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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
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr15:89499705-89560261 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 15, 44.96 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    194 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1930016
protein coding gene Chr15:89499623-89560261 (.)
129S1/SvImJ MGP_129S1SvImJ_G0022239
protein coding gene Chr15:90705231-90771371 (+)
A/J MGP_AJ_G0022198
protein coding gene Chr15:87233496-87294967 (+)
AKR/J MGP_AKRJ_G0022173
protein coding gene Chr15:89816394-89882569 (+)
BALB/cJ MGP_BALBcJ_G0022204
protein coding gene Chr15:87335939-87397925 (+)
C3H/HeJ MGP_C3HHeJ_G0021974
protein coding gene Chr15:89816915-89882676 (+)
C57BL/6NJ MGP_C57BL6NJ_G0022649
protein coding gene Chr15:94003434-94074916 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0020174
protein coding gene Chr15:83452397-83512977 (+)
CAST/EiJ MGP_CASTEiJ_G0021496
protein coding gene Chr15:90600542-90664168 (+)
CBA/J MGP_CBAJ_G0021941
protein coding gene Chr15:97196667-97260356 (+)
DBA/2J MGP_DBA2J_G0022068
protein coding gene Chr15:86681190-86743343 (+)
FVB/NJ MGP_FVBNJ_G0022047
protein coding gene Chr15:85754311-85815515 (+)
LP/J MGP_LPJ_G0022139
protein coding gene Chr15:90861490-90933087 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0022067
protein coding gene Chr15:101581139-101646335 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0022664
protein coding gene Chr15:89854838-89918902 (+)
PWK/PhJ MGP_PWKPhJ_G0021237
protein coding gene Chr15:86744843-86806958 (+)
SPRET/EiJ MGP_SPRETEiJ_G0021071
protein coding gene Chr15:89605656-89675149 (+)
WSB/EiJ MGP_WSBEiJ_G0021545
protein coding gene Chr15:90358214-90422706 (+)



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
less
  • 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
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 58234 NCBI Gene Model | MGI Sequence Detail 60557 C57BL/6J ±  kb
    transcript NM_021423 RefSeq | MGI Sequence Detail 7131 C57BL/6  
    polypeptide Q4ACU6 UniProt | EBI | MGI Sequence Detail 1730 Not Applicable  
    For the selected sequence
    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 17
      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
    11/06/2018
    MGI 6.13
    The Jackson Laboratory