KIR3DL2

Summary

KIR3DL2 (killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 2, HGNC:6339) is a protein-coding gene on chromosome 19q13.42, encoding Killer cell immunoglobulin-like receptor 3DL2 (P43630). Receptor on natural killer (NK) cells and T cells for MHC class I molecules.

Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several “framework” genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. This gene is one of the “framework” loci that is present on all haplotypes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.

Source: NCBI Gene 3812 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 97 total
• Druggable target: yes
• MANE Select transcript: NM_006737

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:6339
Approved symbol	KIR3DL2
Name	killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 2
Location	19q13.42
Locus type	gene with protein product
Status	Approved
Aliases	cl-5, nkat4, nkat4a, nkat4b, CD158K
Ensembl gene	ENSG00000240403
Ensembl biotype	protein_coding
OMIM	604947
Entrez	3812

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000270442, ENST00000326321, ENST00000908817

RefSeq mRNA: 2 — MANE Select: NM_006737 NM_001242867, NM_006737

CCDS: CCDS12906, CCDS58677

Canonical transcript exons

ENST00000326321 — 9 exons

Exon	Start	End
ENSE00002323906	54866522	54867207
ENSE00002442184	54859079	54859129
ENSE00002456232	54850443	54850509
ENSE00002477359	54851998	54852282
ENSE00002509499	54855619	54855912
ENSE00002518426	54853747	54854046
ENSE00002521337	54851220	54851255
ENSE00003592209	54866370	54866422
ENSE00003648005	54865805	54865909

Expression profiles

Bgee: expression breadth broad, 46 present calls, max score 92.17.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0455 / max 18.3011, expressed in 15 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
177555	0.0455	15

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
dorsal plus ventral thalamus	UBERON:0001897	92.17	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	91.47	gold quality
trachea	UBERON:0003126	91.13	gold quality
dorsal root ganglion	UBERON:0000044	87.66	gold quality
granulocyte	CL:0000094	81.41	gold quality
quadriceps femoris	UBERON:0001377	80.77	gold quality
paraflocculus	UBERON:0005351	80.26	gold quality
frontal pole	UBERON:0002795	79.96	gold quality
vastus lateralis	UBERON:0001379	79.61	gold quality
middle frontal gyrus	UBERON:0002702	78.99	gold quality
metanephric glomerulus	UBERON:0004736	78.52	gold quality
epithelium of bronchus	UBERON:0002031	73.84	gold quality
thymus	UBERON:0002370	73.61	gold quality
blood	UBERON:0000178	71.53	gold quality
cerebellar vermis	UBERON:0004720	71.39	gold quality
endometrium epithelium	UBERON:0004811	66.76	gold quality
layer of synovial tissue	UBERON:0007616	64.57	gold quality
Brodmann (1909) area 10	UBERON:0013541	64.01	gold quality
spleen	UBERON:0002106	61.25	gold quality
bone marrow	UBERON:0002371	57.35	gold quality
right lung	UBERON:0002167	55.67	gold quality
bone marrow cell	CL:0002092	52.84	gold quality
lymph node	UBERON:0000029	51.52	gold quality
gall bladder	UBERON:0002110	50.73	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	49.67	silver quality
upper lobe of left lung	UBERON:0008952	47.47	gold quality
lung	UBERON:0002048	46.86	gold quality
leukocyte	CL:0000738	46.28	gold quality
vermiform appendix	UBERON:0001154	44.69	gold quality
tonsil	UBERON:0002372	43.23	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	3.30

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): LRRFIP1

miRNA regulators (miRDB)

