CXCL9

Summary

CXCL9 (C-X-C motif chemokine ligand 9, HGNC:7098) is a protein-coding gene on chromosome 4q21.1, encoding C-X-C motif chemokine 9 (Q07325). Cytokine that affects the growth, movement, or activation state of cells that participate in immune and inflammatory response.

This antimicrobial gene is part of a chemokine superfamily that encodes secreted proteins involved in immunoregulatory and inflammatory processes. The protein encoded is thought to be involved in T cell trafficking. The encoded protein binds to C-X-C motif chemokine 3 and is a chemoattractant for lymphocytes but not for neutrophils.

Source: NCBI Gene 4283 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 23 total
• MANE Select transcript: NM_002416

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:7098
Approved symbol	CXCL9
Name	C-X-C motif chemokine ligand 9
Location	4q21.1
Locus type	gene with protein product
Status	Approved
Aliases	SCYB9, Humig, crg-10
Ensembl gene	ENSG00000138755
Ensembl biotype	protein_coding
OMIM	601704
Entrez	4283

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000264888

RefSeq mRNA: 1 — MANE Select: NM_002416 NM_002416

CCDS: CCDS34014

Canonical transcript exons

ENST00000264888 — 4 exons

Exon	Start	End
ENSE00000577718	76006148	76006274
ENSE00000800843	76004809	76004893
ENSE00001193228	76001275	76003699
ENSE00001193235	76007386	76007509

Expression profiles

Bgee: expression breadth ubiquitous, 198 present calls, max score 94.08.

FANTOM5 (CAGE): breadth broad, TPM avg 7.5781 / max 1052.8951, expressed in 191 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
52618	7.5781	191

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
vermiform appendix	UBERON:0001154	94.08	gold quality
lymph node	UBERON:0000029	92.32	gold quality
caecum	UBERON:0001153	87.66	gold quality
epithelium of nasopharynx	UBERON:0001951	86.32	gold quality
nasopharynx	UBERON:0001728	86.31	gold quality
superficial temporal artery	UBERON:0001614	85.44	gold quality
rectum	UBERON:0001052	84.94	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	83.98	gold quality
palpebral conjunctiva	UBERON:0001812	83.55	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	80.71	gold quality
gall bladder	UBERON:0002110	80.54	gold quality
parietal pleura	UBERON:0002400	79.77	gold quality
thymus	UBERON:0002370	79.36	gold quality
decidua	UBERON:0002450	79.32	gold quality
germinal epithelium of ovary	UBERON:0001304	79.02	gold quality
pleura	UBERON:0000977	78.79	gold quality
tonsil	UBERON:0002372	77.75	gold quality
periodontal ligament	UBERON:0008266	77.48	gold quality
pericardium	UBERON:0002407	77.04	gold quality
ileal mucosa	UBERON:0000331	76.85	gold quality
right lung	UBERON:0002167	76.75	gold quality
visceral pleura	UBERON:0002401	76.39	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	73.81	gold quality
metanephric glomerulus	UBERON:0004736	73.66	gold quality
pancreatic ductal cell	CL:0002079	73.18	silver quality
lower lobe of lung	UBERON:0008949	73.00	gold quality
spleen	UBERON:0002106	72.69	gold quality
nasal cavity epithelium	UBERON:0005384	71.84	gold quality
diaphragm	UBERON:0001103	71.77	gold quality
lung	UBERON:0002048	71.75	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-GEOD-111727	yes	411.10
E-MTAB-7381	no	2045.60
E-ANND-3	no	3.25

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CEBPB, IRF4, IRF8, JUN, NFKB1, NFKB, RELA, SPI1, STAT1, STAT3, STAT5A, STAT5B, STAT6, ZNF236

miRNA regulators (miRDB)

128 targeting CXCL9, 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-4262	100.00	73.26	3931
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-4481	100.00	66.42	1669
HSA-MIR-4425	100.00	67.59	1049
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-4745-5P	99.98	65.95	1028
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-433-3P	99.98	69.37	1203
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-3605-5P	99.96	67.12	932
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488
HSA-MIR-548AP-5P	99.94	71.14	3489

