Identity
HGNC
LOCATION
9q34.3
LOCUSID
ALIAS
C9orf157,NOHLH,ODG5,SPATA27,SPGF32,TEB2,bA100C15.3,bHLHe80
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 402381
MIM: 610224
HGNC: 27845
Ensembl: ENSG00000165643
Variants:
dbSNP: 402381
ClinVar: 402381
TCGA: ENSG00000165643
COSMIC: SOHLH1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000165643 | ENST00000298466 | Q5JUK2 |
| ENSG00000165643 | ENST00000425225 | Q5JUK2 |
Expression (GTEx)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38448741 | 2024 | Dysgerminoma Probably Due to a Novel SOHLH1-pathogenic Variant Causing Familial Ovarian Dysgenesis. | 0 |
| 38448741 | 2024 | Dysgerminoma Probably Due to a Novel SOHLH1-pathogenic Variant Causing Familial Ovarian Dysgenesis. | 0 |
| 34448846 | 2022 | The mutation c.346-1G > A in SOHLH1 impairs sperm production in the homozygous but not in the heterozygous condition. | 2 |
| 34448846 | 2022 | The mutation c.346-1G > A in SOHLH1 impairs sperm production in the homozygous but not in the heterozygous condition. | 2 |
| 33236849 | 2021 | Stimulated by retinoic acid gene 8 (STRA8) interacts with the germ cell specific bHLH factor SOHLH1 and represses c-KIT expression in vitro. | 5 |
| 33236849 | 2021 | Stimulated by retinoic acid gene 8 (STRA8) interacts with the germ cell specific bHLH factor SOHLH1 and represses c-KIT expression in vitro. | 5 |
| 29240260 | 2018 | Sohlh1 suppresses glioblastoma cell proliferation, migration, and invasion by inhibition of Wnt/β-catenin signaling. | 5 |
| 29240260 | 2018 | Sohlh1 suppresses glioblastoma cell proliferation, migration, and invasion by inhibition of Wnt/β-catenin signaling. | 5 |
| 25463635 | 2015 | Association of genetic variants in SOHLH1 and SOHLH2 with non-obstructive azoospermia risk in the Chinese population. | 8 |
| 25527234 | 2015 | Transcription factor SOHLH1 potentially associated with primary ovarian insufficiency. | 16 |
| 26375665 | 2015 | Immunohistochemical Study of Expression of Sohlh1 and Sohlh2 in Normal Adult Human Tissues. | 6 |
| 25463635 | 2015 | Association of genetic variants in SOHLH1 and SOHLH2 with non-obstructive azoospermia risk in the Chinese population. | 8 |
| 25527234 | 2015 | Transcription factor SOHLH1 potentially associated with primary ovarian insufficiency. | 16 |
| 26375665 | 2015 | Immunohistochemical Study of Expression of Sohlh1 and Sohlh2 in Normal Adult Human Tissues. | 6 |
| 20506135 | 2010 | Mutations in SOHLH1 gene associate with nonobstructive azoospermia. | 39 |
Citation
Dessen P
SOHLH1 (spermatogenesis and oogenesis specific basic helix-loop-helix 1)
Atlas Genet Cytogenet Oncol Haematol. 2019-04-01
Online version: http://atlasgeneticsoncology.org/gene/57908/sohlh1-(spermatogenesis-and-oogenesis-specific-basic-helix-loop-helix-1)
