NCR3LG1

Summary

NCR3LG1 (natural killer cell cytotoxicity receptor 3 ligand 1, HGNC:42400) is a protein-coding gene on chromosome 11p15.1, encoding Natural cytotoxicity triggering receptor 3 ligand 1 (Q68D85). Triggers NCR3-dependent natural killer cell activation.

B7H6 belongs to the B7 family (see MIM 605402) and is selectively expressed on tumor cells. Interaction of B7H6 with NKp30 (NCR3; MIM 611550) results in natural killer (NK) cell activation and cytotoxicity (Brandt et al., 2009 [PubMed 19528259]).

Source: NCBI Gene 374383 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 48 total
• MANE Select transcript: NM_001202439

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:42400
Approved symbol	NCR3LG1
Name	natural killer cell cytotoxicity receptor 3 ligand 1
Location	11p15.1
Locus type	gene with protein product
Status	Approved
Aliases	DKFZp686O24166, B7-H6
Ensembl gene	ENSG00000188211
Ensembl biotype	protein_coding
OMIM	613714
Entrez	374383

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 1 protein_coding, 1 nonsense_mediated_decay

ENST00000338965, ENST00000530403

RefSeq mRNA: 1 — MANE Select: NM_001202439 NM_001202439

CCDS: CCDS55748

Canonical transcript exons

ENST00000338965 — 5 exons

Exon	Start	End
ENSE00001365117	17356651	17357001
ENSE00001366577	17351800	17352039
ENSE00001366772	17368867	17368964
ENSE00001368174	17367009	17367347
ENSE00001368179	17372006	17377341

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 82.61.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 2.9191 / max 41.3167, expressed in 1092 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
113275	1.9385	814
113274	0.9807	587

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cerebellar vermis	UBERON:0004720	82.61	gold quality
quadriceps femoris	UBERON:0001377	78.00	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	76.95	gold quality
right hemisphere of cerebellum	UBERON:0014890	74.39	gold quality
rectum	UBERON:0001052	74.34	gold quality
cerebellum	UBERON:0002037	74.23	gold quality
cerebellar cortex	UBERON:0002129	74.19	gold quality
islet of Langerhans	UBERON:0000006	74.15	gold quality
cerebellar hemisphere	UBERON:0002245	74.07	gold quality
duodenum	UBERON:0002114	73.95	gold quality
superior frontal gyrus	UBERON:0002661	73.26	gold quality
cortical plate	UBERON:0005343	72.93	gold quality
adrenal tissue	UBERON:0018303	72.34	gold quality
stromal cell of endometrium	CL:0002255	71.82	gold quality
primary visual cortex	UBERON:0002436	70.60	gold quality
colonic epithelium	UBERON:0000397	70.47	gold quality
right uterine tube	UBERON:0001302	69.83	gold quality
prefrontal cortex	UBERON:0000451	69.63	gold quality
frontal cortex	UBERON:0001870	68.03	gold quality
ventricular zone	UBERON:0003053	67.97	gold quality
calcaneal tendon	UBERON:0003701	66.52	gold quality
right frontal lobe	UBERON:0002810	64.88	gold quality
transverse colon	UBERON:0001157	64.81	gold quality
smooth muscle tissue	UBERON:0001135	64.39	gold quality
cerebral cortex	UBERON:0000956	63.98	gold quality
endometrium	UBERON:0001295	63.61	gold quality
corpus callosum	UBERON:0002336	63.47	gold quality
vermiform appendix	UBERON:0001154	63.40	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	63.39	gold quality
ganglionic eminence	UBERON:0004023	63.09	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.79

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

150 targeting NCR3LG1, 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-4713-3P	100.00	65.92	505
HSA-MIR-3064-3P	100.00	70.09	1254
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-4455	100.00	65.48	1587
HSA-MIR-4481	100.00	66.42	1669
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-2110	99.96	66.68	1930
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-185-3P	99.95	67.01	1743
HSA-MIR-374A-5P	99.90	71.34	2923
HSA-MIR-374B-5P	99.90	69.98	2734
HSA-MIR-6783-3P	99.89	67.92	2059
HSA-MIR-1343-3P	99.89	66.78	1815
HSA-MIR-9902	99.89	69.15	2250
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-6857-5P	99.87	65.32	985
HSA-MIR-3919	99.87	69.45	2489
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-202-3P	99.84	71.41	1290
HSA-MIR-765	99.84	68.24	2442
HSA-MIR-1321	99.84	65.30	1811
HSA-MIR-4756-5P	99.84	64.98	1809
HSA-MIR-4739	99.84	65.25	1832
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-4639-5P	99.81	67.37	1028
HSA-MIR-204-5P	99.79	71.62	2439

Literature-anchored findings (GeneRIF, showing 33)

• DKFZp686O24166 was designated the gene B7-H6; identification as a tumor cell surface molecule that binds NKp30, a receptor which triggers antitumor NK cell cytotoxicity and cytokine secretion (PMID:19528259)
• The NKp30-B7-H6 structure revealed that this NK cell activating complex is distinct from the CTLA4-B7 and PD-1-PD-L T cell inhibitory complexes in both overall organization and detailed atomic interactions that mediate binding and specificity. (PMID:21422170)
• B7-H6:7D8 represents the first Ab-based molecule stimulating NKp30-mediated NK cell cytotoxicity for therapeutic purposes (PMID:23066150)
• These findings reveal that B7-H6 is not only implicated in tumor immunosurveillance but also participates in the inflammatory response in infectious conditions. (PMID:23687088)
• B7-H6-positive carcinomas were significantly associated with a higher differentiation. (PMID:24242703)
• Data indicate that the ectodomain of NKp30 forms functional homo-oligomers that mediate high affinity binding to its corresponding cellular ligand B7-H6. (PMID:24275655)
• this study identified ectodomain shedding of B7-H6 by the metalloproteases “a disintegrin and metalloproteases” (ADAM)-10 and ADAM-17 from the cell surface of tumor cells as a crucial mechanism of expression regulation of B7-H6. (PMID:24780758)
• Allogeneic and xenogeneic anti-tumor effect of callithrix jacchus natural killer cells is dependent on NKp30 and B7-H6 interaction. (PMID:25001651)
• Study suggests that B7-H6 has a limited value as a prognostic marker in non-small cell lung cancer patients. (PMID:25400778)
• the interaction between NKp30 and B7-H6 may contribute to the fate of neuroblastoma patients (PMID:25877893)
• Our results suggest that NKP30-B7-H6 interaction can aggravate hepatocyte damage, probably through up-regulation of IL-32 expression in hepatitis B virus-related acute-on-chronic liver failure (PMID:26241657)
• our present data revealed that higher B7-H6 expression in ovarian cancer tissues was positively correlated with tumor metastasis and cancer progression (PMID:26464699)
• study not only reveals the possibility that tumor therapeutics work as stress inducers to enhance tumor sensitivity to NK cell cytolysis but also suggests that B7-H6 could be a potential target for tumor therapy in the future (PMID:26472927)
• NKp30-B7-H6 interaction is a novel cell contact mechanism that mediates activation of Group 2 innate lymphoid cells and identifies a potential target for the development of novel therapeutics for atopic dermatitis and other atopic diseases. (PMID:26582946)
• Study confirms that B7-H6 is widely expressed in B-cell lymphomas and demonstrates its important role in the pathogenesis and chemosensitivity of lymphoma. (PMID:26891663)
• B7H6-derived peptides trigger TNF-alpha-dependent immunostimulatory activity of lymphocytic NK92-MI cells. (PMID:27216712)
• Data suggest that B7-H6 play an important role in the regulation of the biological behavior of glioma cells. (PMID:28415577)
• Data indicate a sequence of events driven by tumour-derived prostaglandin D2 (PGD2) associated with engagement of the natural cytotoxicity triggering receptor 3 (NKp30)-B7H6 antigen (B7H6) pathway leading to significant group 2 innate lymphoid cells (ILC2s) activation and expansion. (PMID:28928446)
• these studies find that soluble B7H6 is constitutively expressed during pregnancy (PMID:29055565)
• B7-H6 was expressed in gliomas and correlated with glioma progression. Knockdown of B7-H6 inhibited glioma cell proliferation, colony formation, migration, and invasion via upregulation of E-cadherin and Bax, and downregulation of vimentin, N-cadherin, MMP-2, MMP-9 and survivin. (PMID:29679856)
• Altogether, these data suggested that the defective expression of NKp30 may be induced by the chronic engagement of this receptor by B7-H6 expressed on HIV-2-infected target cells. This represents a novel mechanism by which the chronic ligand exposure by the viral environment may subvert NK-cell-mediated function to establish persistent HIV-2 infection. (PMID:30325780)
• The prognostic value of B7-H6 in esophageal squamous cell carcinoma. (PMID:31792298)
• Immunological role and underlying mechanisms of B7-H6 in tumorigenesis. (PMID:31904350)
• Positive staining of the immunoligand B7-H6 in abnormal/transformed keratinocytes consistently accompanies the progression of cervical cancer. (PMID:32138659)
• Preferential Expression of B7-H6 in Glioma Stem-Like Cells Enhances Tumor Cell Proliferation via the c-Myc/RNMT Axis. (PMID:32322592)
• Dual role of B7-H6 as a novel prognostic marker in hepatocellular carcinoma. (PMID:33220098)
• Large remodeling of the Myc-induced cell surface proteome in B cells and prostate cells creates new opportunities for immunotherapy. (PMID:33483421)
• NCR3LG1 (B7-H6) is a potential prognostic factor for bladder cancer patients. (PMID:33523715)
• Secreted Ligands of the NK Cell Receptor NKp30: B7-H6 Is in Contrast to BAG6 Only Marginally Released via Extracellular Vesicles. (PMID:33671836)
• Immune checkpoint molecules B7-H6 and PD-L1 co-pattern the tumor inflammatory microenvironment in human breast cancer. (PMID:33824367)
• B7-H6 as a Diagnostic Biomarker for Cervical Squamous Cell Carcinoma. (PMID:34280008)
• B7-H6 enhances F-actin rearrangement by targeting c-MYC activation to promote medulloblastoma migration and invasion. (PMID:36692844)
• B7H6 silencing increases chemosensitivity to dacarbazine and suppresses cell survival and migration in cutaneous melanoma. (PMID:37053079)

Cross-species orthologs

1 orthologs

Organism	Symbol	Gene ID
rattus_norvegicus	Ncr3lg1	ENSRNOG00000070704

Paralogs (2): TAPBPL (ENSG00000139192), TAPBP (ENSG00000231925)

Protein

Protein identifiers

Natural cytotoxicity triggering receptor 3 ligand 1 — Q68D85 (reviewed: Q68D85)

Alternative names: B7 homolog 6

All UniProt accessions (1): Q68D85

UniProt curated annotations — full annotation on UniProt →

Function. Triggers NCR3-dependent natural killer cell activation.

Subunit / interactions. Monomer. Interacts specifically with NCR3, but not with other natural killer cell-activating receptors, including NCR1, NCR2 and KLRK1.

Subcellular location. Cell membrane.

Tissue specificity. Not detected in any normal tissue tested. Expressed at the surface of several tumor cell lines including T and B-lymphomas, myeloid leukemias, melanomas, carcinomas and large T SV40 antigen-transformed cells (at protein level).

Domain organisation. The C-terminal part is similar to retroviral Gag protein. This putative protein seems to be the result of a fusion between an Ig-like domain-containing protein and a ERV.

RefSeq proteins (1): NP_001189368* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003006	Ig/MHC_CS	Conserved_site
IPR003597	Ig_C1-set	Domain
IPR003599	Ig_sub	Domain
IPR007110	Ig-like_dom	Domain
IPR010999	Retrovr_matrix	Homologous_superfamily
IPR013783	Ig-like_fold	Homologous_superfamily
IPR036179	Ig-like_dom_sf	Homologous_superfamily
IPR036946	G_retro_matrix_sf	Homologous_superfamily
IPR050462	Retroviral_Gag-Pol_poly	Family

Pfam: PF07654

UniProt features (50 total): strand 21, glycosylation site 7, region of interest 4, helix 4, compositionally biased region 2, topological domain 2, disulfide bond 2, sequence conflict 2, domain 2, signal peptide 1, chain 1, transmembrane region 1, turn 1

Structure

Experimental structures (PDB)

4 structures.

