BAIAP2L2

Chr 22

BAR/IMD domain containing adaptor protein 2 like 2

NCBI Gene: 80115ENSG00000128298UniProt: Q6UXY1

The protein encoded by this gene binds phosphoinositides and promotes the formation of planar or curved membrane structures. The encoded protein is found in RAB13-positive vesicles and at intercellular contacts with the plasma membrane. [provided by RefSeq, Dec 2012]

157
ClinVar variants
26
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— BAIAP2L2
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
26 Pathogenic / Likely Pathogenic· 114 VUS of 157 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
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.
1.10LOEUF
pLI 0.000
Z-score 1.20
OE 0.73 (0.50–1.10)
Tolerant

Highly tolerant — LoF variants common in population

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.
0.24Z-score
OE missense 0.96 (0.87–1.06)
283 obs / 294.5 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.0.73 (0.50–1.10)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.96 (0.87–1.06)
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.1.01
0≤1.21.6
LoF obs/exp: 17 / 23.2Missense obs/exp: 283 / 294.5Syn Z: -0.08

ClinVar Variant Classifications

157 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic23
Likely Pathogenic3
VUS114
Likely Benign6
Conflicting1
23
Pathogenic
3
Likely Pathogenic
114
VUS
6
Likely Benign
1
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
23
0
23
Likely Pathogenic
0
0
3
0
3
VUS
0
113
1
0
114
Likely Benign
0
3
0
3
6
Benign
0
0
0
0
0
Conflicting
—1
Total0116273147

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

View in ClinVar →

Protein Context — Lollipop Plot

BAIAP2L2 · 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
Unveiling ac4C modification pattern: a prospective target for improving the response to immunotherapeutic strategies in melanoma.
Liu J et al.·J Transl Med
2025
BAIAP2L2 facilitates hepatocellular carcinoma progression and immune evasion of via targeting JAK1-mediated pathway and PD-L1 expression.
Xie Z et al.·Cancer Gene Ther
2025
N6-methyladenosine RNA modified BAIAP2L2 facilitates extracellular vesicles-mediated chemoresistance transmission in gastric cancer.
Liao Y et al.·J Transl Med
2025
HNF1β-associated cyst development and electrolyte disturbances are not explained by BAIAP2L2 expression.
Tholen LE et al.·FASEB J
2023
Identification of prognostic hub genes and functional role of BAIAP2L2 in prostate cancer progression: a transcriptomic and experimental study.
Zhan X et al.·Front Immunol
2025Functional
Development and validation of a 16-gene T-cell- related prognostic model in non-small cell lung cancer.
Zhang A et al.·Front Immunol
2025Functional
Rare-variant association analysis reveals known and new age-related hearing loss genes.
Cornejo-Sanchez DM et al.·Eur J Hum Genet
2023
Comprehensive analysis of malignant subtypes of lung adenocarcinoma based on multi-omics landscape and functional validation of prognostic biomarker BAIAP2L2.
Jiang B et al.·Sci Rep
2025Functional
Identification of diagnostic biomarkers in prostate cancer-related fatigue by construction of predictive models and experimental validation.
Chen M et al.·Br J Cancer
2025Functional
Profiles of immune cell infiltration and immune-related genes in the tumor microenvironment of osteosarcoma cancer.
Liu R et al.·BMC Cancer
2021
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