CD83

Summary

CD83 (CD83 molecule, HGNC:1703) is a protein-coding gene on chromosome 6p23, encoding CD83 antigen (Q01151). Transmembrane glycoprotein predominantly found on the surface of many immune cells including dendritic cells or lymphocytes that plays various roles in immune response regulation.

The protein encoded by this gene is a single-pass type I membrane protein and member of the immunoglobulin superfamily of receptors. The encoded protein may be involved in the regulation of antigen presentation. A soluble form of this protein can bind to dendritic cells and inhibit their maturation. Three transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 9308 — RefSeq curated summary.

At a glance

• GWAS associations: 13
• Clinical variants (ClinVar): 44 total — 1 pathogenic, 1 likely-pathogenic
• MANE Select transcript: NM_004233

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1703
Approved symbol	CD83
Name	CD83 molecule
Location	6p23
Locus type	gene with protein product
Status	Approved
Aliases	HB15, BL11
Ensembl gene	ENSG00000112149
Ensembl biotype	protein_coding
OMIM	604534
Entrez	9308

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 4 protein_coding

ENST00000379153, ENST00000612003, ENST00000857144, ENST00000925000

RefSeq mRNA: 3 — MANE Select: NM_004233 NM_001040280, NM_001251901, NM_004233

CCDS: CCDS4532, CCDS75403

Canonical transcript exons

ENST00000379153 — 5 exons

Exon	Start	End
ENSE00000686195	14131520	14131748
ENSE00000686199	14133649	14133755
ENSE00000848078	14117950	14118065
ENSE00001479915	14117772	14117848
ENSE00003846285	14135108	14136906

Expression profiles

Bgee: expression breadth ubiquitous, 276 present calls, max score 98.27.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 113.3256 / max 6715.1568, expressed in 1174 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
65976	113.1274	1171
65977	0.1119	42
65978	0.0863	37

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
adrenal tissue	UBERON:0018303	98.27	gold quality
secondary oocyte	CL:0000655	96.92	gold quality
endothelial cell	CL:0000115	95.73	gold quality
oocyte	CL:0000023	94.81	gold quality
middle temporal gyrus	UBERON:0002771	94.37	gold quality
visceral pleura	UBERON:0002401	93.96	gold quality
Brodmann (1909) area 23	UBERON:0013554	93.45	gold quality
pleura	UBERON:0000977	93.41	gold quality
parietal pleura	UBERON:0002400	92.92	gold quality
tonsil	UBERON:0002372	92.22	gold quality
epithelium of nasopharynx	UBERON:0001951	91.98	gold quality
lateral nuclear group of thalamus	UBERON:0002736	91.79	gold quality
cartilage tissue	UBERON:0002418	91.71	gold quality
lymph node	UBERON:0000029	91.66	gold quality
vermiform appendix	UBERON:0001154	91.61	gold quality
nephron tubule	UBERON:0001231	91.41	gold quality
pons	UBERON:0000988	91.17	gold quality
parotid gland	UBERON:0001831	91.12	gold quality
choroid plexus epithelium	UBERON:0003911	90.81	gold quality
caecum	UBERON:0001153	90.62	gold quality
endocervix	UBERON:0000458	90.09	gold quality
monocyte	CL:0000576	89.97	gold quality
mononuclear cell	CL:0000842	89.84	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	89.62	gold quality
cerebellar vermis	UBERON:0004720	89.51	gold quality
cervix squamous epithelium	UBERON:0006922	89.29	gold quality
leukocyte	CL:0000738	89.15	gold quality
kidney epithelium	UBERON:0004819	89.14	gold quality
cardia of stomach	UBERON:0001162	88.86	gold quality
superior vestibular nucleus	UBERON:0007227	88.69	gold quality

Single-cell (SCXA)

Detected in 33 experiment(s), a significant marker in 30.

Experiment	Marker?	Max mean expression
E-MTAB-8498	yes	5291.13
E-CURD-89	yes	4739.43
E-MTAB-7381	yes	4128.09
E-GEOD-75688	yes	3724.63
E-ANND-2	yes	3285.45
E-MTAB-8142	yes	3177.66
E-HCAD-25	yes	2828.81
E-GEOD-84465	yes	2814.30
E-GEOD-135922	yes	1885.30
E-HCAD-15	yes	1814.18
E-MTAB-9841	yes	1690.11
E-HCAD-1	yes	1689.09
E-MTAB-6678	yes	1530.20
E-CURD-122	yes	1485.95
E-CURD-120	yes	1313.68

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): NFKB1, NFKB, NFKBIA, PPARG, RELA, SP1, SP3, SSRP1

miRNA regulators (miRDB)

