CCL1

Summary

CCL1 (C-C motif chemokine ligand 1, HGNC:10609) is a protein-coding gene on chromosome 17q12, encoding C-C motif chemokine 1 (P22362). Cytokine that is chemotactic for monocytes but not for neutrophils.

This antimicrobial gene is one of several chemokine genes clustered on the q-arm of chromosome 17. Chemokines form a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of the N-terminal cysteine residues of the mature peptide. This chemokine, a member of the CC subfamily, is secreted by activated T cells and displays chemotactic activity for monocytes but not for neutrophils. It binds to the chemokine (C-C motif) receptor 8.

Source: NCBI Gene 6346 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 7 total
• MANE Select transcript: NM_002981

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10609
Approved symbol	CCL1
Name	C-C motif chemokine ligand 1
Location	17q12
Locus type	gene with protein product
Status	Approved
Aliases	I-309, TCA3, P500, SISe
Ensembl gene	ENSG00000108702
Ensembl biotype	protein_coding
OMIM	182281
Entrez	6346

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000225842

RefSeq mRNA: 1 — MANE Select: NM_002981 NM_002981

CCDS: CCDS11282

Canonical transcript exons

ENST00000225842 — 3 exons

Exon	Start	End
ENSE00000713736	34361785	34361896
ENSE00000887560	34363086	34363233
ENSE00001017469	34360328	34360661

Expression profiles

Bgee: expression breadth broad, 52 present calls, max score 89.70.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 53.7738 / max 44119.4217, expressed in 174 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
165315	53.5827	160
165316	0.1298	29
165317	0.0613	40

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	89.70	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	87.17	gold quality
buccal mucosa cell	CL:0002336	68.54	gold quality
endothelial cell	CL:0000115	59.36	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	58.02	gold quality
sperm	CL:0000019	57.65	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	56.09	gold quality
inferior olivary complex	UBERON:0002127	55.65	gold quality
vena cava	UBERON:0004087	55.13	gold quality
nasal cavity epithelium	UBERON:0005384	55.10	gold quality
heart right ventricle	UBERON:0002080	54.58	gold quality
quadriceps femoris	UBERON:0001377	54.12	gold quality
vastus lateralis	UBERON:0001379	53.97	gold quality
epithelium of nasopharynx	UBERON:0001951	53.41	gold quality
blood vessel layer	UBERON:0004797	49.29	gold quality
choroid plexus epithelium	UBERON:0003911	48.89	gold quality
nipple	UBERON:0002030	47.80	gold quality
lateral globus pallidus	UBERON:0002476	47.35	gold quality
periodontal ligament	UBERON:0008266	47.14	gold quality
body of tongue	UBERON:0011876	47.06	gold quality
renal glomerulus	UBERON:0000074	46.86	gold quality
metanephric glomerulus	UBERON:0004736	46.77	gold quality
nephron tubule	UBERON:0001231	46.71	gold quality
biceps brachii	UBERON:0001507	46.49	gold quality
lateral nuclear group of thalamus	UBERON:0002736	46.22	gold quality
gingiva	UBERON:0001828	45.99	gold quality
skeletal muscle tissue	UBERON:0001134	45.54	gold quality
gingival epithelium	UBERON:0001949	45.17	gold quality
primary visual cortex	UBERON:0002436	45.09	gold quality
deltoid	UBERON:0001476	45.01	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.14

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AHR, BCL6, CEBPB, EGR2, IRF5, NFKB, RELB, STAT1, STAT3, STAT5A, STAT6

miRNA regulators (miRDB)

32 targeting CCL1, 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-568	99.98	69.86	2084
HSA-MIR-106A-5P	99.90	73.94	2683
HSA-MIR-17-5P	99.89	73.83	2665
HSA-MIR-20B-5P	99.88	74.01	2621
HSA-MIR-106B-5P	99.88	74.72	2795
HSA-MIR-20A-5P	99.88	74.76	2769
HSA-MIR-519D-3P	99.88	73.97	2607
HSA-MIR-526B-3P	99.88	74.06	2587
HSA-MIR-93-5P	99.88	73.98	2606
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-33A-3P	99.70	70.27	3362
HSA-MIR-6132	99.60	65.83	1554
HSA-MIR-6836-5P	99.60	65.62	1538
HSA-MIR-762	99.58	66.61	1994
HSA-MIR-6751-5P	99.56	64.99	1145
HSA-MIR-4498	99.47	67.42	2360
HSA-MIR-21-5P	99.46	70.54	1035
HSA-MIR-4786-3P	99.36	68.35	1390
HSA-MIR-590-5P	99.25	70.76	930
HSA-MIR-6803-5P	99.19	63.90	1026
HSA-MIR-6510-5P	99.14	66.59	1081
HSA-MIR-146A-3P	99.13	68.99	1881
HSA-MIR-5001-5P	99.05	66.76	1972
HSA-MIR-6794-3P	98.76	66.99	894
HSA-MIR-508-3P	98.66	69.62	887
HSA-MIR-7843-3P	98.31	67.94	803
HSA-MIR-7843-5P	98.12	65.26	1421
HSA-MIR-4446-3P	97.91	64.29	991
HSA-MIR-4632-5P	97.82	65.38	1470
HSA-MIR-5579-3P	97.00	68.81	1111

Literature-anchored findings (GeneRIF, showing 33)

• After stimulation via high-affinity FcepsilonRI, the transcriptional levels of I-309 (CCL1), MIP-1alpha (CCL3) and MIP-1beta (CCL4) were found among the 10 most increased human and mouse transcripts from approximately 12 000 genes (PMID:12393595)
• Transfected human CCL1 up-regulated ERK1/2 MAPK phosphorylation in BW5147 cells. CCL1 activates the MAPK pathway in CCR8-transfected CHO cells. (PMID:12645948)
• CCL1 is an antimicrobial protein with bacteriocidal activity against E. coli and S. aureus. (PMID:12949249)
• the axis CCL1-CCR8 links adaptive and innate immune functions that play a role in the initiation and amplification of atopic skin inflammation (PMID:15814739)
• CC chemokine ligand 1 may play a role in lymphocyte recruitment in bronchial asthma (PMID:16540498)
• Benzo(a)pyrene and an aryl hydrocarbon receptor agonist enhance activitity of te Ccl1 promoter. (PMID:16679317)
• Thus, CCL1 is a CC chemokine with a unique pattern of regulation associated with a distinct form of M2 (Type 2, M2b) monocyte activation, which participates in macrophage-dependent regulatory circuits of innate and adaptive immunity. (PMID:16735693)
• Variants in the CCL1 gene are associated with susceptibility to AEs through their potential implication in the host defense mechanisms against AEs. (PMID:16864713)
• The mechanisms underlying the mast cell-CD4-positive T lymphocyte axis is determined by mast cell-derived CCL1 and a subset of CD4-positive T cells expressing CCR8. (PMID:17641040)
• The combination of 17beta-E(2) with the environmental pollutant TCDD is involved in the pathogenesis of endometriosis via up-regulating the chemokine CCR8-I-309. (PMID:17693327)
• 6 single nucleotide polymorphisms in CCL1 were found to be associated with tuberculosis in a case-control genetic association study with 273 TB cases and 188 controls (PMID:19057661)
• serum CCL1 levels were slightly, but statistically significantly, correlated with serum IgE levels in patients with bullous pemphigoid. (PMID:19117730)
• The authors show here that PRV-gG binds to the human chemokine CL1 and several CC and CXC human chemokines with high affinity. (PMID:19776237)
• ACEI is effective in downregulating LPS-induced TNF-alpha, I-309, and IP-10, which play important roles in the pathogenesis of inflammation (PMID:21849907)
• There was a borderline association between a single nucleotide polymorphism located within the CCL1 gene and predisposition to tuberculosis using a singlepoint analysis (PMID:22147355)
• C-terminal clipping of chemokine CCL1/I-309 enhances CCR8-mediated intracellular calcium release and anti-apoptotic activity (PMID:22479563)
• CCL1, CCL26, and IgE may be associated with pruritus in cutaneous T-cell lymphoma. (PMID:22948508)
• CCL1-CCR8 interaction may play a critical role in lymphocytic recruitment in IgG4-related sclerosing cholangitis and type 1 autoimmune pancreatitis, leading to duct-centred inflammation and obliterative phlebitis. (PMID:23811304)
• These data identify a novel function for CCL1-CCR8 in metastasis and lymph node LECs as a critical checkpoint for the entry of metastases into the lymph nodes. (PMID:23878309)
• The results of the present study demonstrated that GAS5 was able to suppress bladder cancer cell proliferation, at least partially, by suppressing the expression of CCL1. (PMID:26548923)
• was to evaluate the possible association between CCL1 rs2072069 G/A or/and TLR2 rs3804099 T/C (T597C) polymorphisms and pulmonary tuberculosis (PTB) or/and tuberculous meningitis (TBM) in a sample of the Chinese adult population (PMID:26722451)
• downregulation of miR-20a-5p is caused by promoter hypermethylation. MiR-20a-5p could also suppress the production of IL-17 by targeting OSM and CCL1 production in CD4(+) T cells in patients with active VKH. (PMID:28972028)
• Chemokine (C-C motif) ligand 1 ( CCL1) is preferentially Plasma levels of CCL1 were significantly higher in patients with HAM/TSP. Minocycline inhibited the production of CCL1 in HTLV-1-infected T-cell lines. (PMID:29202792)
• Both CCL1 and CCL22 were expressed in most breast cancer tissues. CCL1 was significantly over-expressed in invasive breast cancer as compared to normal breast tissue. CCL1, but surprisingly not CCL22, showed a significant correlation with the number of tumor-infiltrating FoxP3+ Treg (PMID:30572845)
• Comparison of the chemokine profiles in the bronchoalveolar lavage fluid between IgG4-related respiratory disease and sarcoidosis: CC-chemokine ligand 1 might be involved in the pathogenesis of sarcoidosis. (PMID:31063909)
• The utility of serum C-C chemokine ligand 1 in sarcoidosis: A comparison to IgG4-related disease. (PMID:32447247)
• CCL21 activation of the MALAT1/SRSF1/mTOR axis underpins the development of gastric carcinoma. (PMID:34001131)
• Hsa_circ_0134111 promotes osteoarthritis progression by regulating miR-224-5p/CCL1 interaction. (PMID:34413269)
• Serum Biomarker Profile Including CCL1, CXCL10, VEGF, and Adenosine Deaminase Activity Distinguishes Active From Remotely Acquired Latent Tuberculosis. (PMID:34691031)
• Monocyte secretory profiling in a clinical and MEFV genotype-characterized cohort of Danish familial Mediterranean fever patients: diagnostic potential of CCL1 and CXCL1. (PMID:35258407)
• Identification of the prognostic value of Th1/Th2 ratio and a novel prognostic signature in basal-like breast cancer. (PMID:36694223)
• Tandem bispecific CD123/CLL-1 CAR-T cells exhibit specific cytolytic effector functions against human acute myeloid leukaemia. (PMID:37712633)
• Reduced chemokine C-C motif ligand 1 expression may negatively regulate colorectal cancer progression at liver metastatic sites. (PMID:38506205)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
danio_rerio	ccl35.2	ENSDARG00000070378
danio_rerio	ccl35.1	ENSDARG00000103466

Paralogs (26): CX3CL1 (ENSG00000006210), CCL26 (ENSG00000006606), CCL22 (ENSG00000102962), CCL17 (ENSG00000102970), CCL24 (ENSG00000106178), CCL7 (ENSG00000108688), CCL2 (ENSG00000108691), CCL8 (ENSG00000108700), CCL20 (ENSG00000115009), CCL25 (ENSG00000131142), CCL21 (ENSG00000137077), XCL1 (ENSG00000143184), XCL2 (ENSG00000143185), CCL11 (ENSG00000172156), CCL19 (ENSG00000172724), CCL13 (ENSG00000181374), CCL5 (ENSG00000271503), CCL23 (ENSG00000274736), CCL16 (ENSG00000275152), CCL4 (ENSG00000275302), CCL18 (ENSG00000275385), CCL15 (ENSG00000275718), CCL4L2 (ENSG00000276070), CCL3L3 (ENSG00000276085), CCL14 (ENSG00000276409), CCL3 (ENSG00000277632)

Protein

Protein identifiers

C-C motif chemokine 1 — P22362 (reviewed: P22362)

Alternative names: Small-inducible cytokine A1, T lymphocyte-secreted protein I-309

All UniProt accessions (1): P22362

UniProt curated annotations — full annotation on UniProt →

Function. Cytokine that is chemotactic for monocytes but not for neutrophils. Binds to CCR8.

Subunit / interactions. Monomer.

Subcellular location. Secreted.

Induction. By phorbol myristate acetate (PMA).

Similarity. Belongs to the intercrine beta (chemokine CC) family.

RefSeq proteins (1): NP_002972* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000827	Chemokine_CC_CS	Conserved_site
IPR001811	Chemokine_IL8-like_dom	Domain
IPR036048	Interleukin_8-like_sf	Homologous_superfamily
IPR039809	Chemokine_b/g/d	Family

Pfam: PF00048

UniProt features (14 total): strand 5, helix 3, disulfide bond 3, signal peptide 1, chain 1, glycosylation site 1

Structure

Experimental structures (PDB)

4 structures.

PDB	Method	Resolution (Å)
4OIJ	X-RAY DIFFRACTION	2
4OIK	X-RAY DIFFRACTION	2.1
8U1U	ELECTRON MICROSCOPY	3.1
1EL0	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P22362-F1	86.36	0.59

Antibody-complex structures (SAbDab): 1 — 8U1U

Functional residue map

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

Disulfide bonds (3): 33–57, 34–73, 49–91

Glycosylation sites (1): 52

Function

Pathways and Gene Ontology

Reactome pathways

8 pathways

ID	Pathway
R-HSA-380108	Chemokine receptors bind chemokines
R-HSA-418594	G alpha (i) signalling events
R-HSA-162582	Signal Transduction
R-HSA-372790	Signaling by GPCR
R-HSA-373076	Class A/1 (Rhodopsin-like receptors)
R-HSA-375276	Peptide ligand-binding receptors
R-HSA-388396	GPCR downstream signalling
R-HSA-500792	GPCR ligand binding

MSigDB gene sets: 194 (showing top): GOBP_ANTIMICROBIAL_HUMORAL_RESPONSE, GOBP_MYELOID_LEUKOCYTE_MIGRATION, GOBP_CELL_CHEMOTAXIS, GOBP_INFLAMMATORY_RESPONSE, GOBP_RESPONSE_TO_PEPTIDE, MODULE_64, GOBP_POSITIVE_REGULATION_OF_CYTOKINE_PRODUCTION, GAURNIER_PSMD4_TARGETS, GOBP_REGULATION_OF_LEUKOCYTE_MIGRATION, GOBP_LEUKOCYTE_CHEMOTAXIS, GOBP_REGULATION_OF_MONONUCLEAR_CELL_MIGRATION, GOBP_POSITIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS, GOBP_TAXIS, GOBP_LEUKOCYTE_MIGRATION, REACTOME_PEPTIDE_LIGAND_BINDING_RECEPTORS

GO Biological Process (14): intracellular calcium ion homeostasis (GO:0006874), chemotaxis (GO:0006935), inflammatory response (GO:0006954), signal transduction (GO:0007165), positive regulation of cytosolic calcium ion concentration (GO:0007204), viral process (GO:0016032), positive regulation of cell migration (GO:0030335), positive regulation of interleukin-17 production (GO:0032740), eosinophil chemotaxis (GO:0048245), positive regulation of inflammatory response (GO:0050729), antimicrobial humoral immune response mediated by antimicrobial peptide (GO:0061844), chemokine-mediated signaling pathway (GO:0070098), positive regulation of monocyte chemotaxis (GO:0090026), immune response (GO:0006955)

GO Molecular Function (3): chemokine activity (GO:0008009), CCR chemokine receptor binding (GO:0048020), cytokine activity (GO:0005125)

GO Cellular Component (2): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615)

Reactome top-level categories

Rollup of top-6 pathways:

Category	Pathways
Signaling by GPCR	2
Peptide ligand-binding receptors	1
GPCR downstream signalling	1
Signal Transduction	1
GPCR ligand binding	1
Class A/1 (Rhodopsin-like receptors)	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
chemokine receptor binding	2
intracellular monoatomic cation homeostasis	1
calcium ion homeostasis	1
response to chemical	1
taxis	1
defense response	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
regulation of biological quality	1
biological_process	1
cell migration	1
regulation of cell migration	1
positive regulation of cell motility	1
positive regulation of cytokine production	1
interleukin-17 production	1
regulation of interleukin-17 production	1
granulocyte chemotaxis	1
eosinophil migration	1
inflammatory response	1
positive regulation of defense response	1
positive regulation of response to external stimulus	1
regulation of inflammatory response	1
antimicrobial humoral response	1
G protein-coupled receptor signaling pathway	1
cytokine-mediated signaling pathway	1
cellular response to chemokine	1
monocyte chemotaxis	1
positive regulation of leukocyte chemotaxis	1
positive regulation of mononuclear cell migration	1
regulation of monocyte chemotaxis	1
immune system process	1
response to stimulus	1
cytokine activity	1
cell chemotaxis	1
receptor ligand activity	1
cellular anatomical structure	1

Protein interactions and networks

STRING

964 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CCL1	CCR8	P51685	997
CCL1	MNAT1	P51948	953
CCL1	CCR5	P51681	934
CCL1	CCR1	P32246	896
CCL1	CCL5	P13501	894
CCL1	CCL17	Q92583	892
CCL1	CCR6	P51684	841
CCL1	CCL2	P13500	837
CCL1	CCRL2	O00421	833
CCL1	CCR2	P41597	821
CCL1	CCL22	O00626	818
CCL1	ACKR2	O00590	809
CCL1	CXCR2	P25025	795
CCL1	CDK7	P50613	788
CCL1	CCR3	P51677	781

IntAct

2 interactions, top by confidence:

A	B	Type	Score
CCL1	CXCL11	psi-mi:“MI:0407”(direct interaction)	0.440

BioGRID (9): CXCL11 (Reconstituted Complex), AMFR (Affinity Capture-Western), AMFR (Reconstituted Complex), CCL1 (Reconstituted Complex), CCL1 (Affinity Capture-Western), AMFR (Affinity Capture-MS), LRP6 (Affinity Capture-MS), GPR19 (Affinity Capture-MS), GPR35 (Affinity Capture-MS)

ESM2 similar proteins: A0A0R4INB9, A9QWP9, B0R191, K7XWG4, O43927, O55038, O62812, P02776, P02778, P06765, P10145, P10146, P10720, P17515, P18340, P19874, P22362, P26894, P36925, P41324, P43030, P46653, P48298, P48973, P49113, P67813, P67814, P78556, P79255, P80325, P82943, P97545, P97884, P97885, Q03366, Q07325, Q09141, Q102R3, Q2KIQ8, Q5KSV9

Diamond homologs: P10146, P10148, P13501, P14097, P14844, P16619, P22362, P46632, P50230, P51671, P55774, P80075, Q03366, Q08782, Q16663, Q17QA1, Q5I1Z0, Q68A92, Q68AZ0, Q711P4, Q8HYQ2, Q8MIT7, Q8NHW4, Q8SQA6, Q90826, Q9QXY8, Q9TTS6, F5HET8, O00175, O00626, O15467, O70460, O88430, O89093, O97919, P10147, P10855, P13236, P13500, P27784

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
CCL1	up-regulates	CCR8	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	6
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

264 predictions. Top by Δscore:

Variant	Effect	Δscore
17:34361783:A:AC	donor_gain	1.0000
17:34361784:C:CT	donor_gain	1.0000
17:34361892:CTGCA:C	acceptor_gain	1.0000
17:34361897:C:CC	acceptor_gain	1.0000
17:34363081:CTCA:C	donor_gain	1.0000
17:34363084:A:AC	donor_gain	1.0000
17:34363084:ACTG:A	donor_gain	1.0000
17:34363084:ACTGC:A	donor_loss	1.0000
17:34363085:C:A	donor_loss	1.0000
17:34363085:C:CT	donor_gain	1.0000
17:34363085:CT:C	donor_gain	1.0000
17:34363085:CTG:C	donor_gain	1.0000
17:34363085:CTGC:C	donor_gain	1.0000
17:34363085:CTGCT:C	donor_gain	1.0000
17:34360661:TC:T	acceptor_loss	0.9900
17:34360662:C:CA	acceptor_loss	0.9900
17:34360662:C:CC	acceptor_gain	0.9900
17:34361778:CACT:C	donor_loss	0.9900
17:34361779:ACTTA:A	donor_loss	0.9900
17:34361780:CTT:C	donor_loss	0.9900
17:34361781:TTACA:T	donor_loss	0.9900
17:34361782:TA:T	donor_loss	0.9900
17:34361783:AC:A	donor_loss	0.9900
17:34361894:GCA:G	acceptor_gain	0.9900
17:34361895:CA:C	acceptor_gain	0.9900
17:34361895:CAC:C	acceptor_gain	0.9900
17:34363080:A:AC	donor_gain	0.9900
17:34363081:C:CC	donor_gain	0.9900
17:34361784:CA:C	donor_gain	0.9800
17:34361788:AAGC:A	donor_gain	0.9800

