CCL24

Summary

CCL24 (C-C motif chemokine ligand 24, HGNC:10623) is a protein-coding gene on chromosome 7q11.23, encoding C-C motif chemokine 24 (O00175). Chemotactic for resting T-lymphocytes, and eosinophils.

This 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 cytokine encoded by this gene displays chemotactic activity on resting T lymphocytes, a minimal activity on neutrophils, and is negative on monocytes and activated T lymphocytes. This protein also has antimicrobial activity, displaying an antibacterial effect on S. pneumoniae, S. aureus, Non-typeable H. influenzae, and P. aeruginosa. Finally, the protein is a strong suppressor of colony formation by a multipotential hematopoietic progenitor cell line.

Source: NCBI Gene 6369 — RefSeq curated summary.

At a glance

• GWAS associations: 16
• Clinical variants (ClinVar): 28 total — 1 pathogenic, 1 likely-pathogenic
• MANE Select transcript: NM_002991

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10623
Approved symbol	CCL24
Name	C-C motif chemokine ligand 24
Location	7q11.23
Locus type	gene with protein product
Status	Approved
Aliases	Ckb-6, MPIF-2, eotaxin-2, MPIF2
Ensembl gene	ENSG00000106178
Ensembl biotype	protein_coding
OMIM	602495
Entrez	6369

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 5 protein_coding

ENST00000222902, ENST00000416943, ENST00000967332, ENST00000967333, ENST00000967334

RefSeq mRNA: 2 — MANE Select: NM_002991 NM_001371193, NM_002991

CCDS: CCDS34670

Canonical transcript exons

ENST00000222902 — 3 exons

Exon	Start	End
ENSE00000696984	75813306	75813423
ENSE00001661780	75813643	75813806
ENSE00003899889	75810825	75811964

Expression profiles

Bgee: expression breadth ubiquitous, 133 present calls, max score 90.60.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.6342 / max 123.8716, expressed in 127 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
84385	0.4248	100
84383	0.1578	58
84386	0.0389	14
84384	0.0127	4

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
rectum	UBERON:0001052	90.60	gold quality
spleen	UBERON:0002106	90.29	gold quality
small intestine Peyer’s patch	UBERON:0003454	83.68	gold quality
small intestine	UBERON:0002108	81.59	gold quality
mucosa of transverse colon	UBERON:0004991	79.13	gold quality
vermiform appendix	UBERON:0001154	78.09	gold quality
caecum	UBERON:0001153	75.00	gold quality
duodenum	UBERON:0002114	74.56	gold quality
lymph node	UBERON:0000029	74.50	gold quality
transverse colon	UBERON:0001157	73.48	gold quality
jejunal mucosa	UBERON:0000399	73.02	gold quality
lower esophagus mucosa	UBERON:0035834	72.38	gold quality
buccal mucosa cell	CL:0002336	71.24	gold quality
right coronary artery	UBERON:0001625	70.80	gold quality
mucosa of sigmoid colon	UBERON:0004993	70.17	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	69.27	gold quality
intestine	UBERON:0000160	68.35	gold quality
colonic mucosa	UBERON:0000317	68.24	gold quality
gluteal muscle	UBERON:0002000	67.88	gold quality
triceps brachii	UBERON:0001509	67.84	gold quality
tendon of biceps brachii	UBERON:0008188	65.98	gold quality
jejunum	UBERON:0002115	65.67	gold quality
upper lobe of left lung	UBERON:0008952	65.11	gold quality
gall bladder	UBERON:0002110	65.10	gold quality
parotid gland	UBERON:0001831	64.17	gold quality
large intestine	UBERON:0000059	64.14	gold quality
colon	UBERON:0001155	63.74	gold quality
nasal cavity epithelium	UBERON:0005384	63.41	gold quality
upper lobe of lung	UBERON:0008948	63.36	gold quality
olfactory bulb	UBERON:0002264	62.50	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-MTAB-7303	no	7.98
E-ANND-3	no	1.13

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): GATA1, NR1H3

Literature-anchored findings (GeneRIF, showing 40)

• This protein is an eosinophil chemoattractant that is up-regulated by human rhinovirus infection in cultured bronchial epithelial cells. (PMID:11467997)
• alters eosinophil integrin function via mitogen-activated protein kinases (PMID:12034562)
• Pretreatment or co-treatment with each of the eotaxins augmented PMAtate-induced superoxide generation, concentration-dependent degranulation of eosinophil peroxidase, & potentiation of A23187-induced degranulation. (PMID:12192108)
• Intradermal injection of CCL24 induces recruitment of eosinophils, basophils, neutrophils, and macrophages as well as features of early- and late-phase allergic reactions in atopic and nonatopic volunteers. (PMID:12193745)
• Plasma eotaxin-2 concentrations differed in asthmatic patients with respect to aspirin intolerance and tolerance, indicating that eotaxin-2 may be differentially up-regulated according to aspirin intolerance. (PMID:16304252)
• Our results suggest that Eo2 +179T>C and Eo2 +275C>T of eotaxin-2 might be associated with the susceptibility of ulcerative colitis. (PMID:16391516)
• The expression of Eotaxin-1 and -2 in nasal polyposis and polyps was dramatically higher than in controls. (PMID:17438849)
• These data support the idea that CCL24/eotaxin-2 is part of the mechanism of CD4 lymphocyte activation paracrinally induced by Nef. (PMID:17630924)
• eotaxin-2 is a chemokine strongly associated with primary and metastatic tumors of colorectal origin (PMID:17908961)
• the ability to produce eotaxin-2/CCL24 is acquired during the differentiation into eosinophilic lineage which is dependent on GATA-1 expression (PMID:17917245)
• Developing lung expresses the eotaxins and functional CCR3 receptor. (PMID:18055844)
• After corticosteroid therapy, the expressions of Eotaxin and Eotaxin-2 in mucosal epithelia of nasal polyps were significantly decreased. (PMID:19522186)
• Data show that induction of CCL2 and CCL24 was directly mediated by ligand-activated retinoic acid receptors. (PMID:19828696)
• stimulates lung fibroblast proliferation and collagen synthesis (PMID:20143648)
• The mean gene expression level for CCL11, CCL24, CCL26 was higher in skin changes of atopic dermatitis patients than in uninvolved skin. (PMID:20236835)
• CCR3 is differentially expressed on inflammatory cells in rheumatoid arthritis, while eotaxin-2, a potent CCR3 agonist, is differentially expressed in active disease. (PMID:20659406)
• Serum CCL11 was increased in ulcerative colitis (UC) and less in Crohn’s disease (CD), whereas CCL24 and CCL26 were increased only in UC. Colon expression of the CCL’s was higher in UC vs. CD, and was induced by Th2 cytokines in colon epithelial cells. (PMID:21077277)
• The level of eotaxin expression and inflammatory cell count were measured in the material from nasal brushing in healthy controls and in patients with allergic rhinitis, asthma, and chronic obstructive pulmonary disease. (PMID:22846146)
• Phosphodiesterase 4 inhibitors, rolipram and RO-20-1724 have no effect on CCL24 expression in human primary bronchial epithelial cells. (PMID:22946025)
• Study shows that CCL24 levels were significantly increased in age-related macular degeneration (AMD) patients despite Avastin treatment as compared with normal controls and those without Avastin. (PMID:23025269)
• CCL11, CCL24, and CCL26 has a role in the recruitment of extravillous trophoblast into decidual tissue and vessels. (PMID:23477905)
• Pregnancy associated environments increased local CCL24/CCR3, supporting the process of decidualization in human early pregnancy. (PMID:23696919)
• CCL11, CCL24, and CCL26 are increased in TB patients; hence, it seems that TB suppresses Th1 and the classic function of macrophages subsequently by inducing the chemokines’ expression (PMID:24600981)
• these data suggest that CCL26 and CCL24 are likely involved in the pathogenesis of chronic nasal hypereosinophilia, with a complex cooperation and different involvement of the various members of eotaxin family. (PMID:24989688)
• CCL24 displays antimicrobial activity against S. pneumoniae, S. aureus, Non-typeable H. influenzae, and P. aeruginosa. (PMID:25377782)
• HMGB1 did not elicit chemotaxis of human eosinophils alone and had no effect in combination with the eosinophil chemotactic agent, eotaxin-2 (CCL24). (PMID:25774667)
• Review: eotaxins (CCL11, CCL24, and CCL26) play key role(s) during symptomatic inflammatory responses raised in response to allergic crisis of allergic asthma and atopic dermatitis (PMID:26861136)
• The eotaxin family currently includes three members: eotaxin-1 (CCL11), eotaxin-2 (CCL24), and eotaxin-3 (CCL26), and each was identified based on its ability to bind the chemokine receptor, CCR3 [Review]. (PMID:27664933)
• Study showed that CCL24 was upregulated in hepatocellular carcinoma (HCC) tissues and correlated with poor prognosis in HCC patients . Also, CCL24 was associated with the metastatic potential of HCC cell lines and promoted proliferation, migration, and invasion. (PMID:28042950)
• Mean eotaxin 2 concentrations in nasal fluid in patients with perennial allergic rhinitis and nonallergic and allergic chronic rhinosinusitis with nasal polyps patients were significantly higher in comparison to control subjects. (PMID:28587510)
• results revealed that melatonin attenuated chemokine CCL24 levels through inhibition of the JNK pathway to hinder human osteosarcoma cell invasion, thereby highlighting the therapeutic potential of melatonin for osteosarcoma metastasis. (PMID:29766567)
• This study concludes that serum CCL11, CCL24 and CCL26 are upregulated in primary biliary cholangitis (PBC); CCL11 and CCL26 are associated with fibrotic progression of PBC, but CCL24 is not. (PMID:30583236)
• Increased CCL24 and CXCL7 levels in the cerebrospinal fluid of patients with neurosyphilis. (PMID:32419252)
• Genetic control of CCL24, POR, and IL23R contributes to the pathogenesis of sarcoidosis. (PMID:32826979)
• The transcriptome-wide association search for genes and genetic variants which associate with BMI and gestational weight gain in women with type 1 diabetes. (PMID:33472578)
• CCL24 Protects Renal Function by Controlling Inflammation in Podocytes. (PMID:34221188)
• CCL24/CCR3 axis plays a central role in angiotensin II-induced heart failure by stimulating M2 macrophage polarization and fibroblast activation. (PMID:36131165)
• CCL24, CXCL9 and CXCL10 are increased in synovial fluid in patients with juvenile idiopathic arthritis requiring advanced treatment. (PMID:36342195)
• Eotaxin-2 and eotaxin-3 in malaria exposure and pregnancy. (PMID:36380370)
• CCL24 regulates biliary inflammation and fibrosis in primary sclerosing cholangitis. (PMID:37345655)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	ccl35.2	ENSDARG00000070378
danio_rerio	ccl35.1	ENSDARG00000103466
mus_musculus	Ccl24	ENSMUSG00000004814

Paralogs (26): CX3CL1 (ENSG00000006210), CCL26 (ENSG00000006606), CCL22 (ENSG00000102962), CCL17 (ENSG00000102970), 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), CCL18 (ENSG00000275385), CCL15 (ENSG00000275718), CCL4L2 (ENSG00000276070), CCL3L3 (ENSG00000276085), CCL14 (ENSG00000276409), CCL3 (ENSG00000277632)

Protein

Protein identifiers

C-C motif chemokine 24 — O00175 (reviewed: O00175)

Alternative names: CK-beta-6, Eosinophil chemotactic protein 2, Myeloid progenitor inhibitory factor 2, Small-inducible cytokine A24

All UniProt accessions (1): O00175

UniProt curated annotations — full annotation on UniProt →

Function. Chemotactic for resting T-lymphocytes, and eosinophils. Has lower chemotactic activity for neutrophils but none for monocytes and activated lymphocytes. Is a strong suppressor of colony formation by a multipotential hematopoietic progenitor cell line. Binds to CCR3.

Subcellular location. Secreted.

Tissue specificity. Activated monocytes and activated T lymphocytes.

Post-translational modifications. N-glycosylated.

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

RefSeq proteins (2): NP_001358122, NP_002982* (*=MANE)

Domains & families (InterPro)

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

Pfam: PF00048

UniProt features (18 total): strand 5, sequence variant 4, sequence conflict 2, disulfide bond 2, signal peptide 1, chain 1, turn 1, helix 1, glycosylation site 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
1EIG	SOLUTION NMR
1EIH	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O00175-F1	82.68	0.47

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): 33–58, 34–74

Glycosylation sites (1): 115

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 190 (showing top): RRAGTTGT_UNKNOWN, GOBP_REGULATION_OF_PROTEIN_POLYMERIZATION, GOBP_ANTIMICROBIAL_HUMORAL_RESPONSE, GOBP_REGULATION_OF_CELL_MORPHOGENESIS, GOBP_MYELOID_LEUKOCYTE_MIGRATION, GOBP_CELL_CHEMOTAXIS, GOBP_INFLAMMATORY_RESPONSE, GOBP_RESPONSE_TO_PEPTIDE, GOBP_POSITIVE_REGULATION_OF_VASCULATURE_DEVELOPMENT, GOBP_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_REGULATION_OF_LEUKOCYTE_MIGRATION, GOBP_CELL_CELL_SIGNALING, GOBP_LEUKOCYTE_CHEMOTAXIS, GOBP_REGULATION_OF_ACTIN_FILAMENT_BASED_PROCESS

GO Biological Process (17): positive regulation of endothelial cell proliferation (GO:0001938), chemotaxis (GO:0006935), inflammatory response (GO:0006954), immune response (GO:0006955), cytoskeleton organization (GO:0007010), signal transduction (GO:0007165), cell-cell signaling (GO:0007267), regulation of cell shape (GO:0008360), positive regulation of cell migration (GO:0030335), positive regulation of actin filament polymerization (GO:0030838), positive regulation of angiogenesis (GO:0045766), eosinophil chemotaxis (GO:0048245), positive regulation of inflammatory response (GO:0050729), cell chemotaxis (GO:0060326), antimicrobial humoral immune response mediated by antimicrobial peptide (GO:0061844), chemokine-mediated signaling pathway (GO:0070098), positive regulation of eosinophil migration (GO:2000418)

GO Molecular Function (6): chemokine activity (GO:0008009), CCR3 chemokine receptor binding (GO:0031728), receptor ligand activity (GO:0048018), 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
cell communication	2
signaling	2
cell migration	2
eosinophil migration	2
chemokine receptor binding	2
endothelial cell proliferation	1
regulation of endothelial cell proliferation	1
positive regulation of epithelial cell proliferation	1
response to chemical	1
taxis	1
defense response	1
immune system process	1
response to stimulus	1
organelle organization	1
cellular process	1
regulation of cellular process	1
cellular response to stimulus	1
regulation of cell morphogenesis	1
regulation of biological quality	1
regulation of cell migration	1
positive regulation of cell motility	1
actin filament polymerization	1
regulation of actin filament polymerization	1
positive regulation of protein polymerization	1
positive regulation of cytoskeleton organization	1
positive regulation of supramolecular fiber organization	1
angiogenesis	1
regulation of angiogenesis	1
positive regulation of vasculature development	1
granulocyte chemotaxis	1
inflammatory response	1
positive regulation of defense response	1
positive regulation of response to external stimulus	1
regulation of inflammatory response	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

Protein interactions and networks

STRING

1050 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CCL24	CCR3	P51677	999
CCL24	CCL23	P55773	861
CCL24	CCL17	Q92583	853
CCL24	CCL22	O00626	817
CCL24	CCR2	P41597	817
CCL24	CCL27	Q9Y4X3	812
CCL24	CCR1	P32246	812
CCL24	CXCL13	O43927	768
CCL24	CXCL10	P02778	755
CCL24	CXCR3	P49682	747
CCL24	CCL25	O15444	742
CCL24	CXCL8	P10145	734
CCL24	CCL20	P78556	728
CCL24	IL10	P22301	727
CCL24	IL13	P35225	726

IntAct

126 interactions, top by confidence:

A	B	Type	Score
CCL24	CCL5	psi-mi:“MI:0407”(direct interaction)	0.560
CCL5	CCL24	psi-mi:“MI:0407”(direct interaction)	0.560
CCL13	CCL24	psi-mi:“MI:0407”(direct interaction)	0.440
CCL21	CCL24	psi-mi:“MI:0407”(direct interaction)	0.440
XCL1	CCL24	psi-mi:“MI:0407”(direct interaction)	0.440
CXCL11	CCL24	psi-mi:“MI:0407”(direct interaction)	0.440
CCL24	CXCL11	psi-mi:“MI:0407”(direct interaction)	0.440
CCL24	MAST2	psi-mi:“MI:0407”(direct interaction)	0.440
CCL24	DLG3	psi-mi:“MI:0407”(direct interaction)	0.440
CCL24	RHPN1	psi-mi:“MI:0407”(direct interaction)	0.440
CCL24	ARHGEF12	psi-mi:“MI:0407”(direct interaction)	0.440
CCL24	MAST1	psi-mi:“MI:0407”(direct interaction)	0.440
CCL24	TIAM2	psi-mi:“MI:0407”(direct interaction)	0.440
CCL24	GRID2IP	psi-mi:“MI:0407”(direct interaction)	0.440
CCL24	SCRIB	psi-mi:“MI:0407”(direct interaction)	0.440
CCL24	APBA3	psi-mi:“MI:0407”(direct interaction)	0.440
CCL24	PDZRN4	psi-mi:“MI:0407”(direct interaction)	0.440
CCL24	APBA2	psi-mi:“MI:0407”(direct interaction)	0.440
LDB3	CCL24	psi-mi:“MI:0407”(direct interaction)	0.440
CCL24	LIN7A	psi-mi:“MI:0407”(direct interaction)	0.440
CCL24	TJP1	psi-mi:“MI:0407”(direct interaction)	0.440
CCL24	PDZK1	psi-mi:“MI:0407”(direct interaction)	0.440
CCL24	ARHGAP21	psi-mi:“MI:0407”(direct interaction)	0.440
CCL24	MAGI2	psi-mi:“MI:0407”(direct interaction)	0.440
CCL24	PATJ	psi-mi:“MI:0407”(direct interaction)	0.440
CCL24	NHERF4	psi-mi:“MI:0407”(direct interaction)	0.440
CCL24	PDZD7	psi-mi:“MI:0407”(direct interaction)	0.440
SNTG2	CCL24	psi-mi:“MI:0407”(direct interaction)	0.440
CCL24	PTPN13	psi-mi:“MI:0407”(direct interaction)	0.440

BioGRID (12): CCL24 (Reconstituted Complex), CCL24 (Reconstituted Complex), CCL5 (Reconstituted Complex), CXCL11 (Reconstituted Complex), CCL24 (Reconstituted Complex), CCL24 (Reconstituted Complex), CCL24 (Reconstituted Complex), CCL24 (Affinity Capture-RNA), CCL24 (Positive Genetic), CCL24 (Positive Genetic), CCL24 (Affinity Capture-RNA), CCL24 (Affinity Capture-MS)

ESM2 similar proteins: A0A0R4INB9, A9QWP9, B0R191, K7XWG4, O00175, O35903, O43927, O55038, O62812, O70460, P02775, P02778, P10146, P10720, P17515, P18340, P22362, P26894, P27784, P28292, P41324, P43030, P47992, P47993, P48298, P48973, P49113, P50228, P51672, P79255, P84444, P86792, P86793, P97545, P97885, Q07325, Q08782, Q2KIQ8, Q5KSV9, Q62401

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.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 81 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
Assembly and cell surface presentation of NMDA receptors	8	37.6×	3e-09
Neurexins and neuroligins	9	32.8×	1e-09
Protein-protein interactions at synapses	6	29.5×	3e-06
Chemokine receptors bind chemokines	5	17.3×	2e-04
RHOB GTPase cycle	5	14.3×	4e-04
RHOC GTPase cycle	5	13.6×	5e-04
RHOA GTPase cycle	6	8.3×	1e-03
Neuronal System	6	4.9×	1e-02

GO biological processes:

GO term	Partners	Fold	FDR
establishment or maintenance of epithelial cell apical/basal polarity	10	74.5×	3e-14
protein localization to synapse	5	49.1×	5e-06
receptor clustering	6	48.0×	4e-07
regulation of postsynaptic membrane neurotransmitter receptor levels	6	38.1×	1e-06
chemokine-mediated signaling pathway	5	20.8×	2e-04
protein-containing complex assembly	9	13.1×	3e-06
cell-cell adhesion	9	11.7×	5e-06
regulation of small GTPase mediated signal transduction	5	9.2×	5e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	1
Uncertain significance	24
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
146877	GRCh38/hg38 7q11.23(chr7:75529854-76611483)x1	Pathogenic
1807835	GRCh37/hg19 7q11.23(chr7:75085014-76007380)x1	Likely pathogenic

SpliceAI

199 predictions. Top by Δscore:

Variant	Effect	Δscore
7:75811965:C:CC	acceptor_gain	1.0000
7:75812066:T:TA	donor_gain	1.0000
7:75813304:A:AC	donor_gain	1.0000
7:75813305:C:CC	donor_gain	1.0000
7:75813305:CATCA:C	donor_gain	1.0000
7:75813641:AC:A	donor_gain	1.0000
7:75813642:CC:C	donor_gain	1.0000
7:75811960:TGAAG:T	acceptor_gain	0.9900
7:75811961:GAAG:G	acceptor_gain	0.9900
7:75811962:AAG:A	acceptor_gain	0.9900
7:75811963:AG:A	acceptor_gain	0.9900
7:75811965:C:A	acceptor_loss	0.9900
7:75811966:T:G	acceptor_loss	0.9900
7:75813305:CAT:C	donor_gain	0.9900
7:75813315:G:A	donor_gain	0.9900
7:75813424:C:CC	acceptor_gain	0.9900
7:75813637:TCTTA:T	donor_loss	0.9900
7:75813638:CTTA:C	donor_loss	0.9900
7:75813639:TTAC:T	donor_loss	0.9900
7:75813640:TACC:T	donor_loss	0.9900
7:75813641:A:AC	donor_gain	0.9900
7:75813641:ACCC:A	donor_loss	0.9900
7:75813642:C:CA	donor_loss	0.9900
7:75813642:C:CC	donor_gain	0.9900
7:75811967:G:C	acceptor_gain	0.9800
7:75813298:ATAC:A	donor_loss	0.9800
7:75813302:CTA:C	donor_loss	0.9800
7:75813304:ACAT:A	donor_gain	0.9800
7:75813305:C:CA	donor_loss	0.9800
7:75813305:CATC:C	donor_gain	0.9800

AlphaMissense

779 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:75811913:C:A	W81C	0.983
7:75811913:C:G	W81C	0.983
7:75811962:A:G	F65S	0.968
7:75811962:A:C	F65C	0.949
7:75811915:A:G	W81R	0.948
7:75811915:A:T	W81R	0.948
7:75811961:G:C	F65L	0.938
7:75811961:G:T	F65L	0.938
7:75811963:A:G	F65L	0.938
7:75813360:C:G	R46P	0.935
7:75813372:A:G	I42T	0.931
7:75811911:A:T	V82D	0.928
7:75813349:A:C	Y50D	0.912
7:75813372:A:C	I42S	0.896
7:75813357:A:T	V47E	0.887
7:75811935:C:G	C74S	0.886
7:75811936:A:T	C74S	0.886
7:75813386:A:C	F37L	0.878
7:75813386:A:T	F37L	0.878
7:75813388:A:G	F37L	0.878
7:75813309:A:T	V63E	0.860
7:75811932:C:T	G75D	0.858
7:75813396:C:G	C34S	0.852
7:75813397:A:T	C34S	0.852
7:75813349:A:T	Y50N	0.844
7:75811956:G:A	T67I	0.837
7:75811935:C:T	C74Y	0.835
7:75811912:C:G	V82L	0.832
7:75811914:C:A	W81L	0.831
7:75811936:A:G	C74R	0.821

