NCR2

Summary

NCR2 (natural cytotoxicity triggering receptor 2, HGNC:6732) is a protein-coding gene on chromosome 6p21.1, encoding Natural cytotoxicity triggering receptor 2 (O95944). Cytotoxicity-activating receptor that may contribute to the increased efficiency of activated natural killer (NK) cells to mediate tumor cell lysis.

Predicted to enable signaling receptor activity. Predicted to be involved in cellular defense response and signal transduction. Predicted to be located in plasma membrane. Predicted to be active in cell surface.

Source: NCBI Gene 9436 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 49 total
• MANE Select transcript: NM_004828

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:6732
Approved symbol	NCR2
Name	natural cytotoxicity triggering receptor 2
Location	6p21.1
Locus type	gene with protein product
Status	Approved
Aliases	NK-p44, CD336
Ensembl gene	ENSG00000096264
Ensembl biotype	protein_coding
OMIM	604531
Entrez	9436

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000373083, ENST00000373086, ENST00000373089

RefSeq mRNA: 3 — MANE Select: NM_004828 NM_001199509, NM_001199510, NM_004828

CCDS: CCDS4855, CCDS56428, CCDS56429

Canonical transcript exons

ENST00000373089 — 5 exons

Exon	Start	End
ENSE00000511541	41342036	41342149
ENSE00000750672	41341794	41341929
ENSE00000849886	41336087	41336428
ENSE00001459490	41350678	41350889
ENSE00001518044	41335608	41335928

Expression profiles

Bgee: expression breadth broad, 35 present calls, max score 87.44.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0682 / max 54.8247, expressed in 12 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
67745	0.0438	10
67747	0.0173	5
67746	0.0071	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
olfactory bulb	UBERON:0002264	87.44	gold quality
type B pancreatic cell	CL:0000169	87.28	gold quality
diaphragm	UBERON:0001103	86.54	gold quality
pancreatic ductal cell	CL:0002079	85.77	silver quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	84.72	gold quality
endometrium epithelium	UBERON:0004811	84.65	gold quality
hair follicle	UBERON:0002073	82.11	gold quality
tibialis anterior	UBERON:0001385	79.97	gold quality
tongue squamous epithelium	UBERON:0006919	79.22	gold quality
quadriceps femoris	UBERON:0001377	79.21	gold quality
vastus lateralis	UBERON:0001379	79.03	gold quality
left ventricle myocardium	UBERON:0006566	78.67	gold quality
buccal mucosa cell	CL:0002336	78.53	gold quality
cardiac muscle of right atrium	UBERON:0003379	78.24	gold quality
biceps brachii	UBERON:0001507	78.11	gold quality
ileal mucosa	UBERON:0000331	78.08	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	77.96	gold quality
epithelial cell of pancreas	CL:0000083	77.36	gold quality
gingival epithelium	UBERON:0001949	77.33	silver quality
deltoid	UBERON:0001476	77.27	silver quality
CA1 field of hippocampus	UBERON:0003881	76.89	gold quality
tendon of biceps brachii	UBERON:0008188	76.59	silver quality
mucosa of urinary bladder	UBERON:0001259	75.46	gold quality
gluteal muscle	UBERON:0002000	75.41	gold quality
frontal pole	UBERON:0002795	75.31	gold quality
paraflocculus	UBERON:0005351	75.02	gold quality
gingiva	UBERON:0001828	74.54	silver quality
middle frontal gyrus	UBERON:0002702	74.35	gold quality
secondary oocyte	CL:0000655	74.32	silver quality
squamous epithelium	UBERON:0006914	73.30	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-GEOD-70580	yes	535.57
E-ANND-3	no	1.14

