About   Help   FAQ
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
  • Gene Overview
    MyGene.info: MAGI2
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr5:19227036-20704792 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      1477757 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 5, 8.60 cM, cytoband A3
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    MAGI2, membrane associated guanylate kinase, WW and PDZ domain containing 2
  • Vertebrate Orthologs
    8
  • Human Ortholog
    MAGI2, membrane associated guanylate kinase, WW and PDZ domain containing 2
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ACVRIP1, AIP1, AIP-1, ARIP1, MAGI-2, SSCAM
  • Links
    NCBI Gene ID: 9863
    neXtProt AC: NX_Q86UL8
    UniProt: Q86UL8

  • Chr Location
    7q21.11; chr7:78017055-79453805 (-)  GRCh38.p7

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
less
  • Phenotype Summary
    47 phenotypes from 4 alleles in 6 genetic backgrounds
    3 images
    16 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
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
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
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 OTTMUSG00000025140 VEGA Gene Model | MGI Sequence Detail 1477757 C57BL/6J ±  kb
    transcript OTTMUST00000136790 VEGA | MGI Sequence Detail 4785 Not Applicable  
    polypeptide OTTMUSP00000072151 VEGA | MGI Sequence Detail 1414 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      9900 from dbSNP Build 142
    Protein
    Information
    less
    • UniProt
      9 Sequences
    • InterPro Domains
      IPR020590 Guanylate kinase, conserved site
      IPR008144 Guanylate kinase-like domain
      IPR008145 Guanylate kinase/L-type calcium channel beta subunit
      IPR030036 Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2
      IPR001478 PDZ domain
      IPR036034 PDZ superfamily
      IPR027417 P-loop containing nucleoside triphosphate hydrolase
      IPR001202 WW domain
      IPR036020 WW domain superfamily
    Molecular
    Reagents
    less
    • All nucleic 11
      cDNA 10
      Other 1

      Microarray probesets 4
    References
    more
    • Summaries
      All 57
      Developmental Gene Expression 7
      Diseases 2
      Gene Ontology 12
      Phenotypes 16
    • Earliest
      J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
    • Latest
      J:241274 Lie E, et al., SALM4 suppresses excitatory synapse development by cis-inhibiting trans-synaptic SALM3-LAR adhesion. Nat Commun. 2016 Aug 02;7:12328

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
    Warranty Disclaimer & Copyright Notice
    Send questions and comments to User Support.
    last database update
    06/12/2018
    MGI 6.12
    The Jackson Laboratory