CCDC169-SOHLH2 readthrough gene
A readthrough transcript combining CCDC169 and SOHLH2, involved in spermatogenesis and germ cell development.
Gene Information Card
| Symbol | CCDC169-SOHLH2 |
|---|---|
| Full Name | CCDC169-SOHLH2 readthrough |
| Gene Type | readthrough (protein-coding) |
| Chromosomal Location | 13q13.3 |
| NCBI Gene ID | 100506658 ncbi.nlm.nih.gov/gene/100506658 |
| Ensembl ID | ENSG00000259428 |
| UniProt ID | Not available |
| OMIM ID | Not available |
| HGNC ID | HGNC:49465 |
| Aliases | CCDC169-SOHLH2 readthrough transcript |
Description
CCDC169-SOHLH2 is a readthrough gene located on chromosome 13q13.3. It produces a transcript that spans the adjacent CCDC169 and SOHLH2 genes, resulting in a fusion transcript. The readthrough transcript is predicted to encode a protein that may play a role in spermatogenesis and germ cell development, similar to SOHLH2. However, functional characterization is limited.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spermatogenic failure | Disruption of germ cell development | Inferred from SOHLH2 function (OMIM 616950) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | Not available | Predicted (based on SOHLH2 expression) |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Not available | Not available | No cell line expression data |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| Not available | Not available | Not available | Not available |
Mutation functional classification
Loss of Function (LOF)
No data
Gain of Function (GOF)
No data
Dominant Negative (DN)
No data
View complete mutation data：
Protein Summary
The CCDC169-SOHLH2 readthrough transcript is predicted to encode a protein that combines N-terminal sequences from CCDC169 with the C-terminal region of SOHLH2. The SOHLH2 portion contains a basic helix-loop-helix (bHLH) domain, suggesting potential DNA-binding and transcription factor activity. No experimental protein evidence is available in UniProt.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CCDC169-SOHLH2 Knockout HEK293 Cell Line | EDJ-KQ52472 | Human | 100526761 | Details Get a Quote |
| CCDC169-SOHLH2 Knockout HeLa Cell Line | EDJ-KQ60935 | Human | 100526761 | Details Get a Quote |
| CCDC169-SOHLH2 Knockout A-549 Cell Line | EDJ-KQ69410 | Human | 100526761 | Details Get a Quote |
| CCDC169-SOHLH2 Knockout HCT 116 Cell Line | EDJ-KQ77761 | Human | 100526761 | Details Get a Quote |
