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Synj2 Gene Detail
Summary
  • Symbol
    Synj2
  • Name
    synaptojanin 2
  • Synonyms
    mKIAA0348, SJ2
  • Feature Type
    protein coding gene
  • IDs
    MGI:1201671
    NCBI Gene: 20975
  • Alliance
    gene page
  • Transcription Start Sites
    10 TSS
Location &
Maps
more
  • Sequence Map
    Chr17:5991555-6094565 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 17, 3.59 cM, cytoband A2-A3.1
  • Mapping Data
    6 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2772 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1201671
 protein coding gene Chr17:5991555-6106041 (+)
129S1/SvImJ MGP_129S1SvImJ_G0023108
 protein coding gene Chr17:3093790-3204040 (+)
A/J MGP_AJ_G0023078
 protein coding gene Chr17:3027338-3130696 (+)
AKR/J MGP_AKRJ_G0023044
 protein coding gene Chr17:3093665-3204102 (+)
BALB/cJ MGP_BALBcJ_G0023081
 protein coding gene Chr17:2997566-3100463 (+)
C3H/HeJ MGP_C3HHeJ_G0022841
 protein coding gene Chr17:3133710-3241754 (+)
C57BL/6NJ MGP_C57BL6NJ_G0023526
 protein coding gene Chr17:3256059-3366642 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0021026
 protein coding gene Chr17:2814719-2912409 (+)
CAST/EiJ MGP_CASTEiJ_G0022359
 protein coding gene Chr17:3130349-3239841 (+)
CBA/J MGP_CBAJ_G0022808
 protein coding gene Chr17:3424272-3540354 (+)
DBA/2J MGP_DBA2J_G0022943
 protein coding gene Chr17:2883777-2988180 (+)
FVB/NJ MGP_FVBNJ_G0022916
 protein coding gene Chr17:2919073-3021809 (+)
LP/J MGP_LPJ_G0023011
 protein coding gene Chr17:3234623-3344328 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0022937
 protein coding gene Chr17:3242073-3354836 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0023545
 protein coding gene Chr17:3122540-3231881 (+)
PWK/PhJ MGP_PWKPhJ_G0022103
 protein coding gene Chr17:2956221-3059245 (+)
SPRET/EiJ MGP_SPRETEiJ_G0021931
 protein coding gene Chr17:3063640-3173344 (+)
WSB/EiJ MGP_WSBEiJ_G0022409
 protein coding gene Chr17:3084174-3202375 (+)



Homology
more
  • Human Ortholog
    SYNJ2, synaptojanin 2
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SYNJ2, synaptojanin 2
  • Synonyms
    INPP5H
  • Links
    NCBI Gene ID: 8871
    neXtProt AC: NX_O15056
    UniProt: O15056

  • Chr Location
    6q25.3; chr6:157981296-158099176 (+)  GRCh38
Human Diseases
less
  • References
    6 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    13 phenotypes from 2 alleles in 4 genetic backgrounds
    2 images
    361 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.
Homozygotes for an ENU-induced allele show progressive hearing loss and cochlear hair cell degeneration associated with fusion of stereocilia followed by total loss of hair bundles and cochlear ganglion degeneration. No vestibular dysfunction or other behavioral deficits are observed.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    28
  • GO References
    7
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
    883
  • Tissues
    129
  • cDNA Data
    52
  • Literature Summary
    5
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000023805 Ensembl Gene Model | MGI Sequence Detail 103011 C57BL/6J ±  kb
    transcript ENSMUST00000115791 Ensembl | MGI Sequence Detail 5664 Not Applicable  
    polypeptide ENSMUSP00000111457 Ensembl | MGI Sequence Detail 1479 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 59
      Genomic 1
      cDNA 54
      Primer pair 2
      Other 2

      Microarray probesets 8
    Other
    Accession IDs
    less
    MGI:2146882
    References
    more
    • Summaries
      All 397
      Developmental Gene Expression 5
      Diseases 6
      Gene Ontology 7
      Phenotypes 361
    • Earliest
      J:30229 Davisson MT, et al., Segmental trisomy as a mouse model for Down syndrome. Prog Clin Biol Res. 1993;384:117-33
    • Latest
      J:354984 Emili M, et al., Reversal of neurodevelopmental impairment and cognitive enhancement by pharmacological intervention with the polyphenol polydatin in a Down syndrome model. Neuropharmacology. 2024 Sep 27;261:110170
    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
    11/12/2024
    MGI 6.24     		The Jackson Laboratory