Skip to content
Use your HSA or FSA funds
Sequence your genome (opens in a new tab)

Gene

MTAP

methylthioadenosine phosphorylase

Summary

Cytogenetic location
9p21.3
Coordinates
Chromosome 9: 21,802,636–21,867,081 (GRCh38)
Exons
8 exons across 64.4 kb
Protein
283 amino acids
Inheritance
Autosomal dominant
Also known as
MSAP, c86fus
MANE Select transcript
ENST00000644715.2NM_002451.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Curated report relevant to this gene

  • Sclerosing Bone Dysplasias (High Bone Mass)

    • Diaphyseal medullary stenosis with malignant fibrous histiocytomaAutosomal dominant

      Narrowing of the marrow cavity in long bones with a raised risk of bone sarcoma, caused by MTAP region variants.

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

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How MTAP is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Stretches short reads find hard
Chromosome 9, with a bracket where MTAP sits. MTAP and 9 genes near it on chromosome 9, from 21,334,859 to 22,334,858.Chromosome 99p21.3p24.3p24.2p24.1p23p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q13q21.11q21.12q21.13q21.2q21.31q21.32q21.33q22.1q22.2q22.31q22.32q22.33q31.1q31.2q31.3q32q33.1q33.2q33.3q34.11q34.12q34.13q34.2q34.321.4 Mb21.6 Mb21.8 Mb22 Mb22.2 MbKLHL9: 21,320,024–21,335,404, reverse strandKLHL9IFNA6: 21,350,253–21,350,956, reverse strandIFNA6IFNA13: 21,367,372–21,368,057, reverse strandIFNA13IFNA2: 21,384,255–21,385,398, reverse strandIFNA2IFNA8: 21,409,117–21,410,185, forward strandIFNA8IFNA1: 21,440,439–21,441,316, forward strandIFNA1IFNE: 21,480,839–21,482,313, reverse strandIFNEMTAP: 21,802,636–21,867,081, forward strandMTAPCDKN2A: 21,966,924–21,995,301, reverse strandCDKN2ACDKN2B: 22,002,900–22,009,325, reverse strandCDKN2BDiagram of MTAP: 8 exons on the forward strand of chromosome 9Exon 1: 21,802,636–21,802,781, 146 basesExon 2: 21,815,433–21,815,519, 87 basesExon 3: 21,816,714–21,816,772, 59 basesExon 4: 21,818,035–21,818,202, 168 basesExon 5: 21,837,908–21,838,010, 103 basesExon 6: 21,854,631–21,854,870, 240 basesExon 7: 21,859,303–21,859,425, 123 basesExon 8: 21,861,976–21,867,081, 5,106 bases123456785′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 6 kb of the gene's 64.4 kb; 852 of those bases code for the protein.

Traits linked to MTAP

The Human Phenotype Ontology lists these as features of the rare conditions MTAP 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 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • 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.). MTAP gene: methylthioadenosine phosphorylase. Retrieved 17 October 2026, from https://dantelabs.com/genes/mtap

Vancouver

Dante Labs. MTAP gene: methylthioadenosine phosphorylase [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/mtap

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test