dbSNP variants (sampled 300 via entrez): RS1000476293 (7:75817012 A>C), RS1000925298 (7:75811723 T>C), RS1001847344 (7:75813110 A>G), RS1001922285 (7:75812861 C>T), RS1002204825 (7:75823915 C>T), RS1002279793 (7:75823665 C>T), RS1002295346 (7:75812598 T>C), RS1002417643 (7:75818172 G>A), RS1002591569 (7:75815323 A>G), RS1002858983 (7:75817975 T>C,G), RS1003081583 (7:75821185 G>C), RS1003221007 (7:75825146 T>C), RS1003293019 (7:75824969 A>G), RS1003442995 (7:75819830 C>T), RS1003523573 (7:75820931 C>T)

Disease associations

OMIM: gene MIM:602495 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

16 associations (top):

Study	Trait	p-value
GCST004600_33	Eosinophil percentage of white cells	3.000000e-15
GCST004600_34	Eosinophil percentage of white cells	2.000000e-36
GCST004606_156	Eosinophil count	8.000000e-17
GCST004606_157	Eosinophil count	4.000000e-37
GCST004617_10	Eosinophil percentage of granulocytes	1.000000e-32
GCST004617_9	Eosinophil percentage of granulocytes	4.000000e-15
GCST004624_115	Sum eosinophil basophil counts	1.000000e-17
GCST004624_116	Sum eosinophil basophil counts	1.000000e-33
GCST006622_16	Neonatal cytokine/chemokine levels (fetal genetic effect)	5.000000e-08
GCST008361_9	Response to cognitive-behavioural therapy in major depressive disorder	6.000000e-06
GCST009563_1	CCL24 levels	2.000000e-36
GCST011437_1	Sarcoidosis	1.000000e-11
GCST90002381_234	Eosinophil count	9.000000e-64
GCST90002381_235	Eosinophil count	4.000000e-22
GCST90002382_244	Eosinophil percentage of white cells	3.000000e-55
GCST90002382_245	Eosinophil percentage of white cells	9.000000e-20

EFO canonical traits (8, from GWAS)

EFO ID	Trait name
EFO:0007991	eosinophil percentage of leukocytes
EFO:0004842	eosinophil count
EFO:0007996	eosinophil percentage of granulocytes
EFO:0005090	basophil count
EFO:0004747	protein measurement
EFO:0007959	fetal genotype effect measurement
EFO:0009418	CCL24 measurement
EFO:0007820	cognitive behavioural therapy

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

20 total (human), top 20 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Arsenic	affects expression, affects methylation	2
Tretinoin	affects cotreatment, increases expression	2
beta-lapachone	decreases expression	1
zinc chloride	decreases expression	1
ferrous sulfate	decreases expression	1
1-nitropyrene	decreases expression	1
lipopolysaccharide, E. coli O26-B6	increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Arsenic Trioxide	affects cotreatment, increases expression	1
Acetylcysteine	increases expression, increases secretion, decreases reaction	1
Benzo(a)pyrene	affects methylation	1
Copper	affects cotreatment, decreases expression	1
Dust	increases expression	1
Silicon Dioxide	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Zinc	increases expression	1
Cadmium Chloride	decreases reaction, increases expression, increases secretion	1
Lactic Acid	decreases expression	1
Particulate Matter	affects cotreatment, increases expression	1
Soot	decreases expression	1

Clinical trials (associated diseases)

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