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Shank3 Gene Detail
Summary
  • Symbol
    Shank3
  • Name
    SH3 and multiple ankyrin repeat domains 3
  • Synonyms
    ProSAP2
  • Feature Type
    protein coding gene
  • IDs
    MGI:1930016
    NCBI Gene: 58234
  • Gene Overview
    MyGene.info: SHANK3
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr15:89499623-89560261 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      60639 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 15, 44.96 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    SHANK3, SH3 and multiple ankyrin repeat domains 3
  • Vertebrate Orthologs
    9
  • Human Ortholog
    SHANK3, SH3 and multiple ankyrin repeat domains 3
    Orthology source: HomoloGene, HGNC
  • Synonyms
    DEL22q13.3, PROSAP2, PSAP2, SCZD15, SPANK-2
  • Links
    NCBI Gene ID: 85358
    neXtProt AC: NX_Q9BYB0
    UniProt: Q9BYB0

  • Chr Location
    22q13.33; chr22:50674642-50733212 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    2 with Shank3 mouse models; 1 with human SHANK3 associations

Human Disease Mouse Models
      
IDs
View 7 models
IDs
View 1 model
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    8 with disease annotations
  • References
    8 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    91 phenotypes from 12 alleles in 14 genetic backgrounds
    58 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.
Mice carrying various deletions of exons encoding the ankyrin repeats (exons 4-9) exhibit a range of synaptic and autism-related impairments. Homozygotes lacking exon 9 show altered excitation/inhibition balance, increased rearing, and mildly impaired spatial memory.
Gene Ontology
(GO)
Classifications
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  • 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
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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
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    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000024288 VEGA Gene Model | MGI Sequence Detail 60639 C57BL/6J ±  kb
    transcript OTTMUST00000059483 VEGA | MGI Sequence Detail 7365 Not Applicable  
    polypeptide OTTMUSP00000028933 VEGA | MGI Sequence Detail 1805 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      194 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 19
      cDNA 18
      Primer pair 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:2146068
    References
    more
    • Summaries
      All 103
      Developmental Gene Expression 10
      Diseases 8
      Gene Ontology 16
      Phenotypes 58
    • Earliest
      J:7688 Lane PW, et al., Association of megacolon with a new dominant spotting gene (Dom) in the mouse. J Hered. 1984 Nov-Dec;75(6):435-9
    • Latest
      J:265246 Lautz JD, et al., Synaptic activity induces input-specific rearrangements in a targeted synaptic protein interaction network. J Neurochem. 2018 Sep;146(5):540-559

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
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    last database update
    10/09/2018
    MGI 6.12
    The Jackson Laboratory