CD84

Summary

CD84 (CD84 molecule, HGNC:1704) is a protein-coding gene on chromosome 1q23.3, encoding SLAM family member 5 (Q9UIB8). Self-ligand receptor of the signaling lymphocytic activation molecule (SLAM) family.

This gene encodes a membrane glycoprotein that is a member of the signaling lymphocyte activation molecule (SLAM) family. This family forms a subset of the larger CD2 cell-surface receptor Ig superfamily. The encoded protein is a homophilic adhesion molecule that is expressed in numerous immune cells types and is involved in regulating receptor-mediated signaling in those cells. Alternate splicing results in multiple transcript variants.

Source: NCBI Gene 8832 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 63 total
• MANE Select transcript: NM_003874

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1704
Approved symbol	CD84
Name	CD84 molecule
Location	1q23.3
Locus type	gene with protein product
Status	Approved
Aliases	SLAMF5, hCD84, mCD84
Ensembl gene	ENSG00000066294
Ensembl biotype	protein_coding
OMIM	604513
Entrez	8832

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 8 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000311224, ENST00000360056, ENST00000368047, ENST00000368048, ENST00000368051, ENST00000368054, ENST00000466767, ENST00000534968, ENST00000898393, ENST00000898394, ENST00000959040

RefSeq mRNA: 5 — MANE Select: NM_003874 NM_001184879, NM_001184881, NM_001184882, NM_001330742, NM_003874

CCDS: CCDS1206, CCDS53395, CCDS53396, CCDS53397, CCDS81388

Canonical transcript exons

ENST00000368054 — 7 exons

Exon	Start	End
ENSE00001166227	160550938	160551035
ENSE00001171673	160553378	160553497
ENSE00001315012	160579392	160579496
ENSE00001614445	160541098	160548321
ENSE00003617959	160549917	160549979
ENSE00003696574	160553895	160554146
ENSE00003697388	160565404	160565745

Expression profiles

Bgee: expression breadth ubiquitous, 237 present calls, max score 89.98.

FANTOM5 (CAGE): breadth broad, TPM avg 21.0374 / max 1759.9228, expressed in 528 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
15503	20.8762	528
15504	0.1612	85

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
tibia	UBERON:0000979	89.98	gold quality
lymph node	UBERON:0000029	89.84	gold quality
monocyte	CL:0000576	89.36	gold quality
mononuclear cell	CL:0000842	89.20	gold quality
periodontal ligament	UBERON:0008266	89.16	gold quality
vermiform appendix	UBERON:0001154	89.08	gold quality
leukocyte	CL:0000738	88.81	gold quality
trabecular bone tissue	UBERON:0002483	87.83	gold quality
superficial temporal artery	UBERON:0001614	87.11	gold quality
layer of synovial tissue	UBERON:0007616	86.60	gold quality
caecum	UBERON:0001153	86.14	gold quality
visceral pleura	UBERON:0002401	85.52	gold quality
bone element	UBERON:0001474	85.15	gold quality
synovial joint	UBERON:0002217	84.81	gold quality
pleura	UBERON:0000977	84.52	gold quality
blood	UBERON:0000178	84.26	gold quality
parietal pleura	UBERON:0002400	84.26	gold quality
lower lobe of lung	UBERON:0008949	83.97	gold quality
epithelium of nasopharynx	UBERON:0001951	83.92	gold quality
nasopharynx	UBERON:0001728	83.91	gold quality
bone marrow	UBERON:0002371	83.88	gold quality
ileal mucosa	UBERON:0000331	83.87	gold quality
germinal epithelium of ovary	UBERON:0001304	83.45	gold quality
spleen	UBERON:0002106	82.91	gold quality
bone marrow cell	CL:0002092	82.35	gold quality
buccal mucosa cell	CL:0002336	82.23	gold quality
amniotic fluid	UBERON:0000173	80.95	gold quality
tonsil	UBERON:0002372	80.62	gold quality
granulocyte	CL:0000094	80.23	gold quality
skin of hip	UBERON:0001554	80.06	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-CURD-112	yes	16.38
E-MTAB-9067	yes	11.81
E-MTAB-10042	yes	9.13
E-MTAB-5061	no	3.37
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): STAT5A, STAT5B

miRNA regulators (miRDB)

226 targeting CD84, 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-4795-3P	100.00	74.62	4024
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-6740-5P	100.00	65.64	932
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-574-5P	100.00	66.01	989
HSA-MIR-4481	100.00	66.42	1669
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-4775	99.98	75.00	6394

Literature-anchored findings (GeneRIF, showing 13)

• CD84 enhances proliferation of human activated T cells by a Src homology 2 domain-containing cytoplasmic adaptor protein SLAM-associated protein (SAP)-independent mechanism. (PMID:12928397)
• The structure of CD84 provides insight into SLAM family function. Point mutations were studied. (PMID:17563375)
• These data suggest that CD84 may play a role in modulating Fc epsilon RI-mediated signaling in mast cells. (PMID:18243321)
• CD84 is highly expressed in mast cells and that it contributes to the regulation of FcepsilonRI signaling (PMID:22068234)
• data show that overexpression of CD84 in CLL is an important survival mechanism that appears to be an early event in the pathogenesis of the disease (PMID:23435417)
• These findings support a model in which CD84 genotypes and/or expression may serve as a useful biomarker for response to etanercept treatment in RA patients of European ancestry (PMID:23555300)
• up-regulated in Kawasaki disease arteriopathy (PMID:24635044)
• Results show that CD84 expressed on CLL cells interact with CD84 expressed on cells in their microenvironment, inducing cell survival in both sides. (PMID:27452524)
• our experiments identified SLAMF5 as a novel cell surface receptor modulator of autophagy and revealed an unexpected link between the SLAMF and IRF8 signaling pathways, both implicated in multiple human pathologies. (PMID:29434592)
• Among 29 immune and inflammatory proteins, CXCL1, CD84 and TNFRSF10A were associated with early post-acute coronary syndrome (ACS) after initial ACS-admission (PMID:30514120)
• Bone marrow dendritic cells support the survival of chronic lymphocytic leukemia cells in a CD84 dependent manner. (PMID:31772329)
• CD84 is a regulator of the immunosuppressive microenvironment in multiple myeloma. (PMID:33465053)
• Terminal deoxynucleotidyl transferase and CD84 identify human multi-potent lymphoid progenitors. (PMID:39003273)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	si:cabz01074946.1	ENSDARG00000090396
mus_musculus	Cd84	ENSMUSG00000038147
rattus_norvegicus	Cd84	ENSRNOG00000022884

Paralogs (9): SLAMF7 (ENSG00000026751), CD2 (ENSG00000116824), SLAMF1 (ENSG00000117090), CD48 (ENSG00000117091), CD244 (ENSG00000122223), LY9 (ENSG00000122224), SLAMF8 (ENSG00000158714), SLAMF9 (ENSG00000162723), SLAMF6 (ENSG00000162739)

Protein

Protein identifiers

SLAM family member 5 — Q9UIB8 (reviewed: Q9UIB8)

Alternative names: Cell surface antigen MAX.3, Hly9-beta, Leukocyte differentiation antigen CD84, Signaling lymphocytic activation molecule 5

All UniProt accessions (1): Q9UIB8

UniProt curated annotations — full annotation on UniProt →

Function. Self-ligand receptor of the signaling lymphocytic activation molecule (SLAM) family. SLAM receptors triggered by homo- or heterotypic cell-cell interactions are modulating the activation and differentiation of a wide variety of immune cells and thus are involved in the regulation and interconnection of both innate and adaptive immune response. Activities are controlled by presence or absence of small cytoplasmic adapter proteins, SH2D1A/SAP and/or SH2D1B/EAT-2. Can mediate natural killer (NK) cell cytotoxicity dependent on SH2D1A and SH2D1B. Increases proliferative responses of activated T-cells and SH2D1A/SAP does not seem be required for this process. Homophilic interactions enhance interferon gamma/IFNG secretion in lymphocytes and induce platelet stimulation via a SH2D1A-dependent pathway. May serve as a marker for hematopoietic progenitor cells Required for a prolonged T-cell:B-cell contact, optimal T follicular helper function, and germinal center formation. In germinal centers involved in maintaining B-cell tolerance and in preventing autoimmunity. In mast cells negatively regulates high affinity immunoglobulin epsilon receptor signaling; independent of SH2D1A and SH2D1B but implicating FES and PTPN6/SHP-1. In macrophages enhances LPS-induced MAPK phosphorylation and NF-kappaB activation and modulates LPS-induced cytokine secretion; involving ITSM 2. Positively regulates macroautophagy in primary dendritic cells via stabilization of IRF8; inhibits TRIM21-mediated proteasomal degradation of IRF8.

Subunit / interactions. Homodimer; via its extracellular domain. Forms a head to tail dimer with a CD48 molecule from another cell. Interacts with SH2 domain-containing proteins SH2D1A/SAP and SH2D1B/EAT-2. Interacts with tyrosine-protein phosphatases PTPN6/SHP-1 and PTPN11//SHP-2 via its phosphorylated cytoplasmic domain, and this interaction is blocked by SH2D1A. Interacts (via phosphorylated ITSM 1 and 2) with INPP5D/SHIP1.

Subcellular location. Cell membrane.

Tissue specificity. Predominantly expressed in hematopoietic tissues, such as lymph node, spleen and peripheral leukocytes. Expressed in macrophages, B-cells, monocytes, platelets, thymocytes, T-cells and dendritic cells. Highly expressed in memory T-cells. Expressed in mast cells.

Post-translational modifications. Phosphorylated by tyrosine-protein kinase LCK on tyrosine residues following ligation induced by agonist monoclonal antibody. The association with SH2D1A is dependent of tyrosine phosphorylation of its cytoplasmic domain. Phosphorylated on Tyr-296 and Tyr-316 following platelet aggregation. Phosphorylated on tyrosine residues upon high affinity immunoglobulin epsilon receptor aggregation in mast cells. N-glycosylated.

Domain organisation. The ITSMs (immunoreceptor tyrosine-based switch motifs) with the consensus sequence T-X-Y-X-X-[VI] present in SLAM family receptors have overlapping specificity for activating and inhibitory SH2 domain-containingbinding partners. Especially they mediate the interaction with the SH2 domain of SH2D1A and SH2D1B. A ’three-pronged’ mechanism is proposed involving threonine (position -2), phosphorylated tyrosine (position 0) and valine/isoleucine (position +3).

Isoforms (7)

UniProt ID	Names	Canonical?
Q9UIB8-1	1, CD84a	yes
Q9UIB8-2	2, CD84b
Q9UIB8-3	3, CD84c
Q9UIB8-4	4, CD84e
Q9UIB8-5	5, CD84d
Q9UIB8-6	6, CD84s
Q9UIB8-7	7

RefSeq proteins (5): NP_001171808, NP_001171810, NP_001171811, NP_001317671, NP_003865* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003599	Ig_sub	Domain
IPR007110	Ig-like_dom	Domain
IPR013783	Ig-like_fold	Homologous_superfamily
IPR015631	CD2/SLAM_rcpt	Family
IPR036179	Ig-like_dom_sf	Homologous_superfamily

UniProt features (49 total): mutagenesis site 10, splice variant 9, strand 9, modified residue 4, topological domain 2, helix 2, domain 2, short sequence motif 2, signal peptide 1, chain 1, compositionally biased region 1, glycosylation site 1, disulfide bond 1, transmembrane region 1, sequence conflict 1, turn 1, region of interest 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2PKD	X-RAY DIFFRACTION	2.04

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UIB8-F1	74.72	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.

