CCL20

Summary

CCL20 (C-C motif chemokine ligand 20, HGNC:10619) is a protein-coding gene on chromosome 2q36.3, encoding C-C motif chemokine 20 (P78556). Acts as a ligand for C-C chemokine receptor CCR6.

This antimicrobial gene belongs to the subfamily of small cytokine CC genes. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The protein encoded by this gene displays chemotactic activity for lymphocytes and can repress proliferation of myeloid progenitors. Two transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 6364 — RefSeq curated summary.

At a glance

• GWAS associations: 17
• Clinical variants (ClinVar): 17 total
• MANE Select transcript: NM_004591

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10619
Approved symbol	CCL20
Name	C-C motif chemokine ligand 20
Location	2q36.3
Locus type	gene with protein product
Status	Approved
Aliases	LARC, MIP-3a, exodus-1, ST38, CKb4
Ensembl gene	ENSG00000115009
Ensembl biotype	protein_coding
OMIM	601960
Entrez	6364

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 3 protein_coding, 1 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000358813, ENST00000409189, ENST00000473642, ENST00000489160, ENST00000646475

RefSeq mRNA: 2 — MANE Select: NM_004591 NM_001130046, NM_004591

CCDS: CCDS2469, CCDS46536

Canonical transcript exons

ENST00000358813 — 4 exons

Exon	Start	End
ENSE00000786519	227815454	227815568
ENSE00001407568	227813842	227813987
ENSE00001920600	227817062	227817556
ENSE00003555066	227816307	227816384

Expression profiles

Bgee: expression breadth ubiquitous, 202 present calls, max score 97.69.

FANTOM5 (CAGE): breadth broad, TPM avg 95.5533 / max 17500.7790, expressed in 815 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
25758	95.0504	774
25760	0.3251	114
25761	0.0782	19
25759	0.0626	29
25757	0.0370	19

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
epithelium of nasopharynx	UBERON:0001951	97.69	gold quality
cartilage tissue	UBERON:0002418	95.76	gold quality
gall bladder	UBERON:0002110	95.59	gold quality
secondary oocyte	CL:0000655	94.91	gold quality
vermiform appendix	UBERON:0001154	93.10	gold quality
rectum	UBERON:0001052	92.53	gold quality
type B pancreatic cell	CL:0000169	91.79	silver quality
mucosa of sigmoid colon	UBERON:0004993	90.37	gold quality
sperm	CL:0000019	90.22	silver quality
colonic mucosa	UBERON:0000317	89.70	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	89.59	gold quality
oocyte	CL:0000023	89.18	gold quality
islet of Langerhans	UBERON:0000006	88.92	gold quality
periodontal ligament	UBERON:0008266	88.91	gold quality
male germ cell	CL:0000015	86.77	silver quality
epithelial cell of pancreas	CL:0000083	86.22	gold quality
caecum	UBERON:0001153	85.86	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	83.40	gold quality
mucosa of transverse colon	UBERON:0004991	82.24	gold quality
ileal mucosa	UBERON:0000331	81.27	silver quality
mucosa of urinary bladder	UBERON:0001259	81.21	gold quality
tonsil	UBERON:0002372	81.20	gold quality
gingival epithelium	UBERON:0001949	80.97	silver quality
amniotic fluid	UBERON:0000173	80.22	silver quality
gingiva	UBERON:0001828	79.62	silver quality
cervix squamous epithelium	UBERON:0006922	78.49	gold quality
palpebral conjunctiva	UBERON:0001812	78.25	silver quality
upper lobe of left lung	UBERON:0008952	78.14	gold quality
small intestine Peyer’s patch	UBERON:0003454	77.84	gold quality
squamous epithelium	UBERON:0006914	76.48	silver quality

Single-cell (SCXA)

Detected in 9 experiment(s), a significant marker in 9.

