References
    more
    • Summaries
      All 316
      Developmental Gene Expression 229
      Diseases 1
      Gene Ontology 33
      Phenotypes 62
    • Earliest
      J:182573 Roderick TH, Producing and detecting paracentric chromosomal inversions in mice. Mutat Res. 1971 Jan;11(1):59-69
    • Latest
      J:266206 Peterson JC, et al., Nos3 mutation leads to abnormal neural crest cell and second heart field lineage patterning in bicuspid aortic valve formation. Dis Model Mech. 2018 Sep 20;

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    12/04/2018
    MGI 6.13
    The Jackson Laboratory