CCL25

Summary

CCL25 (C-C motif chemokine ligand 25, HGNC:10624) is a protein-coding gene on chromosome 19p13.2, encoding C-C motif chemokine 25 (O15444). Potentially involved in T-cell development.

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 cytokine encoded by this gene displays chemotactic activity for dendritic cells, thymocytes, and activated macrophages but is inactive on peripheral blood lymphocytes and neutrophils. The product of this gene binds to chemokine receptor CCR9. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 6370 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 17 total
• MANE Select transcript: NM_005624

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10624
Approved symbol	CCL25
Name	C-C motif chemokine ligand 25
Location	19p13.2
Locus type	gene with protein product
Status	Approved
Aliases	TECK, Ckb15
Ensembl gene	ENSG00000131142
Ensembl biotype	protein_coding
OMIM	602565
Entrez	6370

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 10 protein_coding, 1 nonsense_mediated_decay

ENST00000253451, ENST00000315626, ENST00000390669, ENST00000458625, ENST00000680450, ENST00000680506, ENST00000680507, ENST00000680646, ENST00000681526, ENST00000926821, ENST00000926822

RefSeq mRNA: 7 — MANE Select: NM_005624 NM_001201359, NM_001394634, NM_001394635, NM_001394636, NM_001394637, NM_001394638, NM_005624

CCDS: CCDS12194, CCDS56080

Canonical transcript exons

ENST00000315626 — 6 exons

Exon	Start	End
ENSE00000898663	8056152	8056269
ENSE00000898664	8056366	8056499
ENSE00001531000	8053000	8053122
ENSE00003659302	8057801	8057920
ENSE00003911018	8052760	8052822
ENSE00003915180	8062218	8062650

Expression profiles

Bgee: expression breadth broad, 92 present calls, max score 99.42.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 2.9627 / max 1278.9733, expressed in 61 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
173640	2.8811	49
173639	0.0499	11
173638	0.0224	10
173641	0.0094	6

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
duodenum	UBERON:0002114	99.42	gold quality
thymus	UBERON:0002370	97.26	gold quality
small intestine	UBERON:0002108	85.98	gold quality
vastus lateralis	UBERON:0001379	85.43	gold quality
small intestine Peyer’s patch	UBERON:0003454	85.37	gold quality
quadriceps femoris	UBERON:0001377	84.34	gold quality
metanephric glomerulus	UBERON:0004736	79.93	gold quality
trachea	UBERON:0003126	78.47	gold quality
dorsal plus ventral thalamus	UBERON:0001897	77.77	gold quality
epithelium of bronchus	UBERON:0002031	77.41	gold quality
dorsal root ganglion	UBERON:0000044	77.29	gold quality
cerebellar vermis	UBERON:0004720	75.76	gold quality
layer of synovial tissue	UBERON:0007616	74.50	gold quality
Brodmann (1909) area 10	UBERON:0013541	71.85	gold quality
frontal pole	UBERON:0002795	68.73	gold quality
paraflocculus	UBERON:0005351	68.41	gold quality
middle frontal gyrus	UBERON:0002702	68.23	gold quality
endometrium epithelium	UBERON:0004811	67.13	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	65.85	gold quality
lymph node	UBERON:0000029	62.06	gold quality
vermiform appendix	UBERON:0001154	58.00	gold quality
bone marrow cell	CL:0002092	57.77	gold quality
cortical plate	UBERON:0005343	57.40	gold quality
mucosa of transverse colon	UBERON:0004991	52.55	gold quality
granulocyte	CL:0000094	51.66	gold quality
bone marrow	UBERON:0002371	49.39	gold quality
spleen	UBERON:0002106	48.28	gold quality
temporal lobe	UBERON:0001871	46.76	gold quality
amygdala	UBERON:0001876	46.61	gold quality
intestine	UBERON:0000160	45.99	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-CURD-79	yes	3320.93
E-MTAB-9906	yes	1684.97
E-GEOD-125970	yes	915.16
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CDX1, CDX2, EGR1

miRNA regulators (miRDB)

13 targeting CCL25, 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-499A-5P	99.98	70.79	1323
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-548AT-5P	99.96	70.83	2666
HSA-MIR-548AZ-5P	99.83	69.94	3230
HSA-MIR-548T-5P	99.83	69.91	3220
HSA-MIR-7110-5P	99.80	67.84	1712
HSA-MIR-942-5P	99.41	68.40	1977
HSA-MIR-519A-2-5P	98.78	71.74	1401
HSA-MIR-520B-5P	98.78	71.74	1401
HSA-MIR-4684-5P	98.29	67.99	1650
HSA-MIR-505-5P	97.01	65.54	778
HSA-MIR-764	94.16	64.85	656
HSA-MIR-4745-3P	83.50	60.58	126

Literature-anchored findings (GeneRIF, showing 29)

• CCL25 is an antimicrobial protein with bacteriocidal activity against E. coli and S. aureus. (PMID:12949249)
• demonstrate a unique pattern of regulation for CCL25 and suggest a role for caudal type homeo box proteins in regulating CCL25 transcription (PMID:16517733)
• Intracellular signaling required for CCL25-stimulated T cell adhesion mediated by the integrin alpha4beta1. (PMID:17510295)
• High expression may explain high incidence of melanoma metastis to the small intestine. (PMID:18245522)
• There was a robust migration of specific IgA- and IgM-antibody-secreting cells induced by Salmonella vaccination toward the mucosal chemokines CCL25 and CCL28 (PMID:19003934)
• over-expressed TECK interacts with CCR9 on the endometrial stromal cells in the endometriotic milieu, which may contribute to the onset and progression of endometriosis. (PMID:20081876)
• CCL25 may be involved in the differentiation of monocytes to macrophages particularly in rheumatoid arthritis (PMID:20738854)
• CCL25 enhanced the expression of MMP-1, -9, -11 and -13 active proteins by BrCa cells in a CCR9-dependent fashion. (PMID:21344163)
• We provide the first evidence that CCR9 and its natural ligand CCL25 are highly expressed by ovarian cancer tissue and their expression correlates with histological subtypes. (PMID:21637913)
• cell migration assays revealed that mesenchymal stromal cells (MSCs) have tropism toward multiple myeloma (MM) cells, and CCL25 was identified as a major MM cell-produced chemoattractant for MSCs. (PMID:22102554)
• CCL25 and CCR9 regulate colorectal cancer progression and invasion. (PMID:22863617)
• High CCL25 expression is associated with the pathogenesis of ulcerative colitis. (PMID:24936795)
• TECK derived from endometrial stromal cell and macrophages upregulates the number and function of Tregs in the ectopic milieu. (PMID:25275597)
• Expression of CCR9 and CCL25, the only natural ligand of CCR9, was significantly higher (p<0.0001) in NSCLC tissues and serum respectively, compared to their respective controls. (PMID:25296976)
• CCR9-CCL25 interaction promoted proliferation and suppressed apoptosis of non-small cell lung cancer cells by activating the PI3K/Akt pathway. (PMID:25691296)
• CCL25 mRNA and protein levels were significantly increased in the nasopharyngeal carcinoma group compared with the control group. (PMID:26279399)
• CpG methylation is reduced in gingival biopsies of patients with periodontitis (PMID:26472015)
• CCR9/CCL25 interactions are not only involved in colitis pathogenesis but also correlate with colonic inflammatory burden; further supporting the existence of overlapping mucosal lymphocyte recruitment pathways between the inflamed colon and liver. (PMID:26873648)
• Studies indicate important roles played by chemokine ligand 25 (CCL25)/chemokine receptor 9 (CCR9) in tumorigenesis, tumor chemoresistance and metastasis. (PMID:26879872)
• TECK was shown to be expressed by osteoblasts, and its receptor, CCR9, by osteoclast precursors. TECK increased P. gingivalis LPS-induced osteoclast numbers in an in vitro osteoclast formation assay using osteoclast precursors. T (PMID:26921718)
• that CCL25/CCR9 signal may provide cancer cells with chemotactic abilities through influencing several epithelial-mesenchymal transitionmarkers (PMID:27008282)
• It plays a pathogenic role in liver diseases and it will be a therapeutic target of the diseases. (PMID:27795503)
• CCL25 was able to induce proteoglycan and collagen type I production in anulus fibrosus-derived cells. (PMID:30060561)
• this study shows increased expression of CCL25 in chronic Rhinosinusitis with Nasal Polyps (PMID:31825941)
• Intratumoral delivery of CCL25 enhances immunotherapy against triple-negative breast cancer by recruiting CCR9(+) T cells. (PMID:32064335)
• Thymusexpressed chemokine secreted by breast cancer cells promotes metastasis and inhibits apoptosis. (PMID:32323823)
• The role of the CCL25-CCR9 axis in beta-cell function: potential for therapeutic intervention in type 2 diabetes. (PMID:33058852)
• CCL25 and CCR9 is a unique pathway that potentiates pannus formation by remodeling RA macrophages into mature osteoclasts. (PMID:33347617)
• LINC00853 restrains T cell acute lymphoblastic leukemia invasion and infiltration by regulating CCR9/CCL25. (PMID:34808497)

