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Gene

MOCS2

molybdenum cofactor synthesis 2

Summary

Cytogenetic location
5q11.2
Coordinates
Chromosome 5: 53,095,679–53,109,757 (GRCh38)
Exons
7 exons across 14.1 kb
Protein
188 amino acids
Inheritance
Autosomal recessive
Also known as
MOCO1, MOCS2A, MOCS2B
MANE Select transcript
ENST00000396954.8NM_004531.5
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

  • Molybdenum Cofactor & Isolated Sulfite Oxidase Deficiency

    • Molybdenum Cofactor DeficiencyAutosomal recessive

      A condition caused by changes in both copies of MOCS1, MOCS2 or GPHN, which are needed to make the molybdenum cofactor used by sulfite oxidase and other enzymes.

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

      Fosdenopterin is an approved treatment for type A (MOCS1) and works best when started very early; carrier status is relevant to family planning.

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How MOCS2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 5, with a bracket where MOCS2 sits. MOCS2 and 5 genes near it on chromosome 5, from 52,602,718 to 53,602,717.Chromosome 55q11.2p15.33p15.32p15.31p15.2p15.1p14.3p14.2p14.1p13.3p13.2p13.1p12p11q11.1q11.2q12.1q12.2q12.3q13.1q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q31.1q31.2q31.3q32q33.1q33.2q33.3q34q35.1q35.2q35.352.8 Mb53 Mb53.2 Mb53.4 Mb53.6 MbITGA1: 52,787,621–52,961,951, forward strandITGA1PELO: 52,787,621–52,807,447, forward strandPELOITGA2: 52,989,082–53,094,779, forward strandITGA2MOCS2: 53,095,679–53,109,757, reverse strandMOCS2FST: 53,479,819–53,487,134, forward strandFSTNDUFS4: 53,560,633–53,683,340, forward strandNDUFS4Diagram of MOCS2: 7 exons on the reverse strand of chromosome 5Exon 7: 2 known disease-causing sitesExon 6: 3 known disease-causing sitesExon 5: 1 known disease-causing siteExon 4: 3 known disease-causing sitesExon 3: 3 known disease-causing sitesExon 2: 5 known disease-causing sitesExon 1: 4 known disease-causing sitesExon 7: 53,095,679–53,098,667, 2,989 basesExon 6: 53,100,411–53,100,534, 124 basesExon 5: 53,101,359–53,101,509, 151 basesExon 4: 53,102,097–53,102,224, 128 basesExon 3: 53,107,077–53,107,221, 145 basesExon 2: 53,108,522–53,108,643, 122 basesExon 1: 53,109,251–53,109,757, 507 bases76543215′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 4.2 kb of the gene's 14.1 kb; 567 of those bases code for the protein.

How a genome test reads MOCS2

23

positions in MOCS2 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 14.1 kb of MOCS2, introns included, not only the 4.2 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.). MOCS2 gene: molybdenum cofactor synthesis 2. Retrieved 16 October 2026, from https://dantelabs.com/genes/mocs2

Vancouver

Dante Labs. MOCS2 gene: molybdenum cofactor synthesis 2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/mocs2

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