TESMIN (Testis Expressed Metallothionein Like Protein, Spermatogenesis Associated)
A testis-specific metallothionein-like gene involved in spermatogenesis and male fertility.
Gene Information Card
| Symbol | TESMIN |
|---|---|
| Full Name | Testis Expressed Metallothionein Like Protein, Spermatogenesis Associated |
| Gene Type | Protein coding |
| Chromosomal Location | 11q13.4 |
| NCBI Gene ID | 339789 ncbi.nlm.nih.gov/gene/339789 |
| Ensembl ID | ENSG00000182220 |
| UniProt ID | Q8N3U4 |
| OMIM ID | 612387 |
| HGNC ID | 26259 |
| Aliases | METALLOTHIONEIN-LIKE 5, MT-like 5, MTL5, C11orf47 |
Description
TESMIN (testis expressed metallothionein like protein, spermatogenesis associated) is a protein-coding gene located on chromosome 11q13.4. It encodes a metallothionein-like protein that is predominantly expressed in the testis and is essential for spermatogenesis. The protein is involved in the regulation of zinc homeostasis and protection against oxidative stress during sperm development. Mutations in TESMIN have been associated with male infertility due to spermatogenic failure.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (spermatogenic failure) | Loss-of-function mutations disrupt zinc homeostasis and increase oxidative stress in developing germ cells, leading to impaired spermatogenesis. | ClinVar, OMIM |
| Non-obstructive azoospermia | Homozygous or compound heterozygous mutations in TESMIN cause meiotic arrest and absence of sperm in semen. | OMIM #612387, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 27.8 | High |
| Fallopian tube | 0.2 | Not detected |
| Prostate | 0.1 | Not detected |
| Ovary | 0.1 | Not detected |
| Other tissues | <0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Spermatocytes (primary) | High | Key cell type for TESMIN expression |
| Spermatids | Moderate | Post-meiotic expression |
| Sertoli cells | Low | Supporting somatic cells |
| Leydig cells | Not detected | Interstitial cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.238C>T (p.Arg80Ter) | Nonsense | Rare | Loss of function; premature termination |
| c.1A>G (p.Met1Val) | Missense | Rare | Loss of function; start codon loss |
| c.301_302del (p.Leu101ValfsTer12) | Frameshift | Rare | Loss of function; truncated protein |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in TESMIN cause spermatogenic failure and male infertility, likely due to disrupted zinc binding and increased oxidative stress in germ cells.
Gain of Function (GOF)
No gain-of-function mutations have been reported for TESMIN.
Dominant Negative (DN)
No dominant-negative mutations have been described for TESMIN.
View complete mutation data：
Gene Ontology (GO)
| • zinc ion binding | • metal ion binding |
| • spermatogenesis | • male gamete generation |
| • cellular response to oxidative stress | • cytoplasm |
Pathways
• Metallothionein-mediated zinc homeostasis
• Spermatogenesis
Protein Summary
TESMIN encodes a small, cysteine-rich metallothionein-like protein of 83 amino acids. It contains a conserved metal-binding domain that coordinates zinc ions, similar to classical metallothioneins. The protein is localized in the cytoplasm of spermatocytes and spermatids, where it regulates zinc availability and protects against oxidative damage during sperm maturation. Loss of TESMIN function leads to meiotic arrest and male infertility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TESMIN Knockout HEK293 Cell Line | EDJ-KQ6666 | Human | 9633 | Details Get a Quote |
| TESMIN Knockout A-549 Cell Line | EDJ-KQ30970 | Human | 9633 | Details Get a Quote |
| TESMIN Knockout HCT 116 Cell Line | EDJ-KQ30971 | Human | 9633 | Details Get a Quote |
| TESMIN Knockout HeLa Cell Line | EDJ-KQ29618 | Human | 9633 | Details Get a Quote |
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