Gene Gene information from NCBI Gene database.
Entrez ID 9863
Gene name Membrane associated guanylate kinase, WW and PDZ domain containing 2
Gene symbol MAGI2
Synonyms (NCBI Gene)
ACVRIP1AIP-1AIP1ARIP1MAGI-2NPHS15SSCAM
Chromosome 7
Chromosome location 7q21.11
Summary The protein encoded by this gene interacts with atrophin-1. Atrophin-1 contains a polyglutamine repeat, expansion of which is responsible for dentatorubral and pallidoluysian atrophy. This encoded protein is characterized by two WW domains, a guanylate ki
SNPs SNP information provided by dbSNP.
6
SNP ID Visualize variation Clinical significance Consequence
rs144078604 G>A,T Conflicting-interpretations-of-pathogenicity, uncertain-significance Coding sequence variant, missense variant
rs144574076 C>T Conflicting-interpretations-of-pathogenicity Synonymous variant, coding sequence variant
rs148580718 G>A,T Conflicting-interpretations-of-pathogenicity Synonymous variant, coding sequence variant
rs587780386 G>A Conflicting-interpretations-of-pathogenicity Coding sequence variant, synonymous variant
rs1135402911 C>- Pathogenic Downstream transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
149
miRTarBase ID miRNA Experiments Reference
MIRT438178 hsa-miR-134-5p 5.0 24258346
MIRT438178 hsa-miR-134-5p 5.0 24258346
MIRT438177 hsa-miR-487b-3p 5.0 24258346
MIRT438176 hsa-miR-655-3p 5.0 24258346
MIRT438178 hsa-miR-134-5p 5.0 24258346
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
59
GO ID Ontology Definition Evidence Reference
GO:0001750 Component Photoreceptor outer segment IEA
GO:0001750 Component Photoreceptor outer segment ISS
GO:0001917 Component Photoreceptor inner segment IEA
GO:0001917 Component Photoreceptor inner segment ISS
GO:0002092 Process Positive regulation of receptor internalization IDA 11526121
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606382 18957 ENSG00000187391
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q86UL8
Protein name Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 (Atrophin-1-interacting protein 1) (AIP-1) (Atrophin-1-interacting protein A) (Membrane-associated guanylate kinase inverted 2) (MAGI-2)
Protein function Seems to act as a scaffold molecule at synaptic junctions by assembling neurotransmitter receptors and cell adhesion proteins (By similarity). Plays a role in nerve growth factor (NGF)-induced recruitment of RAPGEF2 to late endosomes and neurite
PDB 1UEP , 1UEQ , 1UEW , 1UJV , 1WFV
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00595 PDZ 17 98 PDZ domain Domain
PF00625 Guanylate_kin 120 191 Guanylate kinase Domain
PF16663 MAGI_u1 198 259 Disordered
PF00397 WW 304 333 WW domain Domain
PF00595 PDZ 426 506 PDZ domain Domain
PF00595 PDZ 605 679 PDZ domain Domain
PF00595 PDZ 778 859 PDZ domain Domain
PF00595 PDZ 920 1007 PDZ domain Domain
PF00595 PDZ 1147 1226 PDZ domain Domain
Tissue specificity TISSUE SPECIFICITY: Specifically expressed in brain. {ECO:0000269|PubMed:9647693}.
