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Tfap2a Gene Detail
Summary
  • Symbol
    Tfap2a
  • Name
    transcription factor AP-2, alpha
  • Synonyms
    Ap2, Ap-2 (a), AP-2 alpha, AP2alpha, Ap2tf, Tcfap2a
  • Feature Type
    protein coding gene
  • IDs
    MGI:104671
    NCBI Gene: 21418
  • Alliance
    gene page
  • Transcription Start Sites
    19 TSS
Location &
Maps
more
  • Sequence Map
    Chr13:40868778-40891852 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 13, 20.01 cM, cytoband A5-B1
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    366 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_104671
 protein coding gene Chr13:40867278-40891852 (-)
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
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    TFAP2A, transcription factor AP-2 alpha
  • Synonyms
    AP-2, AP-2alpha, AP2TF, BOFS, TFAP2
  • Links
    NCBI Gene ID: 7020
    neXtProt AC: NX_P05549
    UniProt: P05549

  • Chr Location
    6p24.3; chr6:10393186-10419659 (-)  GRCh38
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
    135 phenotypes from 8 alleles in 8 genetic backgrounds
    59 phenotypes from multigenic genotypes
    4 images
    82 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.
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
    120
  • GO References
    33
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    1752
  • Tissues
    479
  • cDNA Data
    41
  • Literature Summary
    312
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000021359 Ensembl Gene Model | MGI Sequence Detail 23075 C57BL/6J ±  kb
    transcript ENSMUST00000225180 Ensembl | MGI Sequence Detail 1828 Not Applicable  
    polypeptide ENSMUSP00000153271 Ensembl | MGI Sequence Detail 466 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 100
      Genomic 3
      cDNA 50
      Primer pair 34
      Other 13

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-1346, MGD-MRK-27034
    References
    more
    • Summaries
      All 412
      Developmental Gene Expression 312
      Diseases 1
      Gene Ontology 33
      Phenotypes 82
    • Earliest
      J:182573 Roderick TH, Producing and detecting paracentric chromosomal inversions in mice. Mutat Res. 1971 Jan;11(1):59-69
    • Latest
      J:355461 Deng Z, et al., Single-cell transcriptomics reveals the cellular identity of a novel progenitor population crucial for murine neural tube closure. Heliyon. 2024 Sep 15;10(17):e37259
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory