TCP11X2: Testis-Specific Protein on X Chromosome 2
A testis-specific gene with potential roles in spermatogenesis and male fertility, located on the X chromosome.
Gene Information Card
| Symbol | TCP11X2 |
|---|---|
| Full Name | t-complex 11 family, X-linked 2 |
| Gene Type | protein-coding |
| Chromosomal Location | Xq21.2 |
| NCBI Gene ID | 100130417 ncbi.nlm.nih.gov/gene/100130417 |
| Ensembl ID | ENSG00000229807 |
| UniProt ID | A6NHL2 |
| OMIM ID | 300990 |
| HGNC ID | 33732 |
| Aliases | TCP11L2, CT77 |
Description
TCP11X2 (t-complex 11 family, X-linked 2) is a protein-coding gene located on the X chromosome at Xq21.2. It is part of the TCP11 gene family, which is associated with testis-specific expression and spermatogenesis. The gene encodes a protein that is predicted to be involved in male germ cell development and fertility. TCP11X2 is also known as CT77, a cancer/testis antigen, suggesting potential roles in tumor immunology. Its expression is predominantly in testis, with low or no expression in other tissues. Mutations and altered expression may be linked to male infertility and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility | Altered expression or mutations may disrupt spermatogenesis, leading to reduced fertility. | Expression data from GTEx and literature suggest testis-specific role; functional studies are limited. |
| Cancer (testicular and others) | As a cancer/testis antigen, TCP11X2 may be aberrantly expressed in tumors, triggering immune responses. | Cancer/testis antigen classification based on expression patterns; further validation needed. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 25.3 | High |
| Fallopian Tube | 0.1 | Low |
| Skin | 0.0 | Not detected |
| Other tissues | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Seminoma cell lines | N/A | Expressed as CT antigen |
| Other cancer cell lines | N/A | Variable expression; not well characterized |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs201430920 | SNV (missense) | 0.1% (global) | Amino acid substitution; functional impact unknown |
| rs148211042 | SNV (synonymous) | 0.05% | No amino acid change; likely benign |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported; predicted to impair protein function if occurring in conserved domains.
Gain of Function (GOF)
No evidence for gain-of-function mutations; not reported in oncogenic contexts.
Dominant Negative (DN)
No evidence for dominant-negative effects; not applicable.
View complete mutation data：
Gene Ontology (GO)
| • Molecular function: protein binding (predicted) | • Biological process: spermatogenesis (inferred from expression pattern) |
| • Cellular component: cytoplasm (predicted) |
Pathways
• No specific pathways curated; likely involved in germ cell development and meiosis.
Protein Summary
The TCP11X2 protein is a 299-amino acid polypeptide with a predicted molecular weight of ~33 kDa. It contains a conserved domain of unknown function (DUF) and is localized to the cytoplasm. Its expression is restricted to testis, suggesting a role in spermatogenesis. As a cancer/testis antigen, it may be immunogenic in tumors, making it a potential target for cancer immunotherapy. Structural predictions indicate a globular protein with possible interaction partners in the male germ cell.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TCP11X2 Knockout HEK293 Cell Line | EDJ-KQ15669 | Human | 100996648 | Details Get a Quote |
| TCP11X2 Knockout HeLa Cell Line | EDJ-KQ60987 | Human | 100996648 | Details Get a Quote |
| TCP11X2 Knockout A-549 Cell Line | EDJ-KQ69461 | Human | 100996648 | Details Get a Quote |
| TCP11X2 Knockout HCT 116 Cell Line | EDJ-KQ77812 | Human | 100996648 | Details Get a Quote |
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