PDB	Method	Resolution (Å)
3PV7	X-RAY DIFFRACTION	2
3PV6	X-RAY DIFFRACTION	2.3
4ZSO	X-RAY DIFFRACTION	2.5
6YJP	X-RAY DIFFRACTION	3.1

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q68D85-F1	78.05	0.50

Antibody-complex structures (SAbDab): 1 — 4ZSO

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): 48–122, 163–228

Glycosylation sites (7): 43, 57, 174, 208, 216, 242, 260

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-198933	Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell

MSigDB gene sets: 41 (showing top): REACTOME_ADAPTIVE_IMMUNE_SYSTEM, BILD_E2F3_ONCOGENIC_SIGNATURE, GOBP_ALPHA_BETA_T_CELL_ACTIVATION, GOMF_SIGNALING_RECEPTOR_BINDING, GOMF_SIGNALING_RECEPTOR_REGULATOR_ACTIVITY, KRIGE_RESPONSE_TO_TOSEDOSTAT_6HR_DN, BILD_MYC_ONCOGENIC_SIGNATURE, GOBP_LYMPHOCYTE_ACTIVATION, GOBP_NK_T_CELL_ACTIVATION, GOBP_T_CELL_ACTIVATION, HES2_TARGET_GENES, HOXB6_TARGET_GENES, NAB2_TARGET_GENES, MIR7106_5P, MIR3124_3P

GO Biological Process (2): NK T cell activation (GO:0051132), signal transduction (GO:0007165)

GO Molecular Function (2): receptor ligand activity (GO:0048018), protein binding (GO:0005515)

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

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Adaptive Immune System	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
alpha-beta T cell activation	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
signaling receptor binding	1
signal transduction	1
signaling receptor activator activity	1
binding	1
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1009 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
NCR3LG1	NCR3	O14931	999
NCR3LG1	NCR2	O95944	971
NCR3LG1	NCR1	O76036	958
NCR3LG1	PTGDR2	Q9Y5Y4	897
NCR3LG1	CD226	Q15762	788
NCR3LG1	CD276	Q5ZPR3	786
NCR3LG1	CD274	Q9NZQ7	777
NCR3LG1	NECTIN2	Q92692	774
NCR3LG1	PVR	P15151	755
NCR3LG1	KLRD1	Q13241	744
NCR3LG1	KLRC1	P26715	720
NCR3LG1	KLRK1	P26718	697
NCR3LG1	KLRC2	P26717	696
NCR3LG1	KLRF1	Q9NZS2	684
NCR3LG1	KMT2E	Q8IZD2	682

IntAct

83 interactions, top by confidence:

A	B	Type	Score
NCR3	NCR3LG1	psi-mi:“MI:0407”(direct interaction)	0.960
NCR3	NCR3LG1	psi-mi:“MI:0915”(physical association)	0.960
NCR3LG1	NCR3	psi-mi:“MI:0403”(colocalization)	0.960
NCR3LG1	NCR3	psi-mi:“MI:0915”(physical association)	0.960
NCR3LG1	NCR3	psi-mi:“MI:0407”(direct interaction)	0.960
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
KNOP1	RRP8	psi-mi:“MI:0914”(association)	0.640
MILR1	INPPL1	psi-mi:“MI:0914”(association)	0.640
NRAC	NCR3LG1	psi-mi:“MI:0915”(physical association)	0.560
TSPO	NCR3LG1	psi-mi:“MI:0915”(physical association)	0.560
NCR3LG1	PLPP6	psi-mi:“MI:0915”(physical association)	0.560
NCR3LG1	TMEM222	psi-mi:“MI:0915”(physical association)	0.560
COL4A5	NCR3LG1	psi-mi:“MI:0915”(physical association)	0.560
NCR3LG1	TMEM14C	psi-mi:“MI:0915”(physical association)	0.560
NCR3LG1	NRAC	psi-mi:“MI:0915”(physical association)	0.560
NCR3LG1	ERG28	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (113): NCR3LG1 (Affinity Capture-MS), NCR3LG1 (Affinity Capture-MS), NCR3LG1 (Affinity Capture-MS), NCR3LG1 (Affinity Capture-MS), NCR3LG1 (Affinity Capture-MS), NCR3LG1 (Affinity Capture-MS), NCR3LG1 (Affinity Capture-MS), NCR3LG1 (Affinity Capture-MS), NCR3LG1 (Affinity Capture-MS), SEC14L1 (Affinity Capture-MS), RYK (Affinity Capture-MS), ARL2 (Affinity Capture-MS), LRBA (Affinity Capture-MS), FAM73A (Affinity Capture-MS), MMS22L (Affinity Capture-MS)

ESM2 similar proteins: A4KWA5, A4KWA6, A4KWA8, B2KG20, D4AD02, O54709, O70215, P26717, P26718, P27471, P27811, P27814, P37217, P61252, Q07108, Q07444, Q0H8B9, Q149M0, Q504P2, Q5DT36, Q5DT37, Q5DT39, Q5M9I1, Q5RFR2, Q60652, Q60654, Q68D85, Q6QLQ4, Q6UXN8, Q80XD9, Q80ZC8, Q8C1T8, Q8MI05, Q8MJH1, Q8VBX4, Q8VI21, Q8WXI8, Q91V08, Q925N7, Q95MI4

Diamond homologs: C1ITJ8, O73895, O77534, P01857, P01859, P01870, P01872, P01888, P01893, P01894, P01895, P01896, P01897, P01898, P01899, P01900, P01901, P01902, P01903, P01904, P01910, P03991, P04223, P04224, P04231, P04439, P06140, P06339, P06340, P06345, P10321, P13747, P13748, P13749, P13750, P13752, P14426, P14427, P14428, P14429

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	40
Likely benign	6
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1332 predictions. Top by Δscore:

Variant	Effect	Δscore
11:17372169:G:GT	donor_gain	1.0000
11:17352038:AGG:A	donor_loss	0.9900
11:17352040:GT:G	donor_loss	0.9900
11:17352041:T:A	donor_loss	0.9900
11:17356934:A:T	donor_gain	0.9900
11:17367004:GACA:G	acceptor_loss	0.9900
11:17367006:CA:C	acceptor_loss	0.9900
11:17367007:A:AG	acceptor_gain	0.9900
11:17367007:A:C	acceptor_loss	0.9900
11:17367008:G:C	acceptor_loss	0.9900
11:17367008:G:GG	acceptor_gain	0.9900
11:17367245:G:GT	donor_gain	0.9900
11:17367344:TCTGG:T	donor_loss	0.9900
11:17367345:CTGGT:C	donor_loss	0.9900
11:17367346:TGG:T	donor_loss	0.9900
11:17367347:GGTAA:G	donor_loss	0.9900
11:17367348:GTA:G	donor_loss	0.9900
11:17367349:T:TC	donor_loss	0.9900
11:17368865:A:AG	acceptor_gain	0.9900
11:17368866:G:GG	acceptor_gain	0.9900
11:17372144:G:GT	donor_gain	0.9900
11:17372169:G:T	donor_gain	0.9900
11:17367008:GC:G	acceptor_gain	0.9800
11:17367008:GCTT:G	acceptor_gain	0.9800
11:17368861:CTGCA:C	acceptor_loss	0.9800
11:17368862:TGCA:T	acceptor_loss	0.9800
11:17368863:GCAGA:G	acceptor_loss	0.9800
11:17368864:CAGAA:C	acceptor_loss	0.9800
11:17368865:A:AC	acceptor_loss	0.9800
11:17368866:G:T	acceptor_loss	0.9800

