TAGAP

Chr 6

T cell activation RhoGTPase activating protein

Also known as: ARHGAP47, FKSG15, IDDM21, TAGAP1

NCBI Gene: 117289ENSG00000164691UniProt: Q8N103

This gene encodes a member of the Rho GTPase-activator protein superfamily. The encoded protein may function as a Rho GTPase-activating protein. Alterations in this gene may be associated with several diseases, including rheumatoid arthritis, celiac disease, and multiple sclerosis. Alternate splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2013]

86
ClinVar variants
26
Pathogenic / LP
0.85
pLI score
0
Active trials
Clinical Summary— TAGAP
⚡
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.85) — some intolerance to loss-of-function variants.
📋
ClinVar Variants
26 Pathogenic / Likely Pathogenic· 53 VUS of 86 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.42LOEUF
pLI 0.846
Z-score 3.10
OE 0.13 (0.05–0.42)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
1.40Z-score
OE missense 0.81 (0.74–0.88)
347 obs / 428.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.13 (0.05–0.42)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.81 (0.74–0.88)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.04
0≤1.21.6
LoF obs/exp: 2 / 14.9Missense obs/exp: 347 / 428.8Syn Z: -0.47

ClinVar Variant Classifications

86 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic25
Likely Pathogenic1
VUS53
Likely Benign3
Benign4
25
Pathogenic
1
Likely Pathogenic
53
VUS
3
Likely Benign
4
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
25
0
25
Likely Pathogenic
0
0
1
0
1
VUS
0
48
5
0
53
Likely Benign
0
3
0
0
3
Benign
0
4
0
0
4
Total05531086

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

View in ClinVar →

Protein Context — Lollipop Plot

TAGAP · 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
Key Publications
Landmark & review papers · by relevance
PubMed
Association of LPP and TAGAP Polymorphisms with Celiac Disease Risk: A Meta-Analysis.
Huang SQ et al.·Int J Environ Res Public Health
2017Meta-analysis
Harnessing TAGAP to improve immunotherapy for lung squamous carcinoma treatment by targeting c-Rel in CD4+ T cells.
Cai P et al.·Cancer Immunol Immunother
2025
T cell activation Rho GTPase activating protein (TAGAP) is upregulated in clinical and experimental arthritis.
Arshad M et al.·Cytokine
2018
TAGAP expression influences CD4+ T cell differentiation, immune infiltration, and cytotoxicity in LUAD through the STAT pathway: implications for immunotherapy.
Xu Z et al.·Front Immunol
2023
T-cell activation RhoGTPase-activating protein plays an important role in T(H)17-cell differentiation.
Tamehiro N et al.·Immunol Cell Biol
2017
TAGAP restrains myeloid and T cell activation in inflammatory bowel disease.
Lin RC et al.·Front Immunol
2025
The immunogenetics of Psoriasis: A comprehensive review.
Harden JL et al.·J Autoimmun
2015Review
Molecular mechanisms underpinning T helper 17 cell heterogeneity and functions in rheumatoid arthritis.
van Hamburg JP et al.·J Autoimmun
2018Review
Distinct clinical and genetic features of hepatitis B virus-associated follicular lymphoma in Chinese patients.
Ren W et al.·Blood Adv
2022Cohort
Expression of immune-related genes and breast cancer recurrence in women with ductal carcinoma in situ.
Guerini-Rocco E et al.·Eur J Cancer
2024
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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