FUCA2

Summary

FUCA2 (alpha-L-fucosidase 2, HGNC:4008) is a protein-coding gene on chromosome 6q24.2, encoding Plasma alpha-L-fucosidase (Q9BTY2). Alpha-L-fucosidase is responsible for hydrolyzing the alpha-1,6-linked fucose joined to the reducing-end N-acetylglucosamine of the carbohydrate moieties of glycoproteins.

This gene encodes a plasma alpha-L-fucosidase, which represents 10-20% of the total cellular fucosidase activity. The protein is a member of the glycosyl hydrolase 29 family, and catalyzes the hydrolysis of the alpha-1,6-linked fucose joined to the reducing-end N-acetylglucosamine of the carbohydrate moieties of glycoproteins. This enzyme is essential for Helicobacter pylori adhesion to human gastric cancer cells.

Source: NCBI Gene 2519 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 77 total
• Druggable target: yes
• MANE Select transcript: NM_032020

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:4008
Approved symbol	FUCA2
Name	alpha-L-fucosidase 2
Location	6q24.2
Locus type	gene with protein product
Status	Approved
Aliases	MGC1314, dJ20N2.5
Ensembl gene	ENSG00000001036
Ensembl biotype	protein_coding
OMIM	136820
Entrez	2519

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 12 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000002165, ENST00000367585, ENST00000451668, ENST00000871527, ENST00000871528, ENST00000871529, ENST00000933421, ENST00000933422, ENST00000933423, ENST00000933424, ENST00000966138, ENST00000966139, ENST00000966140

RefSeq mRNA: 1 — MANE Select: NM_032020 NM_032020

CCDS: CCDS5200

Canonical transcript exons

ENST00000002165 — 7 exons

Exon	Start	End
ENSE00001828368	143494812	143495847
ENSE00002227591	143497389	143497497
ENSE00002248349	143503913	143504252
ENSE00002258449	143502355	143502565
ENSE00003473218	143501932	143502122
ENSE00003705756	143511411	143511720
ENSE00003708374	143507237	143507424

Expression profiles

Bgee: expression breadth ubiquitous, 236 present calls, max score 96.85.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 79.3170 / max 492.8426, expressed in 1774 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
76042	77.5653	1774
76041	1.1739	753
76040	0.5779	323

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
decidua	UBERON:0002450	96.85	gold quality
islet of Langerhans	UBERON:0000006	96.52	gold quality
stromal cell of endometrium	CL:0002255	96.35	gold quality
kidney epithelium	UBERON:0004819	95.80	silver quality
ileal mucosa	UBERON:0000331	95.37	gold quality
rectum	UBERON:0001052	95.34	gold quality
monocyte	CL:0000576	94.63	gold quality
cardiac muscle of right atrium	UBERON:0003379	94.59	gold quality
adrenal tissue	UBERON:0018303	94.46	gold quality
leukocyte	CL:0000738	94.24	gold quality
tendon of biceps brachii	UBERON:0008188	94.21	gold quality
left adrenal gland	UBERON:0001234	93.73	gold quality
left adrenal gland cortex	UBERON:0035825	93.55	gold quality
right adrenal gland	UBERON:0001233	93.42	gold quality
pancreas	UBERON:0001264	93.38	gold quality
right adrenal gland cortex	UBERON:0035827	93.37	gold quality
duodenum	UBERON:0002114	93.26	gold quality
mucosa of transverse colon	UBERON:0004991	93.00	gold quality
adrenal cortex	UBERON:0001235	92.96	gold quality
adrenal gland	UBERON:0002369	92.89	gold quality
body of pancreas	UBERON:0001150	92.55	gold quality
metanephros	UBERON:0000081	92.38	gold quality
placenta	UBERON:0001987	92.20	gold quality
gall bladder	UBERON:0002110	92.10	gold quality
jejunal mucosa	UBERON:0000399	91.95	gold quality
smooth muscle tissue	UBERON:0001135	91.94	gold quality
myocardium	UBERON:0002349	91.86	silver quality
metanephros cortex	UBERON:0010533	91.81	gold quality
colonic mucosa	UBERON:0000317	91.47	gold quality
right ovary	UBERON:0002118	91.43	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	14.89