AlphaMissense

2959 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:17367089:T:C	F168L	0.992
11:17367091:C:A	F168L	0.992
11:17367091:C:G	F168L	0.992
11:17367118:G:C	W177C	0.984
11:17367118:G:T	W177C	0.984
11:17356938:T:G	Y120D	0.974
11:17356944:T:A	C122S	0.974
11:17356945:G:C	C122S	0.974
11:17367116:T:A	W177R	0.972
11:17367116:T:C	W177R	0.972
11:17356773:T:A	W65R	0.971
11:17356773:T:C	W65R	0.971
11:17356939:A:C	Y120S	0.971
11:17356942:G:C	R121P	0.967
11:17356722:T:A	C48S	0.966
11:17356723:G:A	C48Y	0.966
11:17356723:G:C	C48S	0.966
11:17356944:T:C	C122R	0.966
11:17356724:C:G	C48W	0.957
11:17356775:G:C	W65C	0.957
11:17356775:G:T	W65C	0.957
11:17367206:T:C	F207L	0.955
11:17367208:T:A	F207L	0.955
11:17367208:T:G	F207L	0.955
11:17356938:T:C	Y120H	0.954
11:17356945:G:A	C122Y	0.952
11:17367269:T:A	C228S	0.952
11:17367270:G:C	C228S	0.952
11:17367218:A:C	S211R	0.951
11:17367220:C:A	S211R	0.951

dbSNP variants (sampled 300 via entrez): RS1000012167 (11:17357714 G>A,T), RS1000200262 (11:17360898 A>C,G), RS1000292047 (11:17351584 A>G), RS1000497696 (11:17376734 G>A), RS1000529556 (11:17377356 T>C,G), RS1000633792 (11:17376342 A>G), RS1000641184 (11:17351709 G>A,C), RS1000716764 (11:17369372 C>G,T), RS1000779976 (11:17376375 A>G), RS1000870063 (11:17362586 A>G,T), RS1000899267 (11:17362980 G>A), RS1000978637 (11:17369740 A>G), RS1000983631 (11:17356038 C>T), RS1001013311 (11:17356400 G>A,C), RS1001110227 (11:17370077 G>A)

Disease associations

OMIM: gene MIM:613714 | 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
GCST005951_68	Body mass index	3.000000e-09
GCST010272_12	Circulating leptin levels or type 2 diabetes	2.000000e-12
GCST011329_12	Body mass index and type 2 diabetes (pairwise)	2.000000e-12
GCST011331_7	Body mass index and systole blood pressure (pairwise)	9.000000e-12

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index
EFO:0005000	leptin measurement
EFO:0006335	systolic blood pressure

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects expression, increases expression, affects cotreatment, decreases methylation	4
Valproic Acid	increases expression	4
sodium arsenite	affects cotreatment, increases abundance, increases expression	2
Cisplatin	decreases expression, increases expression	2
Estradiol	increases expression	2
GSK-J4	decreases expression	1
dicrotophos	increases expression	1
triphenyl phosphate	affects expression	1
2-methyl-4-isothiazolin-3-one	increases expression	1
perfluorooctanoic acid	increases expression	1
manganese chloride	affects cotreatment, increases abundance, increases expression	1
tri-o-cresyl phosphate	increases expression	1
didecyldimethylammonium	increases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	increases expression	1
2-palmitoylglycerol	increases expression	1
entinostat	increases expression	1
nutlin 3	affects cotreatment, increases expression	1
Sunitinib	increases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Vorinostat	increases expression	1
Air Pollutants	increases abundance, increases expression	1
Air Pollutants, Occupational	increases expression	1
Arsenic	affects cotreatment, increases abundance, increases expression	1
Benzo(a)pyrene	increases methylation	1
Caffeine	decreases phosphorylation	1
Camptothecin	increases expression	1
Dactinomycin	affects cotreatment, increases expression	1
Doxorubicin	decreases expression	1
Ethyl Methanesulfonate	increases expression	1

Cellosaurus cell lines

7 cell lines: 6 cancer cell line, 1 spontaneously immortalized cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B7YF	Abcam Raji NCR3LG1 KO	Cancer cell line	Male
CVCL_B9Z4	Abcam THP-1 NCR3LG1 KO	Cancer cell line	Male
CVCL_C7AU	Abcam PC-3 NCR3LG1 KO	Cancer cell line	Male
CVCL_VA21	B16F10-B7H6	Cancer cell line	Male
CVCL_VA22	ID8-B7H6	Spontaneously immortalized cell line	Female
CVCL_VA23	RMA-B7H6	Cancer cell line	Sex unspecified
CVCL_VA24	SHSY5Y-B7H6	Cancer cell line	Female

Clinical trials (associated diseases)

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