SOHLH2
Spermatogenesis and Oogenesis Specific Basic Helix-Loop-Helix 2
Gene Information Card
| Symbol | SOHLH2 |
|---|---|
| Full Name | Spermatogenesis and Oogenesis Specific Basic Helix-Loop-Helix 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 13q13.3 |
| NCBI Gene ID | 30837 ncbi.nlm.nih.gov/gene/30837 |
| Ensembl ID | ENSG00000135046 |
| UniProt ID | Q9NX45 |
| OMIM ID | 616096 |
| HGNC ID | 27843 |
| Aliases | bHLHe80, SPGF37 |
Description
SOHLH2 encodes a basic helix-loop-helix (bHLH) transcription factor that plays a critical role in germ cell development. It is specifically expressed in the testis and ovary, where it regulates genes involved in spermatogenesis and oogenesis. Mutations in SOHLH2 are associated with spermatogenic failure and non-obstructive azoospermia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spermatogenic failure 37 | Loss-of-function mutations impair SOHLH2 transcriptional activity, disrupting spermatogenesis | OMIM #616096; ClinVar |
| Non-obstructive azoospermia | Homozygous or compound heterozygous mutations lead to meiotic arrest | PubMed; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Ovary | 3.2 | Low |
| Fallopian tube | 0.8 | Not detected |
| Prostate | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NTERA-2 (testicular embryonal carcinoma) | 8.1 | Moderate expression |
| OVCAR-3 (ovarian adenocarcinoma) | 1.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.346C>T (p.Arg116*) | Nonsense | Rare | Loss of function; premature truncation |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; no translation initiation |
Mutation functional classification
Loss of Function (LOF)
Nonsense and start-loss mutations lead to truncated or absent protein, causing spermatogenic failure.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Germ cell development
• Transcriptional regulation of spermatogenesis
Protein Summary
SOHLH2 is a 328-amino acid protein containing a basic helix-loop-helix domain. It forms homodimers or heterodimers with other bHLH factors to bind E-box sequences and activate transcription of genes required for germ cell differentiation. The protein is predominantly nuclear and expressed in spermatogonia and oocytes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SOHLH2 Knockout HEK293 Cell Line | EDJ-KQ16698 | Human | 54937 | Details Get a Quote |
| CCDC169-SOHLH2 Knockout HEK293 Cell Line | EDJ-KQ52472 | Human | 100526761 | Details Get a Quote |
| SOHLH2 Knockout HeLa Cell Line | EDJ-KQ56505 | Human | 54937 | Details Get a Quote |
| CCDC169-SOHLH2 Knockout HeLa Cell Line | EDJ-KQ60935 | Human | 100526761 | Details Get a Quote |
| SOHLH2 Knockout A-549 Cell Line | EDJ-KQ64997 | Human | 54937 | Details Get a Quote |
| CCDC169-SOHLH2 Knockout A-549 Cell Line | EDJ-KQ69410 | Human | 100526761 | Details Get a Quote |
| SOHLH2 Knockout HCT 116 Cell Line | EDJ-KQ73443 | Human | 54937 | Details Get a Quote |
| CCDC169-SOHLH2 Knockout HCT 116 Cell Line | EDJ-KQ77761 | Human | 100526761 | Details Get a Quote |
