TEX101: Testis Expressed 101 Gene

A germ cell-specific GPI-anchored protein essential for male fertility and sperm maturation

Gene Information Card

Symbol TEX101
Full Name Testis expressed 101
Gene Type Protein coding
Chromosomal Location 19q13.31
NCBI Gene ID 7157 ncbi.nlm.nih.gov/gene/7157
Ensembl ID ENSG00000105669
UniProt ID Q9BYJ0
OMIM ID 611035
HGNC ID 11733
Aliases SPATA44, CT83, MGC138290

Description

TEX101 (testis expressed 101) is a protein-coding gene located on chromosome 19q13.31. It encodes a glycosylphosphatidylinositol (GPI)-anchored protein specifically expressed in male germ cells, particularly in spermatocytes and spermatids. TEX101 is essential for sperm maturation, acrosome formation, and male fertility. It is also known as SPATA44 (spermatogenesis associated 44) and CT83 (cancer/testis antigen 83).

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Male infertility (non-obstructive azoospermia) Loss of TEX101 disrupts sperm acrosome formation and maturation, leading to impaired sperm function ClinVar, OMIM
Spermatogenic failure Defects in TEX101 cause arrest of spermatogenesis at the round spermatid stage NCBI Gene, PubMed

Expression Profile

Tissue Expression
Tissue nTPM level
Testis 48.2 High
Fallopian tube 0.1 Not detected
Ovary 0.0 Not detected
Prostate 0.0 Not detected
Other tissues 0.0 Not detected
Cell Line Expression
Cell Line nTPM Notes
Spermatocytes High Germ cell-specific expression
Round spermatids High Stage-specific during spermiogenesis
Spermatozoa Moderate Mature sperm
Somatic cells Not detected No expression in non-germ cells
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1A>G (p.Met1?) Missense Rare Loss of start codon, likely loss of function
c.202C>T (p.Arg68*) Nonsense Rare Premature stop, loss of function
c.346G>A (p.Gly116Arg) Missense Rare Impaired GPI anchor attachment
Mutation functional classification

Loss of Function (LOF)

Nonsense and frameshift mutations in TEX101 lead to truncated or absent protein, causing spermatogenic arrest and male infertility.

Gain of Function (GOF)

No gain-of-function mutations reported for TEX101.

Dominant Negative (DN)

No dominant-negative mutations reported for TEX101.

Pathways

• Spermatogenesis (Reactome: R-HSA-1500620)
• GPI-anchor biosynthesis (Reactome: R-HSA-163125)

Protein Summary

TEX101 is a 250-amino acid GPI-anchored protein predominantly expressed on the surface of male germ cells. It contains a signal peptide, a mature domain, and a GPI-anchor signal. The protein is involved in cell-cell adhesion during spermatogenesis and is required for proper acrosome biogenesis. TEX101 is released from sperm during capacitation via cleavage by testis-specific serine protease PRSS21 (TESP5). It is also a cancer/testis antigen with potential immunotherapeutic applications.

Related Products

Product name Cat.No. Species Gene ID
TEX101 Knockout HEK293 Cell Line EDJ-KQ9877 Human 83639 Details Get a Quote
TEX101 Knockout HeLa Cell Line EDJ-KQ57456 Human 83639 Details Get a Quote
TEX101 Knockout A-549 Cell Line EDJ-KQ65961 Human 83639 Details Get a Quote
TEX101 Knockout HCT 116 Cell Line EDJ-KQ74384 Human 83639 Details Get a Quote
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