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Shank3 Gene Detail
Summary
  • Symbol
    Shank3
  • Name
    SH3/ankyrin domain gene 3
  • Synonyms
    ProSAP2
  • Feature Type
    protein coding gene
  • IDs
    MGI:1930016
    NCBI Gene: 58234
  • Gene Overview
    MyGene.info: SHANK3
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: HGNC, HomoloGene
  • Synonyms
    DEL22q13.3, PROSAP2, PSAP2, SCZD15, SPANK-2
  • Links
    NCBI Gene ID: 85358
    neXtProt AC: NX_Q9BYB0

  • Chr Location
    22q13.3; chr22:50674642-50733212 (+)  GRCh38.p2

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

Human Disease Mouse Models
       Autism   OMIM: 209850 View 6 models
Schizophrenia; SCZD   OMIM: 181500 View 1 model
       Phelan-Mcdermid Syndrome; PHMDS   OMIM: 606232
Schizophrenia 15; SCZD15   OMIM: 613950
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    7 with disease annotations
  • References
    10 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    65 phenotypes from 9 alleles in 10 genetic backgrounds
    39 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.
  • All Mutations and Alleles
    18
  • Chemically induced (other)
    1
  • Radiation induced
    2
  • Targeted
    15
  • Genomic Mutations
    3 involving Shank3
  • Incidental Mutations
Mice homozygous for a targeted allele that deletes isoforms alpha and beta and reduce isoform gamma exhibit over-grooming resulting in skin lesions, increased anxiety-related behavior, social withdrawal, abnormal medium spiny neuron morphology, and abnormal synpatic transmission.
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
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
Interactions
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Sequences &
Gene Models
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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 18
    cDNA 17
    Primer pair 1

    Microarray probesets 3
Other
Accession IDs
less
MGI:2146068
References
more
  • Summaries
    All 53
    Developmental Gene Expression 7
    Diseases 10
    Gene Ontology 11
    Phenotypes 39
  • Earliest
    J:80000 The FANTOM Consortium and The RIKEN Genome Exploration Research Group Phase I & II Team, Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002;420:563-573
  • Latest
    J:232023 Orefice LL, et al., Peripheral Mechanosensory Neuron Dysfunction Underlies Tactile and Behavioral Deficits in Mouse Models of ASDs. Cell. 2016 Jun 8;

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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Funding Information
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last database update
07/19/2016
MGI 6.04
The Jackson Laboratory