79 targeting CD83, 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-513A-5P	100.00	69.77	2465
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-223-3P	99.99	70.14	1140
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-1229-3P	99.97	66.49	906
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-493-5P	99.96	72.47	2382
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-6845-3P	99.94	66.88	1439
HSA-MIR-4648	99.91	67.00	710
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-LET-7A-2-3P	99.87	70.53	1921
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-30A-3P	99.87	69.74	2928
HSA-MIR-30D-3P	99.87	69.92	2917
HSA-MIR-30E-3P	99.87	69.68	2942
HSA-LET-7G-3P	99.85	70.43	1929
HSA-MIR-629-3P	99.85	67.99	1875
HSA-MIR-6844	99.82	70.69	2423
HSA-MIR-4307	99.82	70.45	3374
HSA-MIR-520F-3P	99.82	71.32	1216
HSA-MIR-4659A-3P	99.80	72.62	4248
HSA-MIR-4659B-3P	99.80	72.62	4248
HSA-MIR-4713-5P	99.78	67.80	1794
HSA-MIR-3156-3P	99.76	66.72	939
HSA-MIR-378G	99.71	64.90	1106
HSA-MIR-377-5P	99.70	65.28	712

Literature-anchored findings (GeneRIF, showing 40)

• the soluble extracellular CD83 domain inhibits DC-mediated T-cell proliferation, representing the first report describing a functional role for CD83. (PMID:12072358)
• cloning and characterization of the promoter region of the human CD83 gene (PMID:12182451)
• Increased expression of DC-SIGN+IL-12+IL-18+ and CD83+IL-12-IL-18- dendritic cell populations in the colonic mucosa of patients with Crohn’s disease (PMID:12594843)
• induction of the CD83 promoter by LMP1 of Epstein-barr virus is mediated by the activation of NF-kappaB signal pathway in B cells (PMID:12857898)
• 20% of chronic lymphocytic leukemia & 5/7 mantle-cell lymphoma patients have significantly elevated levels of soluble CD83. sCD83 may have an immunoregulatory role in vivo & functional significance in hematological malignancies, like CLL and MCL. (PMID:14687618)
• infected mature monocyte-derived dendritic cells lose surface CD83 while maintaining intracellular protein expression in cytomegalovirus infection. (PMID:14962896)
• monocytes, macrophages and immature DCs contain preformed intracellular CD83, and its rapid surface expression upon activation is post-translationally regulated in a process involving glycosylation (PMID:15320871)
• combined treatment of phosphatidic acid and tumor necrosis factor-alpha induce expression of CD83 in KG1 cells. (PMID:15454113)
• analysis of monomeric and dimeric isoforms of CD83 (PMID:15721284)
• Putative soluble forms of CD83 proteins are characterized by a partial deletion of the extracellular and transmembrane domains; the smallest CD83 splice product shows a strong inhibitory effect on T cell proliferation in mixed leukocyte reactions. (PMID:15905506)
• Results suggest the importance of tumor-infiltrating CD83(+) dendritic cells as a useful prognostic factor for patients with gallbladder carcinoma. (PMID:16012714)
• the HuR-CRM1 axis affects the nucleocytoplasmic translocation of CD83 mRNA under regular physiological conditions (PMID:16484227)
• the signal sequences in APRIL that mediate its intracellular trafficking and provide evidence that this protein ligand of HuR is an important player in the post-transcriptional regulation of CD83 expression (PMID:17178712)
• The mature dentritic cells express CD83 and high CD40/80/86, whereas the immature cells express CD1a and low CD40/80/86 (PMID:17197902)
• HSV-1 induces CD83 degradation in mature dendritic cells with immediate-early kinetics via the cellular proteasome (PMID:17428858)
• The abundance of CD83+ plasmacytoid dendritic cells (DCs) in perivascular areas and the overexpression of CCL19 and CCL21 in perivascular cellular foci suggest plasmacytoid DCs are central to the muscle inflammation in juvenile dermatomyositis. (PMID:17469160)
• CD83 antigen was identified as a useful tumor marker for the diagnosis of pediatric large cell lymphoma. (PMID:17535098)
• mRNA can be measured by real-time polymerase chain reaction to determine removal of dendritic cells in whole blood (PMID:17561858)
• membrane expression of the dendritic cell maturation marker CD83 on tumor cells from lung cancer patients (PMID:17628801)
• CD83 gene polymorphisms increase susceptibility to human invasive cervical cancer (PMID:18056445)
• In rheumatoid arthritis patients, the number of CD304(+) plasmacytoid DCs (pDCs) exceeded that of CD1c(+) myeloid DCs (mDCs), with the majority of infiltrating DCs being CD83(-) or DC-LAMP(-). (PMID:18292234)
• Data suggest that in systemic lupus erythematosus, the increased number of plasmacytoid dendritic cells (DCs) supports a pathogenic role for these cells, and decreased myeloid DC and CD83 expression may explain susceptibility to infections. (PMID:18625638)
• GM-CSF can both synergize with TNFalpha in the case of expression of IL1-RA and antagonize in the case of CD83. (PMID:18755511)
• The CK2 alpha’ phosphorylates APRIL and therefore is responsible for the regulation of the nucleocytoplasmic translocation of CD83 mRNA. (PMID:19130553)
• sCD83 release may play a regulatory role in CLL progression. (PMID:19195701)
• Overexpression of CD83 in transgenic mice suppresses the humoral response to both T cell-independent and T-cell dependent model antigens in a dose-dependent manner. (PMID:19234177)
• Data show high expression of CD86 and CD11C, moderate expression of CD1a and CD123, low levels of CD83 on dendritic cells after induction by GM-CSF and IL-4. (PMID:19257981)
• No CD83-positive Langerhans cells were detected in any epidermodysplasia verruciformis patients or normal controls. (PMID:19317050)
• CD1a and CD83 may be involved in pain generation and the pathogenesis of endometriosis (PMID:19321495)
• Data show that pollen grains triggered the production of IL-8, TNF-alpha, IL-6 and strongly upregulated the membrane expression of CD80, CD86, CD83, HLA-DR and caused only a slight increase in the expression of CD40. (PMID:20118277)
• Structure identification of recombinant CD83 mutant variant as a potent therapeutic protein is reported. (PMID:20566323)
• sCD83 is capable of attenuating dendritic cell maturation and function, and inducing donor-specific allograft tolerance, in the absence of toxicity. (PMID:20861805)
• Human solublee CD83 alone is capable of inducing kidney allograft tolerance in kidney transplantation in mice. (PMID:21076370)
• Suggest that impaired immune function, absence of CD83-positive mature and activated dendritic cells in cancer nodules may have a role in the pathogenesis of thyroid papillary carcinoma. (PMID:21469977)
• CD83-stimulated monocytes suppress T-cell immune responses through production of prostaglandin E2 (PMID:22065790)
• Results do not suggest that the common genetic variation of CD83 is related to cervical or vulvar cancers. The association between tagSNP rs853360 and risk of cervical SCC is likely to be due to chance. (PMID:22134374)
• Data indicate that the frequencies of CD11c, CD11c/CD86, HLA-DR/CD86, CD83 and CD80 were significantly high, while CD11c/HLA-DR was low in Hepatitis E infection. (PMID:23246582)
• We identified IRF-1, IRF-2, IRF-5, p50, p65, and cRel to be involved in regulating maturation-specific CD83 expression in DCs. (PMID:23339870)
• IDO and CD83 are expressed differently in human epidermal Langerhans cells (PMID:24268989)
• the presence of CD83 in mDC membranes enhances T lymphocyte proliferation by boosting calcium release from intracellular stores in these cells. (PMID:24436459)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Cd83	ENSMUSG00000015396
rattus_norvegicus	Cd83	ENSRNOG00000018092

