TEX14 (Testis Expressed 14, Intercellular Bridge Forming Factor)

Essential regulator of germ cell intercellular bridge formation and male fertility

Gene Information Card

Symbol TEX14
Full Name Testis Expressed 14, Intercellular Bridge Forming Factor
Gene Type Protein coding
Chromosomal Location 17q22
NCBI Gene ID 56155 ncbi.nlm.nih.gov/gene/56155
Ensembl ID ENSG00000141510
UniProt ID Q8IWB6
OMIM ID 605792
HGNC ID 11737
Aliases FLJ10385, MGC138290, MGC138291

Description

TEX14 encodes a protein essential for the formation and stabilization of intercellular bridges between germ cells during spermatogenesis. These bridges allow cytoplasmic sharing and are critical for synchronous development of spermatids. Loss-of-function mutations in TEX14 cause non-obstructive azoospermia and male infertility.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Spermatogenic failure 20 (SPGF20) Loss of TEX14 disrupts intercellular bridge formation, leading to meiotic arrest and absence of mature spermatozoa. OMIM #618145; ClinVar pathogenic variants
Non-obstructive azoospermia Biallelic TEX14 mutations impair germ cell syncytium, resulting in azoospermia. Case-control studies; NCBI GeneReviews

Expression Profile

Tissue Expression
Tissue nTPM level
Testis 38.2 High
Fallopian tube 0.8 Low
Ovary 0.5 Low
Prostate 0.3 Low
Other tissues <0.1 Not detected
Cell Line Expression
Cell Line nTPM Notes
Spermatocytes (primary) High Key site of intercellular bridge formation
Spermatids High Cytoplasmic bridges essential for differentiation
Sertoli cells Low Supporting role only
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.184C>T (p.Arg62*) Nonsense Rare Premature stop; loss of protein function
c.1015G>A (p.Gly339Arg) Missense Rare Disrupts bridge formation
c.1462_1463del (p.Leu488fs) Frameshift Rare Loss of C-terminal domain
Mutation functional classification

Loss of Function (LOF)

Biallelic loss-of-function mutations (nonsense, frameshift, splice-site) cause complete absence of intercellular bridges, leading to spermatogenic arrest.

Gain of Function (GOF)

Not reported.

Dominant Negative (DN)

Not reported.

Gene Ontology (GO)

• intercellular bridge • spermatogenesis
• male meiosis I • cytoplasmic transport
• cell-cell junction

Pathways

• Intercellular bridge formation
• Spermatid development
• Germ cell syncytium

Protein Summary

TEX14 is a 1499-amino-acid protein localized to the germ cell intercellular bridge. It contains coiled-coil domains and interacts with other bridge components (e.g., CEP55, RAB11) to stabilize the ring-shaped structure. Without TEX14, bridges fail to form, and spermatogenesis halts at the meiotic stage.

Related Products

Product name Cat.No. Species Gene ID
TEX14 Knockout HEK293 Cell Line EDJ-KQ14921 Human 56155 Details Get a Quote
TEX14 Knockout HCT 116 Cell Line EDJ-KQ46608 Human 56155 Details Get a Quote
TEX14 Knockout HeLa Cell Line EDJ-KQ56710 Human 56155 Details Get a Quote
TEX14 Knockout A-549 Cell Line EDJ-KQ65216 Human 56155 Details Get a Quote
Contact Us
*
*
*
How did you hear about us: