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.

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 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
Displaying Records 1 To 4 Of 4 Records
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