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Shank2 Gene Detail
Summary
  • Symbol
    Shank2
  • Name
    SH3 and multiple ankyrin repeat domains 2
  • Synonyms
    ProSAP1
  • Feature Type
    protein coding gene
  • IDs
    MGI:2671987
    NCBI Gene: 210274
  • Gene Overview
    MyGene.info: SHANK2
  • Alliance
  • Transcription Start Sites
    11 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:144001928-144424494 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 7, 88.45 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    4579 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2671987
protein coding gene Chr7:143978053-144424494 (.)
129S1/SvImJ MGP_129S1SvImJ_G0033286
protein coding gene Chr7:149317133-149780480 (+)
A/J MGP_AJ_G0033269
protein coding gene Chr7:144975971-145430220 (+)
AKR/J MGP_AKRJ_G0033200
protein coding gene Chr7:149092066-149528462 (+)
BALB/cJ MGP_BALBcJ_G0033269
protein coding gene Chr7:144791454-145213069 (+)
C3H/HeJ MGP_C3HHeJ_G0032983
protein coding gene Chr7:148861292-149292357 (+)
C57BL/6NJ MGP_C57BL6NJ_G0033779
protein coding gene Chr7:154744747-155189274 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0030752
protein coding gene Chr7:146132529-146585478 (+)
CAST/EiJ MGP_CASTEiJ_G0032306
protein coding gene Chr7:141127772-141593311 (+)
CBA/J MGP_CBAJ_G0032956
protein coding gene Chr7:160004080-160483783 (+)
DBA/2J MGP_DBA2J_G0033110
protein coding gene Chr7:142982526-143408707 (+)
FVB/NJ MGP_FVBNJ_G0033058
protein coding gene Chr7:142921671-143345983 (+)
LP/J MGP_LPJ_G0033202
protein coding gene Chr7:150888887-151309721 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0033092
protein coding gene Chr7:160559363-161026521 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0033797
protein coding gene Chr7:148025474-148487382 (+)
PWK/PhJ MGP_PWKPhJ_G0032016
protein coding gene Chr7:136260316-136714692 (+)
SPRET/EiJ MGP_SPRETEiJ_G0031860
protein coding gene Chr7:134842773-135274107 (+)
WSB/EiJ MGP_WSBEiJ_G0032419
protein coding gene Chr7:149010954-149472278 (+)



Homology
more
  • Human Ortholog
    SHANK2, SH3 and multiple ankyrin repeat domains 2
  • Vertebrate Orthologs
    9
  • Human Ortholog
    SHANK2, SH3 and multiple ankyrin repeat domains 2
    Orthology source: HGNC, HomoloGene
  • Synonyms
    AUTS17, CORTBP1, CTTNBP1, ProSAP1, SHANK, SPANK-3
  • Links
    NCBI Gene ID: 22941
    neXtProt AC: NX_Q9UPX8
    UniProt: Q9UPX8

  • Chr Location
    11q13.3-q13.4; chr11:70467856-71252724 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Shank2 mouse models; 1 with human SHANK2 associations

Human Disease Mouse Models
      
IDs
View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    32 phenotypes from 3 alleles in 3 genetic backgrounds
    17 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 homozygous for null mutations display hyperactivity and abnormal social behavior. Mice homozygous for one null allele also display partial postnal lethality and limb grasping.
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 population 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 ENSMUSG00000037541 Ensembl Gene Model | MGI Sequence Detail 422567 C57BL/6J ±  kb
    transcript ENSMUST00000105902 Ensembl | MGI Sequence Detail 8988 Not Applicable  
    polypeptide ENSMUSP00000101522 Ensembl | MGI Sequence Detail 1841 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 12
      cDNA 11
      Primer pair 1

      Microarray probesets 3
    References
    more
    • Summaries
      All 49
      Developmental Gene Expression 5
      Diseases 3
      Gene Ontology 13
      Phenotypes 17
    • Earliest
      J:86696 Zambrowicz BP, et al., Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. Proc Natl Acad Sci U S A. 2003 Nov 25;100(24):14109-14
    • Latest
      J:266739 Wegener S, et al., Defective Synapse Maturation and Enhanced Synaptic Plasticity in Shank2 Deltaex7(-/-) Mice. eNeuro. 2018 May-Jun;5(3)

    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
    12/04/2018
    MGI 6.13
    The Jackson Laboratory