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

49 targeting FUCA2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-557	99.96	70.01	1640
HSA-MIR-767-5P	99.95	70.85	993
HSA-MIR-96-5P	99.95	72.80	2140
HSA-MIR-144-3P	99.94	73.98	2698
HSA-MIR-101-3P	99.94	75.03	2230
HSA-MIR-4525	99.94	64.38	675
HSA-MIR-5010-5P	99.94	64.11	705
HSA-MIR-12133	99.92	71.82	2006
HSA-MIR-1271-5P	99.91	71.99	1972
HSA-MIR-4503	99.85	71.45	1869
HSA-MIR-4307	99.82	70.45	3374
HSA-MIR-4668-5P	99.79	70.58	3782
HSA-MIR-187-5P	99.74	70.26	1404
HSA-MIR-4802-3P	99.72	70.13	1273
HSA-MIR-4306	99.72	70.50	3630
HSA-MIR-466	99.67	70.85	2863
HSA-MIR-5197-5P	99.64	69.08	1494
HSA-MIR-587	99.64	70.86	2611
HSA-MIR-4261	99.59	70.30	3415
HSA-MIR-5689	99.50	71.26	1154

Literature-anchored findings (GeneRIF, showing 7)

• serum alpha-L-fucosidase was identified as a useful marker for close monitoring of patients during post-treatment follow-up (PMID:18521898)
• Findings not only demonstrate an important connection between FUCA2 and the adhesion, growth, and pathogenicity of H. pylori, but also support the idea that FUCA2 is a potential target for diagnosis and therapy of H. pylori-related diseases. (PMID:19666478)
• IL-13, IL-4 and IL-5 have no effect on the expression of FUCA1 and FUCA2, but its expression is upregulated by IFN-gamma, a Th1 cytokine. (PMID:24469468)
• Genetic polymorphisms within the FUCA2 and IL18 gene regions are also associated with diastolic function in SCD, likely by affecting expression levels of the genes (PMID:27636371)
• FUCA2 Is a Prognostic Biomarker and Correlated With an Immunosuppressive Microenvironment in Pan-Cancer. (PMID:34745134)
• Cancer-associated adipocytes release FUCA2 to promote aggressiveness in TNBC. (PMID:34935631)
• FUCA2 and TSTA3 expression in gastric cancer: candidate biomarkers of malignant transformation. (PMID:36583336)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	fuca2	ENSDARG00000044073
mus_musculus	Fuca2	ENSMUSG00000019810
rattus_norvegicus	Fuca2	ENSRNOG00000015551
drosophila_melanogaster	Fuca	FBGN0285958
caenorhabditis_elegans		WBGENE00012225

Paralogs (1): FUCA1 (ENSG00000179163)

Protein

Protein identifiers

Plasma alpha-L-fucosidase — Q9BTY2 (reviewed: Q9BTY2)

Alternative names: Alpha-L-fucoside fucohydrolase 2

All UniProt accessions (2): Q9BTY2, Q7Z6V2

UniProt curated annotations — full annotation on UniProt →

Function. Alpha-L-fucosidase is responsible for hydrolyzing the alpha-1,6-linked fucose joined to the reducing-end N-acetylglucosamine of the carbohydrate moieties of glycoproteins.

Subunit / interactions. Homotetramer.

Subcellular location. Secreted.

