GFY

Summary

GFY (golgi associated olfactory signaling regulator, HGNC:44663) is a protein-coding gene on chromosome 19q13.33, encoding Golgi-associated olfactory signaling regulator (I3L273). Required for proper function of the olfactory system.

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.

Source: NCBI Gene 100507003 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 88 total
• MANE Select transcript: NM_001195256

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:44663
Approved symbol	GFY
Name	golgi associated olfactory signaling regulator
Location	19q13.33
Locus type	gene with protein product
Status	Approved
Aliases	Goofy
Ensembl gene	ENSG00000261949
Ensembl biotype	protein_coding
OMIM	618696
Entrez	100507003

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000576655, ENST00000610896

RefSeq mRNA: 2 — MANE Select: NM_001195256 NM_001195256, NM_001385187

CCDS: CCDS58672

Canonical transcript exons

ENST00000610896 — 4 exons

Exon	Start	End
ENSE00002649581	49426410	49427613
ENSE00002655849	49427946	49428119
ENSE00003905766	49428619	49428987
ENSE00003906338	49425388	49425489

Expression profiles

Bgee: expression breadth broad, 26 present calls, max score 82.94.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.4442 / max 253.7732, expressed in 77 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
176980	0.2572	52
176981	0.1870	35

Top tissues by expression

125 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	82.94	gold quality
cortical plate	UBERON:0005343	75.73	gold quality
cerebellum	UBERON:0002037	56.92	gold quality
cerebellar cortex	UBERON:0002129	56.92	gold quality
cerebellar hemisphere	UBERON:0002245	56.86	gold quality
right hemisphere of cerebellum	UBERON:0014890	55.85	gold quality
ganglionic eminence	UBERON:0004023	53.80	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	49.19	gold quality
prefrontal cortex	UBERON:0000451	48.79	gold quality
Brodmann (1909) area 9	UBERON:0013540	48.71	gold quality
anterior cingulate cortex	UBERON:0009835	48.30	gold quality
superior frontal gyrus	UBERON:0002661	48.07	silver quality
frontal cortex	UBERON:0001870	47.90	gold quality
cerebral cortex	UBERON:0000956	47.38	gold quality
right frontal lobe	UBERON:0002810	46.86	gold quality
left testis	UBERON:0004533	46.45	gold quality
right testis	UBERON:0004534	46.44	gold quality
testis	UBERON:0000473	45.75	gold quality
primary visual cortex	UBERON:0002436	45.13	silver quality
ventricular zone	UBERON:0003053	43.63	gold quality
temporal lobe	UBERON:0001871	42.20	gold quality
amygdala	UBERON:0001876	42.02	gold quality
sural nerve	UBERON:0015488	41.93	gold quality
Ammon’s horn	UBERON:0001954	40.46	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	39.68	silver quality
lower esophagus mucosa	UBERON:0035834	38.84	gold quality
brain	UBERON:0000955	37.99	gold quality
skeletal muscle tissue	UBERON:0001134	37.60	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
bone marrow cell	CL:0002092	36.16	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.92

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Gfy	ENSMUSG00000095276
rattus_norvegicus	Gfy	ENSRNOG00000047401

Protein

Protein identifiers

Golgi-associated olfactory signaling regulator — I3L273 (reviewed: I3L273)

Alternative names: Golgi protein in olfactory neurons

All UniProt accessions (1): I3L273

UniProt curated annotations — full annotation on UniProt →

Function. Required for proper function of the olfactory system. May be involved in establishing the acuity of olfactory sensory signaling.

Subcellular location. Golgi apparatus membrane.

RefSeq proteins (2): NP_001182185, NP_001372116 (=MANE)

Domains & families (InterPro)

UniProt features (21 total): compositionally biased region 9, glycosylation site 5, topological domain 2, region of interest 2, signal peptide 1, chain 1, transmembrane region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-I3L273-F1	47.61	0.04

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Glycosylation sites (5): 124, 156, 188, 220, 268

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 29 (showing top): GOBP_PROTEIN_LOCALIZATION_TO_CILIUM, GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, GOBP_CILIUM_ORGANIZATION, GOBP_ORGANELLE_ASSEMBLY, GOBP_PROTEIN_LOCALIZATION_TO_ORGANELLE, GOBP_SENSORY_PERCEPTION, GOBP_CELL_PROJECTION_ORGANIZATION, GOBP_SENSORY_PERCEPTION_OF_SMELL, GOBP_PROTEIN_LOCALIZATION_TO_NON_MOTILE_CILIUM, GOBP_NON_MOTILE_CILIUM_ASSEMBLY, CDC5L_TARGET_GENES, KLF14_TARGET_GENES, MEF2D_TARGET_GENES, PBXIP1_TARGET_GENES, RYBP_TARGET_GENES

GO Biological Process (3): sensory perception of smell (GO:0007608), protein localization to non-motile cilium (GO:0097499), non-motile cilium assembly (GO:1905515)

GO Molecular Function (0):

GO Cellular Component (3): Golgi membrane (GO:0000139), Golgi apparatus (GO:0005794), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
sensory perception of chemical stimulus	1
protein localization to cilium	1
cilium assembly	1
Golgi apparatus	1
bounding membrane of organelle	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

