CXCL17

Summary

CXCL17 (C-X-C motif chemokine ligand 17, HGNC:19232) is a protein-coding gene on chromosome 19q13.2, encoding C-X-C motif chemokine 17 (Q6UXB2). Chemokine that acts as a chemoattractant for monocytes, macrophages and dendritic cells, and which is involved in immune regulation and lymphocyte trafficking.

The protein encoded by this gene is a mucosal chemokine that attracts immature dendritic cells and blood monocytes to the lungs. The encoded protein also promotes tumorigenesis through an angiogenic activity. Finally, this protein exhibits strong antimicrobial activity against E. coli, S. aureus, Salmonella, P. aeruginosa, and C. albicans. Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene.

Source: NCBI Gene 284340 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 16 total
• MANE Select transcript: NM_198477

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19232
Approved symbol	CXCL17
Name	C-X-C motif chemokine ligand 17
Location	19q13.2
Locus type	gene with protein product
Status	Approved
Aliases	Dcip1, UNQ473, DMC, VCC1
Ensembl gene	ENSG00000189377
Ensembl biotype	protein_coding
OMIM	611387
Entrez	284340

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 2 protein_coding, 1 nonsense_mediated_decay

ENST00000341918, ENST00000601181, ENST00000869328

RefSeq mRNA: 1 — MANE Select: NM_198477 NM_198477

CCDS: CCDS12608

Canonical transcript exons

ENST00000601181 — 4 exons

Exon	Start	End
ENSE00001373324	42433776	42433856
ENSE00001385216	42442754	42442946
ENSE00001386733	42432976	42433077
ENSE00003172150	42428278	42428981

Expression profiles

Bgee: expression breadth ubiquitous, 167 present calls, max score 99.75.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 2.6176 / max 921.2973, expressed in 136 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
181195	1.3429	86
181194	0.5038	79
181196	0.2904	56
181197	0.2272	53
181198	0.1191	35
181193	0.0683	28
181199	0.0659	30

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
nasal cavity epithelium	UBERON:0005384	99.75	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	99.52	gold quality
bronchial epithelial cell	CL:0002328	99.34	gold quality
nasal cavity mucosa	UBERON:0001826	99.34	gold quality
palpebral conjunctiva	UBERON:0001812	99.33	gold quality
bronchus	UBERON:0002185	99.32	gold quality
trachea	UBERON:0003126	99.19	gold quality
lower esophagus mucosa	UBERON:0035834	98.35	gold quality
mucosa of paranasal sinus	UBERON:0005030	97.52	gold quality
esophagus mucosa	UBERON:0002469	97.17	gold quality
minor salivary gland	UBERON:0001830	97.13	gold quality
pylorus	UBERON:0001166	97.10	gold quality
lower lobe of lung	UBERON:0008949	96.32	gold quality
mouth mucosa	UBERON:0003729	95.87	gold quality
saliva-secreting gland	UBERON:0001044	94.21	gold quality
cardia of stomach	UBERON:0001162	94.12	gold quality
oral cavity	UBERON:0000167	93.88	gold quality
body of pancreas	UBERON:0001150	93.66	gold quality
epithelium of nasopharynx	UBERON:0001951	92.88	gold quality
upper lobe of lung	UBERON:0008948	92.08	gold quality
upper lobe of left lung	UBERON:0008952	91.75	gold quality
urethra	UBERON:0000057	91.68	gold quality
esophagus squamous epithelium	UBERON:0006920	90.89	gold quality
pancreas	UBERON:0001264	90.58	gold quality
right lung	UBERON:0002167	89.95	gold quality
islet of Langerhans	UBERON:0000006	89.86	gold quality
lung	UBERON:0002048	89.79	gold quality
amniotic fluid	UBERON:0000173	88.89	gold quality
gingiva	UBERON:0001828	88.34	gold quality
body of stomach	UBERON:0001161	87.75	gold quality

Single-cell (SCXA)

Detected in 13 experiment(s), a significant marker in 12.

Experiment	Marker?	Max mean expression
E-CURD-114	yes	2763.89
E-HCAD-15	yes	1509.25
E-MTAB-6653	yes	1391.82
E-CURD-122	yes	899.28
E-CURD-126	yes	811.26
E-GEOD-130148	yes	766.27
E-MTAB-10662	yes	742.55
E-MTAB-8221	yes	716.14
E-MTAB-5061	yes	562.78
E-HCAD-1	yes	108.94
E-ENAD-27	yes	6.50
E-GEOD-83139	no	3.09
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

24 targeting CXCL17, 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-3185	99.99	68.12	1959
HSA-MIR-33A-5P	99.99	68.62	1055
HSA-MIR-33B-5P	99.99	68.58	1062
HSA-MIR-4698	99.84	71.41	4303
HSA-MIR-4679	99.76	69.19	1229
HSA-MIR-7856-5P	99.75	69.99	2901
HSA-MIR-33A-3P	99.70	70.27	3362
HSA-MIR-6134	99.63	65.68	1537
HSA-MIR-4677-3P	99.49	67.91	1246
HSA-MIR-6505-3P	99.34	67.39	1071
HSA-MIR-6731-5P	99.28	67.42	2375
HSA-MIR-8085	99.28	67.56	2362
HSA-MIR-1253	99.12	67.08	1688
HSA-MIR-661	99.09	65.94	2062
HSA-MIR-3117-5P	99.04	67.93	618
HSA-MIR-6769B-5P	98.73	64.91	1092
HSA-MIR-6878-5P	98.49	67.91	2142
HSA-MIR-1233-5P	98.19	66.71	1201
HSA-MIR-6778-5P	98.19	66.59	1239
HSA-MIR-6788-5P	97.80	66.41	1532
HSA-MIR-30C-1-3P	97.80	66.36	1499
HSA-MIR-30C-2-3P	97.80	66.45	1499
HSA-MIR-194-3P	97.36	65.96	1027
HSA-MIR-4704-5P	96.13	68.67	608

Literature-anchored findings (GeneRIF, showing 26)

• DMC induces migration of monocytes and immature dendritic cells. Expression studies show that DMC is constitutively expressed in lung, suggesting a potential role for DMC in recruiting monocytes and dendritic cells from blood into lung parenchyma (PMID:16455961)
• VCC1 plays a role in angiogenesis and possibly in the development of tumors in some tissue types (PMID:16989774)
• These results strongly suggest that VCC-1 plays an important role in hepatocellular carcinoma cell invasion and tumor growth. (PMID:19657564)
• Immune surveillance occurs during the early intraepithelial stages of human pancreatic carcinogenesis and is mediated by expression of CXCL17 and ICAM2. (PMID:20955708)
• An Fc-fusion protein of 35kDa with a modified human immunoglobulin IgG1 Fc domain is capable of inhibiting CC chemokine-induced calcium flux, chemotaxis, and beta-arrestin recruitment in primary macrophages and transfected cells. (PMID:21586597)
• these results suggest that VCC-1 is involved in cisplatin-induced apoptosis of HepG2 cells, and also provides some evidence for VCC-1 as a potential cellular target for chemotherapy. (PMID:22425983)
• We conclude that CXCL17 is an antimicrobial mucosal chemokine that may play a role in the pathogenesis of interstitial lung diseases (PMID:22611239)
• CXCL17 production correlated with adverse immune infiltration and might be an important target for anti-HCC therapies. (PMID:25303284)
• This article shows that GPR35 is the receptor of CXCL17. (PMID:25411203)
• CXCL17 attenuates Imiquimod -induced psoriasis-like skin inflammation by recruiting myeloid-derived suppressor cells and regulatory T cells , which may be important for regulating excessive inflammation in psoriasis skin. (PMID:28389593)
• High expression of CXCL17 correlates with shorter overall survival of breast cancer patients.CXCL17 interacts with CXCR8 in breast cancer cells. (PMID:28943434)
• epithelial and sputum miR-221-3p are novel biomarkers for airway eosinophilic inflammation in asthma. Decreased epithelial miR-221-3p may protect against airway eosinophilic inflammation by upregulating anti-inflammatory chemokine CXCL17. (PMID:29644894)
• High Lymph node CXCL17 messenger RNA is associated with colon cancer. (PMID:30198422)
• Upregulation of CXCL17 expression was observed in hepatocellular carcinoma (HCC), which correlated with poorer histological stages and outcomes. Elevation of CXCL17 expression promoted proliferation, invasion, and migration and decreased autophagy the LKB1-AMPK pathway. (PMID:30597237)
• Study demonstrates that breast cancer cells secrete CXCL17, which increases the accumulation of CD11b+Gr-1+ myeloid-derived suppressor cells (MDSCs) in the lungs. CXCL17 increases MDSCs PDGF-BB secretion which contributes to MDSC-mediated angiogenesis in the lung metastatic niche and colonization of breast cancer. Patients with high levels of CXCL17 have shorter distant metastasis-free and overall survival rates. (PMID:30755260)
• Mechanism of lung adenocarcinoma spine metastasis induced by CXCL17. (PMID:31832986)
• CXCL17-mediated downregulation of type I collagen via MMP1 and miR-29 in skin fibroblasts possibly contributes to the fibrosis in systemic sclerosis. (PMID:33055012)
• MiR-325-3p mediate the CXCL17/CXCR8 axis to regulate angiogenesis in hepatocellular carcinoma. (PMID:33515898)
• The myeloid cell biomarker EMR1 is ectopically expressed in colon cancer. (PMID:34486997)
• CXCL17 Is Dispensable during Hypervirulent Mycobacterium tuberculosis HN878 Infection in Mice. (PMID:34561226)
• Expression and clinical significance of CXCL17 and GPR35 in endometrial carcinoma. (PMID:35276691)
• A comprehensive review of chemokine CXC17 (VCC1) in cancer, infection, and inflammation. (PMID:35811438)
• THUMPD3-AS1 Is Correlated with Gastric Cancer and Regulates Cell Function through miR-1252-3p and CXCL17. (PMID:36017917)
• Involvement of CXCL17 and GPR35 in Gastric Cancer Initiation and Progression. (PMID:36614059)
• CXCL17 induces activation of human mast cells via MRGPRX2. (PMID:38279626)
• Analysis of the mucosal chemokines CCL28, CXCL14, and CXCL17 in dry eye disease: An in vitro and clinical investigation. (PMID:38453037)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Cxcl17	ENSMUSG00000060188
rattus_norvegicus	Cxcl17	ENSRNOG00000037814

Protein

Protein identifiers

C-X-C motif chemokine 17 — Q6UXB2 (reviewed: Q6UXB2)

Alternative names: Dendritic cell and monocyte chemokine-like protein, VEGF coregulated chemokine 1

All UniProt accessions (2): Q6UXB2, X6R584

UniProt curated annotations — full annotation on UniProt →

Function. Chemokine that acts as a chemoattractant for monocytes, macrophages and dendritic cells, and which is involved in immune regulation and lymphocyte trafficking. Activates the C-X-C chemokine receptor GPR25. Plays a key role in lymphocyte homing by activating the receptor GPR25 on lymphocytes, mediating lymphocyte recruitment into the respiratory, upper gastrointestinal, biliary and genito-urinary tracts. Plays a role in angiogenesis and possibly in the development of tumors. Acts as an anti-inflammatory in the stomach. May play a role in the innate defense against infections. Seems to exhibit much higher chemoattractant potency on monocytes and macrophages than 6-Cys CXCL17.

Subcellular location. Secreted.

Tissue specificity. Detected in trachea, stomach, lung and skeletal muscle. Detected in intestine and in normal and asthmatic lung (at protein level). Breast tumors showed 3- to 24-fold up-regulation.

Post-translational modifications. Likely to undergo an endoproteolytic process to form a four-cysteine-containing mature peptide with a canonical CXC chemokine scaffold after secretion.

Induction. Found to be up-regulated in duodenal mucosa during acute cholera.

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

RefSeq proteins (1): NP_940879* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR029183	CXCL17	Family

Pfam: PF15211

UniProt features (14 total): mutagenesis site 6, chain 2, disulfide bond 2, signal peptide 1, region of interest 1, compositionally biased region 1, site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6UXB2-F1	59.71	0.00

Functional residue map

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

Catalytic / active sites (1): 63–64 (cleavage)

Disulfide bonds (2): 75–103, 77–110

Mutagenesis-validated functional residues (6):

Position	Phenotype
75	inhibits migration of nonactivated dendritic cells and monocytes; when associated with s-50; s-52; s-77; s-103 and s-110
77	inhibits migration of nonactivated dendritic cells and monocytes; when associated with s-50; s-52; s-75; s-103 and s-110
103	inhibits migration of nonactivated dendritic cells and monocytes; when associated with s-50; s-52; s-75; s-77 and s-110.
110	inhibits migration of nonactivated dendritic cells and monocytes; when associated with s-50; s-52; s-75; s-77 and s-103.
50	inhibits migration of nonactivated dendritic cells and monocytes; when associated with s-52; s-75; s-77; s-103 and s-110
52	inhibits migration of nonactivated dendritic cells and monocytes; when associated with s-50; s-75; s-77; s-103 and s-110

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 148 (showing top): GOBP_MYELOID_LEUKOCYTE_MIGRATION, GOBP_CELL_CHEMOTAXIS, GOBP_INFLAMMATORY_RESPONSE, GOBP_RESPONSE_TO_PEPTIDE, GOBP_POSITIVE_REGULATION_OF_MAPK_CASCADE, GOBP_POSITIVE_REGULATION_OF_CYTOKINE_PRODUCTION, GOBP_REGULATION_OF_LEUKOCYTE_MIGRATION, GOBP_LEUKOCYTE_CHEMOTAXIS, GOBP_REGULATION_OF_MONONUCLEAR_CELL_MIGRATION, GOBP_POSITIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS, GOBP_TAXIS, GOBP_LEUKOCYTE_MIGRATION, GOBP_REGULATION_OF_MACROPHAGE_CHEMOTAXIS, GOBP_POSITIVE_REGULATION_OF_LEUKOCYTE_MIGRATION, GOBP_CYTOKINE_PRODUCTION

GO Biological Process (15): angiogenesis (GO:0001525), monocyte chemotaxis (GO:0002548), positive regulation of cytosolic calcium ion concentration (GO:0007204), positive regulation of vascular endothelial growth factor production (GO:0010575), positive regulation of macrophage chemotaxis (GO:0010759), cell differentiation (GO:0030154), neutrophil chemotaxis (GO:0030593), leukocyte chemotaxis (GO:0030595), macrophage chemotaxis (GO:0048246), lymphocyte chemotaxis (GO:0048247), negative regulation of inflammatory response (GO:0050728), chemokine-mediated signaling pathway (GO:0070098), positive regulation of ERK1 and ERK2 cascade (GO:0070374), positive regulation of monocyte chemotaxis (GO:0090026), chemotaxis (GO:0006935)

GO Molecular Function (3): chemokine activity (GO:0008009), chemoattractant activity (GO:0042056), 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
leukocyte chemotaxis	3
positive regulation of leukocyte chemotaxis	2
cell chemotaxis	2
blood vessel morphogenesis	1
anatomical structure formation involved in morphogenesis	1
mononuclear cell migration	1
myeloid leukocyte migration	1
regulation of biological quality	1
positive regulation of cytokine production	1
vascular endothelial growth factor production	1
regulation of vascular endothelial growth factor production	1
regulation of macrophage chemotaxis	1
macrophage chemotaxis	1
regulation of granulocyte chemotaxis	1
positive regulation of macrophage migration	1
cellular developmental process	1
granulocyte chemotaxis	1
neutrophil migration	1
leukocyte migration	1
macrophage migration	1
lymphocyte migration	1
inflammatory response	1
negative regulation of defense response	1
negative regulation of response to external stimulus	1
regulation of inflammatory response	1
G protein-coupled receptor signaling pathway	1
cytokine-mediated signaling pathway	1
cellular response to chemokine	1
positive regulation of MAPK cascade	1
ERK1 and ERK2 cascade	1
regulation of ERK1 and ERK2 cascade	1
monocyte chemotaxis	1
positive regulation of mononuclear cell migration	1
regulation of monocyte chemotaxis	1
response to chemical	1
taxis	1
cytokine activity	1
chemokine receptor binding	1
receptor ligand activity	1
positive chemotaxis	1

Protein interactions and networks

STRING

510 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CXCL17	GPR35	Q9HC97	962
CXCL17	CCL16	O15467	786
CXCL17	CCL17	Q92583	721
CXCL17	CXCL16	Q9H2A7	720
CXCL17	CXCL1	P09341	678
CXCL17	CXCL6	P80162	673
CXCL17	CCL20	P78556	608
CXCL17	CXCL8	P10145	599
CXCL17	CCL5	P13501	596
CXCL17	CCL25	O15444	595
CXCL17	CXCR2	P25025	592
CXCL17	CCL4	P13236	589
CXCL17	CXCL14	O95715	577
CXCL17	CXCL5	P42830	501
CXCL17	CCL15	Q16663	490

IntAct

21 interactions, top by confidence:

