SOHLH2
spermatogenesis and oogenesis specific basic helix-loop-helix 2
Summary
This gene encodes one of testis-specific transcription factors which are essential for spermatogenesis, oogenesis and folliculogenesis. This gene is located on chromosome 13. The proteins encoded by this gene and another testis-specific transcription factor, SOHLH1, can form heterodimers, in addition to homodimers. There is a read-through locus (GeneID: 100526761) that shares sequence identity with this gene and the upstream CCDC169 (GeneID: 728591). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2013]
Known Variants13 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2296968 | 13:36,744,910 | T/C | — | benign |
| rs76803829 | 13:36,744,920 | T/C | — | likely benign |
| rs1328641 | 13:36,745,029 | C/T | intron variant | — |
| rs150073675 | 13:36,747,923 | G/A | — | likely benign |
| rs150925868 | 13:36,748,957 | C/T | — | likely benign |
| rs9602419 | 13:36,765,970 | G/A | — | benign |
| rs75712673 | 13:36,766,420 | T/G | regulatory region variant | — |
| rs7327064 | 13:36,771,017 | C/A | — | — |
| rs762994605 | 13:36,776,114 | C/T | — | likely benign |
| rs17053630 | 13:36,776,501 | C/T | intron variant | — |
| rs6563386 | 13:36,777,031 | C/A | — | — |
| rs1328626 | 13:36,778,772 | C/A | intron variant | — |
| rs200008856 | 13:36,788,607 | G/T | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.