764 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GFY	CD2BP2	O95400	444
GFY	OR2T29	Q8NH02	399
GFY	OR52E4	Q8NGH9	378
GFY	CCER1	Q8TC90	376
GFY	SEPTIN7	Q16181	373
GFY	OR5H2	Q8NGV7	371
GFY	PGF	P49763	369
GFY	ZNF143	P52747	367
GFY	OR2M4	Q96R27	358
GFY	F2Z2I4	F2Z2I4	354
GFY	DEFB130A	P0DP74	350
GFY	CNGA2	Q16280	322
GFY	OR5A2	Q8NGI9	321
GFY	NUP188	Q5SRE5	312
GFY	CHD7	Q9P2D1	309

IntAct

0 interactions, top by confidence:

BioGRID (1): HSPA9 (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: A0A0J9YXV3, A0A172M4N0, A2VE23, A5PL33, C7EMF5, E7EW31, F1NSM7, I3L273, O15027, O48582, O55189, O55196, O97939, P0C671, P0DV77, P14138, Q14D33, Q1XI13, Q28989, Q3B7M4, Q4R729, Q5R7U0, Q5SWP3, Q62840, Q63003, Q6E0U4, Q6H236, Q6NUN9, Q6UXA7, Q7Z2K8, Q86UU5, Q8BM15, Q8K4E0, Q8K4L6, Q8N1P7, Q8N3D4, Q96D09, Q96JG9, Q9BGL9, Q9D7G9

Diamond homologs: I3L273, J3KML8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

88 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	84
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

952 predictions. Top by Δscore:

Variant	Effect	Δscore
19:49423943:G:GT	donor_gain	0.9900
19:49427945:GGC:G	acceptor_gain	0.9900
19:49423939:G:GT	donor_gain	0.9800
19:49423953:TCTGG:T	donor_gain	0.9800
19:49423957:G:GT	donor_gain	0.9800
19:49423974:A:G	donor_gain	0.9800
19:49424008:GG:G	donor_gain	0.9800
19:49424009:GG:G	donor_gain	0.9800
19:49426406:GCA:G	acceptor_loss	0.9800
19:49426407:CAGCT:C	acceptor_loss	0.9800
19:49426408:A:AG	acceptor_gain	0.9800
19:49426409:G:GG	acceptor_gain	0.9800
19:49426409:GCT:G	acceptor_gain	0.9800
19:49426409:GCTAT:G	acceptor_gain	0.9800
19:49427647:G:GT	donor_gain	0.9800
19:49427648:G:T	donor_gain	0.9800
19:49428044:T:TA	acceptor_gain	0.9800
19:49428617:A:AG	acceptor_gain	0.9800
19:49428618:G:GG	acceptor_gain	0.9800
19:49427609:GACCG:G	donor_gain	0.9700
19:49423841:G:GT	donor_gain	0.9600
19:49426409:GC:G	acceptor_gain	0.9600
19:49426409:GCTA:G	acceptor_gain	0.9600
19:49426485:TCC:T	donor_gain	0.9600
19:49427944:A:AG	acceptor_gain	0.9600
19:49427945:G:GG	acceptor_gain	0.9600
19:49427945:GGCGT:G	acceptor_gain	0.9600
19:49427941:TTCA:T	acceptor_loss	0.9500
19:49427944:A:C	acceptor_loss	0.9500
19:49428285:GA:G	acceptor_gain	0.9400

AlphaMissense

3312 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:49428810:T:C	F517L	0.977
19:49428812:C:A	F517L	0.977
19:49428812:C:G	F517L	0.977
19:49428080:T:C	F440L	0.967
19:49428082:C:A	F440L	0.967
19:49428082:C:G	F440L	0.967
19:49428008:G:A	G416R	0.964
19:49428008:G:C	G416R	0.964
19:49428660:T:C	F467L	0.963
19:49428662:T:A	F467L	0.963
19:49428662:T:G	F467L	0.963
19:49428026:G:C	G422R	0.962
19:49428811:T:G	F517C	0.960
19:49427587:T:A	I386N	0.956
19:49428680:G:C	W473C	0.952
19:49428680:G:T	W473C	0.952
19:49427596:A:T	E389V	0.951
19:49428006:C:A	A415E	0.949
19:49428044:T:A	W428R	0.947
19:49428044:T:C	W428R	0.947
19:49427587:T:G	I386S	0.945
19:49427993:T:C	C411R	0.941
19:49428027:G:A	G422D	0.941
19:49428009:G:A	G416E	0.940
19:49428015:C:A	A418E	0.931
19:49427584:T:G	I385S	0.924
19:49428047:T:C	C429R	0.923
19:49428678:T:A	W473R	0.922
19:49428678:T:C	W473R	0.922
19:49428081:T:G	F440C	0.915

dbSNP variants (sampled 300 via entrez): RS1000202330 (19:49428131 G>A,C), RS1000815440 (19:49423092 G>A), RS1000848331 (19:49428445 C>T), RS1001251373 (19:49423603 A>C), RS1001677972 (19:49428989 C>T), RS1002024467 (19:49423638 G>A), RS1002667801 (19:49427911 G>C,T), RS1002725982 (19:49425470 T>A), RS1002782554 (19:49427542 G>A,C), RS1002919579 (19:49422673 G>T), RS1003177082 (19:49424633 T>C), RS1003792255 (19:49426330 A>G), RS1003798009 (19:49424440 G>A), RS1003848811 (19:49424584 C>G), RS1004854059 (19:49423566 G>T)

Disease associations

OMIM: gene MIM:618696 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

5 total (human), top 5 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
ethyl-p-hydroxybenzoate	decreases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, increases expression	1
Fulvestrant	increases methylation	1
Catechin	affects cotreatment, increases expression	1
Triclosan	decreases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.