Sequence
MSKSLKKKSHWTSKVHESVIGRNPEGQLGFELKGGAENGQFPYLGEVKPGKVAYESGSKL
VSEELLLEVNETPVAGLTIRDVLAVIKHCKDPLRLKCV
KQGGIVDKDLRHYLNLRFQKGS
VDHELQQIIRDNLYLRTVPCTTRPHKEGEVPGVDYIFITVEDFMELEKSGALLESGTYED
NYYGTPKPPAE
PAPLLLNVTDQILPGATPSAEGKRKRNKSVSNMEKASIEPPEEEEEERP
VVNGNGVVVTPESSEHEDK
SAGASGEMPSQPYPAPVYSQPEELKEQMDDTKPTKPEDNEE
PDPLPDNWEMAYTEKGEVYFIDHNTKTTSWLDPRLAKKAKPPEECKENELPYGWEKIDDP
IYGTYYVDHINRRTQFENPVLEAKRKLQQHNMPHTELGTKPLQAPGFREKPLFTRDASQL
KGTFLSTTLKKSNMGFGFTIIGGDEPDEFLQVKSVIPDGPAAQDGKMETGDVIVYINEVC
VLGHTHADVVKLFQSVPIGQSVNLVL
CRGYPLPFDPEDPANSMVPPLAIMERPPPVMVNG
RHNYETYLEYISRTSQSVPDITDRPPHSLHSMPTDGQLDGTYPPPVHDDNVSMASSGATQ
AELMTLTIVKGAQGFGFTIADSPTGQRVKQILDIQGCPGLCEGDLIVEINQQNVQNLSHT
EVVDILKDCPIGSETSLII
HRGGFFSPWKTPKPIMDRWENQGSPQTSLSAPAIPQNLPFP
PALHRSSFPDSTEAFDPRKPDPYELYEKSRAIYESRQQVPPRTSFRMDSSGPDYKELDVH
LRRMESGFGFRILGGDEPGQPILIGAVIAMGSADRDGRLHPGDELVYVDGIPVAGKTHRY
VIDLMHHAARNGQVNLTVR
RKVLCGGEPCPENGRSPGSVSTHHSSPRSDYATYTNSNHAA
PSSNASPPEGFASHSLQTSDVVIHRKENEGFGFVIISSLNRPESGSTITVPHKIGRIIDG
SPADRCAKLKVGDRILAVNGQSIINMPHADIVKLIKDAGLSVTLRII
PQEELNSPTSAPS
SEKQSPMAQQSPLAQQSPLAQPSPATPNSPIAQPAPPQPLQLQGHENSYRSEVKARQDVK
PDIRQPPFTDYRQPPLDYRQPPGGDYQQPPPLDYRQPPLLDYRQHSPDTRQYPLSDYRQP
QDFDYFTVDMEKGAKGFGFSIRGGREYKMDLYVLRLAEDGPAIRNGRMRVGDQIIEINGE
STRDMTHARAIELIKSGGRRVRLLLK
RGTGQVPEYDEPAPWSSPAAAAPGLPEVGVSLDD
GLAPFSPSHPAPPSDPSHQISPGPTWDIKREHDVRKPKELSACGQKKQRLGEQRERSASP
QRAARPRLEEAPGGQGRPEAGRPASEARAPGLAAADAADAARAGGKEAPRAAAGSELCRR
EGPGAAPAFAGPGGGGSGALEAEGRAGARAGPRPGPRPPGGAPARKAAVAPGPWKVPGSD
KLPSVLKPGASAASR
Sequence length 1455
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Rap1 signaling pathway
PI3K-Akt signaling pathway
 
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
110
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Nephrotic syndrome 15 Likely pathogenic; Pathogenic rs2129210679, rs1135402911, rs1135402912, rs1135402913 RCV002244173
RCV000497254
RCV000497252
RCV000497253
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Adrenocortical carcinoma, hereditary Benign rs7812015 RCV005889120
Cholangiocarcinoma Benign rs73144681 RCV005916994
Familial pancreatic carcinoma Benign; Likely benign rs75675313 RCV005922902
Lung cancer Benign rs149573681 RCV005889119
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 19668339
Asthma Associate 31924195
Breast Neoplasms Associate 27019625, 31081100, 32143617, 32672418
Breast Neoplasms Inhibit 30883342
Carcinoma Hepatocellular Inhibit 32546442
Carcinoma Hepatocellular Associate 36359865, 36852700
Carcinoma Non Small Cell Lung Inhibit 31539127, 32138716
Carcinoma Ovarian Epithelial Associate 39519394
Carcinoma Squamous Cell Associate 36139456
Celiac Disease Associate 24386489