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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
  • Alliance
    gene page
  • Transcription Start Sites
    25 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:143555665-143978231 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 88.45 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    10370 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 Chr7:143531819-143979780 (+)
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
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SHANK2, SH3 and multiple ankyrin repeat domains 2
  • 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; chr11:70467854-71253228 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Shank2 mouse models; 1 with human SHANK2 associations

Human Disease Mouse Models
      
IDs
 View 2 models
      
IDs
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
less
  • Phenotype Summary
    38 phenotypes from 4 alleles in 4 genetic backgrounds
    41 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 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
less
  • All GO Annotations
    52
  • GO References
    12
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
    734
  • Tissues
    10
  • cDNA Data
    12
  • Literature Summary
    9
  • Comparison Matrix
    Gene Expression + Phenotype
    • 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 16
      cDNA 12
      Primer pair 4

      Microarray probesets 3
    References
    more
    • Summaries
      All 78
      Developmental Gene Expression 9
      Diseases 3
      Gene Ontology 12
      Phenotypes 41
    • 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:353307 Ratsika A, et al., Maternal high-fat diet-induced microbiota changes are associated with alterations in embryonic brain metabolites and adolescent behaviour. Brain Behav Immun. 2024 Jul 18;121:317-330
    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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory