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Ap3b2 Gene Detail
Summary
  • Symbol
    Ap3b2
  • Name
    adaptor-related protein complex 3, beta 2 subunit
  • Synonyms
    beta3B, MGC:36656, Naptb
  • Feature Type
    protein coding gene
  • IDs
    MGI:1100869
    NCBI Gene: 11775
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:81110147-81143673 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 45.71 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    945 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_1100869
 protein coding gene Chr7:81110147-81143722 (-)
129S1/SvImJ MGP_129S1SvImJ_G0032429
 protein coding gene Chr7:83520226-83557984 (-)
A/J MGP_AJ_G0032408
 protein coding gene Chr7:81544726-81578683 (-)
AKR/J MGP_AKRJ_G0032344
 protein coding gene Chr7:83351465-83384809 (-)
BALB/cJ MGP_BALBcJ_G0032420
 protein coding gene Chr7:81205447-81239005 (-)
C3H/HeJ MGP_C3HHeJ_G0032133
 protein coding gene Chr7:83966191-84000842 (-)
C57BL/6NJ MGP_C57BL6NJ_G0032912
 protein coding gene Chr7:86786241-86821787 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0029920
 protein coding gene Chr7:84021738-84055630 (-)
CAST/EiJ MGP_CASTEiJ_G0031461
 protein coding gene Chr7:74901032-74935423 (-)
CBA/J MGP_CBAJ_G0032099
 protein coding gene Chr7:89698335-89733481 (-)
DBA/2J MGP_DBA2J_G0032254
 protein coding gene Chr7:80080056-80113978 (-)
FVB/NJ MGP_FVBNJ_G0032209
 protein coding gene Chr7:80020364-80054081 (-)
LP/J MGP_LPJ_G0032335
 protein coding gene Chr7:84756130-84790902 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0032246
 protein coding gene Chr7:89761003-89796410 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0032930
 protein coding gene Chr7:82760774-82795403 (-)
PWK/PhJ MGP_PWKPhJ_G0031181
 protein coding gene Chr7:73291364-73325989 (-)
SPRET/EiJ MGP_SPRETEiJ_G0031022
 protein coding gene Chr7:69767632-69802694 (-)
WSB/EiJ MGP_WSBEiJ_G0031579
 protein coding gene Chr7:83124283-83160464 (-)



Homology
more
  • Human Ortholog
    AP3B2, adaptor related protein complex 3 subunit beta 2
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    AP3B2, adaptor related protein complex 3 subunit beta 2
  • Synonyms
    DEE48, EIEE48, NAPTB
  • Links
    NCBI Gene ID: 8120
    neXtProt AC: NX_Q13367
    UniProt: Q13367

  • Chr Location
    15q25.2; chr15:82659281-82710112 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with human AP3B2 associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    10 phenotypes from 4 alleles in 4 genetic backgrounds
    25 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.
Disruption does not alter pigmentation, but causes hyperactivity and tonic-clonic seizures and mice homozygous for a knock-out allele were found to have significantly reduced synaptic zinc levels throughout the brain, with the largest reduction observed in the CA1 stratum oriens.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    18
  • GO References
    10
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
    847
  • Tissues
    39
  • cDNA Data
    42
  • Literature Summary
    5
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000062444 Ensembl Gene Model | MGI Sequence Detail 33527 C57BL/6J ±  kb
    transcript ENSMUST00000238438 Ensembl | MGI Sequence Detail 3383 Not Applicable  
    polypeptide ENSMUSP00000158658 Ensembl | MGI Sequence Detail 1101 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      5 Sequences
    • Protein Ontology
      PR:000004105 AP-3 complex subunit beta-2
      (term hierarchy)
    • InterPro Domains
      IPR026740 AP-3 complex subunit beta
      IPR029390 AP-3 complex subunit beta, C-terminal domain
      IPR026739 AP complex subunit beta
      IPR011989 Armadillo-like helical
      IPR016024 Armadillo-type fold
      IPR013041 Clathrin adaptor, appendage, Ig-like subdomain superfamily
      IPR002553 Clathrin/coatomer adaptor, adaptin-like, N-terminal
    • GlyGen
      Q9JME5 2 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 43
      cDNA 42
      Primer pair 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:2141995, MGI:2142157
    References
    more
    • Summaries
      All 62
      Developmental Gene Expression 5
      Gene Ontology 10
      Phenotypes 25
    • Earliest
      J:88307 Giometti CS, et al., The analysis of recessive lethal mutations in mice by using two-dimensional gel electrophoresis of liver proteins. Mutat Res. 1990 Sep;242(1):47-55
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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
    11/12/2024
    MGI 6.24     		The Jackson Laboratory