Post-translational modifications (4): 279, 296, 316, 341

Disulfide bonds (1): 155–193

Glycosylation sites (1): 150

Mutagenesis-validated functional residues (10):

Position	Phenotype
55	loss of dimerization.
62	no effect.
62	loss of dimerization.
77	loss of dimerization.
78	loss of dimerization.
110	loss of dimerization.
112	loss of dimerization.
119	loss of dimerization.
279	reduced tyrosine phosphorylation, reduced binding of sh2d1b and loss of binding of sh2d1a.
316	reduced tyrosine phosphorylation and reduced binding of sh2d1b. loss of phosphorylation and loss of binding of sh2d1a an

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-202733	Cell surface interactions at the vascular wall
R-HSA-109582	Hemostasis

MSigDB gene sets: 291 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_DN, GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_DN, GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_DN, GOBP_REGULATION_OF_CELL_ACTIVATION, MULLIGHAN_NPM1_SIGNATURE_3_UP, MCLACHLAN_DENTAL_CARIES_UP, GOBP_NEGATIVE_REGULATION_OF_LEUKOCYTE_MEDIATED_IMMUNITY, GOBP_REGULATION_OF_EXOCYTOSIS, GOCC_CELL_SURFACE, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_NEGATIVE_REGULATION_OF_EXOCYTOSIS, GOBP_NEGATIVE_REGULATION_OF_REGULATED_SECRETORY_PATHWAY, GOBP_LEUKOCYTE_MEDIATED_IMMUNITY, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT

GO Biological Process (14): adaptive immune response (GO:0002250), autophagy (GO:0006914), defense response (GO:0006952), immune response (GO:0006955), homophilic cell-cell adhesion (GO:0007156), negative regulation of granulocyte macrophage colony-stimulating factor production (GO:0032685), negative regulation of interleukin-18 production (GO:0032701), negative regulation of mast cell activation (GO:0033004), T cell activation (GO:0042110), negative regulation of mast cell degranulation (GO:0043305), innate immune response (GO:0045087), regulation of store-operated calcium entry (GO:2001256), immune system process (GO:0002376), cell adhesion (GO:0007155)

GO Molecular Function (2): identical protein binding (GO:0042802), protein binding (GO:0005515)

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
Hemostasis	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
immune response	2
negative regulation of cytokine production	2
catabolic process	1
transmembrane transport	1
process utilizing autophagic mechanism	1
response to stress	1
immune system process	1
response to stimulus	1
cell-cell adhesion	1
granulocyte macrophage colony-stimulating factor production	1
regulation of granulocyte macrophage colony-stimulating factor production	1
negative regulation of protein metabolic process	1
interleukin-18 production	1
regulation of interleukin-18 production	1
negative regulation of leukocyte activation	1
regulation of mast cell activation	1
mast cell activation	1
lymphocyte activation	1
negative regulation of myeloid leukocyte mediated immunity	1
negative regulation of leukocyte degranulation	1
mast cell degranulation	1
regulation of mast cell degranulation	1
defense response to symbiont	1
store-operated calcium entry	1
regulation of calcium ion transport	1
biological_process	1
cellular process	1
protein binding	1
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

2016 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CD84	SH2D1A	O60880	948
CD84	SH2D1B	O14796	936
CD84	CD48	P09326	862
CD84	CTLA4	P16410	821
CD84	CD2	P06729	714
CD84	PTPN11	Q06124	556
CD84	NCR1	O76036	535
CD84	FYN	P06241	510
CD84	VAV1	P15498	496
CD84	DOK2	O60496	486
CD84	ICOS	Q9Y6W8	477
CD84	MAPK6	Q16659	467
CD84	CD4	P01730	450
CD84	CXCR5	P32302	447
CD84	SLAMF1	Q13291	443