27 targeting KIR3DL2, 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-1184	99.99	68.19	1458
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-4302	99.89	67.94	1187
HSA-MIR-4766-5P	99.75	69.23	2662
HSA-MIR-4524A-3P	99.72	66.85	2406
HSA-MIR-567	99.63	68.57	1219
HSA-MIR-6513-3P	99.59	69.77	1102
HSA-MIR-3128	99.50	67.85	1258
HSA-MIR-297	99.40	69.58	1418
HSA-MIR-4478	99.07	65.16	2320
HSA-MIR-10B-3P	99.04	66.98	988
HSA-MIR-4709-3P	98.88	68.04	1594
HSA-MIR-12114	98.70	63.45	730
HSA-MIR-1301-3P	98.64	68.27	1071
HSA-MIR-5047	98.64	68.62	1035
HSA-MIR-3929	98.32	65.58	1026
HSA-MIR-7156-3P	98.25	67.66	859
HSA-MIR-4759	97.39	65.86	608
HSA-MIR-4670-3P	97.37	68.35	1378
HSA-MIR-643	97.35	67.91	805
HSA-MIR-3616-3P	96.96	65.45	983
HSA-MIR-1226-5P	96.50	65.28	643
HSA-MIR-4296	96.35	63.55	1233
HSA-MIR-4265	96.18	64.68	557
HSA-MIR-4322	96.18	64.85	539
HSA-MIR-6503-3P	93.87	66.39	348

Literature-anchored findings (GeneRIF, showing 35)