Similarity. Belongs to the glycosyl hydrolase 29 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9BTY2-1	1	yes
Q9BTY2-2	2

RefSeq proteins (1): NP_114409* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000933	Glyco_hydro_29	Family
IPR013780	Glyco_hydro_b	Homologous_superfamily
IPR016286	FUC_metazoa-typ	Family
IPR017853	GH_hydrolase_sf	Homologous_superfamily
IPR018526	Glyco_hydro_29_CS	Conserved_site
IPR031919	Fucosidase_C	Domain
IPR057739	Glyco_hydro_29_N	Domain

Pfam: PF01120, PF16757

Enzyme classification (BRENDA):

• EC 3.2.1.51 — alpha-L-fucosidase (BRENDA: 111 organisms, 264 substrates, 196 inhibitors, 214 Km, 120 kcat entries)

Substrate kinetics (BRENDA)

40 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
4-NITROPHENYL-ALPHA-L-FUCOPYRANOSIDE	0.02–17	72
4-NITROPHENYL ALPHA-L-FUCOPYRANOSIDE	0.0681–3.3	23
4-NITROPHENYL ALPHA-L-FUCOSIDE	0.02–0.385	22
4-METHYLUMBELLIFERYL-ALPHA-L-FUCOPYRANOSIDE	0.022–0.4	15
P-NITROPHENYL ALPHA-L-FUCOPYRANOSIDE	0.11–1.06	14
P-NITROPHENYL ALPHA-L-FUCOSIDE	0.028–2.1	9
2’-FUCOSYLLACTOSE	0.63–58	7
4-METHYLUMBELLIFERYL ALPHA-L-FUCOPYRANOSIDE	0.0484–0.85	6
ALPHA-L-FUCOSYL FLUORIDE	0.075–2.5	4
2-NITROPHENYL ALPHA-L-FUCOPYRANOSIDE	0.27–5.2	3
4-NITROPHENYL-ALPHA-L-FUCOSIDE	0.0287–5.8	3
2’-FUCOSYLLACTITOL	0.67–1.18	2
3’-FUCOSYLLACTOSE	1.25–1.9	2
4-METHYLUMBELLIFERYL-BETA-FUCOSIDE	0.0032–0.0182	2
2-CHLORO-4-NITROPHENYL ALPHA-L-FUCOPYRANOSIDE	0.063	1

Catalyzed reactions (Rhea), 1 shown:

• an alpha-L-fucoside + H2O = L-fucose + an alcohol (RHEA:12288)

UniProt features (13 total): sequence variant 3, glycosylation site 3, splice variant 2, signal peptide 1, chain 1, sequence conflict 1, site 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BTY2-F1	93.89	0.91

Functional residue map

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

Catalytic / active sites (1): 294 (may be important for catalysis)

Post-translational modifications (1): 301

Glycosylation sites (3): 171, 239, 377

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-381426	Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
R-HSA-6798695	Neutrophil degranulation
R-HSA-8957275	Post-translational protein phosphorylation

MSigDB gene sets: 154 (showing top): REACTOME_INNATE_IMMUNE_SYSTEM, GOCC_SECRETORY_GRANULE, CHIANG_LIVER_CANCER_SUBCLASS_UNANNOTATED_DN, GOBP_CARBOHYDRATE_DERIVATIVE_CATABOLIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_REGULATION_OF_BIOLOGICAL_PROCESS_INVOLVED_IN_SYMBIOTIC_INTERACTION, GOBP_CARBOHYDRATE_METABOLIC_PROCESS, GOBP_BIOLOGICAL_PROCESS_INVOLVED_IN_INTERACTION_WITH_HOST, GOBP_FUCOSE_METABOLIC_PROCESS, GOBP_MONOSACCHARIDE_METABOLIC_PROCESS, GOBP_GLYCOSYL_COMPOUND_CATABOLIC_PROCESS, GOBP_GLYCOSIDE_METABOLIC_PROCESS, GOCC_SECRETORY_VESICLE, GOCC_VESICLE_LUMEN, GOCC_ENDOPLASMIC_RETICULUM_LUMEN

GO Biological Process (5): fucose metabolic process (GO:0006004), response to bacterium (GO:0009617), glycoside catabolic process (GO:0016139), regulation of entry of bacterium into host cell (GO:2000535), carbohydrate metabolic process (GO:0005975)