Cross-species orthologs

1 orthologs

Organism	Symbol	Gene ID
danio_rerio	cxcl32b.1	ENSDARG00000071499

Paralogs (26): CX3CL1 (ENSG00000006210), CCL26 (ENSG00000006606), CCL22 (ENSG00000102962), CCL17 (ENSG00000102970), CCL24 (ENSG00000106178), CCL7 (ENSG00000108688), CCL2 (ENSG00000108691), CCL8 (ENSG00000108700), CCL1 (ENSG00000108702), CCL20 (ENSG00000115009), 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 25 — O15444 (reviewed: O15444)

Alternative names: Chemokine TECK, Small-inducible cytokine A25, Thymus-expressed chemokine

All UniProt accessions (4): O15444, A0A7P0TBH2, C9JDZ7, F8VWI0

UniProt curated annotations — full annotation on UniProt →

Function. Potentially involved in T-cell development. Recombinant protein shows chemotactic activity on thymocytes, macrophages, THP-1 cells, and dendritics cells but is inactive on peripheral blood lymphocytes and neutrophils. Binds to CCR9. Isoform 2 is an antagonist of isoform 1. Binds to atypical chemokine receptor ACKR4 and mediates the recruitment of beta-arrestin (ARRB1/2) to ACKR4.

Subcellular location. Secreted.

Tissue specificity. Specifically expressed by thymic dendritic cells. High levels in thymus and small intestine.

Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

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

Isoforms (3)

UniProt ID	Names	Canonical?
O15444-1	1	yes
O15444-2	2, TECKvar
O15444-3	3

RefSeq proteins (7): NP_001188288, NP_001381563, NP_001381564, NP_001381565, NP_001381566, NP_001381567, NP_005615* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
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 (9 total): sequence variant 3, disulfide bond 2, splice variant 2, signal peptide 1, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O15444-F1	71.44	0.34

Functional residue map

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

Disulfide bonds (2): 30–58, 31–75

Function

Pathways and Gene Ontology

Reactome pathways

8 pathways

ID	Pathway
R-HSA-380108	Chemokine receptors bind chemokines
R-HSA-418594	G alpha (i) signalling events
R-HSA-162582	Signal Transduction
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-500792	GPCR ligand binding

MSigDB gene sets: 138 (showing top): GOBP_ANTIMICROBIAL_HUMORAL_RESPONSE, GOBP_MYELOID_LEUKOCYTE_MIGRATION, GOBP_CELL_CHEMOTAXIS, GOBP_INFLAMMATORY_RESPONSE, GOBP_RESPONSE_TO_PEPTIDE, GOBP_NEGATIVE_REGULATION_OF_CELL_CELL_ADHESION, GGGTGGRR_PAX4_03, GOBP_REGULATION_OF_LEUKOCYTE_MIGRATION, GOBP_LEUKOCYTE_CHEMOTAXIS, GOBP_POSITIVE_REGULATION_OF_CELL_ADHESION, GOBP_CELL_CELL_ADHESION, GOBP_POSITIVE_REGULATION_OF_CELL_MATRIX_ADHESION, GOBP_TAXIS, GOBP_CELLULAR_EXTRAVASATION, GOBP_LEUKOCYTE_MIGRATION

GO Biological Process (14): positive regulation of cell-matrix adhesion (GO:0001954), chemotaxis (GO:0006935), inflammatory response (GO:0006954), immune response (GO:0006955), cell surface receptor signaling pathway (GO:0007166), G protein-coupled receptor signaling pathway (GO:0007186), positive regulation of cell migration (GO:0030335), eosinophil chemotaxis (GO:0048245), cell chemotaxis (GO:0060326), antimicrobial humoral immune response mediated by antimicrobial peptide (GO:0061844), chemokine-mediated signaling pathway (GO:0070098), negative regulation of leukocyte tethering or rolling (GO:1903237), immune system process (GO:0002376), signal transduction (GO:0007165)

GO Molecular Function (7): hormone activity (GO:0005179), chemokine activity (GO:0008009), CCR10 chemokine receptor binding (GO:0031735), chemokine receptor binding (GO:0042379), CCR chemokine receptor binding (GO:0048020), 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-6 pathways:

Category	Pathways
Signaling by GPCR	2
Peptide ligand-binding receptors	1
GPCR downstream signalling	1
Signal Transduction	1
GPCR ligand binding	1
Class A/1 (Rhodopsin-like receptors)	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
signal transduction	2
cell migration	2
receptor ligand activity	2
chemokine receptor binding	2
regulation of cell-matrix adhesion	1
cell-matrix adhesion	1
positive regulation of cell-substrate adhesion	1
response to chemical	1
taxis	1
defense response	1
immune system process	1
response to stimulus	1
G protein-coupled receptor activity	1
regulation of cell migration	1
positive regulation of cell motility	1
granulocyte chemotaxis	1
eosinophil migration	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
negative regulation of cellular extravasation	1
leukocyte tethering or rolling	1
regulation of leukocyte tethering or rolling	1
negative regulation of leukocyte adhesion to vascular endothelial cell	1
biological_process	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
cytokine activity	1
cell chemotaxis	1
CCR chemokine receptor binding	1
G protein-coupled receptor binding	1
cytokine receptor binding	1
binding	1
cellular anatomical structure	1

Protein interactions and networks

STRING

852 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CCL25	CCR9	P51686	999
CCL25	ACKR2	O00590	999
CCL25	ACKR4	Q9NPB9	995
CCL25	CCR7	P32248	985
CCL25	MADCAM1	Q13477	928
CCL25	CCL19	Q99731	867
CCL25	CCL21	O00585	864
CCL25	CX3CR1	P49238	862
CCL25	CCL27	Q9Y4X3	851
CCL25	CCR5	P51681	810
CCL25	CCL17	Q92583	772
CCL25	CCR8	P51685	755
CCL25	CXCL13	O43927	752
CCL25	CCL8	P78388	747
CCL25	CCL24	O00175	742

IntAct

19 interactions, top by confidence:

A	B	Type	Score
CCL25	CCL5	psi-mi:“MI:0407”(direct interaction)	0.560
CCL25	PF4	psi-mi:“MI:0407”(direct interaction)	0.560
CCL25	CXCL12	psi-mi:“MI:0407”(direct interaction)	0.560
CCL25	CCL17	psi-mi:“MI:0407”(direct interaction)	0.560
CCL5	CCL25	psi-mi:“MI:0407”(direct interaction)	0.560
PF4	CCL25	psi-mi:“MI:0407”(direct interaction)	0.560
CXCL12	CCL25	psi-mi:“MI:0407”(direct interaction)	0.560
OPG002	CCL25	psi-mi:“MI:0407”(direct interaction)	0.440
CCL25	crmC	psi-mi:“MI:0407”(direct interaction)	0.440
PF4V1	CCL25	psi-mi:“MI:0407”(direct interaction)	0.440
CCL25	PF4V1	psi-mi:“MI:0407”(direct interaction)	0.440
CCL25	CXCL11	psi-mi:“MI:0407”(direct interaction)	0.440
CCL25	CXCL17	psi-mi:“MI:0407”(direct interaction)	0.440
CCL25	SPATA20	psi-mi:“MI:0915”(physical association)	0.400
CCL25	SNX27	psi-mi:“MI:0915”(physical association)	0.400
CCL25	OPG170	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (14): CCL25 (Reconstituted Complex), SPATA20 (Affinity Capture-MS), CCL17 (Reconstituted Complex), CXCL11 (Reconstituted Complex), CXCL17 (Reconstituted Complex), PF4 (Reconstituted Complex), PF4V1 (Reconstituted Complex), CCL25 (Reconstituted Complex), CCL25 (Reconstituted Complex), CCL25 (Reconstituted Complex), CCL25 (Reconstituted Complex), SNX27 (Affinity Capture-MS), CCL25 (Positive Genetic), EEA1 (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: A0MTF4, A4FUY1, A8MVS5, M3X9S6, O15444, O18796, O35793, O54693, O60565, O70326, O73754, O73755, P01344, P01346, P07456, P09535, P10764, P12034, P15656, P17085, P19438, P48540, P48807, P50555, P51459, Q02815, Q07731, Q14CZ8, Q20FD0, Q3TMX7, Q4PR21, Q5BJT4, Q640R3, Q68A91, Q6P6J9, Q70EL4, Q7TSQ1, Q7Z692, Q86Y78, Q8R0A6

Diamond homologs: O15444, O35903, Q4PR21, Q68A93, O15467, P51671, Q8MIT7

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
CCL25	up-regulates	CCR9	binding
CCL25	“up-regulates activity”	ACKR4	binding

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	9
Likely benign	3
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

770 predictions. Top by Δscore:

Variant	Effect	Δscore
19:8053119:CAAGG:C	donor_loss	1.0000
19:8053120:AAGG:A	donor_loss	1.0000
19:8057800:GCA:G	acceptor_gain	1.0000
19:8057921:GTAAG:G	donor_loss	1.0000
19:8053123:G:GA	donor_loss	0.9900
19:8056270:G:GG	donor_gain	0.9900
19:8056361:CACA:C	acceptor_loss	0.9900
19:8056362:ACAG:A	acceptor_loss	0.9900
19:8056363:CAGAT:C	acceptor_loss	0.9900
19:8056364:A:AG	acceptor_gain	0.9900
19:8056364:AGA:A	acceptor_loss	0.9900
19:8056365:G:GG	acceptor_gain	0.9900
19:8057795:CTCCA:C	acceptor_loss	0.9900
19:8057796:TCCA:T	acceptor_loss	0.9900
19:8057797:CCA:C	acceptor_loss	0.9900
19:8057798:CAG:C	acceptor_loss	0.9900
19:8057799:A:AG	acceptor_gain	0.9900
19:8057799:A:C	acceptor_loss	0.9900
19:8057799:AGCAG:A	acceptor_gain	0.9900
19:8057800:G:GG	acceptor_gain	0.9900
19:8057800:GCAGG:G	acceptor_gain	0.9900
19:8057801:CAGGC:C	acceptor_loss	0.9900
19:8057802:A:G	acceptor_loss	0.9900
19:8057803:G:GA	acceptor_loss	0.9900
19:8053123:G:GG	donor_gain	0.9800
19:8053124:T:G	donor_loss	0.9800
19:8056151:GGT:G	acceptor_gain	0.9800
19:8056235:G:GT	donor_gain	0.9800
19:8057800:GC:G	acceptor_gain	0.9800
19:8057802:A:AG	acceptor_gain	0.9800

AlphaMissense

967 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:8056250:T:A	C58S	0.996
19:8056251:G:C	C58S	0.996
19:8056251:G:A	C58Y	0.995
19:8056397:T:A	C75S	0.995
19:8056398:G:C	C75S	0.995
19:8056368:T:C	F65S	0.994
19:8056234:G:C	Q52H	0.992
19:8056234:G:T	Q52H	0.992
19:8056251:G:T	C58F	0.992
19:8056263:C:A	A62D	0.992
19:8056368:T:G	F65C	0.992
19:8056250:T:C	C58R	0.991
19:8056169:T:A	C31S	0.990
19:8056170:G:C	C31S	0.990
19:8056398:G:A	C75Y	0.990
19:8056169:T:C	C31R	0.989
19:8056252:C:G	C58W	0.989
19:8056397:T:C	C75R	0.989
19:8056171:C:G	C31W	0.988
19:8056257:T:C	L60P	0.988
19:8056170:G:A	C31Y	0.987
19:8056166:T:A	C30S	0.985
19:8056166:T:C	C30R	0.985
19:8056167:G:C	C30S	0.985
19:8056247:A:C	S57R	0.985
19:8056249:C:A	S57R	0.985
19:8056249:C:G	S57R	0.985
19:8056223:T:G	Y49D	0.984
19:8056255:T:A	N59K	0.984
19:8056255:T:G	N59K	0.984

dbSNP variants (sampled 300 via entrez): RS1000070003 (19:8050835 G>A), RS1000130196 (19:8062103 A>G), RS1000481240 (19:8062289 G>A,C), RS1000613529 (19:8053300 T>C), RS1000675719 (19:8052177 T>C), RS1000798615 (19:8059751 G>A,C,T), RS1000970377 (19:8057235 G>C), RS1001171717 (19:8052456 G>C), RS1001629790 (19:8053265 G>C), RS1001776518 (19:8053461 A>C), RS1001869900 (19:8058827 T>A), RS1001918507 (19:8059423 T>C), RS1001979261 (19:8058818 T>C), RS1002197853 (19:8053180 C>A,G,T), RS1002665371 (19:8054224 C>A)

Disease associations

OMIM: gene MIM:602565 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST004406_2	Neurocognitive impairment in HIV-1 infection (continuous)	4.000000e-07
GCST006585_115	Blood protein levels	1.000000e-160
GCST006585_2479	Blood protein levels	7.000000e-07
GCST009391_1477	Metabolite levels	8.000000e-06

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0007998	cognitive impairment measurement
EFO:0010464	beta-aminoisobutyric acid measurement

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
Asian ginseng	affects cotreatment, increases expression	1
2-butenal	increases expression	1
benzo(e)pyrene	increases methylation	1
Benzo(a)pyrene	affects methylation	1
Diethylhexyl Phthalate	affects cotreatment, increases expression	1
Hydrogen Peroxide	increases secretion	1
Methapyrilene	increases methylation	1
Methotrexate	decreases expression	1
Mustard Gas	increases secretion	1
Tetrachlorodibenzodioxin	increases expression	1
Triclosan	increases expression	1

Clinical trials (associated diseases)

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