Literature-anchored findings (GeneRIF, showing 40)

• The IFN-gamma inducible MIG protein behaves as a homing chemokine constitutively expressed in human brain microvascular endothelial cells and astrocytes. (PMID:12162873)
• Gene expression is predictive for the individual response of children with chronic allograft nephropathy to mycophenolate mofetil. (PMID:12270371)
• that IFNgamma stimulates the production of IP-10 and Mig in the SS ductal epithelium, and that IP-10 and Mig are involved in the accumulation of T cell infiltrates in the Sjogren syndrome salivary gland. (PMID:12384933)
• A higher amount of MIG mRNA is expressed after exposure of keratinocytes to interferon-gamma, leading to migration of T cells from the dermis to the epidermis and representing a second step of chemotaxis following T cell recruitment from blood. (PMID:12847282)
• CCR3 functional responses are regulated by both CXCR3 and its ligands CXCL9, CXCL10 and CXCL11. (PMID:12884299)
• Constitutive NF-kappaB activity is required for the induced gene expression of CXCL9 in tumour cell lines in response to IFNgamma. (PMID:12946268)
• Peak of expression of CXCL9 and CXCL10 occurred 4 days before CD8+ T cells infiltrated infected tissues. CXCL9 and CXCL10 may play role early during immune response against rickettsial infections. (PMID:14507644)
• MIG and IP-10 are cleaved by gelatinase B and neutrophil collagenase (PMID:14550288)
• The chemokine CXCL9, usually associated with Th1 cells, is elevated in serum of patients with acute Syndenham’s chorea. (PMID:15081261)
• Serum Mig levels in atopic dermatitis patients were significantly higher than those in control subjects (PMID:15113590)
• CXCL9, CXCL10, and CXCL11 functions are mediated by intracellular domains of CXCR3 (PMID:15150261)
• Increased expression of the interferon-induced angiostatic ELR- CXC chemokines is a feature of juvenile DM that parallels the degree of vasculopathy in patients with the disease (PMID:16200621)
• This CXCR3 ligand has the ability to activate biochemical (e.g., PtdIns 3-kinase and MAP kinase activation) and functional events (actin reorganization) in intestinal myofibroblasts. (PMID:16210647)
• Increased plasma monokine induced by gamma interferon (MIG) levels in daughters and sisters of primary biliary cirrhosis (PBC) patients demonstrates involvement of MIG interaction with its receptor CXCR3 as a familial risk factor for PBC. (PMID:16243485)
• Both a Th1 chemoattractant (CXCL9) and Th2 chemoattractants, CCL17 and CCL22, cooperatively play a role in the development of autoimmune blistering disease. (PMID:16583210)
• prolactin may enhance IFN-gamma-induced CXCL9, CXCL10, and CXCL11 production in keratinocytes (PMID:17255201)
• A novel innate defense mechanism against invasive bacteria on epithelial surfaces is reported in pharyngeal cells expressing. (PMID:17262710)
• Data suggest atherosclerotic inflammation may be a trigger for sclerosis in calcified stenotic aortic valves through upregulation TGF-beta, VAP-1, MIG and Eotaxin3, which is only partially inhibited by previous statin therapy. (PMID:17490641)
• During treatment of ulceretive colitis with corticosteroids CXCL1/CXCL9 were decreased. (PMID:17703315)
• serum IP-10 and MIG levels were significantly higher in lymphoproliferative disease of granular lymphocytes patients than in healthy donors, and MIG expression was associated with the number of circulating LGLs (PMID:17875534)
• Data may contribute to a better understanding of the pathophysiology underlying Crohn’s disease. (PMID:17892861)
• In summary, both GGS (Streptococcus dysgalactiae subsp. equisimilis) and GAS (Streptococcus pyogenes) evoke MIG/CXCL9 expression but they differ in susceptibility to its antibacterial effects. (PMID:17975089)
• Inflammatory chemokine CXCL9 triggers lymphocyte function-associated antigen-1 (LFA-1) adhesiveness in a RhoA-independent manner and without triggering integrin extension. (PMID:18292502)
• finding a constitutive expression of MIG/CXCL9 in the male urogenital tracts suggests roles for this chemokine both in host defense and during early phases of fertilization (PMID:18338951)
• primary renal disease showed significant increased levels of urinary CXCL8 and CXCL9 compared to controls (PMID:18413205)
• Graves’ disease patients who relapsed or went into remission had significantly different levels of CXCL9. (PMID:18415893)
• plasma levels are significantly higher in Alzheimer’s disease patients (PMID:18930766)
• COMP, CXCL9 and KRT19 play an important role in the pathopoiesis of oral submucosal fibrosis. (PMID:19087608)
• The interactions between CXCL9, CXCL10 and CXCL12 expressed in decidua and villi and CXCR3, CXCR4 expressed in CD(56)(+) decidua NK cells may influence the CD(56)(+)NK cell recruitment at the maternal-fetal interface. (PMID:19134328)
• HBx protein induced MIG expression in a dose-dependent manner (PMID:19157479)
• SpeB destroys most of the signaling and antibacterial properties of chemokines expressed by an inflamed epithelium. (PMID:19274094)
• positive correlation between ESAT6-induced IFNgamma and CXCL9 was present in all TB patients, but IFNgamma and CCL2 was only correlated in LNTB (PMID:19340290)
• Report antifibrotic effects of CXCL9 and its receptor CXCR3 in livers of mice and humans. (PMID:19344719)
• Although data did not find an association of the CXCL9 and CXCL10 polymorphisms with type 1 diabetes in the German population, it cannot discard their role in other populations or other autoimmune diseases. (PMID:19410617)
• urinary CXCL9 and CXCL10 concentrations demonstrated a close correlation with the extent of subclinical tubulitis, while no such distinction was seen for urinary CXCL4, CXCL11, CCL2 and tubular injury markers. (PMID:19459809)
• There are disease-specific associations between anti-Jo-1 antibody-positive interstitial lung disease and serum levels of CRP as well as the interferon-gamma-inducible chemokines CXCL9 and CXCL10. (PMID:19565490)
• Significantly lower serum concentration of CXCL-9, CXCL-10, CCL-17, and IL-18 and higher concentration of CXCL-12 and CCL-27 were found in atopic dermatitis patients under 10 years old when compared to Control. (PMID:19639049)
• The three-dimensional structure of CXCL9 and CXCR3, and, successively, of the CXCL9/CXCR3 complex were modelled in comparison to CXCL10/CXCR3 and CXCL11/CXCR3 complexes. (PMID:19800124)
• higher expression in the genital mucosa than in the blood of HIV-1-infected women from Benin (PMID:19898927)
• CXCL9 may have a role in acute rejection and graft failure in kidney graft recipients (PMID:19929857)

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
danio_rerio	cxcl11.5	ENSDARG00000092423
danio_rerio	cxcl11.7	ENSDARG00000093779
danio_rerio	cxcl11.6	ENSDARG00000094706
danio_rerio	cxcl11.8	ENSDARG00000095747
danio_rerio	cxcl11.4	ENSDARG00000101138
danio_rerio	cxcl11.3	ENSDARG00000102514
mus_musculus	Cxcl9	ENSMUSG00000029417
rattus_norvegicus	Cxcl9	ENSRNOG00000022242

Paralogs (12): CXCL2 (ENSG00000081041), PF4V1 (ENSG00000109272), CXCL6 (ENSG00000124875), CXCL13 (ENSG00000156234), CXCL3 (ENSG00000163734), CXCL5 (ENSG00000163735), PPBP (ENSG00000163736), PF4 (ENSG00000163737), CXCL1 (ENSG00000163739), CXCL10 (ENSG00000169245), CXCL11 (ENSG00000169248), CXCL8 (ENSG00000169429)

Protein

Protein identifiers

C-X-C motif chemokine 9 — Q07325 (reviewed: Q07325)

Alternative names: Gamma-interferon-induced monokine, Monokine induced by interferon-gamma, Small-inducible cytokine B9

All UniProt accessions (1): Q07325

UniProt curated annotations — full annotation on UniProt →

Function. Cytokine that affects the growth, movement, or activation state of cells that participate in immune and inflammatory response. Chemotactic for activated T-cells. Binds to CXCR3.

Subcellular location. Secreted.

Induction. By IFNG/IFN-gamma. The induction is enhanced by TNF in dermal fibroblasts and vein endothelial cells.

Similarity. Belongs to the intercrine alpha (chemokine CxC) family.

RefSeq proteins (1): NP_002407* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001089	Chemokine_CXC	Family
IPR001811	Chemokine_IL8-like_dom	Domain
IPR018048	Chemokine_CXC_CS	Conserved_site
IPR033899	CXC_Chemokine_domain	Domain
IPR036048	Interleukin_8-like_sf	Homologous_superfamily
IPR039809	Chemokine_b/g/d	Family

Pfam: PF00048

UniProt features (6 total): disulfide bond 2, signal peptide 1, chain 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
9P0K	ELECTRON MICROSCOPY	3.5

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q07325-F1	87.51	0.56

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): 31–58, 33–74

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-380108	Chemokine receptors bind chemokines
R-HSA-418594	G alpha (i) signalling events

MSigDB gene sets: 371 (showing top): GOBP_POSITIVE_REGULATION_OF_CALCIUM_ION_TRANSPORT, MODULE_92, WALLACE_PROSTATE_CANCER_RACE_UP, GOBP_ANTIMICROBIAL_HUMORAL_RESPONSE, MCLACHLAN_DENTAL_CARIES_UP, GOBP_MYELOID_LEUKOCYTE_MIGRATION, GOBP_CELL_CHEMOTAXIS, GOBP_INFLAMMATORY_RESPONSE, GOBP_RESPONSE_TO_PEPTIDE, GOBP_CELLULAR_RESPONSE_TO_LIPID, GOBP_CELLULAR_RESPONSE_TO_BIOTIC_STIMULUS, MODULE_64, KOINUMA_COLON_CANCER_MSI_UP, GOBP_STRIATED_MUSCLE_CELL_DIFFERENTIATION, GOCC_CELL_SURFACE

GO Biological Process (18): chemotaxis (GO:0006935), defense response (GO:0006952), inflammatory response (GO:0006954), immune response (GO:0006955), cellular defense response (GO:0006968), signal transduction (GO:0007165), G protein-coupled receptor signaling pathway (GO:0007186), adenylate cyclase-activating G protein-coupled receptor signaling pathway (GO:0007189), cell-cell signaling (GO:0007267), neutrophil chemotaxis (GO:0030593), regulation of cell population proliferation (GO:0042127), positive regulation of myoblast differentiation (GO:0045663), positive regulation of release of sequestered calcium ion into cytosol (GO:0051281), defense response to virus (GO:0051607), chemokine-mediated signaling pathway (GO:0070098), cellular response to lipopolysaccharide (GO:0071222), positive regulation of myoblast fusion (GO:1901741), response to bacterium (GO:0009617)

GO Molecular Function (5): cytokine activity (GO:0005125), chemokine activity (GO:0008009), CXCR chemokine receptor binding (GO:0045236), CXCR3 chemokine receptor binding (GO:0048248), protein binding (GO:0005515)

GO Cellular Component (3): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), external side of plasma membrane (GO:0009897)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Peptide ligand-binding receptors	1
GPCR downstream signalling	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
defense response	3
cell communication	2
signaling	2
regulation of cellular process	2
chemokine receptor binding	2
response to chemical	1
taxis	1
response to stress	1
immune system process	1
response to stimulus	1
cellular process	1
cellular response to stimulus	1
G protein-coupled receptor activity	1
signal transduction	1
adenylate cyclase-modulating G protein-coupled receptor signaling pathway	1
adenylate cyclase activator activity	1
granulocyte chemotaxis	1
neutrophil migration	1
cell population proliferation	1
myoblast differentiation	1
positive regulation of cell differentiation	1
regulation of myoblast differentiation	1
release of sequestered calcium ion into cytosol	1
regulation of release of sequestered calcium ion into cytosol	1
positive regulation of calcium ion transmembrane transport	1
response to virus	1
G protein-coupled receptor signaling pathway	1
cytokine-mediated signaling pathway	1
cellular response to chemokine	1
response to lipopolysaccharide	1
cellular response to molecule of bacterial origin	1
cellular response to lipid	1
cellular response to oxygen-containing compound	1
myoblast fusion	1
positive regulation of syncytium formation by plasma membrane fusion	1
regulation of myoblast fusion	1
response to other organism	1
receptor ligand activity	1
cytokine activity	1
cell chemotaxis	1

Protein interactions and networks

STRING

2692 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CXCL9	CXCR3	P49682	999
CXCL9	CCR5	P51681	995
CXCL9	CD79B	P40259	989
CXCL9	CD79A	P11912	988
CXCL9	CXCR4	P30991	983
CXCL9	CCR2	P41597	979
CXCL9	CXCL12	P48061	956
CXCL9	CCL5	P13501	949
CXCL9	CCR6	P51684	945
CXCL9	CCRL2	O00421	945
CXCL9	CXCR6	O00574	944
CXCL9	CXCL13	O43927	938
CXCL9	CXCR2	P25025	926
CXCL9	IFNG	P01579	923
CXCL9	PF4	P02776	922

IntAct

200 interactions, top by confidence:

A	B	Type	Score
SFTPC	CXCL9	psi-mi:“MI:0915”(physical association)	0.780
CXCL9	SFTPC	psi-mi:“MI:0915”(physical association)	0.780
CXCL9	DPP4	psi-mi:“MI:0407”(direct interaction)	0.620
CXCL9	DPP4	psi-mi:“MI:0194”(cleavage reaction)	0.620
PTPN5	CXCL9	psi-mi:“MI:0915”(physical association)	0.560
CXCL9	SYNE4	psi-mi:“MI:0915”(physical association)	0.560
CXCL9	KASH5	psi-mi:“MI:0915”(physical association)	0.560
CXCL9	PTPN5	psi-mi:“MI:0915”(physical association)	0.560
SYNE4	CXCL9	psi-mi:“MI:0915”(physical association)	0.560
KASH5	CXCL9	psi-mi:“MI:0915”(physical association)	0.560
CXCL9	CCL5	psi-mi:“MI:0407”(direct interaction)	0.560
CXCL9	PF4	psi-mi:“MI:0407”(direct interaction)	0.560
CXCL9	CXCL12	psi-mi:“MI:0407”(direct interaction)	0.560
PF4	CXCL9	psi-mi:“MI:0407”(direct interaction)	0.560
CXCL9	GPR42	psi-mi:“MI:0915”(physical association)	0.560
CXCL9	TMEM234	psi-mi:“MI:0915”(physical association)	0.560
CXCL9	AQP6	psi-mi:“MI:0915”(physical association)	0.560
CXCL9	FFAR2	psi-mi:“MI:0915”(physical association)	0.560
CXCL9	NEMP1	psi-mi:“MI:0915”(physical association)	0.560
CXCL9	AMIGO1	psi-mi:“MI:0915”(physical association)	0.560
CXCL9	MTIF3	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (86): SFTPC (Two-hybrid), PTPN5 (Two-hybrid), CCDC155 (Two-hybrid), SYNE4 (Two-hybrid), CXCL9 (Biochemical Activity), CXCL9 (Reconstituted Complex), CXCL9 (Two-hybrid), CXCL9 (Two-hybrid), CXCL9 (Two-hybrid), CXCL9 (Two-hybrid), CXCL9 (Two-hybrid), CXCL9 (Two-hybrid), CXCL9 (Two-hybrid), CXCL9 (Two-hybrid), CXCL9 (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: A0A0R4INB9, A9QWP9, A9QWQ1, B0R191, O14625, O46678, P02775, P02778, P08317, P09341, P12850, P17515, P19875, P19876, P22952, P42830, P48973, P50228, P80162, P80221, P82535, P97885, Q07325, Q2KIQ8, Q5KSV9, Q865F5, Q8MIZ1, Q9JHH5, O46675, O46676, O46677, O55235, O62812, P02776, P06765, P09340, P10145, P10720, P10889, P14095

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
CXCL9	“up-regulates activity”	CXCR3	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 74 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Chemokine receptors bind chemokines	13	51.8×	1e-17
Class A/1 (Rhodopsin-like receptors)	7	11.0×	1e-04
Peptide ligand-binding receptors	7	11.0×	1e-04
GPCR ligand binding	7	9.6×	2e-04
G alpha (i) signalling events	10	8.3×	2e-05
Signaling by GPCR	7	6.0×	3e-03

GO biological processes:

GO term	Partners	Fold	FDR
eosinophil chemotaxis	6	67.6×	2e-08
chemokine-mediated signaling pathway	11	54.8×	3e-14
monocyte chemotaxis	5	44.7×	6e-06
antimicrobial humoral immune response mediated by antimicrobial peptide	11	27.4×	5e-11
neutrophil chemotaxis	6	26.4×	7e-06
chemotaxis	11	23.0×	2e-10
cell chemotaxis	6	17.1×	5e-05
cell-cell signaling	12	12.9×	1e-08

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	19
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

226 predictions. Top by Δscore:

Variant	Effect	Δscore
4:76003581:A:AC	donor_gain	1.0000
4:76003700:C:CC	acceptor_gain	1.0000
4:76004795:T:TA	donor_gain	1.0000
4:76004889:TAGCA:T	acceptor_gain	1.0000
4:76004892:CA:C	acceptor_gain	1.0000
4:76004894:C:CC	acceptor_gain	1.0000
4:76006145:TA:T	donor_loss	1.0000
4:76006146:A:AC	donor_gain	1.0000
4:76006146:ACAT:A	donor_loss	1.0000
4:76006147:C:CC	donor_gain	1.0000
4:76006147:CA:C	donor_gain	1.0000
4:76006147:CAT:C	donor_gain	1.0000
4:76006147:CATG:C	donor_gain	1.0000
4:76006147:CATGA:C	donor_gain	1.0000
4:76006270:GGTTC:G	acceptor_gain	1.0000
4:76006271:GTTC:G	acceptor_gain	1.0000
4:76006272:TTC:T	acceptor_gain	1.0000
4:76006273:TC:T	acceptor_gain	1.0000
4:76006274:CC:C	acceptor_gain	1.0000
4:76006275:C:CC	acceptor_gain	1.0000
4:76006275:C:CG	acceptor_loss	1.0000
4:76006275:C:T	acceptor_gain	1.0000
4:76007382:TTAC:T	donor_loss	1.0000
4:76007383:TACCT:T	donor_loss	1.0000
4:76007384:A:AG	donor_loss	1.0000
4:76007385:C:CA	donor_loss	1.0000
4:76003582:T:C	donor_gain	0.9900
4:76003695:CTGAC:C	acceptor_gain	0.9900
4:76003696:TGAC:T	acceptor_gain	0.9900
4:76003697:GAC:G	acceptor_gain	0.9900

AlphaMissense

813 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:76004891:G:T	A65D	0.932
4:76006247:C:G	C31S	0.902
4:76006248:A:T	C31S	0.902
4:76004864:C:G	C74S	0.901
4:76004865:A:T	C74S	0.901
4:76004831:A:G	L85P	0.896
4:76004861:A:G	L75P	0.885
4:76004865:A:G	C74R	0.881
4:76006193:A:G	L49P	0.879
4:76006241:C:G	C33S	0.874
4:76006242:A:T	C33S	0.874
4:76004863:A:C	C74W	0.868
4:76006166:C:G	C58S	0.864
4:76006167:A:T	C58S	0.864
4:76006202:A:G	L46S	0.861
4:76004818:C:A	W89C	0.860
4:76004818:C:G	W89C	0.860
4:76004892:C:G	A65P	0.860
4:76006248:A:G	C31R	0.857
4:76006166:C:T	C58Y	0.847
4:76006151:A:C	I63S	0.843
4:76006242:A:G	C33R	0.839
4:76006167:A:G	C58R	0.838
4:76006165:G:C	C58W	0.827
4:76006153:T:A	E62D	0.817
4:76006153:T:G	E62D	0.817
4:76004850:A:G	S79P	0.815
4:76004865:A:C	C74G	0.813
4:76006166:C:A	C58F	0.805
4:76006151:A:G	I63T	0.800

dbSNP variants (sampled 300 via entrez): RS1001123018 (4:76006913 T>C), RS1001781734 (4:76006563 A>G), RS1002110613 (4:76005253 G>T), RS1002274101 (4:76003757 T>C), RS1002789859 (4:76005590 T>A,C), RS1002943542 (4:76006460 A>G), RS10031051 (4:76003418 T>C), RS10031452 (4:76003780 T>A,C,G), RS1004804216 (4:76004174 G>A), RS1005063683 (4:76002982 G>A,C,T), RS1005508255 (4:76008221 A>G,T), RS1005737531 (4:76005903 T>A,C), RS1006386743 (4:76002082 G>A), RS1006746049 (4:76001737 G>A), RS1006838286 (4:76006243 G>A)

Disease associations

OMIM: gene MIM:601704 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST006622_14	Neonatal cytokine/chemokine levels (fetal genetic effect)	2.000000e-14
GCST007009_3	Hippocampal volume	7.000000e-07
GCST007009_4	Hippocampal volume	3.000000e-07

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0004747	protein measurement
EFO:0007959	fetal genotype effect measurement
EFO:0008057	C-X-C motif chemokine 11 measurement
EFO:0005035	hippocampal volume

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Lipopolysaccharides	decreases reaction, increases expression, increases secretion	4
Calcium	decreases activity, decreases uptake, increases cleavage, increases abundance, increases activity (+3 more)	2
Nickel	increases expression	2
coagulin-L	decreases reaction, increases expression	1
TL8-506	affects cotreatment, increases expression, increases secretion	1
apocarotenal	increases expression	1
2,4,5,2’,4’,5’-hexachlorobiphenyl	increases expression	1
sodium arsenite	decreases expression, decreases reaction	1
1,2-dielaidoylphosphatidylethanolamine	decreases expression	1
nickel chloride	decreases reaction, increases expression	1
perfluorooctanoic acid	affects cotreatment, decreases expression	1
CMF regimen	increases response to substance	1
S-(1,2-dichlorovinyl)cysteine	decreases reaction, increases expression	1
gadodiamide	increases expression	1
vanadium pentoxide	increases expression	1
perfluorooctane sulfonic acid	affects cotreatment, decreases expression	1
lipopolysaccharide, E. coli O26-B6	increases expression, decreases reaction	1
perfluorohexanesulfonic acid	affects cotreatment, decreases expression	1
tofacitinib	decreases expression	1
beta-hydroxy simvastatin acid	decreases expression	1
VPC32183	decreases reaction, increases expression	1
pevonedistat	affects expression	1
CL097 compound	increases secretion	1
tapinarof	decreases reaction, increases expression, increases reaction	1
Imatinib Mesylate	affects cotreatment, decreases reaction, increases secretion	1
Dimethyl Fumarate	decreases reaction, increases expression	1
Decitabine	affects methylation	1
Arsenic Trioxide	decreases expression	1
Ethanol	decreases expression	1
Arsenic	affects expression	1

Clinical trials (associated diseases)

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