CXCL13

Summary

CXCL13 (C-X-C motif chemokine ligand 13, HGNC:10639) is a protein-coding gene on chromosome 4q21.1, encoding C-X-C motif chemokine 13 (O43927). Chemotactic for B-lymphocytes but not for T-lymphocytes, monocytes and neutrophils.

B lymphocyte chemoattractant, independently cloned and named Angie, is an antimicrobial peptide and CXC chemokine strongly expressed in the follicles of the spleen, lymph nodes, and Peyer’s patches. It preferentially promotes the migration of B lymphocytes (compared to T cells and macrophages), apparently by stimulating calcium influx into, and chemotaxis of, cells expressing Burkitt’s lymphoma receptor 1 (BLR-1). It may therefore function in the homing of B lymphocytes to follicles.

Source: NCBI Gene 10563 — RefSeq curated summary.

At a glance

• GWAS associations: 6
• Clinical variants (ClinVar): 14 total
• MANE Select transcript: NM_001371558

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10639
Approved symbol	CXCL13
Name	C-X-C motif chemokine ligand 13
Location	4q21.1
Locus type	gene with protein product
Status	Approved
Aliases	BLC, BCA-1, BLR1L, ANGIE, ANGIE2
Ensembl gene	ENSG00000156234
Ensembl biotype	protein_coding
OMIM	605149
Entrez	10563

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 2 protein_coding, 1 retained_intron

ENST00000286758, ENST00000506590, ENST00000682537

RefSeq mRNA: 2 — MANE Select: NM_001371558 NM_001371558, NM_006419

CCDS: CCDS3582

Canonical transcript exons

ENST00000682537 — 4 exons

Exon	Start	End
ENSE00001025306	77610614	77610694
ENSE00001126790	77610988	77611834
ENSE00003650349	77607703	77607835
ENSE00003918175	77605820	77605929

Expression profiles

Bgee: expression breadth ubiquitous, 190 present calls, max score 98.75.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 3.5833 / max 784.3018, expressed in 180 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
48419	3.5833	180

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
spleen	UBERON:0002106	98.75	gold quality
lymph node	UBERON:0000029	98.02	gold quality
vermiform appendix	UBERON:0001154	96.84	gold quality
caecum	UBERON:0001153	94.88	gold quality
ileal mucosa	UBERON:0000331	93.41	gold quality
epithelium of nasopharynx	UBERON:0001951	90.45	gold quality
nasopharynx	UBERON:0001728	90.44	gold quality
rectum	UBERON:0001052	87.25	gold quality
periodontal ligament	UBERON:0008266	84.63	gold quality
tonsil	UBERON:0002372	84.55	gold quality
superficial temporal artery	UBERON:0001614	79.05	gold quality
decidua	UBERON:0002450	77.89	gold quality
small intestine Peyer’s patch	UBERON:0003454	77.89	gold quality
gall bladder	UBERON:0002110	76.56	gold quality
mucosa of transverse colon	UBERON:0004991	76.28	gold quality
pylorus	UBERON:0001166	75.49	gold quality
small intestine	UBERON:0002108	74.42	gold quality
cauda epididymis	UBERON:0004360	72.87	gold quality
gingiva	UBERON:0001828	71.03	gold quality
colonic mucosa	UBERON:0000317	68.97	gold quality
endometrium	UBERON:0001295	68.68	gold quality
cardia of stomach	UBERON:0001162	68.47	gold quality
cervix squamous epithelium	UBERON:0006922	66.77	gold quality
prostate gland	UBERON:0002367	66.59	gold quality
mucosa of sigmoid colon	UBERON:0004993	66.34	gold quality
hair follicle	UBERON:0002073	66.33	gold quality
gingival epithelium	UBERON:0001949	65.78	silver quality
smooth muscle tissue	UBERON:0001135	65.01	gold quality
mucosa of urinary bladder	UBERON:0001259	64.04	gold quality
olfactory bulb	UBERON:0002264	64.00	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-CURD-95	yes	5766.89
E-GEOD-139324	yes	5688.99
E-CURD-120	yes	3197.83
E-MTAB-8410	yes	18.42
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AHR, JUN, MYC, NFATC3, NFKB2, RELB