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

26 targeting NCR2, 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-7110-3P	100.00	73.18	2486
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-3119	99.92	71.34	2390
HSA-MIR-4302	99.89	67.94	1187
HSA-MIR-6817-3P	99.79	68.35	2126
HSA-MIR-3942-3P	99.57	69.03	2854
HSA-MIR-12123	99.52	71.79	2990
HSA-MIR-4710	98.61	65.96	1048
HSA-MIR-3689A-5P	98.35	70.12	1049
HSA-MIR-3689B-5P	98.35	70.12	1049
HSA-MIR-3689E	98.35	70.12	1049
HSA-MIR-3689F	98.35	70.08	1052
HSA-MIR-6841-3P	98.08	66.54	604
HSA-MIR-6815-5P	96.05	65.55	662
HSA-MIR-6865-5P	96.05	65.58	675

Literature-anchored findings (GeneRIF, showing 40)

• crystallization and preliminary crystallographic characterization of the extracellular Ig-like domain of human natural killer cell activating receptor (PMID:12351833)
• The human TREM gene cluster at 6p21.1 encodes both activating and inhibitory single IgV domain receptors and includes NKp44. (PMID:12645956)
• homology of the gene on chromosome 6, close to MHC class I loci to the most common bacterium in postdiarrheal Reiter’s syndrome may be significan (PMID:12653925)
• Selective cross-talk among natural cytotoxicity receptors (NKp46, NKp30 and NKp44) in human natural killer cells. (PMID:12731048)
• The 2.2 A crystal structure of NKp44 presented here shows that the NKp44 Ig domain forms a saddle-shaped dimer, where a charged surface groove protrudes from the core structure in each subunit. (PMID:12791260)
• All activating properties and surface expression of NKp44 are mediated through its association with DNAX-activation protein 12 (DAP12) in NK cells, and the cytoplasmic inhibitory domain of NKp44 does not appear to attenuate activating function. (PMID:14707061)
• NKG2D, NKp30, NKp44, and NKp46 acitvation affected by ligand-negative phenotype in bone marrow-derived progenitor cells, acquisition of cell-surface ligands during myeloid differentiation, defective expression of ligands on malignant transformation (PMID:15657183)
• NKp44 is not only a triggering molecule essential for antitumor activity but is also a surface receptor involved in natural killer cell suicide. (PMID:15728472)
• NKp44 is present on a subset of natural interferon-producing cells (IPCs) in tonsils. Crosslinking of NKp44 does not trigger IPC-mediated cytotoxicity but, paradoxically, inhibits IFN-alpha production by IPCs in response to CpG oligonucleotides. (PMID:15941912)
• Freshly isolated natural killer (NK) cells are NKp44 negative; lysis of porcine endothelial cells mediated by activated human NK cells depends on both NKp44 and NKG2D (PMID:16210654)
• Characterization of the recognition of tumor cells by NKP44 is reported. (PMID:17536787)
• Determined expressions of NKp44 in decidual natural killer cells in patients having spontaneous abortions. (PMID:18023431)
• Recombinant NKp44 recognizes H5-expressing cells and specifically interacts with soluble H5 hemagglutinin. (PMID:18077718)
• Expression of NKp30 and NKp44 ligands was variable and did not correlate with the origin of the cell line. Expression of NKp30 and NKp44 ligand correlated with NKp30 and NKp44-mediated NK cell lysis of tumor cells, respectively (PMID:18092004)
• Natural killer (NK)-activating receptor NKp44 is involved in virally mediated NK activation through direct interaction with the flavivirus envelope protein. (PMID:19635919)
• The balance of NKp44(+)/NKp46(+) NK cells is disrupted in intestinal mucosa of patients with Crohn’s disease. (PMID:20638936)
• Data show that pDCs isolated from peripheral blood of systemic lupus erithematosus (SLE) patients express lower levels of LAIR-1 while displaying slight but consistent expression of NKp44. (PMID:21151495)
• We demonstrate that PCNA promotes cancer survival by immune evasion through inhibition of NKp44-mediated NK cell attack. (PMID:22021614)
• a precise analysis of clinical data showed a correlation between decreased NCR expression and poor prognosis factors such as low haemoglobin level, high (>30x10(9) per litre) lymphocyte count or elevated C-reactive protein (PMID:22044312)
• These data show that the Kaposi’s sarcoma-associated herpesvirus ORF54 product downregulates the NKp44 ligand and that the NKp44-NKp44 ligand signaling pathway contributes to antiviral immunity. (PMID:22674989)
• Natural cytotoxicity receptors play a major role in the recognition by NK cells of cancer stem cells targets. (PMID:23345327)
• Novel interaction between proliferating cell nuclear antigen and HLA I on the surface of tumor cells inhibits NK cell function through NKp44. (PMID:23527218)
• While interaction of TLR2 with mycobacterial cell wall promotes activation of resting NK cells and IFN-gamma production, NKp44 interaction with its putative ligands could play a secondary role in maintaining cell activation (PMID:23578092)
• triggering in RORgammat-positive innate lymphoid cells selectively activates a proinflammatory program (PMID:23791642)
• Natural killer cells in HIV controller patients express an activated effector phenotype and do not up-regulate NKp44 on IL-2 stimulation. (PMID:23818644)
• MLL5 is a cellular ligand for the natural cytotoxicity receptor NKp44. (PMID:23958951)
• Expression of NKp44 ligand by normal articular chondrocytes is not involved in their killing by unstimulated NK cells; however, it is responsible for anti-chondrocyte cytotoxicity mediated by long-term activated NK cells. (PMID:24044960)
• demonstrated that the mitogen and iK562 exposure to peripheral blood mononuclear cells can significantly improve NK activity which is co-related to the higher expression of NKp44 and NKG2D (PMID:24154937)
• NKp44+ ILC3 are expressed in human skin and blood and may have a role in psoriasis pathogenesis (PMID:24352038)
• NCR(+) ILC3 from skin and blood of psoriasis patients produced IL-22, which is regarded as a key driver of epidermal thickening, suggesting that NCR(+) ILC3 may participate in psoriasis pathology. (PMID:24658504)
• Balance between activating NKG2D, DNAM-1, NKp44 and NKp46 and inhibitory CD94/NKG2A receptors determine natural killer degranulation towards rheumatoid arthritis synovial fibroblasts. (PMID:24673109)
• On CD56(+) CD3(-) cells, NKp44 and NKp46 expressions were high in the acute hepatitis E patients, whereas NKp30, NKp44, NKp46 and NKG2D were high in the recovered individuals. (PMID:24824867)
• NKp44-1 expression was significantly associated with poor survival of AML patients. Moreover, activation of PBMC from healthy controls showed co-dominant expression of NKp44-1 and NKp44-3, while primary NK clones show more diverse NKp44 splice variant profiles. (PMID:27102296)
• NKp44 and NKp30 splice variants profiles are tissue/condition specific and demonstrate similarity between placenta and cancerous tissues. (PMID:27765926)
• Increased expression of p44 natural killer cell receptor (NKp44 ) was associated earlier stages of diffuse large B-cell lymphoma (DLBCL). (PMID:29247708)
• Study identified a novel ligand for NKp44 on astrocytes. Expression of this novel ligand decreased with increasing HIV-3S peptide concentration and blocking this novel ligand decreased NK cell killing. NK cell killing of astrocytes was decreased when astrocytes were incubated with HIV-3S peptide. NKp44 has a protective effect on astrocytes from NK cell mediated killing during HIV infection and impact astrocyte’s role. (PMID:29447242)
• The regulation of T cell proliferation during HPIV3 infection is mediated via NK receptors NKp44 and NKp46 and involves the surface glycoprotein haemagglutinin-neuraminidase but not the fusion protein of the virus. (PMID:29683419)
• We therefore identified the NKp44 binding site to PCNA and further developed an NKp44-peptide-based agent that can inhibit tumor growth through interfering with the function of intracellular PCNA in the tumor cell. (PMID:29875773)
• NKp44-NKp44 Ligand Interactions in the Regulation of Natural Killer Cells and Other Innate Lymphoid Cells in Humans. (PMID:31024551)
• The Natural Cytotoxicity Receptors in Health and Disease. (PMID:31134055)

Cross-species orthologs

0 orthologs

Paralogs (2): TREML2 (ENSG00000112195), TREML4 (ENSG00000188056)

Protein

Protein identifiers

Natural cytotoxicity triggering receptor 2 — O95944 (reviewed: O95944)

Alternative names: Lymphocyte antigen 95 homolog, NK cell-activating receptor, Natural killer cell p44-related protein

All UniProt accessions (1): O95944

UniProt curated annotations — full annotation on UniProt →

Function. Cytotoxicity-activating receptor that may contribute to the increased efficiency of activated natural killer (NK) cells to mediate tumor cell lysis.

Subunit / interactions. Interacts with TYROBP/DAP12. Interacts with KMT2E isoform NKp44L.

Subcellular location. Cell membrane.

Tissue specificity. Selectively expressed by activated NK cells and by in vitro cultured (i.e. activated) TCRg/d lymphoid cells.

Similarity. Belongs to the natural cytotoxicity receptor (NCR) family.

Isoforms (3)

UniProt ID	Names	Canonical?
O95944-1	1	yes
O95944-2	2, NKp44RG2
O95944-3	3, NKp44RG1

RefSeq proteins (3): NP_001186438, NP_001186439, NP_004819* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003599	Ig_sub	Domain
IPR007110	Ig-like_dom	Domain
IPR013106	Ig_V-set	Domain
IPR013783	Ig-like_fold	Homologous_superfamily
IPR036179	Ig-like_dom_sf	Homologous_superfamily
IPR052314	Immune_rcpt_domain	Family

Pfam: PF07686

UniProt features (29 total): strand 8, sequence variant 4, disulfide bond 2, splice variant 2, topological domain 2, turn 2, compositionally biased region 2, signal peptide 1, chain 1, helix 1, transmembrane region 1, domain 1, region of interest 1, glycosylation site 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
1HKF	X-RAY DIFFRACTION	2.2

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O95944-F1	74.97	0.40

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): 40–109, 55–63

Glycosylation sites (1): 180

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-198933	Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
R-HSA-2172127	DAP12 interactions
R-HSA-1280218	Adaptive Immune System
R-HSA-168249	Innate Immune System
R-HSA-168256	Immune System

MSigDB gene sets: 37 (showing top): REACTOME_INNATE_IMMUNE_SYSTEM, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, GOCC_CELL_SURFACE, GOBP_CELLULAR_DEFENSE_RESPONSE, GOMF_TRANSMEMBRANE_SIGNALING_RECEPTOR_ACTIVITY, MOREAUX_MULTIPLE_MYELOMA_BY_TACI_UP, SU_PANCREAS, HUTTMANN_B_CLL_POOR_SURVIVAL_UP, ZWANG_DOWN_BY_2ND_EGF_PULSE, REACTOME_DAP12_INTERACTIONS, PBXIP1_TARGET_GENES, MIR3942_3P, MIR4302, MIR6841_3P, GSE1460_INTRATHYMIC_T_PROGENITOR_VS_NAIVE_CD4_TCELL_CORD_BLOOD_DN

GO Biological Process (2): cellular defense response (GO:0006968), signal transduction (GO:0007165)

GO Molecular Function (3): transmembrane signaling receptor activity (GO:0004888), signaling receptor activity (GO:0038023), protein binding (GO:0005515)

GO Cellular Component (3): plasma membrane (GO:0005886), cell surface (GO:0009986), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Immune System	2
Adaptive Immune System	1
Innate Immune System	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
defense response	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
signaling receptor activity	1
molecular transducer activity	1
binding	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