GO Molecular Function (5): alpha-L-fucosidase activity (GO:0004560), protein binding (GO:0005515), fucosidase activity (GO:0015928), hydrolase activity (GO:0016787), hydrolase activity, acting on glycosyl bonds (GO:0016798)

GO Cellular Component (6): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), lysosome (GO:0005764), endoplasmic reticulum lumen (GO:0005788), azurophil granule lumen (GO:0035578), extracellular exosome (GO:0070062)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Metabolism of proteins	1
Innate Immune System	1
Post-translational protein modification	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
hexose metabolic process	1
response to other organism	1
glycoside metabolic process	1
glycosyl compound catabolic process	1
entry of bacterium into host cell	1
modulation by symbiont of entry into host	1
primary metabolic process	1
fucosidase activity	1
binding	1
hydrolase activity, hydrolyzing O-glycosyl compounds	1
catalytic activity	1
hydrolase activity	1
cellular anatomical structure	1
lytic vacuole	1
endoplasmic reticulum	1
intracellular organelle lumen	1
vacuolar lumen	1
secretory granule lumen	1
azurophil granule	1
extracellular vesicle	1

Protein interactions and networks

STRING

756 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FUCA2	LPA	P08519	693
FUCA2	PLG	P00747	663
FUCA2	GNPTG	Q9UJJ9	659
FUCA2	GLB1	P16278	637
FUCA2	AFP	P02771	598
FUCA2	GNPTAB	Q3T906	598
FUCA2	GLA	P06280	564
FUCA2	AK2	P54819	553
FUCA2	MANBA	O00462	528
FUCA2	OGA	O60502	506
FUCA2	GOLM1	Q8NBJ4	480
FUCA2	POFUT2	Q9Y2G5	477
FUCA2	GPC3	P51654	446
FUCA2	FCSK	Q8N0W3	444
FUCA2	CPB2	Q96IY4	435

IntAct

72 interactions, top by confidence:

A	B	Type	Score
FUCA2	MEOX2	psi-mi:“MI:0915”(physical association)	0.670
MEOX2	FUCA2	psi-mi:“MI:0915”(physical association)	0.670
KRTAP5-2	FUCA2	psi-mi:“MI:0915”(physical association)	0.560
GUCD1	FUCA2	psi-mi:“MI:0915”(physical association)	0.560
LCE1A	FUCA2	psi-mi:“MI:0915”(physical association)	0.560
HOXA1	FUCA2	psi-mi:“MI:0915”(physical association)	0.560
VWC2	FUCA2	psi-mi:“MI:0915”(physical association)	0.560
LCE1E	FUCA2	psi-mi:“MI:0915”(physical association)	0.560
KRTAP4-12	FUCA2	psi-mi:“MI:0915”(physical association)	0.560
PIN1	FUCA2	psi-mi:“MI:0915”(physical association)	0.560
NUFIP2	FUCA2	psi-mi:“MI:0915”(physical association)	0.560
WNT11	FUCA2	psi-mi:“MI:0915”(physical association)	0.560
	FUCA2	psi-mi:“MI:0915”(physical association)	0.560
LCE1B	FUCA2	psi-mi:“MI:0915”(physical association)	0.560
TNPO2	FUCA2	psi-mi:“MI:0915”(physical association)	0.560
LCE4A	FUCA2	psi-mi:“MI:0915”(physical association)	0.560
KRTAP5-3	FUCA2	psi-mi:“MI:0915”(physical association)	0.560
FUCA2	HSPA5	psi-mi:“MI:0914”(association)	0.530
NFIL3	STK40	psi-mi:“MI:0914”(association)	0.530
FBXO2	TMEM131L	psi-mi:“MI:0914”(association)	0.530
FUCA2	GPR37	psi-mi:“MI:0915”(physical association)	0.370
FUCA2	GPRC5B	psi-mi:“MI:0915”(physical association)	0.370
FUCA2		psi-mi:“MI:0915”(physical association)	0.370
M2	IPO5	psi-mi:“MI:0914”(association)	0.350
HSCB	RBP5	psi-mi:“MI:0914”(association)	0.350
CUL3	PXDNL	psi-mi:“MI:0914”(association)	0.350
FUCA1	TIPRL	psi-mi:“MI:0914”(association)	0.350
FUCA2	UQCRH	psi-mi:“MI:0914”(association)	0.350

