OBP2B

protein-coding

odorant binding protein 2B, the group of Lipocalins

Gene summary

Predicted to enable odorant binding activity. Predicted to be involved in chemosensory behavior and sensory perception of smell. Predicted to be located in extracellular region. Predicted to be active in obsolete extracellular space. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_014581.4

Inheritance

—

ClinVar variants

U:28B:3

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.87

Max pathogenic AF

—

Genomic locus

chr9:133,205,277-133,209,250

External References & Databases

Ensembl (ENSG00000171102)

Transcript & Mutation Effects

hg38 • Region Span ~4.0 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to OBP2B variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 29

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_014581.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar			1
missense			26 clinvar	3 clinvar		29
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	28	3	0	31

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 15 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_014581.4	RefSeq	NP_055396.1	6	MANE Select
ENST00000372034.8	Ensembl	ENSP00000361104.3	6	MANE Select
NM_001288987.2	RefSeq	NP_001275916.1	6	Standard
ENST00000473737.5	Ensembl	ENSP00000434927.1	6	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

sensory perception of smell
chemosensory behavior

Molecular Function

odorant binding
small molecule binding

Cellular Component

cellular_component
extracellular region

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000372034
Coding exons: 6
Length: 3967
Individuals with no LoFs: 125642
Homozygous LoFs: 1
Heterozygous LoFs: 101
Defined: 125744
p: 0.000406

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.250	93	100	0.930	0.00000577	1101
Missense (PolyPhen)		17	19.777	0.85959		274
Synonymous	-0.756	52	45.5	1.14	0.00000303	315
Loss of Function	0.370	8	9.21	0.868	3.88e-7	117

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00054	0.00049	rare
Latino/Admixed American	0.00012	0.00012	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0.00014	0.00014	rare
European (Non-Finnish)	0.00076	0.00075	rare
South Asian	0.000033	0.000033	rare
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Probably binds and transports small hydrophobic volatile molecules.;

Intolerance Scores

RVIS EVS: 0.59
RVIS percentile EVS: 82.51

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.631

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium