MTCP1

Chr X

mature T cell proliferation 1

Also known as: P13MTCP1, TCL1C, p8MTCP1

NCBI Gene: 4515 ENSG00000214827 UniProt: P56277

The protein is a 13 kDa member of the TCL1 family that may contribute to leukemogenesis. Chromosomal translocations t(X;14) involving this gene are associated with mature T-cell proliferations and leukemia development. The inheritance pattern follows X-linked transmission due to the gene's location on the X chromosome.

Summary from RefSeq

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Active trials

Pubs (1 yr)

P/LP submissions

—

P/LP missense

0.85

LOEUF

—

Mechanism

Clinical Summary— MTCP1

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Population Constraint (gnomAD)

Constrained for loss-of-function variants (OE-LoF 0.18) despite low pLI — interpret in context.

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Clinical Trials

2 active or recruiting trials — potential therapeutic options may be available

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint

0.85LOEUF

pLI 0.452

Z-score 1.79

OE 0.18 (0.06–0.85)

Tolerant

Typical tolerance to LoF variation

Missense Constraint

1.64Z-score

OE missense 0.35 (0.24–0.53)

18 obs / 50.8 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios

LoF OE0.18 (0.06–0.85)

0≤0.351.4

Missense OE0.35 (0.24–0.53)

0≤0.61.4

Synonymous OE0.59

0≤1.21.6

LoF obs/exp: 1 / 5.6Missense obs/exp: 18 / 50.8Syn Z: 1.43

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

MTCP1 · protein map & ClinVar variants

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

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

Autoimmune Lymphoproliferative Syndrome

Study of the ITK Inhibitor Soquelitinib to Reduce Lymphoproliferation and Improve Cytopenias in Autoimmune Lymphoproliferative Syndrome (ALPS)-FAS Patients

RECRUITING

NCT06730126Phase PHASE2National Institute of Allergy and Infectious Diseases (NIAID)Started 2025-03-10

Soquelitinib

LymphomaLeukemiaMultiple Myeloma

Ascertainment of Families for Genetic Studies of Familial Lymphoproliferative Disorders

RECRUITING

NCT00582621Memorial Sloan Kettering Cancer CenterStarted 2000-07

Clinical Literature

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Landmark / reviewRecent case evidence

Full-Text Mentions

NLP-detected gene mentions in article bodies · via PubTator3