CCL18

Summary

CCL18 (C-C motif chemokine ligand 18, HGNC:10616) is a protein-coding gene on chromosome 17q12, encoding C-C motif chemokine 18 (P55774). Chemotactic factor that attracts lymphocytes but not monocytes or granulocytes.

This antimicrobial gene is one of several Cys-Cys (CC) cytokine genes clustered on the q arm of chromosome 17. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for naive T cells, CD4+ and CD8+ T cells and nonactivated lymphocytes, but not for monocytes or granulocytes. This chemokine attracts naive T lymphocytes toward dendritic cells and activated macrophages in lymph nodes. It may play a role in both humoral and cell-mediated immunity responses.

Source: NCBI Gene 6362 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 13 total
• MANE Select transcript: NM_002988

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10616
Approved symbol	CCL18
Name	C-C motif chemokine ligand 18
Location	17q12
Locus type	gene with protein product
Status	Approved
Aliases	DC-CK1, PARC, AMAC-1, DCCK1, MIP-4, CKb7
Ensembl gene	ENSG00000275385
Ensembl biotype	protein_coding
OMIM	603757
Entrez	6362

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 1 protein_coding, 1 retained_intron

ENST00000616054, ENST00000616474

RefSeq mRNA: 1 — MANE Select: NM_002988 NM_002988

CCDS: CCDS11306

Canonical transcript exons

ENST00000614828 — 0 exons

Expression profiles

Bgee: expression breadth ubiquitous, 116 present calls, max score 96.66.

FANTOM5 (CAGE): breadth broad, TPM avg 20.8904 / max 6981.8470, expressed in 266 samples.

FANTOM5 promoters (9 alternative TSS)

Promoter ID	TPM avg	Samples expressed
160393	20.3884	263
160394	0.1892	43
160395	0.0907	26
160396	0.0770	21
160397	0.0399	13
160391	0.0389	21
160398	0.0249	9
160392	0.0233	8
160399	0.0181	9

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lymph node	UBERON:0000029	96.66	gold quality
upper lobe of left lung	UBERON:0008952	92.40	gold quality
vermiform appendix	UBERON:0001154	91.90	gold quality
rectum	UBERON:0001052	88.39	gold quality
right lung	UBERON:0002167	86.32	gold quality
duodenum	UBERON:0002114	86.22	gold quality
lung	UBERON:0002048	85.27	gold quality
small intestine Peyer’s patch	UBERON:0003454	80.81	gold quality
small intestine	UBERON:0002108	80.45	gold quality
spleen	UBERON:0002106	80.35	gold quality
gall bladder	UBERON:0002110	78.13	gold quality
right coronary artery	UBERON:0001625	76.98	gold quality
left coronary artery	UBERON:0001626	76.25	gold quality
placenta	UBERON:0001987	74.91	gold quality
omental fat pad	UBERON:0010414	74.52	gold quality
lower esophagus muscularis layer	UBERON:0035833	74.40	gold quality
tonsil	UBERON:0002372	74.27	gold quality
lower esophagus	UBERON:0013473	74.20	gold quality
mucosa of transverse colon	UBERON:0004991	73.32	gold quality
descending thoracic aorta	UBERON:0002345	71.67	gold quality
apex of heart	UBERON:0002098	70.28	gold quality
thoracic aorta	UBERON:0001515	70.09	gold quality
ascending aorta	UBERON:0001496	69.76	gold quality
adipose tissue	UBERON:0001013	69.01	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	68.63	gold quality
minor salivary gland	UBERON:0001830	68.17	gold quality
intestine	UBERON:0000160	67.85	gold quality
saliva-secreting gland	UBERON:0001044	66.87	gold quality
esophagus	UBERON:0001043	65.67	gold quality
transverse colon	UBERON:0001157	65.06	gold quality

Single-cell (SCXA)

Detected in 10 experiment(s), a significant marker in 10.

Experiment	Marker?	Max mean expression
E-CURD-126	yes	5624.85
E-CURD-95	yes	1213.38
E-MTAB-8322	yes	556.98
E-HCAD-36	yes	425.93
E-MTAB-9435	yes	376.50
E-MTAB-8207	yes	290.94
E-GEOD-139324	yes	220.60
E-CURD-46	yes	162.77
E-HCAD-32	yes	150.87
E-ANND-3	yes	5.17

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

29 targeting CCL18, 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-3646	100.00	73.56	5283
HSA-MIR-33A-5P	99.99	68.62	1055
HSA-MIR-33B-5P	99.99	68.58	1062
HSA-MIR-548AT-5P	99.96	70.83	2666
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-3919	99.87	69.45	2489
HSA-MIR-4698	99.84	71.41	4303
HSA-MIR-6739-5P	99.80	67.87	2806
HSA-MIR-6733-5P	99.74	67.94	2759
HSA-MIR-4663	99.62	65.33	957
HSA-MIR-183-5P	99.31	72.27	1164
HSA-MIR-7515	99.31	68.22	1795
HSA-MIR-8052	99.17	65.01	719
HSA-MIR-219A-1-3P	98.91	67.87	639
HSA-MIR-1301-3P	98.64	68.27	1071
HSA-MIR-5047	98.64	68.62	1035
HSA-MIR-299-5P	98.56	71.14	1140
HSA-MIR-5581-3P	98.55	70.31	1161
HSA-MIR-6864-5P	98.38	66.59	1079
HSA-MIR-654-3P	98.38	67.61	905
HSA-MIR-93-3P	98.15	66.65	1309
HSA-MIR-1322	97.98	68.96	625
HSA-MIR-10526-3P	97.86	64.97	1342
HSA-MIR-4660	97.79	67.44	1328
HSA-MIR-6783-5P	97.67	67.21	1528
HSA-MIR-6782-3P	97.60	67.75	931
HSA-MIR-192-3P	97.52	67.66	1001
HSA-MIR-4288	97.11	67.23	1636
HSA-MIR-632	96.08	67.17	798

Literature-anchored findings (GeneRIF, showing 40)

• mRNA for the chemokine PARC is expressed in the lower respiratory tract in both healthy subjects and patients with pulmonary sarcoidosis. (PMID:12161279)
• An in vivo role for DC-CK1 is shown in the establishment of primary T cell responses in mice indicating the potential of DC-CK1 as an adjuvant for vaccines against malaria as well as other diseases in which cellular immune responses are important. (PMID:12626578)
• Investigation of the regulation of CCL18 production in maturing dendritic cells proposes that CCL18 may be part of an inhibitory pathway devoted to limiting the generation of specific immune responses at peripheral sites. (PMID:12646652)
• Eosinophil production of PARC, its chemotactic effect on monocytes and lymphocytes, and PARC’s previously described localization to the lung suggest that this chemokine might play a role in pulmonary leukocyte trafficking. (PMID:12716654)
• Results suggest that pulmonary and activation-regulated chemokine is a member of the CC chemokine family that acts directly as a profibrotic factor. (PMID:12805086)
• CCL18 is an antimicrobial protein with bacteriocidal activity against E. coli and S. aureus. (PMID:12949249)
• Serum PARC levels thus constitute a novel leukemia marker, possibly reflecting tumor/host cell interactions in the circulation (PMID:14578205)
• Regulation of CCL18 by allergen exposure and microbial products suggests its important role in the initiation and amplification of atopic skin inflammation. (PMID:15494534)
• Conclusive evidence links CCL18 protein expression with various stages of atopic dermatitis and demonstrates the capacity of CCL18 to recruit memory T cells into human skin in a SCID-hu mouse model. (PMID:15661937)
• chitotriosidase and CCL18 have roles in formation of pathological lipid-laden macrophages in type B Niemann-Pick disease (PMID:15702402)
• Native collagen significantly up-regulated CCL18 expression in normal AMs activated with Th2 cytokines via a mechanism mediated by beta2-integrin/ scavenger receptor(s). (PMID:16415274)
• A new function for CCL18–the recruitment of Th2 cells and basophils–suggests that CCL18 may play a predominant role in allergic asthma. (PMID:16670340)
• urinary CCL18 levels are related to Gaucher cell burden in Gaucher patients (PMID:16736095)
• variation in the CCL18-CCL3-CCL4 chemokine gene cluster influences HIV Type 1 transmission and AIDS disease progression (PMID:16773571)
• IL-10 synergistically induces CCL18 secretion in combination with IL-4 of IL-13 on monocytes and monocyte derived cells. (PMID:16984635)
• Differential transcription occurring early in atopic dermatitis skin was indicated for CCL18, CCL13, IFNalpha2, PPARalpha and PPARgamma. (PMID:17181634)
• These findings suggest that CCL18 production by bronchoalveolar lavage cells and serum CCL18 concentrations reflect pulmonary fibrotic activity in patients with idiopathic interstitial pneumonias and those with systemic sclerosis. (PMID:17469163)
• CCl18 is expressed in synovial fluid neutrophils in patients with rheumatoid arthritis. (PMID:17875202)
• Upregulation of CCL18 expression and downregulation of CX3CR1 expression play a role in immune responses against the adult t-cell leukemia cells. (PMID:17900259)
• CCL18 and CCL5 are transiently raised during episodes of UAP, and peak levels of both chemokines are indicative of refractory symptoms. (PMID:17909104)
• CCL18 expression didn’t differ in PBMCs, sera and Langerhans cells from intrinsic and extrinsic subgroups, but CCL18 expression was observed in lesional skins and inflammatory dendritic epidermal cells in patients with extrinsic atopic dermatitis. (PMID:17979978)
• PARC, is elevated in sputum specimens from patients with asthma. PARC may play important roles in development of airway eosinophilic inflammation in asthma. (PMID:19017877)
• CCL18 is predominantly expressed in human atherosclerotic plaques and may participate in the atherosclerotic plaque formation. (PMID:19036375)
• CCL18 production by BAL-cells is down-regulated by chronic cigarette smoking and LPS contamination in cigarette smoke might be one factor involved (PMID:19357939)
• Determination of plasma chitotriosidase and CCL18 may be useful to monitor changes in granulomatous macrophages during the course of sarcoidosis (PMID:19808030)
• Serum CCL18 level was significantly elevated in epithelial ovarian cancer patients with early stages compared to those with late stages. (PMID:19937162)
• results indicated that a significant production of CCL18/PARC in different CNS traumatic and neoplasm tissues by specific cellular elements expressing the chemokine (PMID:19958819)
• CCL18 is an important modulator of CXCR4-dependent responses in pre-B acute lymphocytic leukemia cells via interactions with GPR30. (PMID:20568229)
• Low cord blood CCL18 is an independent risk factor of intraventricular hemorrhage. (PMID:20608885)
• CCL18/PARC is a potential diagnostic and prognostic parameter in patients with stable coronary artery disease. (PMID:20674579)
• Levels of CCL18 were raised least in meningeal TB, and most in pulmonary patients with long histories, when levels were similar to those in disease controls (PMID:21251883)
• High CCL18 is associated with functional deficiency and fibrosis of the peritoneal membrane. (PMID:21324976)
• CCL18 derived from Tumor-associated macrophages (TAMs) lays a critical role in promoting breast cancer metastasis via its receptor, PITPNM3. (PMID:21481794)
• Serum levels of CCL18 correlate with the clinical severity score, serum eosinophil, and IgE levels in eczema and atopy. (PMID:21539615)
• serum CCL18 is an accurate predictive biomarker for the identification of patients with a higher risk of subsequent scleroderma lung disease worsening. (PMID:21778167)
• Serum CCL18 and CXCL1 are potentially useful as novel circulating tumor markers for the differential diagnosis between ovarian cancer and benign ovarian masses. (PMID:21928244)
• Overproduction of CCL18 might contribute to the pathogenesis of CRSwNP through its known activities, which include recruitment of lymphocytes and dendritic cells, activation of fibroblasts, and initiation of local inflammation. (PMID:21943944)
• CCL18 functions as a maturation factor for monocytes leading to the development of macrophages in the M2 spectrum. (PMID:22117697)
• IL-6 and CCL18 could clearly distinguish between women with breast cancers and healthy controls. (PMID:22203932)
• These results suggest that CCL18 may be associated with the development of cutaneous T-cell lymphoma. (PMID:22404649)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	ccl35.2	ENSDARG00000070378
danio_rerio	ccl35.1	ENSDARG00000103466
mus_musculus	Ccl3	ENSMUSG00000000982
rattus_norvegicus	Ccl3	ENSRNOG00000011205

Paralogs (26): CX3CL1 (ENSG00000006210), CCL26 (ENSG00000006606), CCL22 (ENSG00000102962), CCL17 (ENSG00000102970), CCL24 (ENSG00000106178), CCL7 (ENSG00000108688), CCL2 (ENSG00000108691), CCL8 (ENSG00000108700), CCL1 (ENSG00000108702), CCL20 (ENSG00000115009), CCL25 (ENSG00000131142), CCL21 (ENSG00000137077), XCL1 (ENSG00000143184), XCL2 (ENSG00000143185), CCL11 (ENSG00000172156), CCL19 (ENSG00000172724), CCL13 (ENSG00000181374), CCL5 (ENSG00000271503), CCL23 (ENSG00000274736), CCL16 (ENSG00000275152), CCL4 (ENSG00000275302), CCL15 (ENSG00000275718), CCL4L2 (ENSG00000276070), CCL3L3 (ENSG00000276085), CCL14 (ENSG00000276409), CCL3 (ENSG00000277632)

Protein

Protein identifiers

C-C motif chemokine 18 — P55774 (reviewed: P55774)

Alternative names: Alternative macrophage activation-associated CC chemokine 1, CC chemokine PARC, Dendritic cell chemokine 1, Macrophage inflammatory protein 4, Pulmonary and activation-regulated chemokine, Small-inducible cytokine A18

All UniProt accessions (1): P55774

UniProt curated annotations — full annotation on UniProt →

Function. Chemotactic factor that attracts lymphocytes but not monocytes or granulocytes. May be involved in B-cell migration into B-cell follicles in lymph nodes. Attracts naive T-lymphocytes toward dendritic cells and activated macrophages in lymph nodes, has chemotactic activity for naive T-cells, CD4+ and CD8+ T-cells and thus may play a role in both humoral and cell-mediated immunity responses.

Subcellular location. Secreted.

Tissue specificity. Expressed at high levels in lung, lymph nodes, placenta, bone marrow, dendritic cells present in germinal centers and T-cell areas of secondary lymphoid organs and macrophages derived from peripheral blood monocytes. Not expressed by peripheral blood monocytes and a monocyte-to-macrophage differentiation is a prerequisite for expression. Expressed in synovial fluids from patients with rheumatoid and septic arthritis and in ovarian carcinoma ascitic fluid.

Post-translational modifications. The Cys-30/Cys-54 disulfide bond is required for activity.

Induction. Specifically induced in macrophages by IL4/interleukin-4, IL13/interleukin-13, and IL10/interleukin-10. Expression is inhibited by IFNG/IFN-gamma while glucocorticoids exert a slightly positive synergistic effect in combination with IL4/interleukin-4. Strongly induced in several human cell lines, including monocytic U-937 cells, by phorbol myristate acetate (PMA). Induced in PBMC by staphylococcal enterotoxins SEA and SEB.

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

RefSeq proteins (1): NP_002979* (*=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): chain 4, strand 4, helix 3, disulfide bond 2, signal peptide 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
4MHE	X-RAY DIFFRACTION	2.1

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P55774-F1	87.68	0.69

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 (2): 30–54, 31–70

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 146 (showing top): MODULE_92, GOBP_ANTIMICROBIAL_HUMORAL_RESPONSE, MCLACHLAN_DENTAL_CARIES_UP, GOBP_CELL_CHEMOTAXIS, GOBP_INFLAMMATORY_RESPONSE, GOBP_RESPONSE_TO_PEPTIDE, MODULE_64, MODULE_128, GAURNIER_PSMD4_TARGETS, GOBP_CELL_CELL_SIGNALING, RAY_ALZHEIMERS_DISEASE, GOBP_TAXIS, MODULE_75, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, RUTELLA_RESPONSE_TO_CSF2RB_AND_IL4_UP

GO Biological Process (10): chemotaxis (GO:0006935), inflammatory response (GO:0006954), immune response (GO:0006955), cell communication (GO:0007154), signal transduction (GO:0007165), cell-cell signaling (GO:0007267), positive regulation of cell migration (GO:0030335), cell chemotaxis (GO:0060326), antimicrobial humoral immune response mediated by antimicrobial peptide (GO:0061844), chemokine-mediated signaling pathway (GO:0070098)

GO Molecular Function (4): chemokine activity (GO:0008009), CCR chemokine receptor binding (GO:0048020), cytokine activity (GO:0005125), protein binding (GO:0005515)

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

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular process	2
cell communication	2
signaling	2
cell migration	2
chemokine receptor binding	2
response to chemical	1
taxis	1
defense response	1
immune system process	1
response to stimulus	1
regulation of cellular process	1
cellular response to stimulus	1
regulation of cell migration	1
positive regulation of cell motility	1
chemotaxis	1
cellular response to chemical stimulus	1
antimicrobial humoral response	1
G protein-coupled receptor signaling pathway	1
cytokine-mediated signaling pathway	1
cellular response to chemokine	1
cytokine activity	1
cell chemotaxis	1
receptor ligand activity	1
binding	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1604 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CCL18	PITPNM3	Q9BZ71	993
CCL18	CCR8	P51685	992
CCL18	CCR1	P32246	872
CCL18	CXCL8	P10145	825
CCL18	CCL19	Q99731	780
CCL18	CXCL1	P09341	736
CCL18	CXCL13	O43927	734
CCL18	CXCL5	P42830	734
CCL18	IL13	P35225	730
CCL18	CXCR5	P32302	728
CCL18	IL1B	P01584	721
CCL18	CXCL3	P19876	714
CCL18	TSLP	Q969D9	701
CCL18	CXCL2	P19875	683
CCL18	PPBP	P02775	679

IntAct

14 interactions, top by confidence:

A	B	Type	Score
PITPNM3	CCL18	psi-mi:“MI:0915”(physical association)	0.560
CCL18	PITPNM3	psi-mi:“MI:0403”(colocalization)	0.560
CCL18	PITPNM3	psi-mi:“MI:0915”(physical association)	0.560
CCL11	CCL18	psi-mi:“MI:0407”(direct interaction)	0.440
MAPT	NCAN	psi-mi:“MI:0914”(association)	0.350
CCL18	PZP	psi-mi:“MI:0914”(association)	0.350
CCL18	EEF1A1	psi-mi:“MI:0915”(physical association)	0.000
CCL18	CRMP1	psi-mi:“MI:0915”(physical association)	0.000
CCL18	TP53	psi-mi:“MI:0915”(physical association)	0.000
CCL18	UNC119	psi-mi:“MI:0915”(physical association)	0.000
CCL18	TLE1	psi-mi:“MI:0915”(physical association)	0.000
CCL18	ERG28	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (23): C14orf1 (Two-hybrid), TLE1 (Two-hybrid), CRMP1 (Two-hybrid), TP53 (Two-hybrid), UNC119 (Two-hybrid), EEF1A1 (Two-hybrid), CCL18 (Reconstituted Complex), SHQ1 (Affinity Capture-MS), FKBP10 (Affinity Capture-MS), PZP (Affinity Capture-MS), TRIP10 (Affinity Capture-MS), BANP (Affinity Capture-MS), POMK (Affinity Capture-MS), PDIA5 (Affinity Capture-MS), BIRC6 (Affinity Capture-MS)

ESM2 similar proteins: F5HET8, O00626, O88430, O89093, P08317, P10889, P12850, P13500, P14095, P19874, P28291, P30348, P36925, P42830, P42831, P46653, P49873, P51671, P52203, P55774, P61274, P61275, P78556, P80075, P80098, P80221, P82943, Q03366, Q09141, Q16627, Q5RA36, Q62401, Q68AY9, Q68Y88, Q6W5C0, Q8HYP8, Q8HYP9, Q8I021, Q8MIT7, Q8SQB1

Diamond homologs: F5HET8, O00175, O00585, O00626, O55145, O88430, O97919, P10147, P10148, P10855, P13236, P13500, P13501, P14097, P14844, P16619, P27784, P28291, P28292, P30882, P42831, P46632, P47993, P49873, P50229, P50230, P50231, P51670, P51671, P52203, P55773, P55774, P61274, P61275, P78423, P80075, P80098, P80343, P82943, P97272

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	10
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

208 predictions. Top by Δscore:

Variant	Effect	Δscore
17:36070441:TTGCA:T	acceptor_loss	1.0000
17:36070444:CAGTT:C	acceptor_loss	1.0000
17:36070445:A:AG	acceptor_gain	1.0000
17:36070445:A:T	acceptor_loss	1.0000
17:36070445:AGTT:A	acceptor_gain	1.0000
17:36070446:G:GA	acceptor_gain	1.0000
17:36070446:GTT:G	acceptor_gain	1.0000
17:36070446:GTTG:G	acceptor_gain	1.0000
17:36070554:GTCAT:G	donor_gain	1.0000
17:36070559:G:GG	donor_gain	1.0000
17:36070949:A:AG	acceptor_gain	1.0000
17:36070950:G:GA	acceptor_gain	1.0000
17:36070950:GCCT:G	acceptor_gain	1.0000
17:36064407:AAGGT:A	donor_loss	0.9900
17:36064409:GGTG:G	donor_loss	0.9900
17:36064410:G:C	donor_loss	0.9900
17:36064411:T:A	donor_loss	0.9900
17:36070445:AGTTG:A	acceptor_gain	0.9900
17:36070446:GT:G	acceptor_gain	0.9900
17:36070446:GTTGG:G	acceptor_gain	0.9900
17:36070553:TGTC:T	donor_gain	0.9900
17:36070555:TCATG:T	donor_loss	0.9900
17:36070557:ATGT:A	donor_loss	0.9900
17:36070558:TGTA:T	donor_loss	0.9900
17:36070560:TAAGT:T	donor_loss	0.9900
17:36070561:A:AC	donor_loss	0.9900
17:36070946:CACA:C	acceptor_loss	0.9900
17:36070947:ACAG:A	acceptor_loss	0.9900
17:36070948:CAGC:C	acceptor_loss	0.9900
17:36070950:GC:G	acceptor_gain	0.9900

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000201843 (17:36063621 G>A), RS1000304885 (17:36063049 A>G,T), RS1000358603 (17:36063372 C>G,T), RS1000930741 (17:36062339 G>T), RS1001058493 (17:36068151 T>C,G), RS1001279607 (17:36067814 A>G), RS1001432594 (17:36068124 A>T), RS1001885865 (17:36066514 G>A), RS1002029545 (17:36066722 A>G,T), RS1002522626 (17:36071200 C>A,T), RS1002845978 (17:36066699 G>A,C), RS1003064099 (17:36065645 G>C), RS1003864506 (17:36066768 G>A), RS1003950736 (17:36069741 C>T), RS1004562924 (17:36071555 T>C,G)

Disease associations

OMIM: gene MIM:603757 | 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
GCST006585_159	Blood protein levels	7.000000e-124

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Arsenic Trioxide	decreases reaction, increases secretion, increases expression	2
Nickel	increases expression	2
propionaldehyde	increases expression	1
testosterone undecanoate	increases expression	1
sodium arsenite	increases expression	1
nickel chloride	increases expression, increases reaction	1
cadmium acetate	increases expression	1
acetovanillone	decreases reaction, increases secretion	1
SB 203580	decreases reaction, increases secretion	1
lipopolysaccharide, E. coli O26-B6	increases reaction, increases expression	1
bardoxolone methyl	decreases reaction, increases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	increases expression	1
Acetylcysteine	decreases expression, decreases reaction	1
Arsenic	affects cotreatment, decreases expression	1
Vehicle Emissions	affects reaction, increases expression	1
Benzo(a)pyrene	increases methylation	1
Demecolcine	increases expression	1
Dietary Carbohydrates	increases expression	1
Fluorides	affects cotreatment, decreases expression	1
Latex	increases expression	1
Lipopolysaccharides	decreases reaction, increases expression	1
Perfume	increases expression	1
Tetradecanoylphorbol Acetate	affects cotreatment, affects expression	1
Zinc	affects cotreatment, affects expression	1
Zinc Oxide	decreases expression	1
Cyclosporine	increases methylation	1
Antirheumatic Agents	decreases expression	1
Cadmium Chloride	decreases expression, decreases reaction	1
Nanotubes, Carbon	increases expression	1
Particulate Matter	affects reaction, increases expression	1

Clinical trials (associated diseases)

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