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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
  • Alliance
    gene page
  • Transcription Start Sites
    10 TSS
Location &
Maps
more
  • Sequence Map
    Chr15:89383826-89444464 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • 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 Chr15:89376929-89444464 (+)
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
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SHANK3, SH3 and multiple ankyrin repeat domains 3
  • Synonyms
    DEL22q13.3, PROSAP2, PSAP2, SCZD15, SPANK-2
  • Links
    NCBI Gene ID: 85358
    UniProt: Q9BYB0

  • Chr Location
    22q13.33; chr22:50672823-50733212 (+)  GRCh38
Human Diseases
more
  • Diseases
    3 with Shank3 mouse models; 2 with human SHANK3 associations

Human Disease Mouse Models
      
IDs
 View 4 models
      
IDs
 View 13 models
IDs
 View 1 model
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    12 with disease annotations
  • References
    13 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    127 phenotypes from 18 alleles in 22 genetic backgrounds
    166 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 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. Knockout also affects behavior in response to physical and virtual novel objects.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    111
  • GO References
    26
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
non-membrane-bounded 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
    835
  • Tissues
    35
  • cDNA Data
    18
  • Literature Summary
    13
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000022623 Ensembl Gene Model | MGI Sequence Detail 60639 C57BL/6J ±  kb
    transcript ENSMUST00000109309 Ensembl | MGI Sequence Detail 7365 Not Applicable  
    polypeptide ENSMUSP00000104932 Ensembl | MGI Sequence Detail 1730 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 22
      cDNA 19
      Primer pair 3

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:2146068
    References
    more
    • Summaries
      All 231
      Developmental Gene Expression 13
      Diseases 13
      Gene Ontology 26
      Phenotypes 166
    • 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:344447 Tripathi MK, et al., Mutations associated with autism lead to similar synaptic and behavioral alterations in both sexes of male and female mouse brain. Sci Rep. 2024 Jan 4;14(1):10
    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
    04/16/2024
    MGI 6.23     		The Jackson Laboratory