Experiment	Marker?	Max mean expression
E-HCAD-29	yes	22658.90
E-MTAB-8495	yes	7540.55
E-CURD-89	yes	6117.69
E-CURD-46	yes	2103.19
E-CURD-88	yes	1418.34
E-ENAD-21	yes	878.11
E-CURD-7	yes	752.16
E-MTAB-6701	yes	9.10
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CEBPB, CEBPD, ELF3, FOS, FOXL2, FOXO1, JUN, KLF6, NFKB1, NFKB2, NFKB, NFKBIA, PPARG, REL, RELA, RELB, SMAD3, SMAD4, SP1, STAT3

miRNA regulators (miRDB)

25 targeting CCL20, 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-5692A	100.00	74.40	6850
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-338-5P	99.92	72.34	2951
HSA-MIR-3529-3P	99.90	73.55	3045
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-4719	99.73	72.10	3329
HSA-MIR-1827	99.63	68.57	3265
HSA-MIR-21-5P	99.46	70.54	1035
HSA-MIR-330-3P	99.41	69.95	2521
HSA-MIR-4316	99.37	65.75	1360
HSA-MIR-6507-3P	99.35	67.32	1059
HSA-MIR-1272	99.34	68.79	878
HSA-MIR-4652-3P	99.33	70.02	2742
HSA-MIR-5582-5P	99.27	71.42	1879
HSA-MIR-590-5P	99.25	70.76	930
HSA-MIR-4520-2-3P	99.14	69.28	1009
HSA-MIR-4520-3P	98.75	66.55	963
HSA-MIR-1322	97.98	68.96	625
HSA-MIR-15B-3P	97.85	66.68	974
HSA-MIR-4327	97.21	67.71	676
HSA-MIR-5579-3P	97.00	68.81	1111
HSA-MIR-635	96.00	65.54	687
HSA-MIR-6774-5P	95.94	65.18	722

Literature-anchored findings (GeneRIF, showing 40)

