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Gene

MAGED2

MAGE family member D2

Summary

Cytogenetic location
Xp11.21
Coordinates
Chromosome X: 54,807,745–54,816,015 (GRCh38)
Exons
13 exons across 8.3 kb
Protein
606 amino acids
Inheritance
X-linked recessive
Also known as
JCL-1, BCG1, 11B6, MAGE-D2, HCA10, MAGED, MGC8386
MANE Select transcript
ENST00000375068.6NM_177433.3
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Bartter Disease

    • Bartter Disease Type 5X-linked recessive

      Any Bartter syndrome in which the cause of the disease is a mutation in the MAGED2 gene.

      • ClinGen rates the link definitive
      • 3 GenCC submitters rate it definitive or strong
    • Bartter Syndrome

      A group of inherited salt-wasting kidney tubule disorders, caused by genes such as SLC12A1, KCNJ1, CLCNKB, BSND and CASR, with low potassium, metabolic alkalosis and high urine calcium.

      • ClinGen rates the link definitive
      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing guides salt and potassium replacement and monitoring of growth and kidney calcification.

Inheritance

X-linked recessive
The change is on the X chromosome, so one copy affects males, who have one X, while females with one are usually carriers. A carrier mother passes it on to each child with a one-in-two chance.

How MAGED2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome X, with a bracket where MAGED2 sits. MAGED2 and 14 genes near it on chromosome X, from 54,311,880 to 55,311,879.Chromosome XXp11.21p22.33p22.32p22.31p22.2p22.13p22.12p22.11p21.3p21.2p21.1p11.4p11.3p11.23p11.22p11.21p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q23q24q25q26.1q26.2q26.3q27.1q27.2q27.3q2854.4 Mb54.6 Mb54.8 Mb55 Mb55.2 MbWNK3: 54,192,823–54,358,642, reverse strandWNK3TSR2: 54,440,402–54,448,640, forward strandTSR2FGD1: 54,445,454–54,496,248, reverse strandFGD1GNL3L: 54,529,900–54,621,565, forward strandGNL3LITIH6: 54,748,918–54,798,255, reverse strandITIH6MAGED2: 54,807,745–54,816,015, forward strandMAGED2TRO: 54,920,462–54,931,436, forward strandTROPFKFB1: 54,931,434–54,994,789, reverse strandPFKFB1APEX2: 55,000,323–55,009,057, forward strandAPEX2ALAS2: 55,009,055–55,030,986, reverse strandALAS2PAGE2B: 55,028,123–55,078,913, forward strandPAGE2BPAGE2: 55,089,011–55,092,842, forward strandPAGE2VCF2: 55,143,102–55,161,310, reverse strandVCF2PAGE5: 55,211,094–55,224,116, forward strandPAGE5PAGE3: 55,257,591–55,264,927, reverse strandPAGE3Diagram of MAGED2: 13 exons on the forward strand of chromosome XExon 3: 2 known disease-causing sitesExon 11: 2 known disease-causing sitesExon 12: 1 known disease-causing siteExon 1: 54,807,745–54,807,802, 58 basesExon 2: 54,809,303–54,809,376, 74 basesExon 3: 54,809,722–54,810,213, 492 basesExon 4: 54,810,821–54,811,129, 309 basesExon 5: 54,811,250–54,811,313, 64 basesExon 6: 54,811,574–54,811,653, 80 basesExon 7: 54,812,157–54,812,251, 95 basesExon 8: 54,812,945–54,813,024, 80 basesExon 9: 54,813,118–54,813,160, 43 basesExon 10: 54,813,488–54,813,550, 63 basesExon 11: 54,814,661–54,814,775, 115 basesExon 12: 54,815,248–54,815,690, 443 basesExon 13: 54,815,881–54,816,015, 135 bases123456789101112135′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 2.1 kb of the gene's 8.3 kb; 1,821 of those bases code for the protein.

How a genome test reads MAGED2

6

positions in MAGED2 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 8.3 kb of MAGED2, introns included, not only the 2.1 kb of exons.

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 2026-10-16: 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 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). MAGED2 gene: MAGE family member D2. Retrieved 16 October 2026, from https://dantelabs.com/genes/maged2

Vancouver

Dante Labs. MAGED2 gene: MAGE family member D2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/maged2

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