BRDT (Bromodomain Testis Associated) Gene
A key regulator of spermatogenesis and potential therapeutic target in male infertility and cancer
Gene Information Card
| Symbol | BRDT |
|---|---|
| Full Name | Bromodomain Testis Associated |
| Gene Type | Protein coding |
| Chromosomal Location | 1p22.1 |
| NCBI Gene ID | 676 ncbi.nlm.nih.gov/gene/676 |
| Ensembl ID | ENSG00000137948 |
| UniProt ID | Q58F21 |
| OMIM ID | 602144 |
| HGNC ID | 1105 |
| Aliases | CT9, BRD6, SPGF21 |
Description
BRDT encodes a testis-specific bromodomain-containing protein essential for chromatin remodeling during spermatogenesis. It is a member of the BET (bromodomain and extra-terminal) family and plays a critical role in meiotic and post-meiotic stages of male germ cell development. Mutations in BRDT are associated with spermatogenic failure and male infertility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (spermatogenic failure) | Loss-of-function mutations impair chromatin condensation and acrosome formation, leading to azoospermia or severe oligozoospermia | OMIM #602144; ClinVar |
| Non-obstructive azoospermia | Disruption of BRDT bromodomains reduces binding to acetylated histones, blocking meiotic progression | NCBI Gene; PubMed studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 68.5 | High |
| Fallopian tube | 0.2 | Not detected |
| Other tissues | <0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Seminoma cell line (TCam-2) | 12.3 | Testicular germ cell tumor model |
| Embryonic stem cells (H1) | 0.0 | No expression |
| HeLa | 0.0 | No expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34*) | Nonsense | Rare | Premature stop; loss of bromodomain 1; associated with azoospermia |
| c.442G>A (p.Gly148Arg) | Missense | Rare | Reduced histone binding; impaired spermatogenesis |
| c.1234_1235del (p.Lys412Glufs*3) | Frameshift | Rare | Truncated protein; loss of ET domain |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations cause complete loss of BRDT function, leading to spermatogenic arrest.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • histone binding (GO:0042393) |
| • chromatin binding (GO:0003682) | • chromatin remodeling (GO:0006338) |
| • spermatogenesis (GO:0007283) | • nucleus (GO:0005634) |
Pathways
• BET protein-mediated chromatin regulation
• Spermatogenesis (meiotic cell cycle)
Protein Summary
BRDT is a testis-specific BET family protein containing two N-terminal bromodomains that recognize acetylated lysines on histones H3 and H4, and a C-terminal extra-terminal (ET) domain. It facilitates chromatin compaction and transcriptional regulation during spermatid elongation. Its expression is restricted to male germ cells, making it a promising target for non-hormonal male contraceptives and a biomarker for testicular cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BRDT Knockout HEK293 Cell Line | EDJ-KQ3475 | Human | 676 | Details Get a Quote |
| BRDT Knockout HeLa Cell Line | EDJ-KQ52732 | Human | 676 | Details Get a Quote |
| BRDT Knockout A-549 Cell Line | EDJ-KQ61204 | Human | 676 | Details Get a Quote |
| BRDT Knockout HCT 116 Cell Line | EDJ-KQ69697 | Human | 676 | Details Get a Quote |
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