GFY

protein-coding

golgi associated olfactory signaling regulator

Gene summary

Predicted to be involved in sensory perception of smell. Predicted to act upstream of or within non-motile cilium assembly and protein localization to non-motile cilium. Predicted to be located in Golgi membrane. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_001195256.2

Inheritance

—

ClinVar variants

U:84B:4

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.18

Max pathogenic AF

—

Genomic locus

chr19:49,423,749-49,428,987

External References & Databases

Ensembl (ENSG00000261949)

NCBI Gene (100507003)

Transcript & Mutation Effects

hg38 • Region Span ~5.2 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 GFY variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 87

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001195256.2. 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			84 clinvar	3 clinvar		87
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	84	4	0	88

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 5 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001195256.2	RefSeq	NP_001182185.1	3	MANE Select
ENST00000610896.3	Ensembl	ENSP00000478493.1	3	MANE Select
NM_001385187.1	RefSeq	NP_001372116.1	3	Standard
ENST00000576655.5	Ensembl	ENSP00000459439.1	3	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

sensory perception of smell
response to stimulus
protein localization to non-motile cilium
non-motile cilium assembly

Cellular Component

integral component of Golgi membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000576655
Coding exons: 3
Length: 5070
Individuals with no LoFs: 0
Homozygous LoFs: 0
Heterozygous LoFs: 0
Defined: 0
p: 0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.61	195	269	0.724	0.0000127	3269
Missense (PolyPhen)		58	88.662	0.65417		1002
Synonymous	1.76	89	113	0.789	0.00000544	1175
Loss of Function	2.52	2	11.1	0.181	5.59e-7	147

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0	0.0	absent
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Required for proper function of the olfactory system. May be involved in establishing the acuity of olfactory sensory signaling (By similarity). {ECO:0000250}.;

Gene Damage Prediction

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