Protein

Protein identifiers

CD83 antigen — Q01151 (reviewed: Q01151)

Alternative names: B-cell activation protein, Cell surface protein HB15

All UniProt accessions (2): Q01151, A0A087WX61

UniProt curated annotations — full annotation on UniProt →

Function. Transmembrane glycoprotein predominantly found on the surface of many immune cells including dendritic cells or lymphocytes that plays various roles in immune response regulation. Plays an essential role in CD4(+) T-selection, differentiation and stability by regulating the activity of the major E3 ubiquitin ligase responsible for controlling MHCII trafficking MARCHF8. Also inhibits MARCHF1 association with MHCII or CD86 to prevent their ubiquitination and subsequent degradation. In addition, acts as an important modulator of protective responses against acute infections.

Subunit / interactions. Monomer. Homodimer. Homotrimer. Interacts with MARCHF1; this interaction antagonizes MARCHF1-mediated MHC II and CD86 down-regulation.

Subcellular location. Membrane.

Tissue specificity. Expressed by activated lymphocytes, Langerhans cells and activatd dendritic cells.

Post-translational modifications. Glycosylated when expressed on activated dendritic cells.

Induction. Strongly up-regulated together with costimulatory molecules such as CD80 and CD86 during dendritic cell maturation.

RefSeq proteins (3): NP_001035370, NP_001238830, NP_004224* (*=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

Pfam: PF07686

UniProt features (21 total): strand 7, glycosylation site 3, topological domain 2, signal peptide 1, chain 1, disulfide bond 1, sequence variant 1, helix 1, transmembrane region 1, domain 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

4 structures.