• NK clones express both 2DL4 alleles and either one or both alleles of the clonally restricted KIR 3DL1 and 3DL2 genes. (PMID:12538663)
• All genotypes seen included genes for KIR3DL2. (PMID:12559621)
• IR3DL2/p140 engagement does not result into inhibitory (nor activatory) effects on tumor-specific cytotoxic T lymphocytes. (PMID:14562047)
• A high level of KIR3DL2 allelic polymorphism has been identified. (PMID:15304002)
• Receptor is a marker for the diagnosis of Sezary syndrome. (PMID:16962036)
• Five new alleles are reported, and four previously known ones are confirmed. (PMID:17661911)
• observation that CD4 positive, CD7 negative T-cells are mostly CD158k negative suggests that CD158k may be able to help identify and enumerate neoplastic T-cells in Sezary syndrome (PMID:18061949)
• Functional analysis of KIR3DL2-single positive natural killer (NK) cells reveals a subset that is hyporesponsive in individuals harboring cognate ligands HLA-A3/A11. (PMID:18941190)
• Using shotgun mass spectrometry, we found this protein differentially expressed in the dorsolateral prefrontal cortex from patients with schizophrenia. (PMID:19165527)
• Anti-p140 autoantibodies represent a major autoantibody subset in juvenile dermatomyositis. (PMID:19479859)
• Determination of the crystallographic structure of KIR2DS4 shows two major differences from KIR2DL: displacement of contact loop L2 and altered bonding potential because of the substitutions at positions 71 and 72. (PMID:19858347)
• The A52G polymorphism in exon 3 and the frequencies of C32T in exon 9 of KIR3DL2 gene polymorphism are associated with the pathogenesis of pre-eclampsia. (PMID:19953898)
• Data show direct binding of KIR3DL2 to ODNs and we show that the D0 domain is involved primarily in this interaction. (PMID:20147700)
• Enhanced proliferation, survival, and interleukin (IL)-17 production of KIR3DL2+ CD4 T cells stimulated with antigen-presenting cells expressing HLA-B27 homodimers suggest new therapeutic strategies in ankylosing spondylitis. (PMID:21248258)
• results suggest that carriers of A allele in exon 3 of killer cell immunoglobulin-like receptor 3DL2(KIR3DL2) have a decreased susceptibility to preeclampsia (PMID:21406041)
• The frequencies of alleles of killer cell immunoglobulin-like receptor genes, KIR3DL3 and KIR3DL2, and the carrier frequency of KIR2DL4 alleles have been determined from a population of African Americans by DNA sequencing of the coding regions. (PMID:21607693)
• most frequently expressed KIR receptor in transformed mycosis fungoides (PMID:22621189)
• PLS3, Twist, KIR3DL2 and NKp46 gene expression can model efficient molecular Sezary syndrome diagnosis. (PMID:23429988)
• KIR3DL2 binds to HLA-B27 dimers and free H chains more strongly than other HLA class I and promotes the expansion of T cells in ankylosing spondylitis. (PMID:23440420)
• Our results indicate that KIR3DL2 can directly promote Sezary syndrome malignant cell death through the use of CpG ODN. (PMID:25007046)
• CD158k expression was identified on cutaneous CD4+ T cells in healthy individuals and also mycosis fungoides patients. (PMID:25044837)
• our results show that a multistep gating of CD158k+ cells is reliable to assess tumor burden in case of Sezary syndrome. (PMID:25158034)
• our results offer preclinical proof of concept for the clinical development of IPH4102, a humanized monoclonal antibody that targets the immune receptor KIR3DL2,to treat patients with nced cutaneous T-cell lymphoma (PMID:25361998)
• these data provide evidence for a possible role of KIR3DL2 in the maintenance of a high circulating malignant-cell burden by preventing activation-induced cell death. (PMID:25414436)
• These findings provide novel insights about the molecular basis of KIR3DL2 binding to B27 (PMID:25582852)
• we show that the allele KIR3DL2*001 and the single nucleotide polymorphism 1190T (rs3745902) are associated with differential susceptibility to pemphigus (PMID:25867094)
• In early axial spondyloarthritis and ankylosing spondylitis Dutch patients, no copy number changes were found for KIR3DL2. (PMID:25940819)
• KIR-3DL2 binding to HLA-B27 licenses Th17 cell differentiation in spondyloarthritis. (PMID:26841353)
• Overexpression of a single MHCI molecule, HLA-F, protects human MNs from ALS astrocyte-mediated toxicity, whereas knockdown of its receptor, the killer cell immunoglobulin-like receptor KIR3DL2, on human astrocytes results in enhanced motor neurons death (PMID:26928464)
• We show that KIR3DL2 expression is the most sensitive diagnostic criterion of Sezary syndrome when compared with all other available biological criteria. KIR3DL2 therefore represents a valuable tool for routine use as a clinical parameter at diagnosis, for prognosis and during patient follow-up (PMID:28119365)
• results identified significant KIR3DL2 expression in all cutaneous T-cell lymphomas subtypes (PMID:29089310)
• Study found that KIR3DL2 is expressed in tissue tumor-infiltrating cells in the majority of patients with adult T-cell lymphoma/leukemia. Disease-specific survival of patients with KIR3DL2 expression > 50% was statistically significantly decreased compared with patients with KIR3DL2 expression < 5% or KIR3DL2 expression between 5% and 50%. (PMID:29315492)
• [Study of the distribution of KIR3DL2 alleles among ethnic Han Chinese from Zhejiang]. (PMID:34096033)
• CD158k and PD-1 expressions define heterogeneous subtypes of Sezary syndrome. (PMID:34570200)
• Activating KIR/HLA-I combinations as a risk factor of adult B-ALL. (PMID:38262874)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
mus_musculus	Kir3dl1	ENSMUSG00000031424
mus_musculus	Kir3dl2	ENSMUSG00000057439
rattus_norvegicus	Kir3dl1	ENSRNOG00000027843

Paralogs (25): GP6 (ENSG00000088053), LILRB1 (ENSG00000104972), LILRA1 (ENSG00000104974), LILRB5 (ENSG00000105609), A1BG (ENSG00000121410), KIR2DL1 (ENSG00000125498), LILRB2 (ENSG00000131042), IGSF1 (ENSG00000147255), LAIR2 (ENSG00000167618), KIR3DL1 (ENSG00000167633), OSCAR (ENSG00000170909), FCAR (ENSG00000186431), LILRB4 (ENSG00000186818), LILRA5 (ENSG00000187116), KIR2DL4 (ENSG00000189013), VSTM1 (ENSG00000189068), NCR1 (ENSG00000189430), LILRB3 (ENSG00000204577), KIR2DS4 (ENSG00000221957), LILRA4 (ENSG00000239961), LILRA2 (ENSG00000239998), KIR3DL3 (ENSG00000242019), KIR2DL3 (ENSG00000243772), LILRA6 (ENSG00000244482), TARM1 (ENSG00000248385)

Protein

Protein identifiers

Killer cell immunoglobulin-like receptor 3DL2 — P43630 (reviewed: P43630)

Alternative names: CD158 antigen-like family member K, Natural killer-associated transcript 4, p70 natural killer cell receptor clone CL-5

All UniProt accessions (2): A0A0U1WNF3, P43630

UniProt curated annotations — full annotation on UniProt →

Function. Receptor on natural killer (NK) cells and T cells for MHC class I molecules. Upon binding of peptide-free HLA-F open conformer, negatively regulates NK and T cell effector functions. Acts as a receptor on astrocytes for HLA-F. Through interaction with HLA-F, may protect motor neurons from astrocyte-induced toxicity.

Subunit / interactions. Interacts with peptide-free HLA-F open conformer.

Subcellular location. Cell membrane.

Tissue specificity. Expressed in astrocytes.

Similarity. Belongs to the immunoglobulin superfamily.

Isoforms (2)

UniProt ID	Names	Canonical?
P43630-1	1	yes
P43630-2	2

RefSeq proteins (2): NP_001229796, NP_006728* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003599	Ig_sub	Domain
IPR013151	Immunoglobulin_dom	Domain
IPR013783	Ig-like_fold	Homologous_superfamily
IPR036179	Ig-like_dom_sf	Homologous_superfamily
IPR050412	Ig-like_Receptors_ImmuneReg	Family

Pfam: PF00047

UniProt features (24 total): sequence variant 8, glycosylation site 4, disulfide bond 3, domain 3, topological domain 2, signal peptide 1, chain 1, splice variant 1, transmembrane region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P43630-F1	75.02	0.45

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 (3): 49–95, 144–195, 244–293

Glycosylation sites (4): 273, 306, 179, 239

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-198933	Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
R-HSA-1280218	Adaptive Immune System
R-HSA-168256	Immune System

MSigDB gene sets: 38 (showing top): REACTOME_ADAPTIVE_IMMUNE_SYSTEM, GOBP_REGULATION_OF_IMMUNE_RESPONSE, KEGG_GRAFT_VERSUS_HOST_DISEASE, GNF2_IL2RB, HAHTOLA_CTCL_PATHOGENESIS, GOBP_CELLULAR_DEFENSE_RESPONSE, GOMF_SIGNALING_RECEPTOR_BINDING, KEGG_ANTIGEN_PROCESSING_AND_PRESENTATION, SHEN_SMARCA2_TARGETS_DN, MULLIGHAN_MLL_SIGNATURE_2_DN, GOMF_TRANSMEMBRANE_SIGNALING_RECEPTOR_ACTIVITY, MULLIGHAN_MLL_SIGNATURE_1_DN, HAHTOLA_SEZARY_SYNDROM_DN, GOMF_MHC_PROTEIN_BINDING, GOBP_IMMUNE_RESPONSE_REGULATING_SIGNALING_PATHWAY

GO Biological Process (2): immune response-regulating signaling pathway (GO:0002764), cellular defense response (GO:0006968)

GO Molecular Function (2): MHC class Ib protein binding (GO:0023029), protein binding (GO:0005515)

GO Cellular Component (2): plasma membrane (GO:0005886), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Adaptive Immune System	1
Immune System	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
signal transduction	1
regulation of immune response	1
defense response	1
MHC protein binding	1
binding	1
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

636 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KIR3DL2	HLA-A	P01891	996
KIR3DL2	HLA-B	P01889	989
KIR3DL2	HLA-F	P30511	943
KIR3DL2	ADGRL3	Q9HAR2	937
KIR3DL2	HLA-C	P04222	875
KIR3DL2	SORBS1	Q9BX66	790
KIR3DL2	KIR2DL1	P43626	739
KIR3DL2	TRIM45	Q9H8W5	723
KIR3DL2	STAC	Q99469	716
KIR3DL2	GGT2P	P36268	713
KIR3DL2	VPREB1	P12018	668
KIR3DL2	SPART	Q8N0X7	668
KIR3DL2	FCHSD2	O94868	661
KIR3DL2	IGLL1	P15814	639
KIR3DL2	KLRC1	P26715	597

IntAct

15 interactions, top by confidence:

A	B	Type	Score
KIR3DL2	HLA-F	psi-mi:“MI:0915”(physical association)	0.720
KIR3DL2	HLA-F	psi-mi:“MI:0407”(direct interaction)	0.720
HLA-F	KIR3DL2	psi-mi:“MI:0407”(direct interaction)	0.720
KIR3DL2	METTL15	psi-mi:“MI:0914”(association)	0.530
env	PGRMC1	psi-mi:“MI:0914”(association)	0.460
KIR3DL2	HLA-A	psi-mi:“MI:0407”(direct interaction)	0.440
KIR3DL2	HLA-B	psi-mi:“MI:0407”(direct interaction)	0.440
	CCN1	psi-mi:“MI:0914”(association)	0.350

BioGRID (40): FAM114A2 (Affinity Capture-MS), PDLIM4 (Affinity Capture-MS), FBXO38 (Affinity Capture-MS), FAM172A (Affinity Capture-MS), TMEM214 (Affinity Capture-MS), IVD (Affinity Capture-MS), GLMN (Affinity Capture-MS), ATRIP (Affinity Capture-MS), ACVR2B (Affinity Capture-MS), CISD2 (Affinity Capture-MS), SLC27A3 (Affinity Capture-MS), LRP12 (Affinity Capture-MS), METTL15 (Affinity Capture-MS), ST7L (Affinity Capture-MS), PLXNA2 (Affinity Capture-MS)

ESM2 similar proteins: A0A0G2KBC9, A1YIY0, B6A8R8, C0HJX2, C0HJX3, D3ZQX2, P08101, P0C1X9, P0DTI4, P12314, P12318, P26151, P43626, P43627, P43628, P43629, P43630, P43631, P43632, P83555, P83556, P97484, Q01965, Q13291, Q14943, Q14952, Q14953, Q14954, Q28942, Q3B8P2, Q60513, Q61450, Q63203, Q64281, Q68SN8, Q6UX27, Q7TQA1, Q7Z6M3, Q8BG84, Q8BHK6

Diamond homologs: A0A0G2KBC9, A6NI73, C0HJX2, C0HJX3, D3ZQX2, O75019, O75022, O75023, O76036, P0C191, P24071, P43626, P43629, P43630, P59901, P83556, P97484, Q14943, Q14954, Q61450, Q64281, Q6GTX8, Q6ISS4, Q6PI73, Q7TQA1, Q863H2, Q8C567, Q8IYS5, Q8MJZ2, Q8MJZ7, Q8N109, Q8N149, Q8N423, Q8N6C8, Q8N743, Q8NHJ6, Q8NHK3, Q8NHL6, Q95JB9, Q9HCN6

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	81
Likely benign	13
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

937 predictions. Top by Δscore:

Variant	Effect	Δscore
19:54850506:GTTG:G	donor_gain	1.0000
19:54850508:TGGT:T	donor_loss	1.0000
19:54850509:GGT:G	donor_loss	1.0000
19:54850510:G:A	donor_loss	1.0000
19:54852159:G:GT	donor_gain	1.0000
19:54852160:A:T	donor_gain	1.0000
19:54852199:GGACC:G	donor_gain	1.0000
19:54852200:G:T	donor_gain	1.0000
19:54865906:AAGA:A	donor_gain	1.0000
19:54865907:AGA:A	donor_gain	1.0000
19:54865908:GA:G	donor_gain	1.0000
19:54865908:GAG:G	donor_gain	1.0000
19:54865910:G:GG	donor_gain	1.0000
19:54850510:G:GG	donor_gain	0.9900
19:54850512:GAG:G	donor_loss	0.9900
19:54865800:TCCA:T	acceptor_loss	0.9900
19:54865801:CCA:C	acceptor_loss	0.9900
19:54865802:CA:C	acceptor_loss	0.9900
19:54865804:G:GA	acceptor_loss	0.9900
19:54865804:GGT:G	acceptor_gain	0.9900
19:54865905:AAAGA:A	donor_gain	0.9900
19:54865906:AAGAG:A	donor_loss	0.9900
19:54865909:AGTAA:A	donor_loss	0.9900
19:54865910:G:C	donor_loss	0.9900
19:54865911:TAAG:T	donor_loss	0.9900
19:54865912:AA:A	donor_loss	0.9900
19:54866423:GTAG:G	donor_loss	0.9900
19:54866424:T:G	donor_loss	0.9900
19:54866516:CTCCA:C	acceptor_loss	0.9900
19:54866517:TCCA:T	acceptor_loss	0.9900

