TESMIN

Chr 11

testis expressed metallothionein like protein

Also known as: CXCDC2, MTL5, MTLT

NCBI Gene: 9633ENSG00000132749UniProt: Q9Y4I5

Metallothionein proteins are highly conserved low-molecular-weight cysteine-rich proteins that are induced by and bind to heavy metal ions and have no enzymatic activity. They may play a central role in the regulation of cell growth and differentiation and are involved in spermatogenesis. This gene encodes a metallothionein-like protein which has been shown to be expressed differentially in mouse testis and ovary. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

0
Active trials
10
Pathogenic / LP
18
ClinVar variants
5
Pubs (1 yr)
1.2
Missense Z
0.85
LOEUF
Clinical Summary— TESMIN
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
10 Pathogenic / Likely Pathogenic· 7 VUS of 18 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.85LOEUF
pLI 0.000
Z-score 2.09
OE 0.51 (0.32–0.85)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
1.16Z-score
OE missense 0.80 (0.71–0.90)
212 obs / 265.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.51 (0.32–0.85)
0≤0.351.4
Missense OE0.80 (0.71–0.90)
0≤0.61.4
Synonymous OE0.89
0≤1.21.6
LoF obs/exp: 11 / 21.5Missense obs/exp: 212 / 265.3Syn Z: 0.89

ClinVar Variant Classifications

18 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic6
Likely Pathogenic4
VUS7
Likely Benign1
6
Pathogenic
4
Likely Pathogenic
7
VUS
1
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
6
0
6
Likely Pathogenic
0
0
4
0
4
VUS
0
4
3
0
7
Likely Benign
0
0
1
0
1
Benign
0
0
0
0
0
Total0414018

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

TESMIN · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 4 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients