Magi2 MGI Mouse Gene Detail - MGI:1354953 - membrane associated guanylate kinase, WW and PDZ domain containing 2

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

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

SNPs within 2kb

9899 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
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 (+)

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, AIP1, AIP-1, ARIP1, MAGI-2, NPHS15, SSCAM
Links

HGNC:18957

NCBI Gene ID: 9863

neXtProt AC: NX_Q86UL8

UniProt: Q86UL8
Chr Location

7q21.11; chr7:78017055-79453667 (-) GRCh38

MGI Vertebrate Homology

Magi2 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: MAGI2
Gene Tree

Magi2

Diseases

1 with human MAGI2 associations

				Human Disease	Mouse Models
				nephrotic syndrome type 15 IDs nephrotic syndrome type 15 DOID:0080271 OMIM:617609

Click on a disease name to see all genes associated with that disease.

Mutations/Alleles

1 with disease annotations

References

2 with disease annotations

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Phenotype Summary

33 phenotypes from 3 alleles in 5 genetic backgrounds
14 phenotypes from multigenic genotypes
3 images
19 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

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.

All Mutations and Alleles

12
Chemically induced (other)

2
Endonuclease-mediated

2
Gene trapped

2
Radiation induced

1
Spontaneous

1
Targeted

3
Transgenic

1
Genomic Mutations

4 involving Magi2
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

71 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

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.

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All GO Annotations

87
GO References

15

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	non-membrane-bounded organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

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

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase magi2

ZFIN magi2a, magi2b

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All Sequences

101
RefSeq

35
UniProt

9
CCDS

CCDS39019.1, CCDS51424.1, CCDS51425.1

Ensembl

ENSMUSG00000040003 (Evidence)
NCBI Gene

50791

			Length	Strain/Species	Flank
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

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UniProt

9 Sequences
Protein Ontology

PR:000010084 membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2

(term hierarchy)
PDB

6JJZ, 6KKG, 7D6F, 7YKF, 7YKG, 7YKH, 7YKI
InterPro Domains

IPR020590 Guanylate kinase, conserved site

IPR008144 Guanylate kinase-like domain

IPR008145 Guanylate kinase/L-type calcium channel beta subunit

IPR001478 PDZ domain

IPR036034 PDZ superfamily

IPR027417 P-loop containing nucleoside triphosphate hydrolase

IPR001202 WW domain

IPR036020 WW domain superfamily

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All nucleic 15

cDNA 11

Primer pair 2

Other 2

Microarray probesets 4

Summaries

All 69

Developmental Gene Expression 11

Diseases 2

Gene Ontology 15

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

TSS for Magi2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr45258	Chr5:19431740-19431798 (+)	-265 bp
Tssr45259	Chr5:19431900-19431988 (+)	-90 bp
Tssr45260	Chr5:19432053-19432064 (+)	25 bp
Tssr45261	Chr5:19432202-19432242 (+)	188 bp
Tssr45262	Chr5:19902036-19902042 (+)	470,005 bp
Tssr45264	Chr5:20112500-20112549 (+)	680,491 bp
Tssr45265	Chr5:20112709-20112760 (+)	680,701 bp
Tssr45266	Chr5:20112772-20112809 (+)	680,757 bp
Tssr45267	Chr5:20157654-20157657 (+)	725,622 bp
Tssr1432	Chr5:20256009-20256020 (+)	823,981 bp
Tssr45268	Chr5:20290585-20290599 (+)	858,558 bp
Tssr45269	Chr5:20322553-20322555 (+)	890,520 bp
Tssr45270	Chr5:20433169-20433220 (+)	1,001,161 bp
Tssr45271	Chr5:20621772-20621775 (+)	1,189,740 bp
Tssr45272	Chr5:20702087-20702088 (+)	1,270,054 bp
Tssr45273	Chr5:20882678-20882685 (+)	1,450,648 bp

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 Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 04/09/2024 MGI 6.23