MAGI2 (membrane associated guanylate kinase, WW and PDZ domain containing 2)

2007-12-01  

Identity

HGNC
LOCATION
7q21.11
LOCUSID
ALIAS
ACVRIP1,AIP-1,AIP1,ARIP1,MAGI-2,NPHS15,SSCAM
FUSION GENES

Other Information

Locus ID:

NCBI: 9863
MIM: 606382
HGNC: 18957
Ensembl: ENSG00000187391

Variants:

dbSNP: 9863
ClinVar: 9863
TCGA: ENSG00000187391
COSMIC: MAGI2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000187391ENST00000354212Q86UL8
ENSG00000187391ENST00000419488Q86UL8
ENSG00000187391ENST00000519748A0A0D9SFP3
ENSG00000187391ENST00000522342A0A0D9SF86
ENSG00000187391ENST00000522391E7EWI0
ENSG00000187391ENST00000524268A0A0D9SFY9
ENSG00000187391ENST00000535697A0A0E3D6M1
ENSG00000187391ENST00000626691A0A0D9SEY4
ENSG00000187391ENST00000628361A0A0D9SEZ7
ENSG00000187391ENST00000628781A0A0D9SET0
ENSG00000187391ENST00000628980A0A0D9SGI1
ENSG00000187391ENST00000629359A0A0D9SGF8
ENSG00000187391ENST00000630991A0A0D9SGF2
ENSG00000187391ENST00000634996A0A0U1RRH4
ENSG00000187391ENST00000636039A0A1B0GUV4
ENSG00000187391ENST00000636178A0A1B0GTH8
ENSG00000187391ENST00000636717A0A1B0GUI9
ENSG00000187391ENST00000637282A0A1B0GVS6
ENSG00000187391ENST00000637441A0A1B0GTC0
ENSG00000187391ENST00000637486A0A1B0GUF0
ENSG00000187391ENST00000637585A0A1B0GVS0

Expression (GTEx)

0
1
2
3
4
5
6

Pathways

PathwaySourceExternal ID
Rap1 signaling pathwayKEGGhsa04015
Rap1 signaling pathwayKEGGko04015
Cell-Cell communicationREACTOMER-HSA-1500931
Nephrin interactionsREACTOMER-HSA-373753

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
192400612009Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.75
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
242583462014MiR-134/487b/655 cluster regulates TGF-β-induced epithelial-mesenchymal transition and drug resistance to gefitinib by targeting MAGI2 in lung adenocarcinoma cells.61
179891072008Associations with tight junction genes PARD3 and MAGI2 in Dutch patients point to a common barrier defect for coeliac disease and ulcerative colitis.50
190860532009Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment.34
185654862008Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11.28
223817342012MAGI1 copy number variation in bipolar affective disorder and schizophrenia.17
279324802017MAGI2 Mutations Cause Congenital Nephrotic Syndrome.17
296793392018Long non-coding RNA (lncRNA) MAGI2-AS3 inhibits breast cancer cell growth by targeting the Fas/FasL signalling pathway.17

Citation

Dessen P

MAGI2 (membrane associated guanylate kinase, WW and PDZ domain containing 2)

Atlas Genet Cytogenet Oncol Haematol. 2007-12-01

Online version: http://atlasgeneticsoncology.org/gene/49960/magi2