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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
  • Alliance
    genome feature page
  • Transcription Start Sites
    18 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:19279138-19308800 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 1, 6.19 cM, cytoband A2-A4
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    560 from dbSNP Build 142
  • Strain Annotations
    19
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_104672
 protein coding gene Chr1:19279132-19309071 (+)
129S1/SvImJ ENSMUSG00200018504
 protein coding gene Chr1:16682136-16711842 (+)
A/J ENSMUSG00195027436
 protein coding gene Chr1:16461231-16490895 (+)
AKR/J ENSMUSG00220007910
 protein coding gene Chr1:16491784-16521413 (+)
BALB/cJ ENSMUSG00180023781
 protein coding gene Chr1:16527537-16557191 (+)
C3H/HeJ ENSMUSG00175000069
 protein coding gene Chr1:16453490-16483150 (+)
C57BL/6NJ ENSMUSG00215009010
 protein coding gene Chr1:16512085-16541760 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0013980
 protein coding gene Chr1:14900026-14929312 (+)
CAST/EiJ ENSTCUG00005021544
 protein coding gene Chr1:16836460-16866285 (+)
CBA/J ENSMUSG00210002704
 protein coding gene Chr1:16330638-16360279 (+)
DBA/2J ENSMUSG00185003870
 protein coding gene Chr1:17363989-17393682 (+)
FVB/NJ ENSMUSG00205014679
 protein coding gene Chr1:16577568-16607246 (+)
JF1/MsJ ENSUMUG00000014527
 protein coding gene Chr1:16626663-16656469 (+)
LP/J ENSMUSG00230018550
 protein coding gene Chr1:17377317-17407021 (+)
NOD/ShiLtJ ENSMUSG00190025116
 protein coding gene Chr1:16440068-16469730 (+)
NZO/HlLtJ ENSMUSG00225005167
 protein coding gene Chr1:20743490-20773171 (+)
PWK/PhJ ENSLUMG00010021766
 protein coding gene Chr1:16248437-16278155 (+)
SPRET/EiJ ENSMSPG00010025501
 protein coding gene Chr1:17056079-17085596 (+)
WSB/EiJ ENSIUOG00005011539
 protein coding gene Chr1:16407523-16437136 (+)



Homology
more
  • Human Ortholog
    TFAP2B, transcription factor AP-2 beta
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    TFAP2B, transcription factor AP-2 beta
  • Synonyms
    AP2-B, AP-2B, AP-2beta, PDA2
  • Links
    NCBI Gene ID: 7021
    UniProt: Q92481

  • Chr Location
    6p12.3; chr6:50818355-50847619 (+)  GRCh38
Human Diseases
more
  • Diseases
    3 with Tfap2b mouse models; 2 with human TFAP2B associations

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

  • Mutations/Alleles
    3 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    69 phenotypes from 6 alleles in 9 genetic backgrounds
    2 images
    40 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.
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. Heterozygosity for KO or specific intronic (splice) mutations affects sleep patterns.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    86
  • GO References
    19
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
    1394
  • Tissues
    461
  • cDNA Data
    67
  • Literature Summary
    112
  • Comparison Matrix
    Gene Expression + Phenotype
    • 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 90
      Genomic 2
      cDNA 70
      Primer pair 11
      Other 7
      Antibodies 11

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-27035, MGI:2138300
    References
    more
    • Summaries
      All 187
      Developmental Gene Expression 112
      Diseases 3
      Gene Ontology 19
      Phenotypes 40
    • 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:391384 Ishimoto Y, et al., Deletion of ARPKD-associated Pkhd1 gene in mice results in decreased Tfap2b expression and eye abnormalities. Nat Commun. 2026 Jul 23;17(1)
    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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    09/08/2026
    MGI 6.24     		The Jackson Laboratory