TBPL2: TATA-Box Binding Protein Like 2
A testis-specific transcription factor involved in RNA polymerase II initiation
Gene Information Card
| Symbol | TBPL2 |
|---|---|
| Full Name | TATA-Box Binding Protein Like 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 14q22.3 |
| NCBI Gene ID | 387332 ncbi.nlm.nih.gov/gene/387332 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | Q6S8J3 |
| OMIM ID | 612964 |
| HGNC ID | 26136 |
| Aliases | TBP2, TRF3, TBP-related factor 3 |
Description
TBPL2 (TATA-Box Binding Protein Like 2) encodes a testis-specific member of the TATA-binding protein (TBP) family. It functions as a transcription initiation factor for RNA polymerase II, playing a critical role in spermatogenesis by regulating the expression of genes required for male germ cell development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (spermatogenic failure) | Impaired transcription of testis-specific genes due to TBPL2 loss-of-function variants | ClinVar, OMIM |
| Non-obstructive azoospermia | Disruption of RNA polymerase II initiation in spermatocytes | NCBI Gene, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | High |
| Fallopian tube | 0.3 | Not detected |
| Prostate | 0.2 | Not detected |
| Other tissues | <0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Spermatocytes | 15.2 | Testis-derived primary cells |
| Spermatids | 10.8 | Testis-derived primary cells |
| HEK293 | 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.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss-of-function |
| c.325C>T (p.Arg109*) | Nonsense | Rare | Premature stop, loss-of-function |
| c.500_501del (p.Glu167fs) | Frameshift | Rare | Frameshift, loss-of-function |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and start-loss variants in TBPL2 lead to truncated or absent protein, impairing testis-specific transcription and causing spermatogenic failure.
Gain of Function (GOF)
No gain-of-function variants reported for TBPL2.
Dominant Negative (DN)
No dominant-negative variants reported for TBPL2.
View complete mutation data：
Gene Ontology (GO)
| • transcription factor TFIID complex (GO:0005669) | • DNA-templated transcription initiation (GO:0006352) |
| • DNA binding (GO:0003677) | • zinc ion binding (GO:0008270) |
| • spermatogenesis (GO:0007283) |
Pathways
• RNA polymerase II transcription initiation (Reactome R-HSA-75953)
• TFIID assembly (Reactome R-HSA-109581)
Protein Summary
TBPL2 is a 316-amino-acid protein containing a conserved TBP-like core domain that binds to the TATA box. It is expressed exclusively in testis, where it replaces TBP in the TFIID complex to drive transcription of genes essential for spermatogenesis. The protein lacks the N-terminal glutamine-rich region found in TBP, suggesting specialized regulatory roles.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TBPL2 Knockout HEK293 Cell Line | EDJ-KQ15654 | Human | 387332 | Details Get a Quote |
| TBPL2 Knockout HeLa Cell Line | EDJ-KQ59973 | Human | 387332 | Details Get a Quote |
| TBPL2 Knockout A-549 Cell Line | EDJ-KQ68435 | Human | 387332 | Details Get a Quote |
| TBPL2 Knockout HCT 116 Cell Line | EDJ-KQ76813 | Human | 387332 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
