DMRTB1
Doublesex and mab-3 related transcription factor B1
Gene Information Card
| Symbol | DMRTB1 |
|---|---|
| Full Name | Doublesex and mab-3 related transcription factor B1 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p32.3 |
| NCBI Gene ID | 63948 ncbi.nlm.nih.gov/gene/63948 |
| Ensembl ID | ENSG00000143612 |
| UniProt ID | Q9Y5R6 |
| OMIM ID | 614804 |
| HGNC ID | 13911 |
| Aliases | DMRT5, DMRTB1 |
Description
DMRTB1 (Doublesex and mab-3 related transcription factor B1) is a protein-coding gene that encodes a transcription factor containing a DM domain, which is involved in sex determination and differentiation. It plays a role in testis development and spermatogenesis. The gene is located on chromosome 1p32.3 and is expressed primarily in the testis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Testicular germ cell tumor | Altered expression or mutation may contribute to tumorigenesis | COSMIC, ClinVar |
| Spermatogenic failure | Loss-of-function variants may impair spermatogenesis | OMIM, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Fallopian tube | 0.3 | Not detected |
| Ovary | 0.2 | Not detected |
| Prostate | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NTERA-2 (testicular embryonal carcinoma) | 8.2 | Moderate expression |
| Seminoma cell lines | 6.5 | Moderate expression |
| HEK 293 | 0.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | Rare | Loss of start codon, likely loss of function |
| c.502C>T (p.Arg168Trp) | missense | Rare | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in DMRTB1 are associated with spermatogenic failure.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity | • RNA polymerase II cis-regulatory region sequence-specific DNA binding |
| • male sex determination | • spermatogenesis |
| • nucleus |
Pathways
• Sex determination
• Spermatogenesis
Protein Summary
DMRTB1 is a 373-amino acid protein containing a DM domain, which is a zinc finger-like DNA-binding motif. It functions as a transcription factor that regulates genes involved in male sexual development and germ cell differentiation. The protein is predominantly expressed in the testis and is essential for normal spermatogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DMRTB1 Knockout HEK293 Cell Line | EDJ-KQ13163 | Human | 63948 | Details Get a Quote |
| DMRTB1 Knockout HeLa Cell Line | EDJ-KQ57003 | Human | 63948 | Details Get a Quote |
| DMRTB1 Knockout A-549 Cell Line | EDJ-KQ65508 | Human | 63948 | Details Get a Quote |
| DMRTB1 Knockout HCT 116 Cell Line | EDJ-KQ73944 | Human | 63948 | Details Get a Quote |
