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Magi2 Gene Detail
Summary
  • Symbol
    Magi2
  • Name
    membrane associated guanylate kinase, WW and PDZ domain containing 2
  • Synonyms
    Acvrinp1, Magi-2, mKIAA0705, S-SCAM
  • Feature Type
    protein coding gene
  • IDs
    MGI:1354953
    NCBI Gene: 50791
  • Alliance
    gene page
  • Transcription Start Sites
    16 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:19432034-20909790 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 5, 8.60 cM, cytoband A3
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    43008 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1354953
 protein coding gene Chr5:19431787-20909790 (+)
129S1/SvImJ MGP_129S1SvImJ_G0029309
 protein coding gene Chr5:16674701-18218916 (+)
A/J MGP_AJ_G0029274
 protein coding gene Chr5:16143726-17646528 (+)
AKR/J MGP_AKRJ_G0029225
 protein coding gene Chr5:16812637-18326093 (+)
BALB/cJ MGP_BALBcJ_G0029286
 protein coding gene Chr5:16597521-18078887 (+)
C3H/HeJ MGP_C3HHeJ_G0029005
 protein coding gene Chr5:16827828-18348049 (+)
C57BL/6NJ MGP_C57BL6NJ_G0029739
 protein coding gene Chr5:18031895-19580415 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0026978
 protein coding gene Chr5:14325771-15728668 (+)
CAST/EiJ MGP_CASTEiJ_G0028417
 protein coding gene Chr5:16172699-17702515 (+)
CBA/J MGP_CBAJ_G0028972
 protein coding gene Chr5:18130597-19776412 (+)
DBA/2J MGP_DBA2J_G0029124
 protein coding gene Chr5:16456985-17925144 (+)
FVB/NJ MGP_FVBNJ_G0029082
 protein coding gene Chr5:15879097-17334730 (+)
LP/J MGP_LPJ_G0029208
 protein coding gene Chr5:17099744-18637962 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0029110
 protein coding gene Chr5:19333817-21120289 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0029772
 protein coding gene Chr5:16479797-17975706 (+)
PWK/PhJ MGP_PWKPhJ_G0028140
 protein coding gene Chr5:15516080-16994563 (+)
SPRET/EiJ MGP_SPRETEiJ_G0027973
 protein coding gene Chr5:15814252-17349711 (+)
WSB/EiJ MGP_WSBEiJ_G0028497
 protein coding gene Chr5:16495542-18021520 (+)



Homology
more
  • Human Ortholog
    MAGI2, membrane associated guanylate kinase, WW and PDZ domain containing 2
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    MAGI2, membrane associated guanylate kinase, WW and PDZ domain containing 2
  • Synonyms
    ACVRIP1, AIP-1, AIP1, ARIP1, MAGI-2, NPHS15, SSCAM
  • Links
    NCBI Gene ID: 9863
    neXtProt AC: NX_Q86UL8
    UniProt: Q86UL8

  • Chr Location
    7q21.11; chr7:78017055-79453667 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Magi2 mouse models; 1 with human MAGI2 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    47 phenotypes from 4 alleles in 6 genetic backgrounds
    3 images
    19 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 a null allele show neonatal death and hippocampal neurons with altered dendritic spine morphology. Homozygotes for a different null allele die neonatally due to anuria and podocyte anomalies. Mice lacking all three isoforms develop proteinuria, podocytopathy and die of renal failure.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    84
  • GO References
    14
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
    791
  • Tissues
    71
  • cDNA Data
    10
  • Literature Summary
    11
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000040003 Ensembl Gene Model | MGI Sequence Detail 1477757 C57BL/6J ±  kb
    transcript ENSMUST00000197354 Ensembl | MGI Sequence Detail 4785 Not Applicable  
    polypeptide ENSMUSP00000142576 Ensembl | MGI Sequence Detail 1414 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 15
      cDNA 11
      Primer pair 2
      Other 2

      Microarray probesets 4
    References
    more
    • Summaries
      All 68
      Developmental Gene Expression 11
      Diseases 2
      Gene Ontology 14
      Phenotypes 19
    • Earliest
      J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
    • Latest
      J:344013 Kearney G, et al., S-SCAM inhibits Axin-dependent synaptic function of GSK3beta in a sex-dependent manner. Sci Rep. 2022 Mar 8;12(1):4090
    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
    11/19/2024
    MGI 6.24     		The Jackson Laboratory