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Gene

MAGI2

membrane associated guanylate kinase, WW and PDZ domain containing 2

Summary

Cytogenetic location
7q21.11
Coordinates
Chromosome 7: 78,017,055–79,453,667 (GRCh38)
Exons
22 exons across 1,436.6 kb
Protein
1,455 amino acids
Also known as
AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2
MANE Select transcript
ENST00000354212.9NM_012301.4
Locus type
Protein-coding
  • Very high
  • Confident
  • Low
  • Very low

Curated report relevant to this gene

  • Nephrotic Syndrome

    • Nephrosis

      Pathological processes of the KIDNEY without inflammatory or neoplastic components. Nephrosis may be a primary disorder or secondary complication of other diseases. It is characterized by the NEPHROTIC SYNDROME indicating the presence of PROTEINURIA and HYPOALBUMINEMIA with accompanying EDEMA.

      • 2 GenCC submitters rate it definitive or strong

How MAGI2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 7, with a bracket where MAGI2 sits. MAGI2 and 14 genes near it on chromosome 7, from 76,580,442 to 80,890,280.Chromosome 77q21.11p22.3p22.2p22.1p21.3p21.2p21.1p15.3p15.2p15.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.21q11.22q11.23q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q31.1q31.2q31.31q31.32q31.33q32.1q32.2q32.3q33q34q35q36.1q36.2q36.377 Mb77.5 Mb78 Mb78.5 Mb79 Mb79.5 Mb80 Mb80.5 MbPOMZP3: 76,601,809–76,627,288, reverse strandPOMZP3SPDYE17: 77,022,306–77,032,361, reverse strandSPDYE17SPDYE18: 77,050,391–77,063,938, reverse strandSPDYE18CCDC146: 77,122,434–77,329,533, forward strandCCDC146FGL2: 77,193,182–77,199,884, reverse strandFGL2GSAP: 77,310,483–77,416,607, reverse strandGSAPPTPN12: 77,537,065–77,640,072, forward strandPTPN12RSBN1L: 77,696,440–77,783,022, forward strandRSBN1LTMEM60: 77,793,728–77,799,723, reverse strandTMEM60PHTF2: 77,798,652–77,957,503, forward strandPHTF2MAGI2: 78,017,055–79,453,667, reverse strandMAGI2GNAI1: 79,768,028–80,226,181, forward strandGNAI1CD36: 80,369,532–80,679,277, forward strandCD36GNAT3: 80,458,635–80,512,064, reverse strandGNAT3SEMA3C: 80,742,538–80,922,393, reverse strandSEMA3CDiagram of MAGI2: 22 exons on the reverse strand of chromosome 7Exon 9: 1 known disease-causing siteExon 4: 1 known disease-causing siteExon 1: 2 known disease-causing sitesExon 22: 78,017,055–78,019,976, 2,922 basesExon 21: 78,078,947–78,079,085, 139 basesExon 20: 78,125,694–78,125,837, 144 basesExon 19: 78,127,197–78,127,416, 220 basesExon 18: 78,132,889–78,133,060, 172 basesExon 17: 78,135,021–78,135,206, 186 basesExon 16: 78,160,025–78,160,273, 249 basesExon 15: 78,167,916–78,168,108, 193 basesExon 14: 78,178,011–78,178,102, 92 basesExon 13: 78,185,629–78,185,670, 42 basesExon 12: 78,194,874–78,195,063, 190 basesExon 11: 78,201,162–78,201,193, 32 basesExon 10: 78,255,943–78,256,581, 639 basesExon 9: 78,343,778–78,343,960, 183 basesExon 8: 78,345,922–78,346,043, 122 basesExon 7: 78,369,156–78,369,213, 58 basesExon 6: 78,489,761–78,489,840, 80 basesExon 5: 78,501,577–78,501,787, 211 basesExon 4: 78,521,430–78,521,645, 216 basesExon 3: 78,627,120–78,627,239, 120 basesExon 2: 79,007,090–79,007,206, 117 basesExon 1: 79,453,020–79,453,667, 648 bases22201510515′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 7 kb of the gene's 1,436.6 kb; 4,368 of those bases code for the protein.

Sequencing MAGI2

6

positions in MAGI2 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 1,436.6 kb of MAGI2, introns included, not only the 7 kb of exons.

ClinVar pathogenic variants (6)

The MAGI2 variants ClinVar classifies pathogenic or likely pathogenic for any condition, reviewed by at least one submitter with criteria, and the most reviewed of them. It is ClinVar's public record of the gene, never a result.

  • Likely pathogenic 6
VariantConditionsClinVar classificationReview status
NM_012301.4(MAGI2):c.3567+1G>T (opens in a new tab)nephrotic syndrome 15Likely pathogenic1 star out of 4 criteria provided, single submitter
NM_012301.4(MAGI2):c.2269+2dup (opens in a new tab)nephrotic syndrome 15Likely pathogenic1 star out of 4 criteria provided, single submitter
NM_012301.4(MAGI2):c.1390del (p.Asp464fs) (opens in a new tab)nephrotic syndrome 15Likely pathogenic1 star out of 4 criteria provided, single submitter
NM_012301.4(MAGI2):c.712G>T (p.Glu238Ter) (opens in a new tab)nephrotic syndrome 15Likely pathogenic1 star out of 4 criteria provided, single submitter
NM_012301.4(MAGI2):c.147del (p.Gly50fs) (opens in a new tab)nephrotic syndrome 15Likely pathogenic1 star out of 4 criteria provided, single submitter
NM_012301.4(MAGI2):c.79C>T (p.Gln27Ter) (opens in a new tab)nephrotic syndrome 15Likely pathogenic1 star out of 4 criteria provided, single submitter

Genes linked to the same conditions

Traits linked to MAGI2

The Human Phenotype Ontology lists these as features of the rare conditions MAGI2 can cause. Each trait's page lists the other genes linked to it.

External links

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-18: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.18-8b139e39.

Cite this page

APA

Dante Labs. (n.d.). MAGI2 gene: membrane associated guanylate kinase, WW and PDZ domain containing 2. Retrieved 19 October 2026, from https://dantelabs.com/genes/magi2

Vancouver

Dante Labs. MAGI2 gene: membrane associated guanylate kinase, WW and PDZ domain containing 2 [Internet]. [cited 19 October 2026]. Available from: https://dantelabs.com/genes/magi2

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