Details for: TEX11

Gene ID: 56159

Gene Type:  Protein-coding  - A gene that serves as a template for producing a messenger RNA (mRNA) molecule, which is then translated into a functional protein.

Symbol: TEX11

Ensembl ID: ENSG00000120498

Description: testis expressed 11

Selected Context(s):  Overall

Cell Significance Landscape

Contexts:

Associated with

Significant Cells

Cell Significance Index (CSI) scores for the chosen context(s)

  • cerebellar granule cell CL0001031
    CSI 4.36
    rCSI 6.41%
    PRS 99.81
  • choroid plexus epithelial cell CL0000706
    CSI 3.59
    rCSI 5.87%
    PRS 99.56
  • pancreatic acinar cell CL0002064
    CSI 3.08
    rCSI 4.1%
    PRS 99.56

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Network Configuration

Explore relationships of the current gene. Select an Interaction Source: 'ONTOLOGY' for shared pathways (GO/Reactome) or 'STRING' for protein-protein interactions. Further refine by selecting context genes and comparing Cell Significance Index (CSI) scores between baseline and target cell types and their specific contexts.

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  • Query Gene
  • Node Color (Target Cell CSI, relative to current network):
    • Very High
    • High
    • Medium
    • Low
    • Very Low
    • CSI N/A
  • Node Size: Proportional to Target Cell CSI magnitude
  • STRING PPI Edge
  • Shared Pathway Edge (ONTOLOGY)

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Other Information

This section provides additional information about the gene, including a description generated by an AI language model and details about associated proteins.

## Summary [TEX11](/details-gene/56159), or Testis Expressed 11, is a protein-coding gene located on the X chromosome ([Link](https://doi.org/10.1038/nature03440)). As its name suggests, it is critically involved in male fertility, specifically in the process of meiosis. Functional annotations and extensive research highlight its essential role in synaptonemal complex assembly, meiotic recombination, and chromosome segregation during spermatogenesis ([Link](https://doi.org/10.1371/journal.pgen.1000042)). Consequently, mutations in [TEX11](/details-gene/56159) are a known cause of meiotic arrest and non-obstructive azoospermia (infertility) in men ([Link](https://doi.org/10.1056/nejmoa1406192), [Link](https://omim.org/entry/300311)). While its function in germ cells is well-established, expression data indicates a significant presence in other tissues. **Overall**, the highest expression significance is observed in [cerebellar granule cell](/details-cell/CL0001031), [choroid plexus epithelial cell](/details-cell/CL0000706), and [pancreatic acinar cell](/details-cell/CL0002064), suggesting potential, yet less characterized, functions beyond male reproduction. ## Cellular Roles and Expression Landscape The primary and most studied role of [TEX11](/details-gene/56159) is within male germ cells during spermatogenesis. Its expression is particularly crucial for the progression of meiosis, a process highly active in spermatocytes. Research confirms that an abundance of X-linked genes are expressed in spermatogonia, which is consistent with the essential role of [TEX11](/details-gene/56159) in this lineage ([Link](https://doi.org/10.1038/86927)). Loss-of-function studies in mice and genetic analyses in humans firmly establish that [TEX11](/details-gene/56159) is required for the proper repair of meiotic double-strand breaks and the formation of crossovers ([Link](https://doi.org/10.1371/journal.pgen.1000042)). Interestingly, broad expression analysis reveals a different landscape of cellular significance. **Overall**, [TEX11](/details-gene/56159) shows the highest CSI value in [cerebellar granule cell](/details-cell/CL0001031) (CSI: 4.36), followed by [choroid plexus epithelial cell](/details-cell/CL0000706) (CSI: 3.59) and [pancreatic acinar cell](/details-cell/CL0002064) (CSI: 3.08). This suggests that while its functional necessity is most evident in the testis, the gene product is also abundant and may play a role in specific neuronal and exocrine cell types. The functions in these somatic cells remain largely unexplored. ## Pathways and Molecular Function The functional annotations for [TEX11](/details-gene/56159) overwhelmingly point to its central role in meiosis. It is a key structural component of the `[GO:0000795](https://www.ebi.ac.uk/QuickGO/term/GO:0000795)` (Synaptonemal complex) and its `[GO:0000801](https://www.ebi.ac.uk/QuickGO/term/GO:0000801)` (Central element), a protein structure that mediates chromosome pairing. This localization is critical for its involvement in `[GO:0007130](https://www.ebi.ac.uk/QuickGO/term/GO:0007130)` (Synaptonemal complex assembly) and the subsequent process of `[GO:0007131](https://www.ebi.ac.uk/QuickGO/term/GO:0007131)` (Reciprocal meiotic recombination), which ensures genetic diversity. Mouse models have shown its specific importance in the `[GO:0000712](https://www.ebi.ac.uk/QuickGO/term/GO:0000712)` (Resolution of meiotic recombination intermediates), highlighting its function as ZIP4H, a homolog of a protein involved in crossover formation ([Link](https://doi.org/10.1371/journal.pgen.1000042)). Defects in these processes due to [TEX11](/details-gene/56159) mutations lead to `[GO:0007060](https://www.ebi.ac.uk/QuickGO/term/GO:0007060)` (Male meiosis chromosome segregation) failure, triggering `[GO:0035234](https://www.ebi.ac.uk/QuickGO/term/GO:0035234)` (Ectopic germ cell programmed cell death). This is consistent with its annotation in regulating the `[GO:0006915](https://www.ebi.ac.uk/QuickGO/term/GO:0006915)` (Apoptotic process). At the molecular level, its function is mediated through `[GO:0005515](https://www.ebi.ac.uk/QuickGO/term/GO:0005515)` (Protein binding), facilitating the assembly of the large protein complexes required for meiosis. ## Research Directions The well-defined role of [TEX11](/details-gene/56159) in male infertility contrasts sharply with its high expression significance in non-reproductive tissues like the brain and pancreas. This discrepancy suggests unexplored functions and provides fertile ground for new research. **Proposed Hypotheses:** 1. The high expression of [TEX11](/details-gene/56159) in [cerebellar granule cell](/details-cell/CL0001031) indicates a role in maintaining genomic integrity in these long-lived, post-mitotic neurons. Its function in DNA recombination and repair during meiosis may be co-opted for DNA damage repair in the somatic context. 2. Given its expression in secretory cells like the [pancreatic acinar cell](/details-cell/CL0002064) and [choroid plexus epithelial cell](/details-cell/CL0000706), [TEX11](/details-gene/56159) may have a secondary function related to the regulation of protein complexes involved in large-scale secretory processes or the maintenance of specialized cellular junctions. 3. The clinical phenotypes associated with [TEX11](/details-gene/56159) mutations may extend beyond infertility. Subtle, previously unassessed neurological or exocrine pancreatic dysfunctions might be present in individuals with azoospermia caused by [TEX11](/details-gene/56159) variants. **Key Experiment:** To test the hypothesis that [TEX11](/details-gene/56159) is involved in neuronal DNA repair, a conditional knockout mouse model could be developed using the Cre-lox system to specifically delete *Tex11* in cerebellar granule cells. These mice, along with wild-type controls, could be subjected to a source of DNA damage (e.g., low-dose irradiation). The cellular response could be assessed by immunofluorescence staining for DNA damage markers such as gamma-H2AX and 53BP1 foci. Single-cell transcriptomics could further reveal downstream pathway alterations related to DNA repair and apoptosis in the knockout neurons. **Therapeutic Potential:** As the known pathology of [TEX11](/details-gene/56159) is due to loss-of-function mutations leading to infertility, it is not a candidate for therapeutic inhibition. The therapeutic potential would lie in gene restoration or replacement strategies for certain forms of male infertility, though such approaches are highly complex and currently theoretical. For now, the clinical relevance of [TEX11](/details-gene/56159) is primarily diagnostic, where its sequencing can provide a definitive cause for non-obstructive azoospermia, guiding patient counseling and decisions regarding assisted reproductive technologies ([Link](https://doi.org/10.1111/andr.12378), [Link](https://doi.org/10.1038/s41436-020-0907-1)).

Genular Protein ID: 3235151556

Symbol: TEX11_HUMAN

Name: Testis-expressed protein 11

UniProtKB Accession Codes:

Q8IYF3 A8K8V6 Q5JQQ8 Q96LZ4 Q96M47 Q9BXU6

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 9 Ensembl 4 GO 15 Gene3D 1 GeneCards 1 GeneTree 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 RNAct 1 RefSeq 3 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 11279525

Title: An abundance of X-linked genes expressed in spermatogonia.

PubMed ID: 11279525

DOI: 10.1038/86927

PubMed ID: 18369460

Title: ZIP4H (TEX11) deficiency in the mouse impairs meiotic double strand break repair and the regulation of crossing over.

PubMed ID: 18369460

DOI: 10.1371/journal.pgen.1000042

PubMed ID: 25970010

Title: X-linked TEX11 mutations, meiotic arrest, and azoospermia in infertile men.

PubMed ID: 25970010

DOI: 10.1056/nejmoa1406192

PubMed ID: 29742103

Title: SHOC1 is a ERCC4-(HhH)2-like protein, integral to the formation of crossover recombination intermediates during mammalian meiosis.

PubMed ID: 29742103

DOI: 10.1371/journal.pgen.1007381

PubMed ID: 28718531

Title: Next-generation sequencing for patients with non-obstructive azoospermia: implications for significant roles of monogenic/oligogenic mutations.

PubMed ID: 28718531

DOI: 10.1111/andr.12378

PubMed ID: 32741963

Title: Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men.

PubMed ID: 32741963

DOI: 10.1038/s41436-020-0907-1

Sequence Information:

  • Length: 940
  • Mass: 107889
  • Checksum: 20A3B0BF58B82EF9
  • Sequence:
    • MISAHCNLRL LCSSDSSASA SQVAGTTEVV ENLVTNDNSP NIPEAIDRLF SDIANINRES 
MAEITDIQIE EMAVNLWNWA LTIGGGWLVN EEQKIRLHYV ACKLLSMCEA SFASEQSIQR 
LIMMNMRIGK EWLDAGNFLI ADECFQAAVA SLEQLYVKLI QRSSPEADLT MEKITVESDH 
FRVLSYQAES AVAQGDFQRA SMCVLQCKDM LMRLPQMTSS LHHLCYNFGV ETQKNNKYEE 
SSFWLSQSYD IGKMDKKSTG PEMLAKVLRL LATNYLDWDD TKYYDKALNA VNLANKEHLS 
SPGLFLKMKI LLKGETSNEE LLEAVMEILH LDMPLDFCLN IAKLLMDHER ESVGFHFLTI 
IHERFKSSEN IGKVLILHTD MLLQRKEELL AKEKIEEIFL AHQTGRQLTA ESMNWLHNIL 
WRQAASSFEV QNYTDALQWY YYSLRFYSTD EMDLDFTKLQ RNMACCYLNL QQLDKAKEAV 
AEAERHDPRN VFTQFYIFKI AVIEGNSERA LQAIITLENI LTDEESEDND LVAERGSPTM 
LLSLAAQFAL ENGQQIVAEK ALEYLAQHSE DQEQVLTAVK CLLRFLLPKI AEMPESEDKK 
KEMDRLLTCL NRAFVKLSQP FGEEALSLES RANEAQWFRK TAWNLAVQCD KDPVMMREFF 
ILSYKMSQFC PSDQVILIAR KTCLLMAVAV DLEQGRKAST AFEQTMFLSR ALEEIQTCND 
IHNFLKQTGT FSNDSCEKLL LLYEFEVRAK LNDPLLESFL ESVWELPHLE TKTFETIAII 
AMEKPAHYPL IALKALKKAL LLYKKEEPID ISQYSKCMHN LVNLSVPDGA SNVELCPLEE 
VWGYFEDALS HISRTKDYPE MEILWLMVKS WNTGVLMFSR SKYASAEKWC GLALRFLNHL 
TSFKESYETQ MNMLYSQLVE ALSNNKGPVF HEHGYWSKSD