Literature-anchored findings (GeneRIF, showing 40)

• The effect of surrogate antigen on B-cell chemotaxis response to BCA-1 is biphasic: After an initial phase of suppression, chemotaxis toward BCA-1 is strongly up-regulated. (PMID:11877260)
• expression by malignant B-lymphocytes and vascular endothelium in primary central nervous system lymphoma (PMID:12393412)
• overlapping role with interleukin 7 recedptor alpha and CCR7 ligands in lymph node development (PMID:12732660)
• CXCL13 displays antimicrobial activity against E. coli and S. aureus. (PMID:12949249)
• CXCR5 and CXCL13 play an essential role in maintaining B- and T-cells in lymphocytic infiltrates and ectopic follicles in thyroid tissue from patients affected by autoimmunity. (PMID:14763921)
• most CXCL13-expressing cells in rheumatoid arthritis and ulcerative colitis are of monocyte/macrophage lineage. (PMID:15284119)
• Potenetial role of CXCL13 and its specific receptor CXCR5 in recruitment of B cells in renal allograft rejection. (PMID:15780119)
• persistent production of CXCL13 and IgG within infected tissue, two characteristics of ectopic germinal centers, are definitive features of Lyme neuroborreliosis (PMID:15929033)
• The data support expression of CXCL13 and CCL21 in regulating the progressive lymphoid organization and maintenance of periductal foci in Sjogrens syndrome. (PMID:15934082)
• Data suggest that CXCL12 and CXCL13 may directly modulate cellular proliferation and collagen type I in osteoarthritis patients. (PMID:15965952)
• elevated levels of CXCL13 could cause impaired or altered trafficking of B cells during HIV infection and could contribute to the previously reported loss of CXCR5 (PMID:16318584)
• a high CXCL13 production by epithelial cells could be responsible for germinal center formation in myasthenia gravis thymus (PMID:16543475)
• CXCL13 and CCL19 cooperatively induce significant resistance to TNF-alpha-mediated apoptosis in acute and chronic B cell leukemia CD23+CD5+ B cells, but not in the cells from cord blood. (PMID:17082584)
• CXCL13 promotes recruitment of B and T lymphocytes within the islets of Langerhans of transgenic mice. (PMID:17082648)
• prostate-associated lymphoid aggregates, frequently below the epithelia, arranged in B cell follicles expressed CXCL13, and parafollicular T cell areas showed CCL21 expression. (PMID:17474076)
• CXCL13 and CCL21 are expressed in ectopic lymphoid follicles in cutaneous lymphoproliferative disorders. (PMID:17495955)
• Angioimmunoblastic T-cell lymphoma T cells localize in the skin allowing accurate diagnosis in skin specimens using CXCL13 immunostaining on paraffin-embedded tissues. (PMID:17592274)
• CXCR5 plays a role in Chronic lymphocytic leukemia (CLL) cell positioning and cognate interactions between CLL and CXCL13-secreting CD68+ accessory cells in lymphoid tissues. (PMID:17652619)
• CCL19 plus CXCL13 regulate interaction between B-ALL CD23+CD5+ B cells and CD8+ T cells by inducing activation of PEG10, in turn, resulting in IL-10 overexpression and impairment of tumor-specific cytotoxicity in syngeneic CD8+ T cells. (PMID:17709502)
• knee synovial fluid levels of CXCL 13 were higher in Rheumatoid arthritis and Behcets disease patients compared to Osteoarthritis patients (PMID:17949547)
• These findings indicate a previously unreported role for the BAFF/BAFF-R pair in mature B-cell chemotaxis. (PMID:18172003)
• AITL is a morphologically heterogeneous T-cell lymphoma commonly expressing CXCL13 and CD10; high level of CD10 and CXCL13 did not affect survival. (PMID:18292286)
• in salivary gland MALT lymphoma the lymphoid chemokines CXCL13 and CCL21 are directly implicated in the organization of ectopic reactive lymphoid tissue (PMID:18354239)
• Expression of CXCL13 was found in cells of a dendritic-like morphology. (PMID:18528326)
• up-regulation of CXCL13 gene expression is a feature of HCV-infected patients. Higher levels of this chemokine in liver as well as skin of patients with active mixed cryoglobulinemia vasculitis suggest a possible interrelation. (PMID:18550853)
• report an effective method to establish human allo-reactive Th17 cell clones and demonstrate that human Th17, but not Th1 or Th2, cells express B cell chemoattractant CXCL13, by using DNA chips (PMID:18566383)
• CCL23, M-CSF, TNFRSF9, TNF-alpha, and CXCL13 are predictive of rheumatoid arthritis disease activity and may be useful in the definition of disease subphenotypes and in the measurement of response to therapy in clinical studies. (PMID:18668547)
• experiments performed to investigate the survival, adhesion, and metalloproteases secretion indicate that CXCL13 combined with CCL19 and CCL21 mainly affects the chemotaxis of Sezary syndrome cells (PMID:18757429)
• Survival after UVA irradiation was greater in human keratinocytes compared to mouse skin with no S100A2 expression, showing a protective role for S100A2. A S100A2-dependent difference was observed in the induction of Cxcl13 transcripts in transgenic mice. (PMID:18773213)
• Altered expression of the chemokine receptor-ligand pair, CXCR5/CXCL13, may participate in the establishment of B-cell dysfunctions during HIV-1 infection. (PMID:18780835)
• CXCL13 is overexpressed in the tumour tissue and in the peripheral blood of breast cancer patients (PMID:18781150)
• study demonstrates that CXCL13 is produced by dysplastic and neoplastic follicular dendritic cells and can be instrumental in recruiting intratumoural CXCR5+ lymphocytes (PMID:18792075)
• CXCL13 dramatically increased in intra-amniotic infection/inflammation but did not change with spontaneous parturition. (PMID:19031272)
• The similar pattern of expression of CXCL13 and PD-1 in angioimmunoblastic T-cell lymphoma provides further evidence that AITL is a neoplasm derived from germinal-center T-helper cells. (PMID:19095563)
• the CXCL13-CXCR5 axis is significantly associated with prostate cancer progression (PMID:19375853)
• Expressions of CXCL13, CD10 and bcl-6 were significantly higher in angioimmunoblastic T-cell lymphoma patients than in peripheral T-cell lymphoma patients. (PMID:19575892)
• NFATc3 is a downstream target of the CXCL13/CXCR5 axis to stimulate RANKL expression in oral squamous cell carcinomas cells. (PMID:19671684)
• Production of CXCL13 within the CNS of CNS lymphoma patients, which decreases with response to therapy; CXCL13 may represent a marker for further diagnostic and prognostic studies. (PMID:19773382)
• elevated production is correlated with systemic lupus erythematosus disease activity (PMID:19774453)
• We conclude that the serum levels of the B cell chemokine CXCL13 are associated with active multiple sclerosis (PMID:19805441)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Cxcl13	ENSMUSG00000023078
rattus_norvegicus	Cxcl13	ENSRNOG00000024899

Paralogs (12): CXCL2 (ENSG00000081041), PF4V1 (ENSG00000109272), CXCL6 (ENSG00000124875), CXCL9 (ENSG00000138755), CXCL3 (ENSG00000163734), CXCL5 (ENSG00000163735), PPBP (ENSG00000163736), PF4 (ENSG00000163737), CXCL1 (ENSG00000163739), CXCL10 (ENSG00000169245), CXCL11 (ENSG00000169248), CXCL8 (ENSG00000169429)

Protein

Protein identifiers

C-X-C motif chemokine 13 — O43927 (reviewed: O43927)

Alternative names: Angie, B cell-attracting chemokine 1, B lymphocyte chemoattractant, CXC chemokine BLC, Small-inducible cytokine B13

All UniProt accessions (2): O43927, Q53X90

UniProt curated annotations — full annotation on UniProt →

Function. Chemotactic for B-lymphocytes but not for T-lymphocytes, monocytes and neutrophils. Does not induce calcium release in B-lymphocytes. Binds to BLR1/CXCR5.

Subcellular location. Secreted.

Tissue specificity. Highest levels in liver, followed by spleen, lymph node, appendix and stomach. Low levels in salivary gland, mammary gland and fetal spleen.

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

RefSeq proteins (2): NP_001358487, NP_006410 (=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 (14 total): strand 7, helix 2, disulfide bond 2, signal peptide 1, chain 1, turn 1

Structure

Experimental structures (PDB)

4 structures.

PDB	Method	Resolution (Å)
7JNY	X-RAY DIFFRACTION	1.88
5CBE	X-RAY DIFFRACTION	2.4
5CBA	X-RAY DIFFRACTION	2.5
6VGJ	X-RAY DIFFRACTION	2.52

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O43927-F1	84.27	0.52

Antibody-complex structures (SAbDab): 2 — 5CBA, 5CBE

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): 33–60, 35–76

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: 327 (showing top): MODULE_92, GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS, GOBP_ANTIMICROBIAL_HUMORAL_RESPONSE, MCLACHLAN_DENTAL_CARIES_UP, GOBP_REGULATION_OF_T_CELL_CHEMOTAXIS, 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, GOBP_POSITIVE_REGULATION_OF_LYMPHOCYTE_MIGRATION, GOBP_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, SOUCEK_MYC_TARGETS

GO Biological Process (26): germinal center formation (GO:0002467), lymphocyte chemotaxis across high endothelial venule (GO:0002518), chronic inflammatory response (GO:0002544), regulation of humoral immune response (GO:0002920), inflammatory response (GO:0006954), immune response (GO:0006955), cell surface receptor signaling pathway (GO:0007166), positive regulation of cytosolic calcium ion concentration (GO:0007204), cell-cell signaling (GO:0007267), positive regulation of T cell chemotaxis (GO:0010820), neutrophil chemotaxis (GO:0030593), regulation of Rap protein signal transduction (GO:0032487), positive regulation of integrin activation (GO:0033625), positive regulation of cell-cell adhesion mediated by integrin (GO:0033634), B cell chemotaxis (GO:0035754), endothelial cell chemotaxis to fibroblast growth factor (GO:0035768), defense response to bacterium (GO:0042742), regulation of angiogenesis (GO:0045765), antimicrobial humoral immune response mediated by antimicrobial peptide (GO:0061844), chemokine-mediated signaling pathway (GO:0070098), cellular response to lipopolysaccharide (GO:0071222), negative regulation of endothelial cell chemotaxis to fibroblast growth factor (GO:2000545), chemotaxis (GO:0006935), defense response (GO:0006952), signal transduction (GO:0007165), cell chemotaxis (GO:0060326)

GO Molecular Function (9): chemokine activity (GO:0008009), heparin binding (GO:0008201), fibroblast growth factor binding (GO:0017134), CXCR5 chemokine receptor binding (GO:0031724), CCR10 chemokine receptor binding (GO:0031735), CXCR chemokine receptor binding (GO:0045236), receptor ligand activity (GO:0048018), CXCR3 chemokine receptor binding (GO:0048248), cytokine activity (GO:0005125)

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

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
lymphocyte chemotaxis	2
defense response	2
signal transduction	2
chemokine receptor binding	2
CXCR chemokine receptor binding	2
adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains	1
anatomical structure formation involved in morphogenesis	1
inflammatory response	1
humoral immune response	1
regulation of immune response	1
immune system process	1
response to stimulus	1
regulation of biological quality	1
cell communication	1
signaling	1
T cell chemotaxis	1
regulation of T cell chemotaxis	1
positive regulation of lymphocyte chemotaxis	1
positive regulation of T cell migration	1
granulocyte chemotaxis	1
neutrophil migration	1
Rap protein signal transduction	1
regulation of small GTPase mediated signal transduction	1
positive regulation of protein-containing complex assembly	1
integrin activation	1
regulation of integrin activation	1
positive regulation of cell-cell adhesion	1
positive regulation of cell adhesion mediated by integrin	1
cell-cell adhesion mediated by integrin	1
regulation of cell-cell adhesion mediated by integrin	1
cell chemotaxis to fibroblast growth factor	1
endothelial cell chemotaxis	1
response to bacterium	1
angiogenesis	1
regulation of anatomical structure morphogenesis	1
regulation of vasculature development	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

2200 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CXCL13	CXCR5	P32302	999
CXCL13	CCR7	P32248	997
CXCL13	CXCR4	P30991	996
CXCL13	CCL19	Q99731	994
CXCL13	CXCR2	P25025	992
CXCL13	ACKR4	Q9NPB9	990
CXCL13	CCL21	O00585	980
CXCL13	CXCR3	P49682	966
CXCL13	CXCR1	P25024	965
CXCL13	CXCL10	P02778	940
CXCL13	CXCL9	Q07325	938
CXCL13	CXCL12	P48061	925
CXCL13	CCL5	P13501	906
CXCL13	CCRL2	O00421	881
CXCL13	CCR6	P51684	880

IntAct

11 interactions, top by confidence:

A	B	Type	Score
crmD	CXCL13	psi-mi:“MI:0407”(direct interaction)	0.440
OPG002	CXCL13	psi-mi:“MI:0407”(direct interaction)	0.440
CCL4L1	CXCL13	psi-mi:“MI:0407”(direct interaction)	0.440
CCL28	CXCL13	psi-mi:“MI:0407”(direct interaction)	0.440
PF4V1	CXCL13	psi-mi:“MI:0407”(direct interaction)	0.440
CCL2	CXCL13	psi-mi:“MI:0407”(direct interaction)	0.440
CXCL13	E4	psi-mi:“MI:0915”(physical association)	0.370
FLT4	ESYT2	psi-mi:“MI:2364”(proximity)	0.270
CXCL13	ftsK	psi-mi:“MI:0915”(physical association)	0.000
CXCL13	EEF1G	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (9): CXCL13 (Reconstituted Complex), EEF1G (Two-hybrid), CXCL13 (Reconstituted Complex), CXCL13 (Reconstituted Complex), CXCL13 (Reconstituted Complex), CXCL13 (Reconstituted Complex), CXCL13 (Proximity Label-MS), CDKN1A (Affinity Capture-Western), CXCL13 (Affinity Capture-Western)

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: O43927, O55038, P02778, P12850, P14095, P19874, P22952, P26894, P36925, P46653, P48973, P50228, P67813, P67814, P79255, P80221, Q102R3, Q10746, Q77MQ6, Q9TTS6, Q9WVL7, Q9XSX5, A9QWQ1, O46675, P10148, P10889, P30348, P51671, P52203, P80162, Q68Y88, Q8MIT7, Q9JHH5, A9QWP9, O55235, O62657, O62812, P02775, P08317, P09340

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	8
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1455 predictions. Top by Δscore:

Variant	Effect	Δscore
4:77607701:A:AG	acceptor_gain	1.0000
4:77607702:G:GG	acceptor_gain	1.0000
4:77607702:GGT:G	acceptor_gain	1.0000
4:77607831:ATCAT:A	donor_gain	1.0000
4:77607832:TCAT:T	donor_gain	1.0000
4:77607833:CAT:C	donor_gain	1.0000
4:77607833:CATG:C	donor_loss	1.0000
4:77607834:AT:A	donor_gain	1.0000
4:77607835:TGT:T	donor_loss	1.0000
4:77607836:G:C	donor_loss	1.0000
4:77607836:G:GG	donor_gain	1.0000
4:77607837:TAAGT:T	donor_loss	1.0000
4:77610611:CA:C	acceptor_loss	1.0000
4:77610612:A:AG	acceptor_gain	1.0000
4:77610613:G:GC	acceptor_loss	1.0000
4:77610613:G:GG	acceptor_gain	1.0000
4:77610613:GA:G	acceptor_gain	1.0000
4:77610681:G:GT	donor_gain	1.0000
4:77610681:G:T	donor_gain	1.0000
4:77610691:GAAA:G	donor_gain	1.0000
4:77610692:AAAGT:A	donor_loss	1.0000
4:77610693:AA:A	donor_gain	1.0000
4:77610694:AG:A	donor_loss	1.0000
4:77610695:G:GG	donor_gain	1.0000
4:77610695:GT:G	donor_loss	1.0000
4:77610696:TAA:T	donor_loss	1.0000
4:77610986:A:AG	acceptor_gain	1.0000
4:77610987:G:GG	acceptor_gain	1.0000
4:77607697:TTACA:T	acceptor_loss	0.9900
4:77607700:CAGGT:C	acceptor_loss	0.9900

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000016046 (4:77553975 A>C), RS1000056936 (4:77563367 T>C), RS1000065124 (4:77521235 T>C), RS1000066223 (4:77518261 C>G,T), RS1000115685 (4:77607250 T>A), RS1000116755 (4:77518104 A>G), RS1000138291 (4:77606552 A>C), RS1000139458 (4:77567137 T>C), RS1000150101 (4:77583874 CTT>C), RS1000189905 (4:77567333 G>A,T), RS1000218046 (4:77604207 A>G), RS1000259257 (4:77565773 A>G), RS1000309389 (4:77535939 A>G), RS1000351864 (4:77557776 G>C), RS1000352513 (4:77562559 A>C)

Disease associations

OMIM: gene MIM:605149 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST001776_18	Cardiac Troponin-T levels	5.000000e-06
GCST003995_21	Tonsillectomy	5.000000e-10
GCST005014_135	Tonsillectomy	5.000000e-10
GCST007637_37	Diffusing capacity of carbon monoxide	6.000000e-06
GCST008161_85	Waist circumference adjusted for body mass index	2.000000e-06
GCST011389_1	Rheumatoid arthritis	2.000000e-09

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0005043	cardiac troponin T measurement
EFO:0007924	tonsillectomy risk measurement
EFO:0009369	diffusing capacity of the lung for carbon monoxide
EFO:0007789	BMI-adjusted waist circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Tetrachlorodibenzodioxin	decreases expression, increases activity, increases expression, affects expression, affects binding (+1 more)	4
sodium arsenite	affects methylation, decreases expression, increases expression	3
Acetaminophen	increases expression, affects cotreatment, decreases expression	3
Benzo(a)pyrene	decreases expression, increases methylation	2
Tobacco Smoke Pollution	decreases expression	2
Particulate Matter	decreases expression, decreases reaction, increases expression	2
2-(2-(4-heptylphenyl)ethyl)-6-hydroxy-benzoic acid	decreases expression	1
methylmercuric chloride	increases expression	1
methyleugenol	decreases expression	1
6-hydroxy-5-((p- sulfophenyl)azo)-2-naphthalenesulfonic acid disodium salt	affects cotreatment, decreases expression	1
tributyltin	affects cotreatment, decreases secretion	1
diisononyl phthalate	affects cotreatment, decreases expression	1
zinc chloride	decreases expression	1
lead nitrate	affects cotreatment, decreases expression	1
ferrous sulfate	decreases expression	1
nickel chloride	decreases reaction, increases expression	1
butylbenzyl phthalate	affects cotreatment, decreases expression	1
1-nitropyrene	decreases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
di-n-butyltin	affects cotreatment, decreases secretion	1
CGP 52608	increases reaction, affects binding	1
lipopolysaccharide, E. coli O26-B6	increases expression, decreases reaction	1
tofacitinib	decreases expression	1
2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide	decreases reaction, increases expression	1
incobotulinumtoxinA	decreases expression	1
(+)-JQ1 compound	decreases expression	1
Vehicle Emissions	decreases reaction, increases expression	1
Carbamazepine	affects expression	1
Chenodeoxycholic Acid	affects cotreatment, decreases expression	1
DEET	increases expression	1

Cellosaurus cell lines

3 cell lines: 3 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B8EB	Abcam HCT 116 CXCL13 KO	Cancer cell line	Male
CVCL_B9GJ	Abcam A-549 CXCL13 KO	Cancer cell line	Male
CVCL_D2EQ	Abcam MCF-7 CXCL13 KO	Cancer cell line	Female

Clinical trials (associated diseases)

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