BioGRID (58): MEOX2 (Two-hybrid), MAN2B2 (Affinity Capture-MS), CLDN12 (Affinity Capture-MS), UQCRH (Affinity Capture-MS), FUCA2 (Affinity Capture-MS), HSPA5 (Affinity Capture-MS), CANX (Affinity Capture-MS), NAT14 (Affinity Capture-MS), RAB21 (Affinity Capture-MS), TVP23C (Affinity Capture-MS), WNT11 (Two-hybrid), TNPO2 (Two-hybrid), HOXA1 (Two-hybrid), NUFIP2 (Two-hybrid), PIN1 (Two-hybrid)

ESM2 similar proteins: A0A2I4HXH5, A5D6U8, B3A0N5, B6EWW8, E0D877, F8S0Z7, O00462, O35409, P05089, P15693, P19492, P21588, P21589, P29240, P31422, P42263, P49614, P49900, P50635, P52307, P70627, P83456, P83852, Q05927, Q14832, Q1ZZH1, Q29444, Q2KJ64, Q4FZV0, Q561R9, Q5R979, Q5RAL3, Q5RFI5, Q5TVM9, Q5XGR8, Q61503, Q641Z7, Q6AYS4, Q6PCE3, Q8CAA7

Diamond homologs: C3YWU0, P04066, P10901, P17164, P48300, P49713, Q2KIM0, Q5RFI5, Q60HF8, Q6AYS4, Q7XUR3, Q8GW72, Q99KR8, Q99LJ1, Q9BTY2, Q9VTJ4

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 50 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Keratinization	6	11.5×	2e-03

GO biological processes:

GO term	Partners	Fold	FDR
ERAD pathway	5	21.1×	1e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	63
Likely benign	4
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

1033 predictions. Top by Δscore:

Variant	Effect	Δscore
6:143507231:ACTT:A	donor_loss	1.0000
6:143507232:CTTA:C	donor_loss	1.0000
6:143507233:TTAC:T	donor_loss	1.0000
6:143507234:TACCT:T	donor_loss	1.0000
6:143507235:A:AT	donor_loss	1.0000
6:143507421:CCAC:C	acceptor_gain	1.0000
6:143507422:CACC:C	acceptor_gain	1.0000
6:143507423:ACC:A	acceptor_loss	1.0000
6:143507426:T:A	acceptor_loss	1.0000
6:143511407:TCACC:T	donor_loss	1.0000
6:143511408:CACC:C	donor_loss	1.0000
6:143511409:A:AC	donor_gain	1.0000
6:143511409:ACC:A	donor_loss	1.0000
6:143511410:C:CC	donor_gain	1.0000
6:143511450:C:CA	donor_gain	1.0000
6:143511451:C:A	donor_gain	1.0000
6:143501931:CCA:C	donor_gain	0.9900
6:143501931:CCACA:C	donor_gain	0.9900
6:143502561:CTGGG:C	acceptor_gain	0.9900
6:143502566:C:CC	acceptor_gain	0.9900
6:143503910:CACCT:C	donor_loss	0.9900
6:143504108:C:CT	acceptor_gain	0.9900
6:143507230:GACTT:G	donor_loss	0.9900
6:143507235:A:AC	donor_gain	0.9900
6:143507236:C:CC	donor_gain	0.9900
6:143507236:CCTT:C	donor_gain	0.9900
6:143507420:ACCAC:A	acceptor_gain	0.9900
6:143507421:CCACC:C	acceptor_gain	0.9900
6:143507422:CAC:C	acceptor_gain	0.9900
6:143511420:TCGC:T	donor_gain	0.9900

