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Gene

SOHLH1

spermatogenesis and oogenesis specific basic helix-loop-helix 1

Summary

Cytogenetic location
9q34.3
Coordinates
Chromosome 9: 135,693,407–135,699,481 (GRCh38)
Exons
8 exons across 6.1 kb
Protein
387 amino acids
Also known as
NOHLH, TEB2, bA100C15.3, bHLHe80, SPATA27
Previous symbols
C9orf157
MANE Select transcript
ENST00000425225.2NM_001101677.2
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Curated reports relevant to this gene

  • Female Infertility

    • Diminished or absent ability of a female to achieve conception.

      • 2 GenCC submitters rate it definitive or strong

  • Male Infertility

    • The inability of the male to effect fertilization of an ovum after a specified period of unprotected intercourse. Male sterility is permanent infertility.

      • 1 GenCC submitter rates it definitive or strong

How SOHLH1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 9, with a bracket where SOHLH1 sits. SOHLH1 and 15 genes near it on chromosome 9, from 135,196,444 to 136,196,443.Chromosome 99q34.3p24.3p24.2p24.1p23p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q13q21.11q21.12q21.13q21.2q21.31q21.32q21.33q22.1q22.2q22.31q22.32q22.33q31.1q31.2q31.3q32q33.1q33.2q33.3q34.11q34.12q34.13q34.2q34.3135.2 Mb135.4 Mb135.6 Mb135.8 Mb136 MbPPP1R26: 135,479,073–135,488,897, forward strandPPP1R26PIERCE1: 135,494,521–135,501,756, reverse strandPIERCE1MRPS2: 135,499,970–135,504,676, forward strandMRPS2LCN1: 135,521,438–135,526,540, forward strandLCN1OBP2A: 135,545,504–135,549,969, forward strandOBP2APAEP: 135,561,750–135,566,955, forward strandPAEP: 135,604,345–135,619,893, forward strandGLT6D1: 135,623,648–135,641,216, reverse strandGLT6D1LCN9: 135,663,309–135,666,961, forward strandLCN9SOHLH1: 135,693,407–135,699,481, reverse strandSOHLH1KCNT1: 135,702,173–135,795,508, forward strandKCNT1CAMSAP1: 135,808,487–135,907,591, reverse strandCAMSAP1UBAC1: 135,924,661–135,961,400, reverse strandUBAC1NACC2: 136,006,537–136,095,327, reverse strandNACC2TMEM250: 136,113,067–136,118,946, reverse strandTMEM250LHX3: 136,196,250–136,205,128, reverse strandLHX3Diagram of SOHLH1: 8 exons on the reverse strand of chromosome 9Exon 8: 1 known disease-causing siteExon 1: 1 known disease-causing siteExon 8: 135,693,407–135,693,814, 408 basesExon 7: 135,694,387–135,694,457, 71 basesExon 6: 135,695,050–135,695,263, 214 basesExon 5: 135,696,612–135,696,805, 194 basesExon 4: 135,697,506–135,697,627, 122 basesExon 3: 135,698,329–135,698,476, 148 basesExon 2: 135,698,995–135,699,126, 132 basesExon 1: 135,699,403–135,699,481, 79 bases876543215′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 1.4 kb of the gene's 6.1 kb; 1,164 of those bases code for the protein.

How a genome test reads SOHLH1

2

positions in SOHLH1 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 6.1 kb of SOHLH1, introns included, not only the 1.4 kb of exons.

Genes linked to the same conditions

Traits linked to SOHLH1

The Human Phenotype Ontology lists these as features of the rare conditions SOHLH1 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.
  • 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.). SOHLH1 gene: spermatogenesis and oogenesis specific basic helix-loop-helix 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/sohlh1

Vancouver

Dante Labs. SOHLH1 gene: spermatogenesis and oogenesis specific basic helix-loop-helix 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/sohlh1

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