ITLN1

Summary

ITLN1 (intelectin 1, HGNC:18259) is a protein-coding gene on chromosome 1q23.3, encoding Intelectin-1 (Q8WWA0). Lectin that specifically recognizes microbial carbohydrate chains in a calcium-dependent manner.

Enables calcium ion binding activity; identical protein binding activity; and oligosaccharide binding activity. Involved in positive regulation of D-glucose import; positive regulation of protein phosphorylation; and protein homotrimerization. Located in extracellular exosome. Part of receptor complex.

Source: NCBI Gene 55600 — RefSeq curated summary.

At a glance

• GWAS associations: 6
• Clinical variants (ClinVar): 60 total
• MANE Select transcript: NM_017625

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18259
Approved symbol	ITLN1
Name	intelectin 1
Location	1q23.3
Locus type	gene with protein product
Status	Approved
Aliases	ITLN, FLJ20022, LFR, HL-1, hIntL
Ensembl gene	ENSG00000179914
Ensembl biotype	protein_coding
OMIM	609873
Entrez	55600

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 9 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000326245, ENST00000464077, ENST00000487531, ENST00000896872, ENST00000896873, ENST00000896874, ENST00000896875, ENST00000960625, ENST00000960626, ENST00000960627, ENST00000960628

RefSeq mRNA: 1 — MANE Select: NM_017625 NM_017625

CCDS: CCDS1211

Canonical transcript exons

ENST00000326245 — 8 exons

Exon	Start	End
ENSE00001288318	160879311	160879414
ENSE00001288357	160883428	160883526
ENSE00001288370	160876540	160876816
ENSE00001288376	160884820	160884883
ENSE00001344230	160885061	160885180
ENSE00002325623	160881957	160882204
ENSE00003542078	160881154	160881312
ENSE00003682959	160880588	160880708

Expression profiles

Bgee: expression breadth ubiquitous, 164 present calls, max score 99.88.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.7553 / max 244.2220, expressed in 103 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
15549	0.6639	87
15550	0.0527	22
15548	0.0303	20
15551	0.0083	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
parietal pleura	UBERON:0002400	99.88	gold quality
ileal mucosa	UBERON:0000331	99.76	gold quality
pericardium	UBERON:0002407	99.75	gold quality
mucosa of sigmoid colon	UBERON:0004993	99.60	gold quality
germinal epithelium of ovary	UBERON:0001304	99.45	gold quality
rectum	UBERON:0001052	98.45	gold quality
colonic mucosa	UBERON:0000317	97.39	gold quality
mucosa of transverse colon	UBERON:0004991	97.16	gold quality
jejunal mucosa	UBERON:0000399	95.82	gold quality
cardiac muscle of right atrium	UBERON:0003379	94.02	gold quality
duodenum	UBERON:0002114	93.60	gold quality
right coronary artery	UBERON:0001625	92.34	gold quality
omental fat pad	UBERON:0010414	91.13	gold quality
peritoneum	UBERON:0002358	91.00	gold quality
vena cava	UBERON:0004087	90.86	gold quality
popliteal artery	UBERON:0002250	88.99	gold quality
tibial artery	UBERON:0007610	88.92	gold quality
adipose tissue of abdominal region	UBERON:0007808	88.38	gold quality
transverse colon	UBERON:0001157	88.28	gold quality
small intestine Peyer’s patch	UBERON:0003454	87.51	gold quality
small intestine	UBERON:0002108	87.08	gold quality
colonic epithelium	UBERON:0000397	87.01	gold quality
vermiform appendix	UBERON:0001154	87.01	gold quality
adult organism	UBERON:0007023	86.27	gold quality
visceral pleura	UBERON:0002401	85.61	gold quality
coronary artery	UBERON:0001621	84.79	gold quality
caecum	UBERON:0001153	84.66	gold quality
left coronary artery	UBERON:0001626	83.31	gold quality
aorta	UBERON:0000947	82.92	gold quality
intestine	UBERON:0000160	82.44	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-MTAB-8410	yes	3436.69
E-GEOD-125970	yes	1733.32
E-HCAD-9	yes	15.54
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

23 targeting ITLN1, 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-3143	99.93	71.96	3104
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-765	99.84	68.24	2442
HSA-MIR-1273H-5P	99.77	66.32	2471
HSA-MIR-11181-3P	99.75	66.38	2205
HSA-MIR-30B-3P	99.70	65.76	2325
HSA-MIR-3689A-3P	99.70	65.73	2306
HSA-MIR-3689B-3P	99.70	65.71	2311
HSA-MIR-3689C	99.70	65.71	2311
HSA-MIR-6779-5P	99.70	65.76	2363
HSA-MIR-7106-5P	99.53	67.47	3574
HSA-MIR-543	99.52	69.03	2595
HSA-MIR-4727-5P	99.23	67.55	1154
HSA-MIR-6738-3P	99.03	67.14	1326
HSA-MIR-92A-1-5P	98.28	64.51	631
HSA-MIR-4769-3P	97.95	68.17	1002
HSA-MIR-6817-5P	97.95	67.86	1026
HSA-MIR-450B-3P	97.56	66.12	512
HSA-MIR-769-3P	97.06	64.83	464
HSA-MIR-3189-3P	96.80	66.34	896
HSA-MIR-5702	96.68	68.21	958
HSA-MIR-6861-5P	96.23	67.19	800
HSA-MIR-555	95.92	65.25	564

Literature-anchored findings (GeneRIF, showing 40)

• Intelectin is consistently and highly overexpressed in a proportion of mesothelioma and gastrointestinal malignancies at the protein level (PMID:15777968)
• Review focuses on current knowledge of the structure and function of mammalian lactoferrin receptors, mainly the first cloned Lf receptor that has been shown to be expressed in infant small intestine at high levels but also in virtually all other tissues. (PMID:16261254)
• Omentin might be a new adipocytokine playing a role in the defense against intestinal bacterial translocation in the context of Crohn’s disease. (PMID:16386808)
• Omentin increased Akt phosphorylation in the absence and presence of insulin. In conclusion, omentin is a new adipokine that is expressed in omental adipose tissue in humans and may regulate insulin action. (PMID:16531507)
• Val109Asp sequence variation is more a single nucleotide polymorphism than a real disease-causing mutation in type 2 diabetes or chronic inflammatory bowel disease. (PMID:17295929)
• Blood levels are not changed after a glucose tolerance test in normal adults. (PMID:17311679)
• Decreased omentin levels are associated with increasing obesity and insulin resistance and may be predictive of problems associted with obesity. (PMID:17329619)
• Omentin-1(ITLN1) is downregulated by insulin and glucose which may explain the decreased omentin-1 levels observed in our overweight women with polycystic ovary syndrome. (PMID:18174521)
• intelectin 1 plays a role in defense against bacteria, its down-regulation in response to cigarette smoking is another example of the immunomodulatory effects of smoking on the immune system (PMID:18832735)
• we have found evidence of a possible association between a single nucleotide polymorphism in intelectin-1 and asthma susceptibility that requires to be confirmed by independent studies (PMID:19000584)
• intelectin is a host defense lectin that assists phagocytic clearance of microorganisms. (PMID:19179460)
• miR-584 contributes to the post-transcriptional expression of lactoferrin receptor during the perinatal period. (PMID:19665576)
• Serum omentin-1 levels were decreased in impaired glucose regulation subjects. Lack of omentin-1 may contribute to the development of insulin resistance and type 2 diabetes. (PMID:20129687)
• Higher omentin concentrations in the fetus may be crucial to enhance a growth-promoting effect (PMID:20488498)
• Even though the expression of NPY, omentin and visfatin was comparable between obese individuals and controls, we have to consider differences in the total production rate of adipose tissue-derived factors (PMID:20823688)
• Increases in omentin-1(ITLN1) levels may play a role but are not sufficient to explain the decreased inflammatory and angiogenic effects of sera from metformin-treated PCOS women. (PMID:20852028)
• Omentin inhibits osteoblast differentiation of calcifying vascular smooth muscle cells through the PI3K/Akt pathway. (PMID:21082206)
• there is such a close connection between serum omentin and adiponectin levels that regulation of omentin may be dependent on adiponectin. (PMID:21374544)
• Letter: serum omentin levels were significantly elevated in patients with Kawasaki disease. (PMID:21442174)
• Omentin-1 is closely related to MetS and might play an important role in atherosclerosis in MetS patients. (PMID:21497934)
• The present results demonstrate for the first time that omentin plays an anti-inflammatory role by preventing the TNF-alpha-induced COX-2 expression in vascular endothelial cells. (PMID:21514279)
• Serum omentin-1 levels were lower in patients with acute coronary syndrome (ACS) or stable angina pectoris (SAP) compared with controls (ACS, 113.08+/-61.43 ng/mL; SAP, 155.41+/-66.89 ng/mL; control, 254.00+/-72.9 ng/mL; P<0.01). (PMID:21602837)
• Circulating omentin-1 in prepubertal children may be a early biological marker of insulin resistance, altered adipose-tissue metabolism, and hypertension, hypertriglyceridemia, type 2 diabetes, and/or obesity. (PMID:21720428)
• Omentin-1 ameliorates arterial calcification and bone loss in vivo through the regulation of the RANK signalling pathway in osteoprotegerin-deficient mice. (PMID:21750093)
• circulating omentin levels independently and negatively associate with carotid intima-media thickness (PMID:21814208)
• A significantly lower level of plasma omentin-1 is observed in non-obese women with polycystic ovary syndrome and normal glucose tolerance compared with body mass index- abd homeostasis model-matched controls. (PMID:21865408)
• Low levels of omentin are closely linked with the presence of coronary artery disease and that omentin serves as a novel biomarker for CAD. (PMID:21925659)
• omentin-1 serum levels are correlated with BMD at the femoral neck and the serum levels of osteocalcin and osteopontin in MS patients (PMID:21935388)
• Our study shows that omentin is significantly higher in juvenile idiopathic arthritis patients in comparison with healthy controls. (PMID:22032341)
• omentin promotes endothelial cell function and revascularization in response to ischemia through its ability to stimulate an Akt-eNOS signaling pathway (PMID:22081609)
• The aberrant ITLN-1 expression in gastric cancer is correlated with clinicopathological features and may be a useful prognostic factor for predicting the outcomes of gastric cancer patients. (PMID:22083213)
• Circulating omentin-1 level was independently correlated with arterial stiffness and carotid plaque in type 2 diabetes, even after adjusting for other cardiovascular risk factors and detailed medication history. (PMID:22108456)
• Synovial fluid omentin-1 levels decreased significantly as the Kellgren-Lawrence grades increased with radiographic severity of knee osteoarthritis. (PMID:22222234)
• the study demonstrates that variants of SLAMF1 and ITLN1, both implicated in inflammation, are associated with type 2 diabetes in Indians. (PMID:22277902)
• Omentin plays an anti-inflammatory role by preventing the TNF-alpha-induced VCAM-1 expression in smooth muscle cells (PMID:22554771)
• In a Portuguese population, SNPs at three autophagy-related genes, ATG16L1, IRGM, and ITLN1, contribute to predict Crohn’s ileal or ileocolonic disease, involvement of the upper digestive tract, and response to treatment. (PMID:22573572)
• Omentin-1/ITLN1 may exert a negative effect on bone mass by inhibiting bone formation in girls with anorexia nervosa. (PMID:22714099)
• ITLN1 in combination with other known markers, such as CRP, could be evaluated as a panel of biomarkers of POAD. (PMID:22721676)
• Pleural intelectin-1 could be a useful diagnostic marker for MPM with applications in histopathological identification of MPM. (PMID:22768319)
• Intelectin-1 is expressed in human sinus mucosa and is increased in patients with nasal polyps. (PMID:22801013)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	ITLN1	ENSDARG00000095082
danio_rerio	si:ch211-194p6.7	ENSDARG00000105598
mus_musculus	Itln1	ENSMUSG00000038209
rattus_norvegicus	Itln1	ENSRNOG00000004678

Paralogs (1): ITLN2 (ENSG00000158764)

Protein

Protein identifiers

Intelectin-1 — Q8WWA0 (reviewed: Q8WWA0)

Alternative names: Endothelial lectin HL-1, Galactofuranose-binding lectin, Intestinal lactoferrin receptor, Omentin

All UniProt accessions (1): Q8WWA0

UniProt curated annotations — full annotation on UniProt →

Function. Lectin that specifically recognizes microbial carbohydrate chains in a calcium-dependent manner. Binds to microbial glycans that contain a terminal acyclic 1,2-diol moiety, including beta-linked D-galactofuranose (beta-Galf), D-phosphoglycerol-modified glycans, D-glycero-D-talo-oct-2-ulosonic acid (KO) and 3-deoxy-D-manno-oct-2-ulosonic acid (KDO). Binds to glycans from Gram-positive and Gram-negative bacteria, including K.pneumoniae, S.pneumoniae, Y.pestis, P.mirabilis and P.vulgaris. Does not bind human glycans. Probably plays a role in the defense system against microorganisms. May function as adipokine that has no effect on basal glucose uptake but enhances insulin-stimulated glucose uptake in adipocytes. Increases AKT phosphorylation in the absence and presence of insulin. May interact with lactoferrin/LTF and increase its uptake, and may thereby play a role in iron absorption.

Subunit / interactions. Homotrimer; disulfide-linked. May interact with LTF.

Subcellular location. Cell membrane. Secreted.

Tissue specificity. Highly expressed in omental adipose tissue where it is found in stromal vascular cells but not in fat cells but is barely detectable in subcutaneous adipose tissue (at protein level). Highly expressed in the small intestine. Also found in the heart, testis, colon, salivary gland, skeletal muscle, pancreas and thyroid and, to a lesser degree, in the uterus, spleen, prostate, lymph node and thymus.

Post-translational modifications. N-glycosylated.

RefSeq proteins (1): NP_060095* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002181	Fibrinogen_a/b/g_C_dom	Domain
IPR014716	Fibrinogen_a/b/g_C_1	Homologous_superfamily
IPR036056	Fibrinogen-like_C	Homologous_superfamily

UniProt features (58 total): binding site 13, helix 13, strand 10, disulfide bond 6, turn 6, sequence variant 2, mutagenesis site 2, signal peptide 1, chain 1, lipid moiety-binding region 1, glycosylation site 1, propeptide 1, domain 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
6USC	X-RAY DIFFRACTION	1.59
4WMY	X-RAY DIFFRACTION	1.6
4WMQ	X-RAY DIFFRACTION	1.8

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8WWA0-F1	92.21	0.88

Functional residue map

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

Ligand- & substrate-binding residues (13): 133; 260; 262–263; 262; 274; 274; 282; 86; 87; 89; 92; 97 …

Post-translational modifications (1): 298

Disulfide bonds (6): 31, 41–70, 48, 94–280, 199–259, 251–265

Glycosylation sites (1): 163

Mutagenesis-validated functional residues (2):

Position	Phenotype
31	forms mainly monomers; when associated with s-48.
48	forms mainly dimers. forms mainly monomers; when associated with s-31.

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-6803157	Antimicrobial peptides
R-HSA-168249	Innate Immune System
R-HSA-168256	Immune System

MSigDB gene sets: 102 (showing top): GOBP_CARBOHYDRATE_TRANSPORT, REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_REGULATION_OF_PHOSPHORYLATION, GOBP_POSITIVE_REGULATION_OF_TRANSMEMBRANE_TRANSPORT, GOBP_PROTEIN_TRIMERIZATION, GOBP_POSITIVE_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS, GOBP_D_GLUCOSE_IMPORT, GOCC_APICAL_PLASMA_MEMBRANE, GOBP_PROTEIN_HOMOOLIGOMERIZATION, GOBP_POSITIVE_REGULATION_OF_TRANSPORT, GOBP_REGULATION_OF_TRANSPORT, GOBP_TRANSMEMBRANE_TRANSPORT, GOBP_REGULATION_OF_PHOSPHORUS_METABOLIC_PROCESS, GOBP_REGULATION_OF_TRANSMEMBRANE_TRANSPORT, GOCC_CELL_PROJECTION_MEMBRANE

GO Biological Process (4): positive regulation of protein phosphorylation (GO:0001934), response to nematode (GO:0009624), positive regulation of D-glucose import across plasma membrane (GO:0046326), protein homotrimerization (GO:0070207)

GO Molecular Function (6): calcium ion binding (GO:0005509), identical protein binding (GO:0042802), oligosaccharide binding (GO:0070492), protein binding (GO:0005515), carbohydrate binding (GO:0030246), metal ion binding (GO:0046872)

GO Cellular Component (9): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), brush border membrane (GO:0031526), signaling receptor complex (GO:0043235), membrane raft (GO:0045121), extracellular exosome (GO:0070062), side of membrane (GO:0098552), plasma membrane (GO:0005886), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Innate Immune System	1
Immune System	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
binding	2
membrane	2
regulation of protein phosphorylation	1
protein phosphorylation	1
positive regulation of protein modification process	1
positive regulation of phosphorylation	1
response to other organism	1
positive regulation of D-glucose transmembrane transport	1
regulation of D-glucose import across plasma membrane	1
D-glucose import across plasma membrane	1
protein homooligomerization	1
protein trimerization	1
metal ion binding	1
protein binding	1
carbohydrate binding	1
cation binding	1
brush border	1
apical plasma membrane	1
cell projection membrane	1
protein-containing complex	1
membrane microdomain	1
extracellular vesicle	1
leaflet of membrane bilayer	1
cell periphery	1

