CLEC6A

Summary

CLEC6A (C-type lectin domain containing 6A, HGNC:14556) is a protein-coding gene on chromosome 12p13.31, encoding C-type lectin domain family 6 member A (Q6EIG7). Calcium-dependent lectin that acts as a pattern recognition receptor (PRR) of the innate immune system: specifically recognizes and binds alpha-mannans on C.albicans hypheas.

The protein encoded by this gene is a type II membrane receptor with an extracellular C-type lectin-like domain fold. The extracellular portion binds structures with a high mannose content and has been shown to recognize several pathogens, including C. elegans, S. cerevisiae, M. tuberculosis, C. neoformans, and house dust mite. When stimulated, the encoded protein initiates signalling through the CARD9-Bcl10-Malt1 pathway, leading to the induction of cytokines. Two transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 93978 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 30 total — 1 pathogenic
• Druggable target: yes
• MANE Select transcript: NM_001007033

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14556
Approved symbol	CLEC6A
Name	C-type lectin domain containing 6A
Location	12p13.31
Locus type	gene with protein product
Status	Approved
Aliases	dectin-2, hDECTIN-2
Ensembl gene	ENSG00000205846
Ensembl biotype	protein_coding
OMIM	613579
Entrez	93978

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000382073

RefSeq mRNA: 2 — MANE Select: NM_001007033 NM_001007033, NM_001317999

CCDS: CCDS31739

Canonical transcript exons

ENST00000382073 — 6 exons

Exon	Start	End
ENSE00001490816	8477320	8478330
ENSE00001490818	8476125	8476240
ENSE00001490820	8465484	8465629
ENSE00001490821	8459597	8459698
ENSE00001490822	8457898	8457987
ENSE00001490824	8455962	8456142

Expression profiles

Bgee: expression breadth broad, 30 present calls, max score 86.15.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.4441 / max 40.3901, expressed in 120 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
123962	0.4441	120

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	86.15	gold quality
monocyte	CL:0000576	80.62	gold quality
leukocyte	CL:0000738	79.54	gold quality
vermiform appendix	UBERON:0001154	61.63	gold quality
granulocyte	CL:0000094	58.65	gold quality
blood	UBERON:0000178	57.55	gold quality
lymph node	UBERON:0000029	55.80	gold quality
bone marrow	UBERON:0002371	46.84	gold quality
bone marrow cell	CL:0002092	46.66	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	45.47	gold quality
smooth muscle tissue	UBERON:0001135	45.15	gold quality
gall bladder	UBERON:0002110	44.11	gold quality
endometrium	UBERON:0001295	43.36	gold quality
placenta	UBERON:0001987	42.38	gold quality
right lung	UBERON:0002167	40.71	silver quality
tonsil	UBERON:0002372	40.05	gold quality
lung	UBERON:0002048	38.09	gold quality
urinary bladder	UBERON:0001255	37.25	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
muscle tissue	UBERON:0002385	36.94	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
hindlimb stylopod muscle	UBERON:0004252	35.66	gold quality
right uterine tube	UBERON:0001302	35.53	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
upper lobe of left lung	UBERON:0008952	35.39	gold quality
rectum	UBERON:0001052	34.97	gold quality
skeletal muscle tissue	UBERON:0001134	34.81	gold quality
islet of Langerhans	UBERON:0000006	33.89	silver quality
duodenum	UBERON:0002114	32.80	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.78

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): HAND1, HAND2

miRNA regulators (miRDB)

62 targeting CLEC6A, 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-3646	100.00	73.56	5283
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-4776-3P	100.00	68.73	1340
HSA-MIR-3134	100.00	66.43	777
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-511-3P	99.99	68.85	1467
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-4650-5P	99.98	64.69	999
HSA-MIR-433-3P	99.98	69.37	1203
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-539-5P	99.93	70.30	2855
HSA-MIR-6508-5P	99.92	70.67	2465
HSA-MIR-1305	99.91	71.43	3443
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-6124	99.87	69.78	3551
HSA-MIR-8067	99.86	69.59	2260
HSA-MIR-5010-3P	99.83	70.60	2357
HSA-MIR-4668-5P	99.79	70.58	3782
HSA-MIR-3158-5P	99.65	67.51	1763
HSA-MIR-1252-3P	99.55	67.71	2862
HSA-MIR-4441	99.49	66.56	3216
HSA-MIR-5584-5P	99.49	68.22	2814
HSA-MIR-548G-3P	99.48	68.67	2159

Literature-anchored findings (GeneRIF, showing 16)

• human DECTIN-2 has a role in innate immunity (PMID:15810886)
• Thus, dectin-1 and dectin-2 control adaptive T(H)-17 immunity to fungi via Malt1-dependent activation of c-Rel. (PMID:21283787)
• The Dectin-2 possess a single extracellular conserved C-type lectin-like domain and are capable of mediating intracellular signalling either directly, through integral signalling domains, or indirectly, by associating with signalling adaptor molecules. (PMID:23606632)
• our data show a requirement for Dectin-2 in alveolar macrophage induction of cysteinyl leukotrienes and in the initiation of airway inflammation. (PMID:24129160)
• human plasmacytoid dendritic cells directly recognize A. fumigatus hyphae via Dectin-2 (PMID:25659141)
• This study showed a genetic association between Dectin-2 and pulmonary cryptococcosis. (PMID:26129889)
• these data indicate that mannosylated O-antigens from several Gram-negative bacteria augment TLR4 responses through interaction with Dectin-2. (PMID:27358401)
• functions in Kupffer cells to mediate the uptake and clearance of cancer cells (PMID:27872290)
• Data suggest that the specificity and geometry of dectin-2/CLEC6A carbohydrate-binding site provide molecular mechanism for binding of dectin-2 to fungal mannans and also to bacterial lipopolysaccharides, capsular polysaccharides, and lipoarabinomannans that contain mannose-alpha-1–2-mannose disaccharide unit. (CLEC6A = C-type lectin domain containing 6A) (PMID:28652405)
• The Syk-Coupled C-Type Lectin Receptors Dectin-2 and Dectin-3 Are Involved in Paracoccidioides brasiliensis Recognition by Human Plasmacytoid Dendritic Cells. (PMID:29616019)
• Dectin-1/Dectin-2-induced autocrine PGE2 signaling licenses dendritic cells to prime Th2 responses. (PMID:29668708)
• dimannoside caps and multivalent interaction are required for ligand binding to and signaling via Dectin-2. (PMID:30443026)
• Human thioredoxin, a damage-associated molecular pattern and Malassezia-crossreactive autoallergen, modulates immune responses via the C-type lectin receptors Dectin-1 and Dectin-2. (PMID:31371767)
• Deletion of haematopoietic Dectin-2 did not influence atherosclerosis development under hyperglycaemic conditions, despite some minor effects on inflammation. (PMID:31868000)
• SOCS3 Regulates Dectin-2-Induced Inflammation in PBMCs of Diabetic Patients. (PMID:36078084)
• The ligation between ERMAP, galectin-9 and dectin-2 promotes Kupffer cell phagocytosis and antitumor immunity. (PMID:37813965)

Cross-species orthologs

22 orthologs

Organism	Symbol	Gene ID
danio_rerio	asgr1c.2	ENSDARG00000046092
danio_rerio	asgrl1	ENSDARG00000046142
danio_rerio	si:dkey-61f9.1	ENSDARG00000070414
danio_rerio	asgr1a	ENSDARG00000095963
danio_rerio	si:cabz01007816.2	ENSDARG00000102537
danio_rerio	asgr1b	ENSDARG00000103480
danio_rerio	si:ch211-283g2.5	ENSDARG00000108953
danio_rerio		ENSDARG00000111755
danio_rerio		ENSDARG00000112842
mus_musculus	Clec4n	ENSMUSG00000023349
rattus_norvegicus	Clec6a-ps1	ENSRNOG00000010057
drosophila_melanogaster	tfc	FBGN0035199
drosophila_melanogaster	CG14866	FBGN0038315
drosophila_melanogaster	lectin-46Cb	FBGN0040092
drosophila_melanogaster	lectin-46Ca	FBGN0040093
drosophila_melanogaster	lectin-33A	FBGN0040096
drosophila_melanogaster	CG34033	FBGN0054033
caenorhabditis_elegans	clec-87	WBGENE00007709
caenorhabditis_elegans	clec-91	WBGENE00014117
caenorhabditis_elegans		WBGENE00016088
caenorhabditis_elegans		WBGENE00018692
caenorhabditis_elegans		WBGENE00019606

Paralogs (14): CD209 (ENSG00000090659), FCER2 (ENSG00000104921), CLEC4M (ENSG00000104938), CLEC4A (ENSG00000111729), CD207 (ENSG00000116031), CLEC10A (ENSG00000132514), ASGR1 (ENSG00000141505), CLEC4F (ENSG00000152672), ASGR2 (ENSG00000161944), CLEC4E (ENSG00000166523), CLEC4D (ENSG00000166527), CLEC4G (ENSG00000182566), CLEC17A (ENSG00000187912), CLEC4C (ENSG00000198178)

Protein

Protein identifiers

C-type lectin domain family 6 member A — Q6EIG7 (reviewed: Q6EIG7)

Alternative names: C-type lectin superfamily member 10, Dendritic cell-associated C-type lectin 2

All UniProt accessions (1): Q6EIG7

UniProt curated annotations — full annotation on UniProt →

Function. Calcium-dependent lectin that acts as a pattern recognition receptor (PRR) of the innate immune system: specifically recognizes and binds alpha-mannans on C.albicans hypheas. Binding of C.albicans alpha-mannans to this receptor complex leads to phosphorylation of the immunoreceptor tyrosine-based activation motif (ITAM) of FCER1G, triggering activation of SYK, CARD9 and NF-kappa-B, consequently driving maturation of antigen-presenting cells and shaping antigen-specific priming of T-cells toward effector T-helper 1 and T-helper 17 cell subtypes. Recognizes also, in a mannose-dependent manner, allergens from house dust mite and fungi, by promoting cysteinyl leukotriene production. Recognizes soluble elements from the eggs of Shistosoma mansoni altering adaptive immune responses.

Subunit / interactions. Associated with FCER1G. Heterodimer with CLEC4D; this heterodimer forms a pattern recognition receptor (PRR) against fungal infection.

Subcellular location. Cell membrane.

Tissue specificity. Expressed in lung, spleen, lymph node, leukocytes, bone marrow, tonsils and dendritic cells. Strongly expressed in purified monocytes and weakly in B-cells. In peripheral blood cells, preferentially expressed in plasmacytoids rather than myeloids.

Domain organisation. A short stretch of the intracellular domain (AA 8-14) proximal to the transmembrane domain is required for association with Fc receptor gamma chain.

Induction. Up-regulated by granulocyte-macrophage colony-stimulating factor (GM-CSF), TGF-beta 1, TNF and down-regulated by IL-4, IL-10 or UVB in CD14+ monocytes.

Isoforms (2)

UniProt ID	Names	Canonical?
Q6EIG7-1	1	yes
Q6EIG7-2	2

RefSeq proteins (2): NP_001007034, NP_001304928 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001304	C-type_lectin-like	Domain
IPR016186	C-type_lectin-like/link_sf	Homologous_superfamily
IPR016187	CTDL_fold	Homologous_superfamily
IPR033989	CD209-like_CTLD	Domain
IPR050111	C-type_lectin/snaclec_domain	Family

Pfam: PF00059

UniProt features (42 total): binding site 14, strand 11, disulfide bond 4, helix 3, topological domain 2, glycosylation site 2, turn 2, chain 1, transmembrane region 1, splice variant 1, domain 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
8ROV	X-RAY DIFFRACTION	2.36
5VYB	X-RAY DIFFRACTION	2.4

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6EIG7-F1	91.21	0.71

Functional residue map

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

Ligand- & substrate-binding residues (14): 170; 174; 174; 182; 190–191; 190; 191; 198; 203; 116; 118; 122 …

Disulfide bonds (4): 66–78, 79–90, 107–202, 176–194

Glycosylation sites (2): 131, 170

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-5621480	Dectin-2 family

MSigDB gene sets: 126 (showing top): REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_POSITIVE_REGULATION_OF_ADAPTIVE_IMMUNE_RESPONSE, GOBP_REGULATION_OF_ADAPTIVE_IMMUNE_RESPONSE, GOBP_CANONICAL_NF_KAPPAB_SIGNAL_TRANSDUCTION, GOCC_CELL_SURFACE, GOBP_POSITIVE_REGULATION_OF_CYTOKINE_PRODUCTION, GOBP_DETECTION_OF_OTHER_ORGANISM, GOBP_POSITIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS, GOBP_REGULATION_OF_IMMUNE_RESPONSE, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, GOBP_CYTOKINE_PRODUCTION, GOBP_REGULATION_OF_RESPONSE_TO_STRESS, GOBP_ADAPTIVE_IMMUNE_RESPONSE, GOBP_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, BROWN_MYELOID_CELL_DEVELOPMENT_UP

GO Biological Process (12): positive regulation of cytokine production (GO:0001819), response to yeast (GO:0001878), detection of yeast (GO:0001879), stimulatory C-type lectin receptor signaling pathway (GO:0002223), adaptive immune response (GO:0002250), positive regulation of canonical NF-kappaB signal transduction (GO:0043123), innate immune response (GO:0045087), defense response to fungus (GO:0050832), antifungal innate immune response (GO:0061760), positive regulation of intracellular signal transduction (GO:1902533), positive regulation of T-helper 17 type immune response (GO:2000318), immune system process (GO:0002376)

GO Molecular Function (7): calcium ion binding (GO:0005509), D-mannose binding (GO:0005537), carbohydrate binding (GO:0030246), pattern recognition receptor activity (GO:0038187), phospholipase binding (GO:0043274), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (3): plasma membrane (GO:0005886), external side of plasma membrane (GO:0009897), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
C-type lectin receptors (CLRs)	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
response to fungus	2
immune response	2
binding	2
cytokine production	1
regulation of cytokine production	1
positive regulation of gene expression	1
positive regulation of multicellular organismal process	1
response to yeast	1
detection of fungus	1
innate immune response activating cell surface receptor signaling pathway	1
cellular response to lectin	1
canonical NF-kappaB signal transduction	1
regulation of canonical NF-kappaB signal transduction	1
positive regulation of intracellular signal transduction	1
defense response to symbiont	1
defense response	1
innate immune response	1
defense response to fungus	1
positive regulation of signal transduction	1
intracellular signal transduction	1
regulation of intracellular signal transduction	1
positive regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains	1
T-helper 17 type immune response	1
regulation of T-helper 17 type immune response	1
biological_process	1
metal ion binding	1
monosaccharide binding	1
signaling receptor activity	1
enzyme binding	1
cation binding	1
membrane	1
cell periphery	1
plasma membrane	1
cell surface	1
side of membrane	1
cellular anatomical structure	1

Protein interactions and networks

STRING

968 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CLEC6A	FCER1G	P30273	994
CLEC6A	CLEC4D	Q8WXI8	950
CLEC6A	CARD9	Q9H257	922
CLEC6A	SYK	P43405	906
CLEC6A	TYROBP	O43914	711
CLEC6A	IL17A	Q16552	703
CLEC6A	BCL10	O95999	663
CLEC6A	IL17F	Q96PD4	661
CLEC6A	MALT1	Q9UDY8	651
CLEC6A	TLR2	O60603	643
CLEC6A	CD4	P01730	606
CLEC6A	TLR4	O00206	605
CLEC6A	CLEC12A	Q5QGZ9	584
CLEC6A	ICAM3	P32942	576
CLEC6A	CLEC7A	Q9BXN2	561

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: D3W0D1, D3ZWT9, D4AD02, O54709, O70215, O88713, P02707, P14371, P26717, P27811, P37217, Q07108, Q0H8B9, Q149M0, Q2HXU8, Q2NL33, Q3LUH2, Q504P2, Q63378, Q64335, Q67EQ0, Q67EQ1, Q69FH1, Q6EIG7, Q6UXN8, Q80XD9, Q8BRU4, Q8C1T8, Q8MI05, Q8MIS5, Q8VI21, Q8WTT0, Q8WXI8, Q91ZW7, Q91ZW8, Q91ZW9, Q91ZX1, Q92778, Q95MI5, Q9GME8

Diamond homologs: A4KWA1, A4KWA5, A4KWA6, A4KWA8, O89335, P02706, P08290, P0C7M8, P0C7M9, P14371, P24721, P26715, P26717, P34927, P37217, Q07108, Q07444, Q0H8B9, Q0ZCA7, Q5M9I1, Q60660, Q6EIG7, Q6QLQ4, Q6UVW9, Q6UXN8, Q80XD9, Q8BWY2, Q8C1T8, Q8HY02, Q8HY10, Q8HY11, Q8HY12, Q8IUN9, Q8MIS5, Q8N1N0, Q8VI21, Q8WTT0, Q90WJ8, Q91V08, Q92478

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
CBLB	“down-regulates quantity by destabilization”	CLEC6A	ubiquitination

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	22
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
831306	NC_000012.12:g.(?8456112)(8612767_?)del	Pathogenic

SpliceAI

780 predictions. Top by Δscore:

Variant	Effect	Δscore
12:8459595:A:AG	acceptor_gain	1.0000
12:8459596:G:GG	acceptor_gain	1.0000
12:8465468:T:G	acceptor_gain	1.0000
12:8457887:T:A	acceptor_gain	0.9900
12:8459596:GT:G	acceptor_gain	0.9900
12:8459596:GTA:G	acceptor_gain	0.9900
12:8459596:GTAA:G	acceptor_gain	0.9900
12:8459596:GTAAC:G	acceptor_gain	0.9900
12:8476169:G:A	acceptor_gain	0.9900
12:8456141:AGGT:A	donor_loss	0.9800
12:8456144:T:A	donor_loss	0.9800
12:8459693:TGCC:T	donor_gain	0.9800
12:8465467:AT:A	acceptor_gain	0.9800
12:8465471:A:AG	acceptor_gain	0.9800
12:8465472:A:G	acceptor_gain	0.9800
12:8476168:T:TA	acceptor_gain	0.9800
12:8459695:CCAG:C	donor_gain	0.9700
12:8465467:A:AG	acceptor_gain	0.9700
12:8465474:A:AG	acceptor_gain	0.9700
12:8465475:C:G	acceptor_gain	0.9700
12:8456143:G:GG	donor_gain	0.9600
12:8459694:GCCA:G	donor_gain	0.9600
12:8465450:A:AG	acceptor_gain	0.9600
12:8477317:TAGA:T	acceptor_gain	0.9600
12:8476124:GA:G	acceptor_gain	0.9500
12:8477316:TTAGA:T	acceptor_gain	0.9500
12:8456138:TACAG:T	donor_gain	0.9400
12:8456145:GAGTA:G	donor_loss	0.9400
12:8465476:A:AG	acceptor_gain	0.9400
12:8466117:T:TA	acceptor_gain	0.9400

AlphaMissense

1384 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:8477326:G:C	W164C	0.993
12:8477326:G:T	W164C	0.993
12:8476208:G:C	W151C	0.989
12:8476208:G:T	W151C	0.989
12:8465509:G:C	W83C	0.988
12:8465509:G:T	W83C	0.988
12:8476202:G:C	W149C	0.988
12:8476202:G:T	W149C	0.988
12:8477438:T:A	C202S	0.986
12:8477439:G:C	C202S	0.986
12:8465560:G:C	W100C	0.981
12:8465560:G:T	W100C	0.981
12:8477401:G:C	W189C	0.981
12:8477401:G:T	W189C	0.981
12:8477399:T:A	W189R	0.980
12:8477399:T:C	W189R	0.980
12:8465581:T:G	C107W	0.978
12:8477360:T:A	C176S	0.977
12:8477361:G:C	C176S	0.977
12:8465528:T:A	C90S	0.976
12:8465529:G:C	C90S	0.976
12:8465594:G:C	A112P	0.974
12:8477395:G:C	W187C	0.974
12:8477395:G:T	W187C	0.974
12:8465579:T:A	C107S	0.973
12:8465580:G:C	C107S	0.973
12:8476206:T:A	W151R	0.970
12:8476206:T:C	W151R	0.970
12:8465530:C:G	C90W	0.968
12:8465529:G:A	C90Y	0.967

dbSNP variants (sampled 300 via entrez): RS1000081622 (12:8464992 T>C), RS1000139074 (12:8461671 C>G), RS1000164502 (12:8468312 A>G,T), RS1000186176 (12:8466007 G>A), RS1000191899 (12:8461904 A>T), RS1000375537 (12:8468153 G>A,C), RS1000543195 (12:8456712 G>A,T), RS1000852437 (12:8468624 T>C), RS1000885679 (12:8472771 G>C), RS1001143680 (12:8455997 A>G), RS1001211792 (12:8468530 G>A,C,T), RS1001429122 (12:8475055 C>G), RS1001499138 (12:8464310 C>CTGTTTAAAATTTCTT), RS1001557658 (12:8468985 A>G), RS1001581311 (12:8462798 T>C)

Disease associations

OMIM: gene MIM:613579 | disease phenotypes: MIM:605258

GenCC curated gene-disease

Mondo (1): hyper-IgM syndrome type 2 (MONDO:0011528)

Orphanet (1): Hyper-IgM syndrome type 2 (Orphanet:101089)

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST006585_2779	Blood protein levels	6.000000e-08

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL2176856 (SINGLE PROTEIN)

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

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: other protein — C-type lectin-like receptors (CLRs)

CTD chemical–gene interactions

4 total (human), top 4 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol F	affects cotreatment, decreases methylation	1
Fulvestrant	decreases methylation, affects cotreatment	1
Paraquat	affects expression	1
Tretinoin	increases expression	1

ChEMBL screening assays

2 unique, capped per target: 2 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL2185431	Binding	Displacement of biotinylated-TM PAA from human Dectin-2 at 50 mM after 3 hrs by colorimetry	Target Selectivity of FimH Antagonists. — J Med Chem

Clinical trials (associated diseases)

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