MATCAP2

Chr 7

microtubule associated tyrosine carboxypeptidase 2

Also known as: KIAA0895, TMCP2

NCBI Gene: 23366ENSG00000164542UniProt: Q8NCT3

Predicted to enable carboxypeptidase activity; metal ion binding activity; and metallopeptidase activity. Predicted to be involved in proteolysis. [provided by Alliance of Genome Resources, Jul 2025]

74
ClinVar variants
19
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— MATCAP2
📋
ClinVar Variants
19 Pathogenic / Likely Pathogenic· 46 VUS of 74 total submissions
Some data sources returned errors (1)

gnomad: Error: gnomAD API error: 502

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

74 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic17
Likely Pathogenic2
VUS46
Likely Benign8
Conflicting1
17
Pathogenic
2
Likely Pathogenic
46
VUS
8
Likely Benign
1
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
17
0
17
Likely Pathogenic
0
0
2
0
2
VUS
0
42
4
0
46
Likely Benign
0
5
3
0
8
Benign
0
0
0
0
0
Conflicting
—1
Total04726074

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

View in ClinVar →

Protein Context — Lollipop Plot

MATCAP2 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence

No publications found for MATCAP2

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools