TBATA Gene (Thymus, Brain and Testes Associated)
Comprehensive genomic and functional overview of TBATA
Gene Information Card
| Symbol | TBATA |
|---|---|
| Full Name | Thymus, Brain and Testes Associated |
| Gene Type | protein-coding |
| Chromosomal Location | 10q22.1 |
| NCBI Gene ID | 219793 ncbi.nlm.nih.gov/gene/219793 |
| Ensembl ID | ENSG00000165804 |
| UniProt ID | Q8N6T3 |
| OMIM ID | 612872 |
| HGNC ID | 28317 |
| Aliases | SPACA4, SAMP14, TEX101 |
Description
TBATA (Thymus, Brain and Testes Associated) is a protein-coding gene located on chromosome 10q22.1. It encodes a glycosylphosphatidylinositol (GPI)-anchored protein expressed predominantly in thymus, brain, and testes. The protein is involved in sperm-egg fusion and immune regulation. Alternative names include SPACA4, SAMP14, and TEX101.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility | Defective sperm-egg fusion due to loss of TBATA function | ClinVar, OMIM |
| Asthenozoospermia | Reduced sperm motility associated with TBATA variants | ClinVar |
| Non-obstructive azoospermia | Absence of sperm in ejaculate linked to TBATA mutations | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 3.2 | Low |
| Thymus | 2.8 | Low |
| Lung | 0.9 | Not detected |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 0.1 | Not detected |
| HeLa | 0.2 | Not detected |
| K562 | 0.1 | Not detected |
| SH-SY5Y | 0.3 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon, likely loss of function |
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Reduced protein stability |
| c.200delG | Frameshift | <0.01% | Premature truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and start-loss variants lead to absent or non-functional protein, impairing sperm-egg fusion.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • single fertilization (GO:0007338) | • fusion of sperm to egg plasma membrane (GO:0007342) |
| • cytoplasmic vesicle (GO:0031410) | • plasma membrane (GO:0005886) |
| • cell surface (GO:0009986) |
Pathways
• Fertilization (Reactome: R-HSA-1187000)
• GPI-anchor biosynthesis (Reactome: R-HSA-163125)
Protein Summary
TBATA encodes a GPI-anchored cell surface protein of 250 amino acids (UniProt Q8N6T3). It is expressed on the sperm acrosome and plays a critical role in sperm-egg adhesion and fusion. The protein contains a signal peptide and a GPI-anchor signal sequence. Structural studies indicate a conserved domain of unknown function (DUF).
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TBATA Knockout HEK293 Cell Line | EDJ-KQ8344 | Human | 219793 | Details Get a Quote |
| TBATA Knockout HeLa Cell Line | EDJ-KQ59100 | Human | 219793 | Details Get a Quote |
| TBATA Knockout A-549 Cell Line | EDJ-KQ67574 | Human | 219793 | Details Get a Quote |
| TBATA Knockout HCT 116 Cell Line | EDJ-KQ75966 | Human | 219793 | Details Get a Quote |
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