MAGI2 membrane associated guanylate kinase, WW and PDZ domain containing 2 [Homo sapiens] - Gene

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Summary

Official Symbol: MAGI2provided by HGNC
Official Full Name: membrane associated guanylate kinase, WW and PDZ domain containing 2provided by HGNC
Primary source: HGNC:18957
See related: Ensembl:ENSG00000187391; HPRD:16212; MIM:606382; Vega:OTTHUMG00000130697
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: AIP1; AIP-1; ARIP1; SSCAM; MAGI-2; ACVRIP1
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 kinase-like domain, and multiple PDZ domains. It has structural similarity to the membrane-associated guanylate kinase homologue (MAGUK) family. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 7q21

Sequence :: Chromosome: 7; NC_000007.13 (77646374..79082890, complement)

See MAGI2 in Epigenomics, MapViewer

Chromosome 7 - NC_000007.13 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Interstitial deletions that include the MAGI2 gene on chromosome 7q11.23-q.21.11 are associated with IS cases.
Title: Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11.
there was no association of MAGI2 and PARD3 with IBD.
Title: Replication of genetic variation in the MYO9B gene in Crohn's disease.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Genetic variants that affect length/height in infancy/early childhood in Vietnamese-Korean families.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
analysis of 7q11.21-q11.23 and infantile spasms without deletion of MAGI2 [case report]
Title: Deletion of 7q11.21-q11.23 and infantile spasms without deletion of MAGI2.
Data show that AIP1 is a novel GTPase-activating protein for Arf6, a small GTPase regulating cellular PIP(2) production and formation of the TLR4-TIRAP-MyD88 complex.
Title: AIP1 functions as Arf6-GAP to negatively regulate TLR4 signaling.
MAGI2 genetic variation is associated with inflammatory bowel disease.
Title: MAGI2 genetic variation and inflammatory bowel disease.
Observational study of gene-disease association. (HuGE Navigator)
Title: Intestinal barrier gene variants may not explain the increased levels of antigliadin antibodies, suggesting other mechanisms than altered permeability.
PTEN plays a critical role in MAGI-2-induced inhibition of cell migration and proliferation in human hepatocarcinoma cells
Title: MAGI-2 Inhibits cell migration and proliferation via PTEN in human hepatocarcinoma cells.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women.

Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease.

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Products	Interactant	Other Gene	Source	Pubs	Description
NP_036433.2	AAB50276.1	ATN1	BIND	PubMed	Atrophin-1 interacts with AIP1.
Q86UL8	P27037	ACVR2A	HPRD	PubMed
Q86UL8	P08588	ADRB1	HPRD	PubMed
Q86UL8	P54259	ATN1	HPRD	PubMed
Q86UL8	P35222	CTNNB1	HPRD	PubMed
Q86UL8	Q9UQB3	CTNND2	HPRD	PubMed
Q86UL8	O00548	DLL1	HPRD	PubMed
Q86UL8	Q8TD84	DSCAML1	HPRD	PubMed
Q86UL8	O43424	GRID2	HPRD	PubMed
Q86UL8	Q86UL8	MAGI2	HPRD	PubMed
Q86UL8	Q9ULL4	PLXNB3	HPRD	PubMed
Q86UL8	P60484	PTEN	HPRD	PubMed
Q86UL8	Rap guanine nucleotide exchange factor (GEF) 2	RAPGEF2	HPRD	PubMed
Q86UL8	P84022	SMAD3	HPRD	PubMed
Q86UL8	P01135	TGFA	HPRD	PubMed
BioGRID:115197	BioGRID:106607	ACVR2A	BioGRID	PubMed	Two-hybrid
BioGRID:115197	BioGRID:108156	ATN1	BioGRID	PubMed	Reconstituted Complex; Two-hybrid
BioGRID:115197	BioGRID:121525	DSCAML1	BioGRID	PubMed	Two-hybrid
BioGRID:115197	BioGRID:111378	PLXNB3	BioGRID	PubMed	Two-hybrid

Function	Evidence Code	Pubs
PDZ domain binding	IEA Inferred from Electronic Annotation more info
SMAD binding	ISS Inferred from Sequence or Structural Similarity more info
beta-1 adrenergic receptor binding	IPI Inferred from Physical Interaction more info	PubMed
phosphatase binding	IPI Inferred from Physical Interaction more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein complex binding	IEA Inferred from Electronic Annotation more info
receptor signaling complex scaffold activity	IDA Inferred from Direct Assay more info	PubMed
type II activin receptor binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
SMAD protein signal transduction	ISS Inferred from Sequence or Structural Similarity more info
glomerular visceral epithelial cell development	ISS Inferred from Sequence or Structural Similarity more info
mitotic cell cycle arrest	ISS Inferred from Sequence or Structural Similarity more info
negative regulation of activin receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
negative regulation of cell migration	ISS Inferred from Sequence or Structural Similarity more info
negative regulation of cell proliferation	ISS Inferred from Sequence or Structural Similarity more info
negative regulation of protein kinase B signaling cascade	IDA Inferred from Direct Assay more info	PubMed
planar cell polarity pathway involved in axis elongation	NAS Non-traceable Author Statement more info
positive regulation of phosphoprotein phosphatase activity	IDA Inferred from Direct Assay more info	PubMed
positive regulation of receptor internalization	IDA Inferred from Direct Assay more info	PubMed
protein heterooligomerization	ISS Inferred from Sequence or Structural Similarity more info
receptor clustering	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
cell junction	IEA Inferred from Electronic Annotation more info
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
nucleus	IDA Inferred from Direct Assay more info	PubMed
perinuclear region of cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
plasma membrane	IDA Inferred from Direct Assay more info	PubMed
postsynaptic density	ISS Inferred from Sequence or Structural Similarity more info
protein complex	IEA Inferred from Electronic Annotation more info
slit diaphragm	ISS Inferred from Sequence or Structural Similarity more info
synapse	ISS Inferred from Sequence or Structural Similarity more info
synaptosome	IEA Inferred from Electronic Annotation more info
tight junction	IDA Inferred from Direct Assay more info	PubMed

General protein information

Preferred Names: membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2

Names: membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2; atrophin-1-interacting protein 1; atrophin-1-interacting protein A; activin receptor interacting protein 1; membrane-associated guanylate kinase inverted 2

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_011487.1 RefSeqGene

Range

5001..1441517

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_012301.3 → NP_036433.2 membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2

Status: REVIEWED

Source sequence(s)

AA448362, AB014605, AC004808, AC004990, AC007237, AF038563

Consensus CDS

CCDS5594.1

UniProtKB/Swiss-Prot

Q86UL8

Related

ENSP00000346151, OTTHUMP00000161290, ENST00000354212, OTTHUMT00000253197

Conserved Domains (4) summary

cd00992
Location:920 – 1007
Blast Score: 201

PDZ_signaling; PDZ domain found in a variety of Eumetazoan signaling molecules, often in tandem arrangements. May be responsible for specific protein-protein interactions, as most PDZ domains bind C-terminal polypeptides, and binding to internal (non-C-terminal) ...

cd00201
Location:310 – 334
Blast Score: 97

WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...

cl00157
Location:350 – 379
Blast Score: 103

WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...

cl09099
Location:118 – 185
Blast Score: 164

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000007.13 Reference GRCh37.p5 Primary Assembly

Range

77646374..79082890, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000139.1 Alternate HuRef

Range

72249405..73685020, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CRA_TCAGchr7v2

Genomic

AC_000068.1 Alternate CRA_TCAGchr7v2

Range

76978436..78414480, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC004547.1	None
genomic	AC004808.1	AAC23438.1
genomic	AC004945.1	AAC61488.1
genomic	AC004990.1	AAC79151.1
genomic	AC005246.2	AAC25530.1
genomic	AC006043.1	AAD15413.2
genomic	AC006324.3	AAF66080.1
genomic	AC006355.3	None
genomic	AC007237.3	AAP21886.1
genomic	AC007361.2	None
genomic	AC008071.2	None
genomic	AC073092.2	None
genomic	AC073200.6	AAP22360.1
genomic	AC074024.4	None
genomic	CH236949.1	EAL24194.1
genomic	CH471091.2	EAW77021.1
		EAW77022.1
		EAW77023.1
		EAW77024.1
		EAW77025.1
mRNA	AA448362.1	None
mRNA	AB014605.2	BAA31680.2
mRNA	AF038563.1	AAC05370.1
mRNA	AK297353.1	BAH12560.1
mRNA	AK297580.1	BAH12619.1
mRNA	AK298988.1	BAH12916.1
mRNA	AK308685.1	None
mRNA	AK309012.1	None
mRNA	BC150277.1	AAI50278.1