1026 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
NCR2	TYROBP	O43914	997
NCR2	NCR1	O76036	995
NCR2	NCR3	O14931	995
NCR2	KMT2E	Q8IZD2	979
NCR2	NCR3LG1	Q68D85	971
NCR2	KLRK1	P26718	963
NCR2	NID1	P14543	953
NCR2	CD247	P20963	935
NCR2	MICB	P79525	932
NCR2	FCGR3A	P08637	893
NCR2	NCAM1	P13591	893
NCR2	FCER1G	P30273	877
NCR2	FCGR3B	O75015	872
NCR2	PRF1	P14222	867
NCR2	HCST	Q9UBK5	852

IntAct

16 interactions, top by confidence:

A	B	Type	Score
PCNA	NCR2	psi-mi:“MI:0407”(direct interaction)	0.670
PCNA	NCR2	psi-mi:“MI:0915”(physical association)	0.670
NCR2	KMT2E	psi-mi:“MI:0915”(physical association)	0.610
KMT2E	NCR2	psi-mi:“MI:0915”(physical association)	0.610
NCR2	TYROBP	psi-mi:“MI:0915”(physical association)	0.590
B2M	NCR2	psi-mi:“MI:0915”(physical association)	0.400
NCR2	KMT2E	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (3): NCR2 (Affinity Capture-MS), NCR2 (Synthetic Lethality), TYROBP (Affinity Capture-Western)

ESM2 similar proteins: A2A7V7, A2TGX5, A5D7B2, A8K4G0, B6A8R8, C0HJX2, C0HJX3, O15389, O43699, O95944, P12318, P20138, P24071, P27645, P43626, P43627, P43628, P43629, P43630, P43631, P43632, P50283, Q1ERP8, Q3LRV9, Q3U497, Q566E6, Q60513, Q6DN72, Q6SJQ0, Q6SJQ5, Q6SJQ7, Q6UXG3, Q6UXN2, Q6UXZ3, Q7TSN2, Q8K249, Q8N109, Q8NHK3, Q8R4Y0, Q8SPV8

Diamond homologs: A0A0K2S4Q6, A2A7V7, A2TGX5, A5D7B2, O70570, O95944, P01832, P01833, P0DUB1, P81265, Q08708, Q1ERP8, Q2TB54, Q3U497, Q496F6, Q566E6, Q6SJQ0, Q6SJQ5, Q6SJQ7, Q6UXG3, Q6UXZ3, Q7TSN2, Q8K249, Q8TDQ1, Q8VCH2, Q9UGN4, A8K4G0, G3X8R9, P0DMS9, P15083, Q2LA85, Q3LRV9, Q5RDA5, Q5T2D2, Q6UXN2, Q99NH8, Q9JKE2, A1KXC4, O60667, Q29244

SIGNOR signaling

4 interactions.

A	Effect	B	Mechanism
KMT2E	“up-regulates activity”	NCR2	binding
PCNA	“down-regulates activity”	NCR2	binding
NCR2	up-regulates	Immune_response

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	41
Likely benign	4
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

531 predictions. Top by Δscore:

Variant	Effect	Δscore
6:41341792:A:AG	acceptor_gain	0.9900
6:41341793:G:GA	acceptor_gain	0.9900
6:41341793:GCCT:G	acceptor_gain	0.9900
6:41341930:G:GG	donor_gain	0.9900
6:41335924:CCCAG:C	donor_loss	0.9800
6:41335925:CCAG:C	donor_loss	0.9800
6:41335926:CAGG:C	donor_loss	0.9800
6:41335927:AGGT:A	donor_loss	0.9800
6:41335928:GGT:G	donor_loss	0.9800
6:41335929:GTGAG:G	donor_loss	0.9800
6:41335930:T:G	donor_loss	0.9800
6:41341788:T:TA	acceptor_gain	0.9800
6:41341793:GCCTC:G	acceptor_gain	0.9800
6:41341892:GCCCC:G	donor_gain	0.9800
6:41350676:AGGG:A	acceptor_gain	0.9800
6:41350677:GGGG:G	acceptor_gain	0.9800
6:41341793:GC:G	acceptor_gain	0.9700
6:41350672:TTGCA:T	acceptor_loss	0.9700
6:41350673:TGCA:T	acceptor_loss	0.9700
6:41350674:GCAG:G	acceptor_loss	0.9700
6:41350675:CA:C	acceptor_loss	0.9700
6:41350676:A:G	acceptor_loss	0.9700
6:41350676:AGG:A	acceptor_gain	0.9700
6:41350676:AGGGG:A	acceptor_gain	0.9700
6:41350677:GGG:G	acceptor_gain	0.9700
6:41350677:GGGGG:G	acceptor_gain	0.9700
6:41341793:GCC:G	acceptor_gain	0.9600
6:41350676:AG:A	acceptor_gain	0.9600
6:41350677:GG:G	acceptor_gain	0.9600
6:41341790:GCA:G	acceptor_loss	0.9500

AlphaMissense

1755 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:41336315:T:A	V94D	0.991
6:41336359:T:A	C109S	0.988
6:41336360:G:C	C109S	0.988
6:41336196:G:C	W54C	0.987
6:41336196:G:T	W54C	0.987
6:41336152:T:A	C40S	0.986
6:41336153:G:C	C40S	0.986
6:41336190:A:C	K52N	0.983
6:41336190:A:T	K52N	0.983
6:41336159:A:G	Y42C	0.981
6:41336342:A:G	D103G	0.980
6:41336239:A:C	S69R	0.979
6:41336241:C:A	S69R	0.979
6:41336241:C:G	S69R	0.979
6:41336342:A:C	D103A	0.979
6:41336194:T:A	W54R	0.978
6:41336194:T:C	W54R	0.978
6:41336197:T:A	C55S	0.978
6:41336198:G:C	C55S	0.978
6:41336221:T:A	C63S	0.978
6:41336222:G:C	C63S	0.978
6:41336287:G:C	D85H	0.977
6:41336353:T:G	Y107D	0.977
6:41336359:T:C	C109R	0.977
6:41336354:A:G	Y107C	0.975
6:41336152:T:C	C40R	0.974
6:41336202:G:C	K56N	0.974
6:41336202:G:T	K56N	0.974
6:41336342:A:T	D103V	0.974
6:41336222:G:A	C63Y	0.971

dbSNP variants (sampled 300 via entrez): RS1000061826 (6:41342943 C>T), RS1000162014 (6:41342758 G>A), RS1000356073 (6:41348189 C>A), RS1000720632 (6:41336844 G>C), RS1000790741 (6:41348019 C>G), RS1000812727 (6:41334402 G>C,T), RS1001181486 (6:41334185 C>A), RS1001387212 (6:41339211 G>A), RS1001783558 (6:41341776 C>A,G,T), RS1002044578 (6:41346603 C>G,T), RS1002188802 (6:41344430 C>G,T), RS1002313553 (6:41349478 T>C), RS1002365619 (6:41349769 G>A), RS1002417087 (6:41347015 C>T), RS1002468910 (6:41339189 G>A)

Disease associations

OMIM: gene MIM:604531 | 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
GCST000898_5	Total ventricular volume	2.000000e-06
GCST001888_2	Periodontitis	8.000000e-08
GCST001951_6	Alzheimer’s disease biomarkers	4.000000e-08
GCST005143_2	Telomere length	1.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004763	p-tau measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
GSK-J4	decreases expression	1
pentanal	increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Benzo(a)pyrene	affects methylation	1
Estradiol	affects cotreatment, increases expression	1
Mycophenolic Acid	decreases expression	1
Ozone	decreases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Progesterone	affects cotreatment, increases expression	1
Zinc Sulfate	increases expression	1

Clinical trials (associated diseases)

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