IntAct

12 interactions, top by confidence:

A	B	Type	Score
CD84	CD84	psi-mi:“MI:0407”(direct interaction)	0.720
SH2D1B	CD84	psi-mi:“MI:0914”(association)	0.530
SH2D1A	CD84	psi-mi:“MI:0914”(association)	0.530
CUL3	PXDNL	psi-mi:“MI:0914”(association)	0.350
ABL2	MPIG6B	psi-mi:“MI:0914”(association)	0.350
SH2D1B	TGFB1I1	psi-mi:“MI:0914”(association)	0.350

BioGRID (13): CD84 (Affinity Capture-Western), CD84 (Reconstituted Complex), CD84 (Affinity Capture-Western), SH2D1A (Affinity Capture-Western), SH2D1B (Affinity Capture-Western), CD84 (Affinity Capture-Western), CD84 (Two-hybrid), PTPN11 (Affinity Capture-Western), Sh2d1b1 (Affinity Capture-Western), CD84 (Affinity Capture-MS), CD84 (Cross-Linking-MS (XL-MS)), CD84 (Affinity Capture-MS), CD84 (Affinity Capture-MS)

ESM2 similar proteins: A2A7V7, A2TGX5, A5D7B2, G3X8R9, O88875, O95944, P0DMS9, P11912, P12318, P15530, P16410, P22273, P31785, P31994, P31995, P34902, P40259, P50283, Q02242, Q1ERP8, Q2LA85, Q2YFS1, Q2YFS2, Q2YFS3, Q3LRV9, Q3U497, Q566E6, Q5T2D2, Q60513, Q6SJQ0, Q6SJQ5, Q6SJQ7, Q6TYI6, Q6UXG3, Q6UXN2, Q7TSN2, Q86YW5, Q8K558, Q8SPV8, Q8TDQ1

Diamond homologs: Q01965, Q18PI6, Q8BHK6, Q96A28, Q96DU3, Q9D780, Q9HBG7, Q9NQ25, Q9UIB8, Q9ET39, P42071, Q3KPI0, Q4VAH7, Q9P0V8, A4FUY1, Q14CZ8, Q640R3, Q13291

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
hsa-mir-146a-5p	“down-regulates quantity by repression”	CD84	“post transcriptional regulation”

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	51
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1097 predictions. Top by Δscore:

Variant	Effect	Δscore
1:160565402:A:AC	donor_gain	0.9900
1:160565403:C:CC	donor_gain	0.9900
1:160579390:A:AC	donor_gain	0.9900
1:160579391:C:CC	donor_gain	0.9900
1:160554148:T:A	acceptor_loss	0.9800
1:160554591:A:C	donor_gain	0.9800
1:160565403:CG:C	donor_gain	0.9800
1:160565403:CGATA:C	donor_gain	0.9800
1:160579391:CA:C	donor_gain	0.9800
1:160579391:CAG:C	donor_gain	0.9800
1:160579391:CAGG:C	donor_gain	0.9800
1:160579391:CAGGT:C	donor_gain	0.9800
1:160553891:TTACC:T	donor_loss	0.9700
1:160553892:T:TG	donor_loss	0.9700
1:160553893:A:AG	donor_loss	0.9700
1:160553894:CCT:C	donor_loss	0.9700
1:160553895:C:A	donor_loss	0.9700
1:160554586:A:AC	donor_gain	0.9700
1:160565392:C:A	donor_gain	0.9700
1:160565395:ATGAC:A	donor_loss	0.9700
1:160565396:TGACT:T	donor_loss	0.9700
1:160565397:GAC:G	donor_loss	0.9700
1:160565398:ACTTA:A	donor_loss	0.9700
1:160565399:CT:C	donor_loss	0.9700
1:160565400:TTA:T	donor_loss	0.9700
1:160565401:TACGA:T	donor_loss	0.9700
1:160565402:ACGA:A	donor_loss	0.9700
1:160565403:CGAT:C	donor_gain	0.9700
1:160579385:AACTC:A	donor_loss	0.9700
1:160579386:ACT:A	donor_loss	0.9700

