About   Help   FAQ
Tfap2b Gene Detail
Summary
  • Symbol
    Tfap2b
  • Name
    transcription factor AP-2 beta
  • Synonyms
    AP-2(beta), E130018K07Rik, Tcfap2b
  • Feature Type
    protein coding gene
  • IDs
    MGI:104672
    NCBI Gene: 21419
  • Gene Overview
    MyGene.info: TFAP2B
  • Alliance
  • Transcription Start Sites
    15 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:19208914-19238576 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 1, 6.19 cM, cytoband A2-A4
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    117 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_104672
protein coding gene Chr1:19208914-19238845 (.)
129S1/SvImJ MGP_129S1SvImJ_G0015868
protein coding gene Chr1:16820309-16852237 (+)
A/J MGP_AJ_G0015849
protein coding gene Chr1:16603986-16643140 (+)
AKR/J MGP_AKRJ_G0015808
protein coding gene Chr1:16639023-16668510 (+)
BALB/cJ MGP_BALBcJ_G0015805
protein coding gene Chr1:16284895-16316146 (+)
C3H/HeJ MGP_C3HHeJ_G0015639
protein coding gene Chr1:16685454-16716907 (+)
C57BL/6NJ MGP_C57BL6NJ_G0016259
protein coding gene Chr1:17591223-17623342 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0013980
protein coding gene Chr1:14900026-14929312 (+)
CAST/EiJ MGP_CASTEiJ_G0015220
protein coding gene Chr1:16766230-16798504 (+)
CBA/J MGP_CBAJ_G0015612
protein coding gene Chr1:17987413-18022437 (+)
DBA/2J MGP_DBA2J_G0015711
protein coding gene Chr1:16143762-16173863 (+)
FVB/NJ MGP_FVBNJ_G0015716
protein coding gene Chr1:15944560-15975173 (+)
LP/J MGP_LPJ_G0015783
protein coding gene Chr1:17028541-17059585 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0015734
protein coding gene Chr1:18924134-18959235 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0016306
protein coding gene Chr1:16621922-16653752 (+)
PWK/PhJ MGP_PWKPhJ_G0015004
protein coding gene Chr1:15916137-15946696 (+)
SPRET/EiJ MGP_SPRETEiJ_G0014785
protein coding gene Chr1:16684132-16713158 (+)
WSB/EiJ MGP_WSBEiJ_G0015283
protein coding gene Chr1:16548918-16579412 (+)



Homology
more
  • Human Ortholog
    TFAP2B, transcription factor AP-2 beta
  • Vertebrate Orthologs
    10
  • Human Ortholog
    TFAP2B, transcription factor AP-2 beta
    Orthology source: HomoloGene, HGNC
  • Synonyms
    AP-2B, AP2-B, PDA2
  • Links
    NCBI Gene ID: 7021
    neXtProt AC: NX_Q92481
    UniProt: Q92481

  • Chr Location
    6p12.3; chr6:50817692-50847619 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 20688
    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: TFAP2B
  • Gene Tree
Human Diseases
more
  • Diseases
    2 with Tfap2b mouse models; 1 with human TFAP2B associations

Human Disease Mouse Models
      
IDs
View 1 model
      
IDs
View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    51 phenotypes from 2 alleles in 4 genetic backgrounds
    2 images
    16 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.
Homozygotes have kidney cysts and show neonatal or postnatal lethality, depending on strain background. On a congenic 129P2 background, mice have tremors, polydactyly, defective tubular secretory function and ion homeostasis, hypocalcemia, hyperphosphatemia, hyperuremia, and terminal renal failure.
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 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 ENSMUSG00000025927 Ensembl Gene Model | MGI Sequence Detail 29663 C57BL/6J ±  kb
    transcript ENSMUST00000027059 Ensembl | MGI Sequence Detail 5863 Not Applicable  
    polypeptide ENSMUSP00000027059 Ensembl | MGI Sequence Detail 459 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 74
      Genomic 2
      cDNA 62
      Primer pair 6
      Other 4

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-27035, MGI:2138300
    References
    more
    • Summaries
      All 114
      Developmental Gene Expression 66
      Diseases 2
      Gene Ontology 13
      Phenotypes 16
    • Earliest
      J:30071 Mermod N, et al., Enhancer binding factors AP-4 and AP-1 act in concert to activate SV40 late transcription in vitro. Nature. 1988 Apr 7;332(6164):557-61
    • Latest
      J:263083 Jain S, et al., AP-2epsilon Expression in Developing Retina: Contributing to the Molecular Diversity of Amacrine Cells. Sci Rep. 2018 Feb 21;8(1):3386

    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
    11/13/2018
    MGI 6.13
    The Jackson Laboratory