AlphaMissense

3065 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:143502436:G:C	C294W	0.993
6:143502531:A:G	W263R	0.993
6:143502531:A:T	W263R	0.993
6:143502447:A:G	W291R	0.991
6:143502447:A:T	W291R	0.991
6:143502011:A:G	W359R	0.990
6:143502011:A:T	W359R	0.990
6:143502078:A:C	N336K	0.990
6:143502078:A:T	N336K	0.990
6:143502414:A:G	W302R	0.990
6:143502414:A:T	W302R	0.990
6:143502445:C:A	W291C	0.990
6:143502445:C:G	W291C	0.990
6:143502533:C:G	R262P	0.989
6:143503989:A:G	W226R	0.989
6:143503989:A:T	W226R	0.989
6:143502028:A:G	L353P	0.988
6:143502412:C:A	W302C	0.988
6:143502412:C:G	W302C	0.988
6:143502538:A:C	N260K	0.988
6:143502538:A:T	N260K	0.988
6:143507247:T:A	K134N	0.988
6:143507247:T:G	K134N	0.988
6:143507300:A:G	W117R	0.988
6:143507300:A:T	W117R	0.988
6:143511454:A:G	W61R	0.988
6:143511454:A:T	W61R	0.988
6:143502529:C:A	W263C	0.987
6:143502529:C:G	W263C	0.987
6:143507248:T:A	K134I	0.987

dbSNP variants (sampled 300 via entrez): RS1000234278 (6:143495092 G>A), RS1000303499 (6:143502424 G>T), RS1000433619 (6:143508272 A>G), RS1000582360 (6:143497957 G>A,C), RS1000605440 (6:143501260 C>T), RS1000683933 (6:143511236 G>T), RS1000734909 (6:143504670 A>G), RS1000766449 (6:143505045 T>A,C), RS1001057842 (6:143498439 T>C), RS1001245711 (6:143495007 G>A), RS1001363105 (6:143494677 G>C), RS1001428369 (6:143501862 T>A,C,G), RS1001837053 (6:143500231 G>A), RS1001909626 (6:143501750 A>G), RS1001997684 (6:143512508 C>T)

Disease associations

OMIM: gene MIM:136820 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST009597_262	Multiple sclerosis	1.000000e-10

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL2271 (SINGLE PROTEIN)

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

ChEMBL bioactivities

2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
8.01	Ki	9.8	nM	DEOXYFUCONOJIRIMYCIN
7.95	Ki	11.3	nM	CHEMBL69294

CTD chemical–gene interactions

20 total (human), top 20 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Tobacco Smoke Pollution	affects expression, increases expression	2
aristolochic acid I	increases expression	1
potassium chromate(VI)	increases expression, affects cotreatment	1
epigallocatechin gallate	affects cotreatment, increases expression	1
Grape Seed Proanthocyanidins	decreases expression, affects cotreatment	1
2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide	decreases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Benzo(a)pyrene	decreases methylation	1
Catechin	affects cotreatment, decreases expression	1
Diethylstilbestrol	increases expression	1
Ivermectin	decreases expression	1
Perfume	increases expression	1
Phenobarbital	affects expression	1
Plant Extracts	affects cotreatment, increases expression	1
Smoke	decreases expression	1
Tretinoin	increases expression	1
Valproic Acid	decreases expression	1
Particulate Matter	decreases expression, increases abundance	1

ChEMBL screening assays

2 unique, capped per target: 2 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL649722	Binding	Tested for inhibitory activity against alpha-L-fucosidase from solubilised human neutrophils	Synthesis of and glycosidase inhibition by -l-homofuconojirimycin — Bioorg Med Chem Lett

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B2XC	Abcam HEK293T FUCA2 KO	Transformed cell line	Female

Clinical trials (associated diseases)

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