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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
    genome feature 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
    1255 from dbSNP Build 142
  • Strain Annotations
    38
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 ENSMUSGG00200054699
 protein coding gene Chr15:86560290-86580341 (+)
129S1/SvImJ ENSMUSGG00200054700
 protein coding gene Chr15:86593250-86596808 (+)
129S1/SvImJ ENSMUSG00200034851
 protein coding gene Chr15:86539659-86539960 (+)
A/J ENSMUSGG00195055142
 protein coding gene Chr15:86514862-86518421 (+)
A/J ENSMUSGG00195055030
 protein coding gene Chr15:86481921-86501980 (+)
A/J ENSMUSG00195019908
 protein coding gene Chr15:86461275-86461576 (+)
AKR/J ENSMUSG00220029818
 protein coding gene Chr15:86491957-86492258 (+)
AKR/J ENSMUSGG00220054859
 protein coding gene Chr15:86512592-86532639 (+)
AKR/J ENSMUSGG00220054605
 protein coding gene Chr15:86545543-86549101 (+)
BALB/cJ ENSMUSGG00180055005
 protein coding gene Chr15:86335759-86355612 (+)
BALB/cJ ENSMUSG00180014229
 protein coding gene Chr15:86315112-86315413 (+)
BALB/cJ ENSMUSGG00180055003
 protein coding gene Chr15:86368519-86372078 (+)
C3H/HeJ ENSMUSGG00175055023
 protein coding gene Chr15:86701469-86705028 (+)
C3H/HeJ ENSMUSG00175025752
 protein coding gene Chr15:86647888-86648189 (+)
C3H/HeJ ENSMUSGG00175054968
 protein coding gene Chr15:86668530-86688587 (+)
C57BL/6NJ ENSMUSGG00215055442
 protein coding gene Chr15:86429230-86449288 (+)
C57BL/6NJ ENSMUSGG00215055724
 protein coding gene Chr15:86462172-86465731 (+)
C57BL/6NJ ENSMUSG00215026852
 protein coding gene Chr15:86408586-86408887 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0020174
 protein coding gene Chr15:83452397-83512977 (+)
CAST/EiJ no annotation
CBA/J ENSMUSGG00210054527
 protein coding gene Chr15:86437961-86458016 (+)
CBA/J ENSMUSGG00210054531
 protein coding gene Chr15:86470898-86474457 (+)
CBA/J ENSMUSG00210013027
 protein coding gene Chr15:86417320-86417621 (+)
DBA/2J ENSMUSGG00185057915
 protein coding gene Chr15:86482899-86486456 (+)
DBA/2J ENSMUSG00185021430
 protein coding gene Chr15:86429278-86429579 (+)
DBA/2J ENSMUSGG00185057647
 protein coding gene Chr15:86449930-86470004 (+)
FVB/NJ ENSMUSGG00205054467
 protein coding gene Chr15:86210732-86230779 (+)
FVB/NJ ENSMUSGG00205054468
 protein coding gene Chr15:86243680-86247238 (+)
FVB/NJ ENSMUSG00205020518
 protein coding gene Chr15:86190101-86190402 (+)
JF1/MsJ no annotation
LP/J ENSMUSGG00230055528
 protein coding gene Chr15:89833419-89836977 (+)
LP/J ENSMUSG00230039999
 protein coding gene Chr15:89779831-89780132 (+)
LP/J ENSMUSGG00230055530
 protein coding gene Chr15:89800462-89820514 (+)
NOD/ShiLtJ ENSMUSGG00190054807
 protein coding gene Chr15:86487285-86490844 (+)
NOD/ShiLtJ ENSMUSG00190021197
 protein coding gene Chr15:86433706-86434007 (+)
NOD/ShiLtJ ENSMUSGG00190054930
 protein coding gene Chr15:86454345-86474403 (+)
NZO/HlLtJ ENSMUSGG00225055281
 protein coding gene Chr15:90150020-90153578 (+)
NZO/HlLtJ ENSMUSG00225049949
 protein coding gene Chr15:90096442-90096743 (+)
NZO/HlLtJ ENSMUSGG00225055280
 protein coding gene Chr15:90117072-90137119 (+)
PWK/PhJ no annotation
SPRET/EiJ no annotation
WSB/EiJ no annotation



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
    130 phenotypes from 18 alleles in 22 genetic backgrounds
    218 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
    128
  • GO References
    27
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
    726
  • Tissues
    35
  • cDNA Data
    18
  • Literature Summary
    15
  • 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
      Antibodies 6

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:2146068
    References
    more
    • Summaries
      All 301
      Developmental Gene Expression 15
      Diseases 13
      Gene Ontology 27
      Phenotypes 218
    • 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:391825 Matoba K, et al., Circulating extracellular vesicle microRNAs mediate immune modulation of social behavior in male mice. Nat Commun. 2026 Apr 3;17(1)
    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
    09/01/2026
    MGI 6.24     		The Jackson Laboratory