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Gene

MNS1

meiosis specific nuclear structural 1

Summary

Cytogenetic location
15q21.3
Coordinates
Chromosome 15: 56,428,724–56,465,137 (GRCh38)
Exons
10 exons across 36.4 kb
Protein
495 amino acids
Also known as
CFAP127, FLJ11222, SPATA40
MANE Select transcript
ENST00000260453.4NM_018365.4
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

  • Heterotaxy & Laterality Defects

    • Visceral Heterotaxy

      Abnormal left-right arrangement of the internal organs, caused by changes in genes such as ZIC3 (X-linked), NODAL, CFC1, MMP21 and PKD1L1, often with complex heart defects and spleen abnormalities.

      • 2 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing about it supports heart and abdominal imaging, infection precautions if the spleen is absent, and reproductive counselling.

How MNS1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 15, with a bracket where MNS1 sits. MNS1 and 6 genes near it on chromosome 15, from 55,946,931 to 56,946,930.Chromosome 1515q21.3p13p12p11.2p11.1q11.1q11.2q12q13.1q13.2q13.3q14q15.1q15.2q15.3q21.1q21.2q21.3q22.1q22.2q22.31q22.32q22.33q23q24.1q24.2q24.3q25.1q25.2q25.3q26.1q26.2q26.356 Mb56.2 Mb56.4 Mb56.6 Mb56.8 MbNEDD4: 55,826,917–55,993,660, reverse strandNEDD4RFX7: 56,087,280–56,245,103, reverse strandRFX7TEX9: 56,243,971–56,445,997, forward strandTEX9MNS1: 56,428,724–56,465,137, reverse strandMNS1ZNF280D: 56,630,164–56,734,086, reverse strandZNF280D: 56,652,488–56,918,571, reverse strandTCF12: 56,918,099–57,299,707, forward strandTCF12Diagram of MNS1: 10 exons on the reverse strand of chromosome 15Exon 6: 1 known disease-causing siteExon 5: 3 known disease-causing sitesExon 4: 1 known disease-causing siteExon 10: 56,428,724–56,429,193, 470 basesExon 9: 56,431,373–56,431,498, 126 basesExon 8: 56,434,138–56,434,395, 258 basesExon 7: 56,443,430–56,443,537, 108 basesExon 6: 56,443,638–56,443,854, 217 basesExon 5: 56,444,444–56,444,673, 230 basesExon 4: 56,446,841–56,446,943, 103 basesExon 3: 56,456,394–56,456,521, 128 basesExon 2: 56,464,026–56,464,247, 222 basesExon 1: 56,464,970–56,465,137, 168 bases10864215′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 kb of the gene's 36.4 kb; 1,488 of those bases code for the protein.

How a genome test reads MNS1

6

positions in MNS1 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 36.4 kb of MNS1, introns included, not only the 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.). MNS1 gene: meiosis specific nuclear structural 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/mns1

Vancouver

Dante Labs. MNS1 gene: meiosis specific nuclear structural 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/mns1

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