OBP2A

Chr 9

odorant binding protein 2A

Also known as: LCN13, OBP, OBP2C, OBPIIa, hOBPIIa

The protein binds and transports small hydrophobic volatile molecules including aldehydes and fatty acids through nasal mucus to olfactory receptors. No disease associations have been established for mutations in this gene based on the provided information. The gene shows low constraint against loss-of-function variants (pLI near 0, LOEUF >1.5), suggesting haploinsufficiency is likely tolerated.

OMIMResearchSummary from RefSeq, UniProt
DNmechanismLOEUF 1.66
Clinical SummaryOBP2A
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.66LOEUF
pLI 0.000
Z-score 0.07
OE 0.98 (0.591.66)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.03Z-score
OE missense 1.01 (0.861.19)
102 obs / 101.1 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.98 (0.591.66)
00.351.4
Missense OE1.01 (0.861.19)
00.61.4
Synonymous OE1.18
01.21.6
LoF obs/exp: 9 / 9.2Missense obs/exp: 102 / 101.1Syn Z: -0.91
DN
0.7131th %ile
GOF
0.6346th %ile
LOF
0.1598th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

OBP2A · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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