AlphaMissense

2139 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:160554031:C:A	W168C	0.990
1:160554031:C:G	W168C	0.990
1:160565630:C:A	W54C	0.990
1:160565630:C:G	W54C	0.990
1:160565632:A:G	W54R	0.989
1:160565632:A:T	W54R	0.989
1:160553957:C:G	C193S	0.987
1:160553958:A:T	C193S	0.987
1:160554077:A:G	L153P	0.987
1:160553944:G:C	N197K	0.984
1:160553944:G:T	N197K	0.984
1:160554072:A:G	C155R	0.984
1:160554033:A:G	W168R	0.983
1:160554033:A:T	W168R	0.983
1:160565467:C:G	A109P	0.983
1:160554071:C:G	C155S	0.982
1:160554072:A:T	C155S	0.982
1:160565415:A:G	L126P	0.980
1:160565484:T:G	D103A	0.979
1:160553958:A:G	C193R	0.978
1:160565676:A:G	F39S	0.978
1:160565541:C:G	R84P	0.977
1:160565473:A:C	Y107D	0.976
1:160553956:A:C	C193W	0.975
1:160553935:G:C	S200R	0.974
1:160553935:G:T	S200R	0.974
1:160553937:T:G	S200R	0.974
1:160565422:A:C	Y124D	0.973
1:160553957:C:T	C193Y	0.972
1:160554070:G:C	C155W	0.972

dbSNP variants (sampled 300 via entrez): RS1000073501 (1:160554570 T>C), RS1000319937 (1:160569526 A>G), RS1000327495 (1:160553730 C>T), RS1000475171 (1:160564180 C>T), RS1000479310 (1:160545793 C>G,T), RS1000517079 (1:160561745 A>T), RS1000545503 (1:160562387 A>G), RS1000644010 (1:160555344 A>T), RS1000649354 (1:160569632 C>T), RS1000665038 (1:160555167 G>A), RS1000772629 (1:160567158 C>A,T), RS1000884962 (1:160549614 G>A,C), RS1000934121 (1:160543927 T>A), RS1001052691 (1:160578005 A>G), RS1001220643 (1:160549341 C>T)

Disease associations

OMIM: gene MIM:604513 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST001926_1	Response to anti-TNF therapy in rheumatoid arthritis	2.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004653	response to TNF antagonist

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB clinical annotations

1 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs6427528	Efficacy	3	etanercept	Psoriasis;Rheumatoid arthritis

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs6427528	CD84	3	2.00	1	etanercept

CTD chemical–gene interactions

24 total (human), top 24 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sulforaphane	increases expression, decreases expression	2
(+)-JQ1 compound	decreases expression	2
Nickel	increases expression	2
triphenyl phosphate	affects expression	1
dibutyldichlorotin	increases expression	1
di-n-butylphosphoric acid	affects expression	1
Pioglitazone	decreases expression	1
Arsenic Trioxide	increases expression	1
Air Pollutants	affects expression, increases abundance	1
Amphotericin B	increases expression	1
Hexachlorocyclohexane	increases expression	1
Benzo(a)pyrene	affects methylation	1
Cyclophosphamide	increases expression	1
Diazinon	increases expression	1
Mercury	decreases expression	1
Ozone	affects expression, increases abundance	1
Prednisolone	increases expression	1
Tretinoin	increases expression	1
Fatty Acids, Omega-3	increases expression	1
Aflatoxin B1	decreases methylation	1
Sodium Selenite	decreases expression	1
Antirheumatic Agents	decreases expression	1
Sirolimus	increases expression	1
Fatty Acids, Omega-6	decreases expression	1

Clinical trials (associated diseases)

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