AlphaMissense

628 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:34360610:C:A	W80C	0.997
17:34360610:C:G	W80C	0.997
17:34360659:A:G	F64S	0.976
17:34360612:A:G	W80R	0.974
17:34360612:A:T	W80R	0.974
17:34361862:A:C	F37L	0.962
17:34361862:A:T	F37L	0.962
17:34361864:A:G	F37L	0.962
17:34360659:A:C	F64C	0.949
17:34360632:C:G	C73S	0.932
17:34360633:A:T	C73S	0.932
17:34361863:A:C	F37C	0.932
17:34361868:G:C	F35L	0.922
17:34361868:G:T	F35L	0.922
17:34361870:A:G	F35L	0.922
17:34360645:C:A	G69C	0.917
17:34361872:C:G	C34S	0.915
17:34361873:A:T	C34S	0.915
17:34361803:C:G	C57S	0.912
17:34361804:A:T	C57S	0.912
17:34361826:A:C	C49W	0.911
17:34360631:G:C	C73W	0.901
17:34360612:A:C	W80G	0.900
17:34361848:A:G	I42T	0.897
17:34360632:C:T	C73Y	0.893
17:34361804:A:G	C57R	0.893
17:34361875:C:G	C33S	0.890
17:34361876:A:T	C33S	0.890
17:34363134:A:G	C10R	0.890
17:34361802:G:C	C57W	0.889

dbSNP variants (sampled 300 via entrez): RS1000144556 (17:34361237 A>G), RS1000318014 (17:34364681 G>A), RS1000349152 (17:34364344 G>C), RS1000626190 (17:34361037 A>G), RS1000680953 (17:34363076 C>T), RS1002316426 (17:34363964 A>G,T), RS1002322545 (17:34362056 T>C), RS1002360232 (17:34361794 T>C), RS1002575532 (17:34363539 G>T), RS1002664494 (17:34360876 C>T), RS1004282865 (17:34364753 C>A), RS1004690870 (17:34361129 A>G), RS1004692132 (17:34362934 C>T), RS1005127169 (17:34360942 T>A), RS1005158842 (17:34365195 T>C)

Disease associations

OMIM: gene MIM:182281 | 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
GCST001438_14	Crohn’s disease	4.000000e-08

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

40 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Tetrachlorodibenzodioxin	decreases reaction, increases expression, affects binding, increases reaction, increases activity	4
Benzo(a)pyrene	increases secretion, affects binding, increases reaction, increases methylation, decreases reaction (+1 more)	3
titanium dioxide	affects expression, increases secretion	2
nickel chloride	increases secretion, decreases reaction, increases expression	2
3’-methoxy-4’-nitroflavone	decreases reaction, increases expression, increases secretion	2
Lipopolysaccharides	increases expression, increases reaction, affects cotreatment, decreases reaction	2
alpha-naphthoflavone	increases expression, decreases reaction	1
indole-3-carbinol	increases expression, increases reaction	1
perfluorooctanoic acid	decreases expression	1
nickel sulfate	increases expression	1
S-(1,2-dichlorovinyl)cysteine	increases expression, decreases reaction, affects cotreatment	1
1,2-bis(2-aminophenoxy)ethane N,N,N’,N’-tetraacetic acid acetoxymethyl ester	decreases reaction, increases expression, increases secretion	1
KN 93	increases expression, decreases reaction	1
CGP 52608	affects binding, increases reaction	1
acyline	decreases expression	1
2-aminoethoxydiphenyl borate	increases expression, increases secretion, decreases reaction	1
6-formylindolo(3,2-b)carbazole	increases expression, increases reaction	1
lipopolysaccharide, E. coli O26-B6	decreases reaction, increases expression	1
CL 075	increases expression	1
(+)-JQ1 compound	decreases expression	1
Dasatinib	decreases expression	1
Resveratrol	decreases reaction, increases expression	1
Arsenic Trioxide	affects cotreatment, increases expression	1
Arsenic	affects cotreatment, decreases expression	1
Cannabidiol	decreases reaction, increases expression	1
Cannabinoids	decreases reaction, increases abundance, increases expression	1
Cholesterol	increases expression	1
Clozapine	decreases expression	1
Demecolcine	increases expression	1
Dust	increases expression	1

Clinical trials (associated diseases)

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