Protein interactions and networks

STRING

890 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ITLN1	LTF	P02788	972
ITLN1	SERPINA12	Q8IW75	840
ITLN1	RARRES2	Q99969	790
ITLN1	NAMPT	P43490	774
ITLN1	RETN	Q9HD89	773
ITLN1	RETNLB	Q9BQ08	772
ITLN1	ADIPOQ	Q15848	771
ITLN1	LEP	P41159	718
ITLN1	APLN	Q9ULZ1	697
ITLN1	RBP4	P02753	664
ITLN1	INS	P01308	592
ITLN1	CRP	P02741	507
ITLN1	IL6	P05231	507
ITLN1	ICAM1	P05362	481
ITLN1	CFD	P00746	481

IntAct

13 interactions, top by confidence:

A	B	Type	Score
RACK1	RIOK3	psi-mi:“MI:0914”(association)	0.640
ITLN1	ITLN1	psi-mi:“MI:0408”(disulfide bond)	0.560
ITLN1	HSPA5	psi-mi:“MI:0914”(association)	0.530
TMEM207	ITLN1	psi-mi:“MI:0915”(physical association)	0.520
	CD5L	psi-mi:“MI:0915”(physical association)	0.400
	LECT2	psi-mi:“MI:0915”(physical association)	0.400
ITLN1	TIPRL	psi-mi:“MI:0914”(association)	0.350
ITLN1	RAB29	psi-mi:“MI:0914”(association)	0.350

BioGRID (71): ITLN2 (Affinity Capture-MS), NACC1 (Affinity Capture-MS), HSPA5 (Affinity Capture-MS), ENDOG (Affinity Capture-MS), DNAJC12 (Affinity Capture-MS), RNASEH2A (Affinity Capture-MS), RRAS (Affinity Capture-MS), GSK3B (Affinity Capture-MS), PICALM (Affinity Capture-MS), SP3 (Affinity Capture-MS), ITLN2 (Affinity Capture-MS), NACC1 (Affinity Capture-MS), ENDOG (Affinity Capture-MS), DNAJC12 (Affinity Capture-MS), RRAS (Affinity Capture-MS)

ESM2 similar proteins: A4GBX7, A4GCJ7, A4GCL9, A4K143, A4U6V2, A4U7A6, A8C8J4, B4URD6, B8VIU6, O56140, O88310, O89746, P03452, P03453, P09345, P0DMV4, P11132, P11135, P12590, P16060, P18875, P18876, P28730, P28731, P86928, P97259, Q08834, Q09328, Q0HD60, Q289M7, Q2F4V2, Q5PPM0, Q6DPZ9, Q6DQ15, Q6DQ18, Q6DQ19, Q6DQ20, Q6DQ21, Q6DQ22, Q6J8E7

Diamond homologs: O88310, P0DMV4, P86928, Q5PPM0, Q80ZA0, Q8WWA0, Q8WWU7

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
ITLN1	“up-regulates activity”	AKT
LTF	“up-regulates activity”	ITLN1	binding
PAMPs	“up-regulates activity”	ITLN1	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	47
Likely benign	4
Benign	5

Top pathogenic / likely-pathogenic (0)

SpliceAI

1286 predictions. Top by Δscore:

Variant	Effect	Δscore
1:160879309:A:AC	donor_gain	1.0000
1:160879310:C:CC	donor_gain	1.0000
1:160879310:CGTG:C	donor_gain	1.0000
1:160879412:CCC:C	acceptor_gain	1.0000
1:160879413:CCC:C	acceptor_gain	1.0000
1:160880580:AGACT:A	donor_loss	1.0000
1:160880581:GACT:G	donor_loss	1.0000
1:160880582:AC:A	donor_loss	1.0000
1:160880583:C:G	donor_loss	1.0000
1:160880584:T:TA	donor_loss	1.0000
1:160880586:A:AC	donor_gain	1.0000
1:160880586:ACG:A	donor_gain	1.0000
1:160880587:C:CC	donor_gain	1.0000
1:160880587:CG:C	donor_gain	1.0000
1:160880587:CGC:C	donor_gain	1.0000
1:160880587:CGCTG:C	donor_gain	1.0000
1:160880704:TATTT:T	acceptor_gain	1.0000
1:160880705:ATTT:A	acceptor_gain	1.0000
1:160880706:TTT:T	acceptor_gain	1.0000
1:160880707:TT:T	acceptor_gain	1.0000
1:160880708:TCTA:T	acceptor_loss	1.0000
1:160880709:C:CC	acceptor_gain	1.0000
1:160880710:T:C	acceptor_loss	1.0000
1:160881148:CTGTA:C	donor_loss	1.0000
1:160881149:TGTAC:T	donor_loss	1.0000
1:160881150:GTA:G	donor_loss	1.0000
1:160881151:TACC:T	donor_loss	1.0000
1:160881152:ACC:A	donor_loss	1.0000
1:160881153:C:T	donor_loss	1.0000
1:160881308:GGGTT:G	acceptor_gain	1.0000

AlphaMissense

2070 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:160881957:C:A	K135N	0.994
1:160881957:C:G	K135N	0.994
1:160881993:A:C	F123L	0.991
1:160881993:A:T	F123L	0.991
1:160881995:A:G	F123L	0.991
1:160882064:A:G	W100R	0.991
1:160882064:A:T	W100R	0.991
1:160882011:C:A	W117C	0.989
1:160882011:C:G	W117C	0.989
1:160882062:C:A	W100C	0.989
1:160882062:C:G	W100C	0.989
1:160882110:G:C	S84R	0.986
1:160882110:G:T	S84R	0.986
1:160882112:T:G	S84R	0.986
1:160881310:G:C	N136K	0.985
1:160881310:G:T	N136K	0.985
1:160882013:A:G	W117R	0.983
1:160882013:A:T	W117R	0.983
1:160882153:C:G	C70S	0.980
1:160882154:A:T	C70S	0.980
1:160876690:C:G	A306P	0.979
1:160882115:C:G	A83P	0.978
1:160876811:G:C	C265W	0.977
1:160882081:C:G	C94S	0.977
1:160882082:A:T	C94S	0.977
1:160876812:C:G	C265S	0.976
1:160876813:A:T	C265S	0.976
1:160881994:A:C	F123C	0.974
1:160876757:A:C	F283L	0.973
1:160876757:A:T	F283L	0.973

dbSNP variants (sampled 300 via entrez): RS1000096441 (1:160885737 T>C), RS1000396540 (1:160882379 C>A,T), RS1000719794 (1:160883382 A>G,T), RS1000752735 (1:160883117 C>T), RS1000985769 (1:160886633 A>C), RS1002203050 (1:160884222 G>C), RS1002232938 (1:160877911 G>A), RS1002420562 (1:160881833 G>A,T), RS1002729540 (1:160876404 T>C), RS1002876629 (1:160886182 A>T), RS1003177103 (1:160885096 A>G), RS1003206419 (1:160885428 T>C), RS1003763089 (1:160885278 T>C), RS1004462296 (1:160879532 C>G), RS1004792877 (1:160879794 A>G)

Disease associations

OMIM: gene MIM:609873 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST000207_3	Crohn’s disease	1.000000e-09
GCST000879_21	Crohn’s disease	6.000000e-07
GCST001725_36	Inflammatory bowel disease	7.000000e-09
GCST004131_64	Inflammatory bowel disease	2.000000e-08
GCST004132_83	Crohn’s disease	6.000000e-07
GCST005537_141	Chronic inflammatory diseases (ankylosing spondylitis, Crohn’s disease, psoriasis, primary sclerosing cholangitis, ulcerative colitis) (pleiotropy)	2.000000e-11

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

13 total (human), top 13 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Silicon Dioxide	decreases expression, increases expression	2
sodium arsenite	increases expression	1
CGP 52608	affects binding, increases reaction	1
Pioglitazone	increases expression	1
Acetaminophen	increases expression	1
Air Pollutants	increases abundance, increases expression	1
Allergens	increases expression	1
Benzo(a)pyrene	affects methylation	1
Hydrogen Peroxide	affects expression	1
Smoke	increases abundance, increases expression	1
Tobacco Smoke Pollution	affects expression	1
Asbestos, Crocidolite	increases expression	1
beta-Naphthoflavone	decreases expression	1

Clinical trials (associated diseases)

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