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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
    gene 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
    18
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 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
    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
    neXtProt AC: NX_Q92481
    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
    34 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
    68
  • GO References
    16
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
    1474
  • Tissues
    448
  • cDNA Data
    65
  • Literature Summary
    103
  • 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 88
      Genomic 2
      cDNA 68
      Primer pair 11
      Other 7

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-27035, MGI:2138300
    References
    more
    • Summaries
      All 166
      Developmental Gene Expression 103
      Diseases 3
      Gene Ontology 16
      Phenotypes 34
    • 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:355654 Cai S, et al., Single-cell transcriptome and chromatin accessibility mapping of upper lip and primary palate fusion. J Cell Mol Med. 2024 Oct;28(19):e70128
    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
    11/12/2024
    MGI 6.24     		The Jackson Laboratory