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Gene

SOS2

SOS Ras/Rho guanine nucleotide exchange factor 2

Summary

Cytogenetic location
14q21.3
Coordinates
Chromosome 14: 50,117,130–50,231,578 (GRCh38)
Exons
23 exons across 114.4 kb
Protein
1,332 amino acids
Inheritance
Autosomal dominant
MANE Select transcript
ENST00000216373.10NM_006939.4
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 reports relevant to this gene

  • Noonan Syndrome

    • Autosomal dominant

      Noonan Syndrome (NS) is characterized by short stature, typical facial dysmorphism and congenital heart defects.

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

      Cardiac surveillance, developmental support, growth hormone therapy, genetic counseling, MEK inhibitor trials

    • Noonan Syndrome and Noonan-Related Syndromes

      A group of RAS pathway conditions, including Noonan, Costello, cardiofaciocutaneous and Legius syndromes, with variable heart defects, short stature and distinctive facial features.

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

      Knowing about it supports heart, growth and developmental assessment.

Broader groupings

  • Hypertrophic Cardiomyopathy

    • Autosomal dominant

      One of 62 genes linked to it

      A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract.

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

      Beta-blockers, non-dihydropyridine calcium channel blockers, activity restriction, genetic counseling

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 SOS2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 14, with a bracket where SOS2 sits. SOS2 and 12 genes near it on chromosome 14, from 49,674,354 to 50,674,353.Chromosome 1414q21.3p13p12p11.2p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.11q32.12q32.13q32.2q32.31q32.32q32.3349.8 Mb50 Mb50.2 Mb50.4 Mb50.6 MbPOLE2: 49,643,555–49,688,422, reverse strandPOLE2KLHDC1: 49,693,100–49,753,636, forward strandKLHDC1KLHDC2: 49,767,540–49,828,902, forward strandKLHDC2NEMF: 49,780,955–49,853,055, reverse strandNEMFARF6: 49,892,608–49,897,202, forward strandARF6VCPKMT: 50,108,631–50,116,600, reverse strandVCPKMTSOS2: 50,117,130–50,231,578, reverse strandSOS2L2HGDH: 50,237,563–50,312,243, reverse strandL2HGDHDMAC2L: 50,311,516–50,356,756, forward strandDMAC2LCDKL1: 50,326,265–50,416,461, reverse strandCDKL1MAP4K5: 50,417,845–50,561,126, reverse strandMAP4K5ATL1: 50,532,509–50,634,017, forward strandATL1SAV1: 50,626,616–50,668,600, reverse strandSAV1Diagram of SOS2: 23 exons on the reverse strand of chromosome 14Exon 10: 1 known disease-causing siteExon 9: 2 known disease-causing sitesExon 6: 2 known disease-causing sitesExon 5: 1 known disease-causing siteExon 23: 50,117,130–50,118,853, 1,724 basesExon 22: 50,120,275–50,120,384, 110 basesExon 21: 50,129,961–50,130,002, 42 basesExon 20: 50,130,501–50,130,762, 262 basesExon 19: 50,134,123–50,134,239, 117 basesExon 18: 50,138,612–50,138,784, 173 basesExon 17: 50,139,942–50,140,059, 118 basesExon 16: 50,145,170–50,145,332, 163 basesExon 15: 50,145,477–50,145,596, 120 basesExon 14: 50,150,008–50,150,230, 223 basesExon 13: 50,153,070–50,153,173, 104 basesExon 12: 50,156,999–50,157,121, 123 basesExon 11: 50,158,565–50,158,646, 82 basesExon 10: 50,159,431–50,160,086, 656 basesExon 9: 50,161,482–50,161,609, 128 basesExon 8: 50,174,454–50,174,552, 99 basesExon 7: 50,180,572–50,180,682, 111 basesExon 6: 50,182,463–50,182,606, 144 basesExon 5: 50,188,497–50,188,700, 204 basesExon 4: 50,199,691–50,199,855, 165 basesExon 3: 50,200,953–50,201,084, 132 basesExon 2: 50,204,284–50,204,409, 126 basesExon 1: 50,231,197–50,231,578, 382 bases23201510515′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 5.5 kb of the gene's 114.4 kb; 3,999 of those bases code for the protein.

How a genome test reads SOS2

6

positions in SOS2 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 114.4 kb of SOS2, introns included, not only the 5.5 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.). SOS2 gene: SOS Ras/Rho guanine nucleotide exchange factor 2. Retrieved 16 October 2026, from https://dantelabs.com/genes/sos2

Vancouver

Dante Labs. SOS2 gene: SOS Ras/Rho guanine nucleotide exchange factor 2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/sos2

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