A	B	Type	Score
CXCL17	CCL5	psi-mi:“MI:0407”(direct interaction)	0.560
CXCL17	PF4	psi-mi:“MI:0407”(direct interaction)	0.560
CXCL17	CXCL12	psi-mi:“MI:0407”(direct interaction)	0.560
CCL5	CXCL17	psi-mi:“MI:0407”(direct interaction)	0.560
PF4	CXCL17	psi-mi:“MI:0407”(direct interaction)	0.560
CXCL17	CCL17	psi-mi:“MI:0407”(direct interaction)	0.440
CXCL17	XCL2	psi-mi:“MI:0407”(direct interaction)	0.440
CCL2	CXCL17	psi-mi:“MI:0407”(direct interaction)	0.440
CCL8	CXCL17	psi-mi:“MI:0407”(direct interaction)	0.440
CCL13	CXCL17	psi-mi:“MI:0407”(direct interaction)	0.440
CCL20	CXCL17	psi-mi:“MI:0407”(direct interaction)	0.440
CCL21	CXCL17	psi-mi:“MI:0407”(direct interaction)	0.440
CCL25	CXCL17	psi-mi:“MI:0407”(direct interaction)	0.440
CCL26	CXCL17	psi-mi:“MI:0407”(direct interaction)	0.440
CCL28	CXCL17	psi-mi:“MI:0407”(direct interaction)	0.440
XCL1	CXCL17	psi-mi:“MI:0407”(direct interaction)	0.440
CXCL9	CXCL17	psi-mi:“MI:0407”(direct interaction)	0.440
CXCL10	CXCL17	psi-mi:“MI:0407”(direct interaction)	0.440
CXCL14	CXCL17	psi-mi:“MI:0407”(direct interaction)	0.440

BioGRID (16): CXCL17 (Reconstituted Complex), CXCL17 (Reconstituted Complex), CXCL17 (Reconstituted Complex), CXCL17 (Reconstituted Complex), CXCL17 (Reconstituted Complex), CXCL17 (Reconstituted Complex), CXCL17 (Reconstituted Complex), CXCL17 (Reconstituted Complex), CXCL17 (Reconstituted Complex), CXCL17 (Reconstituted Complex), CXCL17 (Reconstituted Complex), CXCL12 (Reconstituted Complex), XCL2 (Reconstituted Complex), CXCL17 (Reconstituted Complex), CXCL17 (Reconstituted Complex)

ESM2 similar proteins: A0A0A0VBX4, A0A125S9D8, A0A2I6EDN0, A0A2I6EDN8, A1X8B6, A4IFR0, C3VVN5, C3VVN6, C4PWC4, F6JWU9, F6JWV2, F6JWV3, G1C1T1, O46227, P0C1W5, P0C1W6, P0C1Y2, P0CAQ2, P0CE24, P0CE25, P0CE26, P0CE27, P0CE28, P0CE29, P0CE30, P0CE31, P0CE32, P0CE33, P0CE34, P0CE35, P0CE36, P0CY80, P0CY81, P0DQX1, P0DQX2, P0DW17, P14334, P16654, P28980, P60528

Diamond homologs: A4IFR0, Q5UW37, Q6UXB2

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 17 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	14	187.2×	1e-31
Class A/1 (Rhodopsin-like receptors)	9	47.7×	3e-13
Peptide ligand-binding receptors	9	47.7×	3e-13
GPCR ligand binding	9	41.2×	7e-13
G alpha (i) signalling events	10	27.8×	7e-13
Signaling by GPCR	9	25.8×	4e-11
GPCR downstream signalling	7	21.7×	5e-08

GO biological processes:

GO term	Partners	Fold	FDR
eosinophil chemotaxis	7	301.7×	2e-15
chemokine-mediated signaling pathway	12	228.8×	3e-25
positive regulation of T cell migration	5	215.5×	4e-10
antimicrobial humoral immune response mediated by antimicrobial peptide	12	114.4×	7e-22
chemotaxis	13	103.9×	2e-23
cell chemotaxis	9	98.0×	2e-15
neutrophil chemotaxis	5	84.0×	5e-08
cell-cell signaling	11	45.1×	2e-15

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	9
Likely benign	0
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

491 predictions. Top by Δscore:

Variant	Effect	Δscore
19:42432974:A:AC	donor_gain	0.9900
19:42432975:C:CC	donor_gain	0.9900
19:42433073:CCAAT:C	acceptor_gain	0.9800
19:42433074:CAATC:C	acceptor_gain	0.9800
19:42433854:CCC:C	acceptor_gain	0.9800
19:42433855:CCC:C	acceptor_gain	0.9800
19:42432969:AACTT:A	donor_loss	0.9700
19:42432970:ACTTA:A	donor_loss	0.9700
19:42432971:CTTAC:C	donor_loss	0.9700
19:42432972:T:TC	donor_loss	0.9700
19:42432973:T:TC	donor_loss	0.9700
19:42432974:A:AG	donor_loss	0.9700
19:42433099:T:C	acceptor_gain	0.9700
19:42433786:A:AC	donor_gain	0.9700
19:42433787:C:CC	donor_gain	0.9700
19:42433855:CC:C	acceptor_gain	0.9700
19:42433856:CC:C	acceptor_gain	0.9700
19:42442749:TTTA:T	donor_loss	0.9700
19:42442750:TTACC:T	donor_loss	0.9700
19:42442751:TA:T	donor_loss	0.9700
19:42442752:ACCT:A	donor_loss	0.9700
19:42442753:C:A	donor_loss	0.9700
19:42442829:T:A	donor_gain	0.9700
19:42433074:CAAT:C	acceptor_gain	0.9600
19:42433078:C:CC	acceptor_gain	0.9600
19:42433772:TGACC:T	donor_loss	0.9500
19:42433773:GACCT:G	donor_loss	0.9500
19:42433774:AC:A	donor_loss	0.9500
19:42433775:C:A	donor_loss	0.9500
19:42433787:CATT:C	donor_gain	0.9500

AlphaMissense

783 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:42428927:A:C	F106C	0.984
19:42428926:A:C	F106L	0.977
19:42428926:A:T	F106L	0.977
19:42428928:A:G	F106L	0.977
19:42428927:A:G	F106S	0.968
19:42428915:C:G	C110S	0.966
19:42428916:A:T	C110S	0.966
19:42428916:A:G	C110R	0.950
19:42433008:C:G	C77S	0.948
19:42433009:A:T	C77S	0.948
19:42433014:C:G	C75S	0.946
19:42433015:A:T	C75S	0.946
19:42428914:A:C	C110W	0.937
19:42433008:C:T	C77Y	0.936
19:42433015:A:G	C75R	0.929
19:42433781:C:G	C52S	0.929
19:42433782:A:T	C52S	0.929
19:42428915:C:A	C110F	0.928
19:42428915:C:T	C110Y	0.927
19:42428936:C:G	C103S	0.921
19:42428937:A:T	C103S	0.921
19:42433009:A:G	C77R	0.921
19:42428937:A:G	C103R	0.910
19:42433782:A:G	C52R	0.906
19:42433008:C:A	C77F	0.900
19:42433013:G:C	C75W	0.899
19:42428936:C:T	C103Y	0.898
19:42433787:C:G	C50S	0.893
19:42433788:A:T	C50S	0.893
19:42428935:G:C	C103W	0.888

dbSNP variants (sampled 300 via entrez): RS1000020124 (19:42428236 T>C), RS1000057023 (19:42430856 G>A,T), RS1000194157 (19:42434957 A>G,T), RS1000211965 (19:42434541 A>G,T), RS1000231020 (19:42440987 T>C), RS1000252135 (19:42441065 A>G), RS1000629541 (19:42435106 G>C), RS1000689258 (19:42439274 A>G), RS1001357589 (19:42430742 C>G,T), RS1001494445 (19:42430361 C>T), RS1001494634 (19:42428313 C>T), RS1001568080 (19:42428578 A>G), RS1001745830 (19:42441995 A>G), RS1001902791 (19:42442939 T>A,G), RS1001982598 (19:42435526 T>C,G)

Disease associations

OMIM: gene MIM:611387 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

11 total (human), top 11 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Nickel	increases expression	2
Aflatoxin B1	decreases methylation, increases methylation	2
propionaldehyde	increases expression	1
hispidulin	affects cotreatment, decreases reaction, increases expression	1
Air Pollutants	increases abundance, increases expression	1
Benzo(a)pyrene	affects methylation	1
Calcitriol	increases expression	1
Dexamethasone	affects cotreatment, decreases reaction, increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Lactic Acid	decreases expression	1
Particulate Matter	increases abundance, increases expression	1

Clinical trials (associated diseases)

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