TEX11 (Testis Expressed 11)

A key meiotic recombination factor essential for spermatogenesis and male fertility

Gene Information Card

Symbol TEX11
Full Name Testis Expressed 11
Gene Type Protein coding
Chromosomal Location Xq13.1
NCBI Gene ID 56154 ncbi.nlm.nih.gov/gene/56154
Ensembl ID ENSG00000120438
UniProt ID Q8IYF3
OMIM ID 300311
HGNC ID 11733
Aliases SPGFX8, TEX11, MGC138290

Description

TEX11 (Testis Expressed 11) is a protein-coding gene located on the X chromosome. It encodes a meiotic recombination factor that is essential for homologous chromosome pairing, crossover formation, and completion of meiosis during spermatogenesis. Loss-of-function mutations in TEX11 are a known cause of non-obstructive azoospermia and male infertility.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Spermatogenic failure, X-linked, 8 (SPGFX8) Loss-of-function mutations impair meiotic recombination, leading to meiotic arrest and azoospermia OMIM #300311; multiple case-control studies
Non-obstructive azoospermia Disruption of TEX11 prevents normal sperm production; hemizygous mutations in males cause complete absence of sperm ClinVar; PubMed studies

Expression Profile

Tissue Expression
Tissue nTPM level
Testis 32.5 High
Fallopian tube 0.8 Low
Ovary 0.6 Low
Prostate 0.4 Low
Cell Line Expression
Cell Line nTPM Notes
Testis (spermatocytes) High Enriched in meiotic cells
HEK293 Low Minimal expression
K562 Not detected No expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.495_496delAG (p.Glu166Aspfs*2) Frameshift deletion Rare Loss of function; meiotic arrest
c.1003C>T (p.Arg335*) Nonsense Rare Premature stop; loss of function
c.1385G>A (p.Trp462*) Nonsense Rare Loss of function; associated with azoospermia
Mutation functional classification

Loss of Function (LOF)

Most reported TEX11 mutations are loss-of-function (nonsense, frameshift, splice-site) leading to truncated or absent protein, causing meiotic arrest and azoospermia.

Gain of Function (GOF)

No gain-of-function mutations have been reported for TEX11.

Dominant Negative (DN)

No dominant-negative mutations have been described; TEX11 is X-linked and hemizygous in males.

Gene Ontology (GO)

reciprocal meiotic recombination (GO:0007131) condensed nuclear chromosome (GO:0000794)
nucleus (GO:0005634) synapsis (GO:0007129)
• meiotic DNA double-strand break processing (GO:0007135)

Pathways

Meiotic recombination (Reactome: R-HSA-912446)
Homologous recombination (KEGG: hsa03440)

Protein Summary

The TEX11 protein is a 1,002-amino acid meiotic factor localized to the nucleus. It contains a conserved domain of unknown function (DUF) and is involved in crossover formation and chromosome synapsis during prophase I of meiosis. It interacts with other meiotic proteins such as SPO11 and DMC1 to facilitate homologous recombination. Loss of TEX11 leads to meiotic arrest at the zygotene/pachytene stage, resulting in azoospermia.

Related Products

Product name Cat.No. Species Gene ID
TEX11 Knockout HEK293 Cell Line EDJ-KQ15690 Human 56159 Details Get a Quote
TEX11 Knockout HeLa Cell Line EDJ-KQ56714 Human 56159 Details Get a Quote
TEX11 Knockout A-549 Cell Line EDJ-KQ65220 Human 56159 Details Get a Quote
TEX11 Knockout HCT 116 Cell Line EDJ-KQ73657 Human 56159 Details Get a Quote
Displaying Records 1 To 4 Of 4 Records
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