• B-cell chemotaxis responsiveness to MIP-3alpha is profoundly suppressed by surrogate antigen. (PMID:11877260)
• MIP-3 alpha-induced calcium flux and chemotaxis can be enhanced significantly on peripheral blood and tonsillar B cells after activation by cross-linking surface antigen receptors. (PMID:11994436)
• Increased serum levels of macrophage inflammatory protein-3alpha in chronic viral hepatitis (PMID:12010510)
• MIP-3alpha, in periodontal diseased tissue appears to have an important role in the selective recruitment of T cells in the context of periodontal inflammation. (PMID:12067311)
• x-ray crystal structure of human MIP-3alpha refined to a resolution of 1.7 A compared with the crystal structures of human beta-defensin-1 and -2 (PMID:12149255)
• LARC plays a crucial role in the tumor immunity of human malignant glioma (PMID:12239608)
• These results show that the concentration of MIP-3alpha in the endometrium is modulated by these inflammatory mediators. (PMID:12356943)
• co-ordinate activation and binding of ESE-1, Sp1, and NF-kappaB to the MIP-3alpha promoter is required for maximal gene expression by cytokine-stimulated Caco-2 human intestinal epithelial cells. (PMID:12414801)
• demonstrated that P. aeruginosa can provide a direct signal to stimulate CCL20 and GM-CSF production by human mast cells (PMID:12496186)
• Results describe the relationship between cancer-related factors and serum levels of macrophage inflammatory protein-3alpha in hepatocellular carcinoma. (PMID:12684696)
• Cells were also exposed to small size-fractions of ambient particulate matter. Each of these stimuli induced MIP-3alpha/CCL20 gene and protein expression. (PMID:12760962)
• MIP-3alpha and BD-2 have the ability to stimulate odontoblast differentiation in addition to their more traditional role in inflammation (PMID:12821122)
• CCL20 is an antimicrobial protein with bacteriocidal activity against E. coli and S. aureus. (PMID:12949249)
• Calcium triggers beta-defensin (hBD-2 and hBD-3) and chemokine macrophage inflammatory protein-3 alpha (MIP-3alpha/CCL20) expression in monolayers of activated human keratinocytes (PMID:14714554)
• in non-transformed human colonocytes, MEK activation following flagellin/TLR5 engagement is a key modulator for NFkappaB-independent, IL-8 and MIP3alpha expression. (PMID:15069060)
• rowth of a proportion of human hapatocellular carcinoma cells may be mediated by CCL20-CCR6 axis. (PMID:15336571)
• MIP-3alpha was present in follicular fluid and correlated with oocyte maturation, and was regulated by IL-1alpha and TNF-alpha. MIP-3alpha may play an important role in the human preovulatory process. (PMID:15474097)
• the alveolar epithelium is an important source of CCL20 in the lung and may play a critical role in controlling the movement of dendritic cells through the lung both under normal and inflammatory conditions (PMID:15618437)
• plays a role in the advancement of pulpal inflammation via the recruitment of Chemokine (C-C motif) Receptor 6-expressing lymphocytes (PMID:15671814)
• IL-1alpha, TNF-alpha, CCL20, CCL27, and CXCL8 alarm signals are induced in human cells after allergen and irritant exposure (PMID:15679580)
• MIP-3 alpha expression may be involved in the recruitment of CD45R0-positive T cell subsets into the intestinal lamina propria (PMID:16034074)
• MIP-3alpha/CCL20 has a role in amplification of the immune response during renal allograft rejection by attraction of CCR6+ inflammatory cells, which may include DC, to the site of inflammation (PMID:16095490)
• In conclusion, IEC and CRC express CCL20 and its receptor CCR6. CCL20 expression is increased in intestinal inflammation, while CCR6 is upregulated during cell differentiation. (PMID:16215992)
• Vaginal epithelial cells respond to factors present in semen by secreting CCL20, leading to the enhancement of langerhans cells recruitment during HIV transmission. (PMID:16531471)
• Of all chemokines found to be expressed in normal liver and hepatocellular carcinoma (HCC) tissues, CCL20 was the only chemokine showing significant upregulation in HCC tissues. (PMID:16764701)
• The structure of the human macrophage inflammatory protein-3alpha has been determined at 1.81 angstroms resolution by X-ray crystallography (PMID:16820679)
• CXCR4 expression in colorectal liver metastases suggests it is a predictive factor. CCL20 and receptor CCR6 expression in hepatocellular carcinomas indicates a role of a CCL20/CCR6 ligand-receptor pair in liver carcinogenesis and progression. (PMID:17075975)
• Our results add new insight to the important role of the CCL20/CCR6, RANKL system in the bone tissue of rheumatoid arthritis. (PMID:17133360)
• Stimulation of intestinal epithelial cells with IL-21 resulted in enhanced phosphorylation of ERK1/2 and p38 and increased synthesis of macrophage inflammatory protein-3 alpha (MIP-3alpha), a T-cell chemoattractant (PMID:17241869)
• UTP up-regulated approximately 2- to 3-fold the antimicrobial chemokine CCL20 expression and release in primary airway epithelial cells (PMID:17295217)
• CCL20 and CXCR4 expressions are markedly down-regulated in epidermal condyloma acuminatum lesions. (PMID:17545018)
• MIP-3alpha can regulate mitogenic signaling in colonic epithelial cells. (PMID:17548638)
• Interaction between CCL20 and CCR6 may play a role in chemokine-mediated lymphocyte trafficking during gastric inflammation in Helicobacter infection. (PMID:17562763)
• the role of TGF beta 1 in high glucose-induced MIP-3 alpha expression (PMID:17664181)
• CCL19, CCL20 and CCL22 factors could play an additive role in the pathogenesis of the inflammatory process leading to bronchiolar fibro-obliteration in lung transplant patients (PMID:18047937)
• The C-terminal alpha-helical region of MIP-3alpha plays a significant part in its broad anti-infective activity (PMID:18086840)
• CCL20(macrophage inflammatory protein 3) concentrations were significantly higher in Synovial fluie (SF) compared with peripheal blood samples; SF mononuclear cells constitutively expressed CCL20 messenger RNA (PMID:18512817)
• exodus-1is a physiologic constituent of amniotic fluide; its concentration increases as term approaches;elevated levels are found in intraamniotic infection/inflammation (PMID:18576931)
• the Th2 cytokine IL-21 is abnormally expressed in Hodgkin lymphoma cells, which regulates STAT3 signaling and attracts Treg cells via regulation of MIP-3alpha (PMID:18684866)
• CCL20 is overexpressed in myeloma microenvironment related to osteolytic bone lesions. (PMID:18703490)

Cross-species orthologs

1 orthologs

Organism	Symbol	Gene ID
mus_musculus	Ccl20	ENSMUSG00000026166

Paralogs (26): CX3CL1 (ENSG00000006210), CCL26 (ENSG00000006606), CCL22 (ENSG00000102962), CCL17 (ENSG00000102970), CCL24 (ENSG00000106178), CCL7 (ENSG00000108688), CCL2 (ENSG00000108691), CCL8 (ENSG00000108700), CCL1 (ENSG00000108702), 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 20 — P78556 (reviewed: P78556)

Alternative names: Beta-chemokine exodus-1, CC chemokine LARC, Liver and activation-regulated chemokine, Macrophage inflammatory protein 3 alpha, Small-inducible cytokine A20

All UniProt accessions (2): P78556, A0A2R8Y806

UniProt curated annotations — full annotation on UniProt →

Function. Acts as a ligand for C-C chemokine receptor CCR6. Signals through binding and activation of CCR6 and induces a strong chemotactic response and mobilization of intracellular calcium ions. The ligand-receptor pair CCL20-CCR6 is responsible for the chemotaxis of dendritic cells (DC), effector/memory T-cells and B-cells and plays an important role at skin and mucosal surfaces under homeostatic and inflammatory conditions, as well as in pathology, including cancer and various autoimmune diseases. CCL20 acts as a chemotactic factor that attracts lymphocytes and, slightly, neutrophils, but not monocytes. Involved in the recruitment of both the pro-inflammatory IL17 producing helper T-cells (Th17) and the regulatory T-cells (Treg) to sites of inflammation. Required for optimal migration of thymic natural regulatory T cells (nTregs) and DN1 early thymocyte progenitor cells. C-terminal processed forms have been shown to be equally chemotactically active for leukocytes. Positively regulates sperm motility and chemotaxis via its binding to CCR6 which triggers Ca2+ mobilization in the sperm which is important for its motility. Inhibits proliferation of myeloid progenitors in colony formation assays. May be involved in formation and function of the mucosal lymphoid tissues by attracting lymphocytes and dendritic cells towards epithelial cells. Possesses antibacterial activity towards E.coli ATCC 25922 and S.aureus ATCC 29213.

Subcellular location. Secreted.

Tissue specificity. Expressed in the seminal plasma, endometrial fluid and follicular fluid (at protein level). Expressed predominantly in the liver, lymph nodes, appendix, peripheral blood lymphocytes, and fetal lung. Low levels seen in thymus, prostate, testis, small intestine and colon.

Post-translational modifications. C-terminal processed forms which lack 1, 3 or 6 amino acids are produced by proteolytic cleavage after secretion from peripheral blood monocytes.

Induction. By bacterial lipopolysaccharides (LPS), TNF and IFNG/IFN-gamma. Induced by phorbol myristate acetate (PMA) in U-937 cell line and bowes melanoma. Repressed by IL10/interleukin-10.

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

Isoforms (2)

UniProt ID	Names	Canonical?
P78556-1	1	yes
P78556-2	2

RefSeq proteins (2): NP_001123518, NP_004582* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000827	Chemokine_CC_CS	Conserved_site
IPR001811	Chemokine_IL8-like_dom	Domain
IPR034133	Chemokine_CC_DCCL	Domain
IPR036048	Interleukin_8-like_sf	Homologous_superfamily
IPR039809	Chemokine_b/g/d	Family

Pfam: PF00048

UniProt features (17 total): strand 5, chain 4, helix 3, disulfide bond 2, signal peptide 1, splice variant 1, sequence variant 1

Structure

Experimental structures (PDB)

6 structures.

PDB	Method	Resolution (Å)
7T1E	X-RAY DIFFRACTION	1.46
1M8A	X-RAY DIFFRACTION	1.7
2HCI	X-RAY DIFFRACTION	1.81
5UR7	X-RAY DIFFRACTION	2
6WWZ	ELECTRON MICROSCOPY	3.34
2JYO	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P78556-F1	89.36	0.64

Antibody-complex structures (SAbDab): 1 — 6WWZ

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): 32–58, 33–74

Function

Pathways and Gene Ontology

Reactome pathways

12 pathways

ID	Pathway
R-HSA-380108	Chemokine receptors bind chemokines
R-HSA-418594	G alpha (i) signalling events
R-HSA-6783783	Interleukin-10 signaling
R-HSA-1280215	Cytokine Signaling in Immune system
R-HSA-162582	Signal Transduction
R-HSA-168256	Immune System
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-449147	Signaling by Interleukins
R-HSA-500792	GPCR ligand binding

MSigDB gene sets: 352 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_DN, GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_UP, GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_UP, CREL_01, MODULE_92, GOBP_ANTIMICROBIAL_HUMORAL_RESPONSE, GOBP_CELL_CHEMOTAXIS, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, GOBP_INFLAMMATORY_RESPONSE, GCANCTGNY_MYOD_Q6, BHATI_G2M_ARREST_BY_2METHOXYESTRADIOL_DN, MODULE_64, AREB6_03, GOBP_POSITIVE_REGULATION_OF_LYMPHOCYTE_MIGRATION, HALMOS_CEBPA_TARGETS_UP

GO Biological Process (11): chemotaxis (GO:0006935), inflammatory response (GO:0006954), immune response (GO:0006955), signal transduction (GO:0007165), cell-cell signaling (GO:0007267), calcium-mediated signaling (GO:0019722), defense response to bacterium (GO:0042742), cell chemotaxis (GO:0060326), T cell migration (GO:0072678), thymocyte migration (GO:0072679), positive regulation of T cell migration (GO:2000406)

GO Molecular Function (4): chemokine activity (GO:0008009), CCR6 chemokine receptor binding (GO:0031731), cytokine activity (GO:0005125), protein binding (GO:0005515)

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

Reactome top-level categories

Rollup of top-9 pathways:

Category	Pathways
Signaling by GPCR	2
Peptide ligand-binding receptors	1
GPCR downstream signalling	1
Signaling by Interleukins	1
Immune System	1
Signal Transduction	1
GPCR ligand binding	1
Class A/1 (Rhodopsin-like receptors)	1
Cytokine Signaling in Immune system	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
defense response	2
cell communication	2
signaling	2
T cell migration	2
response to chemical	1
taxis	1
immune system process	1
response to stimulus	1
cellular process	1
regulation of cellular process	1
cellular response to stimulus	1
intracellular signaling cassette	1
response to bacterium	1
chemotaxis	1
cell migration	1
cellular response to chemical stimulus	1
lymphocyte migration	1
positive regulation of lymphocyte migration	1
regulation of T cell migration	1
cytokine activity	1
chemokine receptor binding	1
cell chemotaxis	1
CCR chemokine receptor binding	1
receptor ligand activity	1
binding	1
cellular anatomical structure	1

Protein interactions and networks

STRING

2906 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CCL20	CCR6	P51684	999
CCL20	CCRL2	O00421	999
CCL20	CCR2	P41597	988
CCL20	CCR7	P32248	984
CCL20	CCR5	P51681	984
CCL20	CXCR3	P49682	983
CCL20	CCL2	P13500	962
CCL20	CCL3	P10147	939
CCL20	CXCL1	P09341	929
CCL20	ACKR4	Q9NPB9	928
CCL20	CCR1	P32246	926
CCL20	CCL19	Q99731	923
CCL20	IL1B	P01584	903
CCL20	CCL5	P13501	893
CCL20	CXCR4	P30991	885

IntAct

17 interactions, top by confidence:

A	B	Type	Score
CCL20	RALBP1	psi-mi:“MI:0915”(physical association)	0.590
RALBP1	CCL20	psi-mi:“MI:0915”(physical association)	0.590
CCL20	CCL5	psi-mi:“MI:0407”(direct interaction)	0.560
CCL20	PF4	psi-mi:“MI:0407”(direct interaction)	0.560
CCL20	CXCL12	psi-mi:“MI:0407”(direct interaction)	0.560
CCL20	crmD	psi-mi:“MI:0407”(direct interaction)	0.440
OPG002	CCL20	psi-mi:“MI:0407”(direct interaction)	0.440
CCL20	XCL2	psi-mi:“MI:0407”(direct interaction)	0.440
CCL20	CXCL5	psi-mi:“MI:0407”(direct interaction)	0.440
CCL20	CXCL11	psi-mi:“MI:0407”(direct interaction)	0.440
CCL20	CXCL17	psi-mi:“MI:0407”(direct interaction)	0.440
TRAF6	CCL20	psi-mi:“MI:0915”(physical association)	0.400
CCL20	TGFB3	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (14): CCL20 (Protein-RNA), CCL5 (Reconstituted Complex), CXCL11 (Reconstituted Complex), CXCL12 (Reconstituted Complex), CXCL17 (Reconstituted Complex), PF4 (Reconstituted Complex), CXCL5 (Reconstituted Complex), XCL2 (Reconstituted Complex), CCL20 (Reconstituted Complex), CCL20 (Reconstituted Complex), CCL20 (Affinity Capture-MS), CCL20 (Affinity Capture-MS), CCL20 (Proximity Label-MS), TGFB3 (Two-hybrid)

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: O00175, O00585, O15467, O70460, O89093, O97919, P10147, P10148, P10855, P13236, P13500, P13501, P14097, P14844, P16619, P28291, P28292, P30882, P42831, P46632, P48298, P49873, P50229, P50230, P50231, P51670, P51671, P52203, P55773, P55774, P61274, P61275, P78556, P80075, P80098, P80343, P82943, P84444, P86792, P86793

SIGNOR signaling

6 interactions.

A	Effect	B	Mechanism
hsa-miR-21-5p	“down-regulates quantity by repression”	CCL20	“post transcriptional regulation”
CCL20	“up-regulates activity”	CCR6	binding
NfKb-p65/p50	“up-regulates quantity by expression”	CCL20	“transcriptional regulation”
CEBPD	“up-regulates quantity by expression”	CCL20	“transcriptional regulation”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 12 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.

GO biological processes:

GO term	Partners	Fold	FDR
chemokine-mediated signaling pathway	5	162.0×	1e-08
chemotaxis	5	68.0×	5e-07
inflammatory response	5	18.9×	1e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	7
Likely benign	4
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

149 predictions. Top by Δscore:

Variant	Effect	Δscore
2:227813984:GAAG:G	donor_gain	1.0000
2:227813986:AG:A	donor_gain	1.0000
2:227813986:AGG:A	donor_loss	1.0000
2:227813987:GG:G	donor_gain	1.0000
2:227813988:G:GG	donor_gain	1.0000
2:227815448:TTTTA:T	acceptor_loss	1.0000
2:227815449:TTTA:T	acceptor_loss	1.0000
2:227815450:TTA:T	acceptor_loss	1.0000
2:227815452:A:AG	acceptor_gain	1.0000
2:227815452:A:T	acceptor_loss	1.0000
2:227815453:G:GA	acceptor_gain	1.0000
2:227815453:G:T	acceptor_loss	1.0000
2:227815453:GC:G	acceptor_gain	1.0000
2:227815453:GCA:G	acceptor_gain	1.0000
2:227815453:GCAGC:G	acceptor_gain	1.0000
2:227815564:ATCAT:A	donor_gain	1.0000
2:227815565:TCAT:T	donor_gain	1.0000
2:227815566:CAT:C	donor_gain	1.0000
2:227815567:AT:A	donor_gain	1.0000
2:227815567:ATGT:A	donor_loss	1.0000
2:227815568:TGTA:T	donor_loss	1.0000
2:227815569:G:GA	donor_loss	1.0000
2:227815569:G:GG	donor_gain	1.0000
2:227815570:TAAG:T	donor_loss	1.0000
2:227816304:CA:C	acceptor_loss	1.0000
2:227816305:A:AG	acceptor_gain	1.0000
2:227816306:G:GA	acceptor_gain	1.0000
2:227816306:GCTTT:G	acceptor_gain	1.0000
2:227816380:CTCAG:C	donor_loss	1.0000
2:227816381:TCAGG:T	donor_loss	1.0000

AlphaMissense

631 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:227816309:T:C	F65S	0.993
2:227815522:T:C	F49L	0.992
2:227815524:C:A	F49L	0.992
2:227815524:C:G	F49L	0.992
2:227816358:G:C	W81C	0.991
2:227816358:G:T	W81C	0.991
2:227816335:T:A	C74S	0.986
2:227816336:G:C	C74S	0.986
2:227815549:T:A	C58S	0.984
2:227815550:G:C	C58S	0.984
2:227816335:T:C	C74R	0.973
2:227815474:T:A	C33S	0.972
2:227815475:G:C	C33S	0.972
2:227816336:G:A	C74Y	0.972
2:227815550:G:A	C58Y	0.970
2:227815562:C:A	A62D	0.970
2:227815533:G:C	Q52H	0.969
2:227815533:G:T	Q52H	0.969
2:227815561:G:C	A62P	0.969
2:227816309:T:G	F65C	0.969
2:227816337:C:G	C74W	0.969
2:227815471:T:A	C32S	0.961
2:227815472:G:C	C32S	0.961
2:227815523:T:C	F49S	0.961
2:227815549:T:C	C58R	0.961
2:227816338:G:C	A75P	0.961
2:227816356:T:A	W81R	0.958
2:227816356:T:C	W81R	0.958
2:227815474:T:C	C33R	0.957
2:227815550:G:T	C58F	0.957

dbSNP variants (sampled 300 via entrez): RS1000637413 (2:227817189 C>G), RS1000749225 (2:227812991 T>C), RS1000877730 (2:227815286 G>A), RS1001591137 (2:227817907 C>T), RS1001622432 (2:227817579 T>A), RS1001864826 (2:227812193 T>C), RS1001961169 (2:227815857 G>A,T), RS1002296000 (2:227812503 T>G), RS1002330363 (2:227816203 T>C), RS1003601284 (2:227814834 T>C), RS1004143263 (2:227816561 G>A,T), RS1004172923 (2:227816864 T>C), RS1004445886 (2:227812043 C>T), RS1004812682 (2:227817850 T>G), RS1005161926 (2:227814901 C>A,G,T)

Disease associations

OMIM: gene MIM:601960 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

17 associations (top):

Study	Trait	p-value
GCST000094_2	Blood pressure	3.000000e-07
GCST001959_4	Eating disorders (purging via substances)	2.000000e-06
GCST003043_148	Inflammatory bowel disease	2.000000e-10
GCST003044_125	Crohn’s disease	6.000000e-06
GCST003045_53	Ulcerative colitis	3.000000e-08
GCST003129_1	Primary biliary cholangitis	2.000000e-10
GCST005038_50	Allergic disease (asthma, hay fever or eczema)	3.000000e-12
GCST007797_38	Asthma onset (childhood vs adult)	7.000000e-11
GCST007798_51	Asthma	3.000000e-07
GCST007800_4	Asthma (childhood onset)	2.000000e-19
GCST007995_11	Asthma (childhood onset)	4.000000e-12
GCST009798_81	Asthma	1.000000e-09
GCST010042_116	Asthma	2.000000e-12
GCST010043_104	Asthma	1.000000e-14
GCST010984_8	Allergic disease (asthma, hay fever and/or eczema) (multivariate analysis)	5.000000e-13
GCST010985_7	Allergic disease (asthma, hay fever and/or eczema) (age of onset)	5.000000e-13
GCST90014325_37	Asthma	2.000000e-08

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0006336	diastolic blood pressure
EFO:0004847	age at onset

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	increases expression	6
Lipopolysaccharides	decreases reaction, increases expression, affects response to substance, affects cotreatment	6
Silicon Dioxide	increases expression	6
Tetrachlorodibenzodioxin	affects cotreatment, increases expression, affects expression	6
Tobacco Smoke Pollution	affects expression, decreases expression, increases expression	6
sodium arsenite	increases expression, increases abundance	5
Cyclosporine	affects expression, increases expression	5
Particulate Matter	increases abundance, increases expression, affects cotreatment	5
Arsenic	affects methylation, decreases expression, increases abundance, increases expression	4
Estradiol	affects expression, affects cotreatment, decreases expression, increases expression	4
zinc chloride	increases expression	3
1-nitropyrene	increases expression	3
perfluoro-n-nonanoic acid	decreases expression, increases expression, affects cotreatment	3
Cannabidiol	decreases reaction, increases expression	3
Sodium Dodecyl Sulfate	affects reaction, increases secretion, increases expression	3
Aflatoxin B1	affects expression, decreases methylation, increases expression	3
Asbestos, Crocidolite	increases expression	3
Cadmium Chloride	increases expression, decreases expression, increases abundance, increases secretion	3
bisphenol A	affects expression, increases expression, increases secretion	2
deoxynivalenol	increases expression	2
ferrous sulfate	increases expression	2
nickel sulfate	affects reaction, increases secretion	2
perfluorooctane sulfonic acid	affects cotreatment, increases expression, decreases expression	2
(+)-JQ1 compound	decreases expression, affects cotreatment	2
Zoledronic Acid	increases expression	2
Vorinostat	affects cotreatment, increases expression, decreases expression	2
Aerosols	decreases expression, increases expression	2
Air Pollutants	increases abundance, increases expression	2
Calcitriol	decreases expression, increases expression	2
Cisplatin	increases expression	2

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B1MI	Abcam HeLa CCL20 KO	Cancer cell line	Female

Clinical trials (associated diseases)

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