AlphaMissense

2946 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:54854019:A:C	S210R	0.971
19:54854021:T:A	S210R	0.971
19:54854021:T:G	S210R	0.971
19:54852255:A:C	S110R	0.947
19:54852257:C:A	S110R	0.947
19:54852257:C:G	S110R	0.947
19:54855801:T:C	F280L	0.933
19:54855803:T:A	F280L	0.933
19:54855803:T:G	F280L	0.933
19:54853821:T:A	C144S	0.928
19:54853822:G:C	C144S	0.928
19:54852204:T:G	Y93D	0.926
19:54853848:T:C	F153L	0.926
19:54853850:C:A	F153L	0.926
19:54853850:C:G	F153L	0.926
19:54852072:T:A	C49S	0.924
19:54852073:G:C	C49S	0.924
19:54853974:T:A	C195S	0.924
19:54853975:G:C	C195S	0.924
19:54852210:T:A	C95S	0.923
19:54852211:G:C	C95S	0.923
19:54854020:G:T	S210I	0.922
19:54855885:A:C	S308R	0.921
19:54855887:T:A	S308R	0.921
19:54855887:T:G	S308R	0.921
19:54855843:T:C	F294L	0.916
19:54855845:C:A	F294L	0.916
19:54855845:C:G	F294L	0.916
19:54852099:T:C	F58L	0.911
19:54852101:C:A	F58L	0.911

dbSNP variants (sampled 300 via entrez): RS1000058870 (19:54851068 G>A,C), RS1000072506 (19:54862515 G>A), RS1000366378 (19:54851755 G>A), RS1000513175 (19:54859458 G>C), RS1001031830 (19:54866105 T>A), RS1001130887 (19:54863414 C>A,T), RS1001142856 (19:54860257 G>C,T), RS1001638929 (19:54854233 C>G), RS1001745801 (19:54863608 C>A,G,T), RS1002132030 (19:54862283 G>A,T), RS1002132315 (19:54853945 T>C), RS1002227919 (19:54784309 C>T), RS1003400362 (19:54856262 G>A,C), RS1003416657 (19:54864567 C>A,T), RS1003716520 (19:54856804 T>TG)

Disease associations

OMIM: gene MIM:604947 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST004133_69	Ulcerative colitis	1.000000e-07
GCST009496_10	Alzheimer’s disease (onset between ages 58 and 79)	8.000000e-09

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4630895 (SINGLE PROTEIN)

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

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs973541788	KIR3DL2		0.00	0

GtoPdb / IUPHAR curated pharmacology

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

Target class: other protein — CD molecules

CTD chemical–gene interactions

10 total (human), top 10 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
triphenyl phosphate	affects expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
Arsenic	affects expression	1
Benzalkonium Compounds	decreases expression	1
Benzo(a)pyrene	affects methylation	1
Lipopolysaccharides	affects response to substance, increases expression	1
Valproic Acid	increases methylation	1
Octoxynol	decreases expression	1
Antirheumatic Agents	decreases expression	1
Zinc Sulfate	decreases expression	1

Clinical trials (associated diseases)

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