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Aebp2 Gene Detail
Summary
  • Symbol
    Aebp2
  • Name
    AE binding protein 2
  • Synonyms
    B230313N05Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1338038
    NCBI Gene: 11569
  • Alliance
    gene page
  • Transcription Start Sites
    13 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:140567480-140624198 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 6, 70.71 cM, cytoband G1
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1679 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1338038
 protein coding gene Chr6:140546644-140713010 (+)
129S1/SvImJ MGP_129S1SvImJ_G0031449
 protein coding gene Chr6:145353414-145416075 (+)
A/J MGP_AJ_G0031424
 protein coding gene Chr6:139572400-139629896 (+)
AKR/J MGP_AKRJ_G0031352
 protein coding gene Chr6:143759129-143815036 (+)
BALB/cJ MGP_BALBcJ_G0031431
 protein coding gene Chr6:139423262-139481856 (+)
C3H/HeJ MGP_C3HHeJ_G0031153
 protein coding gene Chr6:143837971-143894370 (+)
C57BL/6NJ MGP_C57BL6NJ_G0031893
 protein coding gene Chr6:149296930-149371654 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0029023
 protein coding gene Chr6:138487091-138544121 (+)
CAST/EiJ MGP_CASTEiJ_G0030521
 protein coding gene Chr6:143390554-143448126 (+)
CBA/J MGP_CBAJ_G0031113
 protein coding gene Chr6:154991614-155057476 (+)
DBA/2J MGP_DBA2J_G0031270
 protein coding gene Chr6:138443476-138499701 (+)
FVB/NJ MGP_FVBNJ_G0031221
 protein coding gene Chr6:137231357-137288211 (+)
LP/J MGP_LPJ_G0031354
 protein coding gene Chr6:145477203-145537697 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0031261
 protein coding gene Chr6:158868737-158928628 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0031925
 protein coding gene Chr6:143599682-143660459 (+)
PWK/PhJ MGP_PWKPhJ_G0030248
 protein coding gene Chr6:136938082-136995477 (+)
SPRET/EiJ MGP_SPRETEiJ_G0030072
 protein coding gene Chr6:141822892-141883482 (+)
WSB/EiJ MGP_WSBEiJ_G0030614
 protein coding gene Chr6:144254217-144313443 (+)



Homology
more
  • Human Ortholog
    AEBP2, AE binding protein 2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    AEBP2, AE binding protein 2
  • Links
    NCBI Gene ID: 121536
    neXtProt AC: NX_Q6ZN18
    UniProt: Q6ZN18

  • Chr Location
    12p12.3; chr12:19404045-19720801 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with Aebp2 mouse models

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
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    8 phenotypes from 1 allele in 1 genetic background
    2 images
    9 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.
Mice homozygous for a mutation in this gene show complete embryonic lethality. Heterozygous mutant mice show aganglionic megacolon, hypopigmentation of the tail tip and hind toes, and a decreased startle reflex.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    13
  • GO References
    7
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
    779
  • Tissues
    35
  • cDNA Data
    23
  • Literature Summary
    8
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 11569 NCBI Gene Model | MGI Sequence Detail 56719 C57BL/6J ±  kb
    transcript NM_001005605 RefSeq | MGI Sequence Detail 6355 C57BL/6  
    polypeptide Q9Z248 UniProt | EBI | MGI Sequence Detail 504 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 25
      cDNA 23
      Primer pair 1
      Other 1

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGI:2141575, MGI:2443066
    References
    more
    • Summaries
      All 47
      Developmental Gene Expression 8
      Diseases 1
      Gene Ontology 7
      Phenotypes 9
    • Earliest
      J:55019 He GP, et al., Cloning and characterization of a novel zinc finger transcriptional repressor. A direct role of the zinc finger motif in repression. J Biol Chem. 1999 May 21;274(21):14678-84
    • Latest
      J:313619 Bedogni F, et al., Cell-Type-Specific Gene Expression in Developing Mouse Neocortex: Intermediate Progenitors Implicated in Axon Development. Front Mol Neurosci. 2021;14:686034
    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
    12/10/2024
    MGI 6.24     		The Jackson Laboratory