TAF11L2 Gene - TATA-Box Binding Protein Associated Factor 11 Like 2
A testis-specific TAF11 paralog with potential roles in spermatogenesis and transcriptional regulation
Gene Information Card
| Symbol | TAF11L2 |
|---|---|
| Full Name | TATA-box binding protein associated factor 11 like 2 |
| Gene Type | protein coding |
| Chromosomal Location | 1p36.33 |
| NCBI Gene ID | 100129924 ncbi.nlm.nih.gov/gene/100129924 |
| Ensembl ID | ENSG00000232070 |
| UniProt ID | A6NKF9 |
| OMIM ID | Not available |
| HGNC ID | HGNC:37234 |
| Aliases | TAF11L2, TAF11-like 2, MGC16169 |
Description
TAF11L2 (TATA-box binding protein associated factor 11 like 2) is a protein-coding gene located on chromosome 1p36.33. It encodes a protein that shares sequence similarity with TAF11, a subunit of the TFIID complex involved in RNA polymerase II transcription initiation. TAF11L2 is predominantly expressed in testis, suggesting a specialized role in spermatogenesis. The gene is intronless and likely arose from retrotransposition of TAF11 mRNA. Its exact function remains under investigation, but it may modulate transcriptional activity in germ cells.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No disease association reported | Not applicable | No curated disease links in OMIM, ClinVar, or COSMIC as of current data. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | Not available (nTPM not provided in GTEx) | High (based on RNA-seq and in situ data) |
| Other tissues | Not available | Low or undetectable |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| No cell line data available | Not available | No curated expression in common cell lines |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No curated variants | Not applicable | Not available | No functional effect documented |
Mutation functional classification
Loss of Function (LOF)
No evidence of loss-of-function mutations reported.
Gain of Function (GOF)
No evidence of gain-of-function mutations reported.
Dominant Negative (DN)
No evidence of dominant-negative effects reported.
View complete mutation data:
Gene Ontology (GO)
| • Molecular function: Not yet annotated | • Biological process: Not yet annotated |
| • Cellular component: Not yet annotated |
Pathways
• No specific pathway annotations available. TAF11L2 may participate in TFIID-related transcription initiation based on homology to TAF11.
Protein Summary
The TAF11L2 protein (UniProt A6NKF9) is a 211-amino acid protein that shares ~80% identity with TAF11. It contains a histone-fold domain typical of TAF subunits, suggesting it may interact with other TAFs or DNA. However, unlike TAF11, TAF11L2 lacks the WD40 repeat domain and is expressed only in testis. Its precise role in transcription is unclear; it may act as a testis-specific variant of TAF11, potentially influencing the expression of genes required for spermatogenesis. Further studies are needed to confirm its biochemical function and interactions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TAF11L2 Knockout HEK293 Cell Line | EDJ-KQ15592 | Human | 391742 | Details Get a Quote |
| TAF11L2 Knockout A-549 Cell Line | EDJ-KQ46462 | Human | 391742 | Details Get a Quote |
| TAF11L2 Knockout HCT 116 Cell Line | EDJ-KQ46463 | Human | 391742 | Details Get a Quote |
| TAF11L2 Knockout HeLa Cell Line | EDJ-KQ46464 | Human | 391742 | Details Get a Quote |
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