PDB	Method	Resolution (Å)
5MIX	X-RAY DIFFRACTION	1.7
5MJ1	X-RAY DIFFRACTION	1.8
5MJ2	X-RAY DIFFRACTION	1.98
5MJ0	X-RAY DIFFRACTION	3.2

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q01151-F1	72.45	0.34

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 (1): 35–107

Glycosylation sites (3): 117, 79, 96

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 488 (showing top): GSE45365_NK_CELL_VS_BCELL_UP, GOBP_REGULATION_OF_CELL_ACTIVATION, WALLACE_PROSTATE_CANCER_RACE_UP, GOBP_REGULATION_OF_ALPHA_BETA_T_CELL_ACTIVATION, GOBP_POSITIVE_REGULATION_OF_HEMOPOIESIS, MODULE_64, GOBP_ALPHA_BETA_T_CELL_DIFFERENTIATION, GOCC_CELL_SURFACE, MORI_IMMATURE_B_LYMPHOCYTE_UP, GOBP_POSITIVE_REGULATION_OF_CYTOKINE_PRODUCTION, RIZKI_TUMOR_INVASIVENESS_3D_DN, WIELAND_UP_BY_HBV_INFECTION, NFKB_Q6, GOBP_POSITIVE_REGULATION_OF_CELL_ADHESION, HINATA_NFKB_TARGETS_KERATINOCYTE_UP

GO Biological Process (9): defense response (GO:0006952), humoral immune response (GO:0006959), signal transduction (GO:0007165), negative regulation of interleukin-4 production (GO:0032713), positive regulation of interleukin-10 production (GO:0032733), positive regulation of interleukin-2 production (GO:0032743), CD4-positive, alpha-beta T cell differentiation (GO:0043367), positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372), immune system process (GO:0002376)

GO Molecular Function (1): protein binding (GO:0005515)

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

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
positive regulation of cytokine production	2
response to stress	1
immune response	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
negative regulation of cytokine production	1
interleukin-4 production	1
regulation of interleukin-4 production	1
interleukin-10 production	1
regulation of interleukin-10 production	1
interleukin-2 production	1
regulation of interleukin-2 production	1
CD4-positive, alpha-beta T cell activation	1
alpha-beta T cell differentiation	1
CD4-positive, alpha-beta T cell differentiation	1
regulation of CD4-positive, alpha-beta T cell differentiation	1
positive regulation of alpha-beta T cell differentiation	1
positive regulation of CD4-positive, alpha-beta T cell activation	1
biological_process	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

1912 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CD83	CD1B	P29016	959
CD83	CD40	P25942	942
CD83	CD1C	P29017	937
CD83	CD1E	P15812	915
CD83	CD1D	P15813	914
CD83	CD86	P42081	911
CD83	CD80	P33681	898
CD83	CD1A	P06126	879
CD83	TNF	P01375	864
CD83	CCR7	P32248	856
CD83	IL10	P22301	821
CD83	IL4	P05112	791
CD83	CSF2	P04141	787
CD83	ITGAX	P20702	780
CD83	CD209	Q9NNX6	776

IntAct

11 interactions, top by confidence:

A	B	Type	Score
CD83	FATE1	psi-mi:“MI:0915”(physical association)	0.560
CD83	BTAF1	psi-mi:“MI:0914”(association)	0.530
CD83	sepZ	psi-mi:“MI:0915”(physical association)	0.370
CD83	EIF4E	psi-mi:“MI:0915”(physical association)	0.370
CD83	ABCD4	psi-mi:“MI:0914”(association)	0.350
CD83	TNFRSF10B	psi-mi:“MI:0914”(association)	0.350
MFSD14A	FAM171A2	psi-mi:“MI:0914”(association)	0.350
CD83	FATE1	psi-mi:“MI:0915”(physical association)	0.000
	CD83	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (105): CD83 (Synthetic Growth Defect), SLC30A1 (Affinity Capture-MS), NDST1 (Affinity Capture-MS), SLC7A2 (Affinity Capture-MS), UGCG (Affinity Capture-MS), ATP7A (Affinity Capture-MS), C1orf112 (Affinity Capture-MS), RADIL (Affinity Capture-MS), CERS5 (Affinity Capture-MS), BMPR2 (Affinity Capture-MS), USP8 (Affinity Capture-MS), PTPRD (Affinity Capture-MS), XPO6 (Affinity Capture-MS), ATP2B2 (Affinity Capture-MS), RHOBTB3 (Affinity Capture-MS)

ESM2 similar proteins: A0JM41, A2VD98, A6QQC6, A8MVW5, B0CLX4, B6ZK76, B6ZK77, O60487, O70255, O88324, O88775, O95976, P01832, P03228, P06907, P08920, P08921, P09619, P0C6B7, P0C6N0, P0CW72, P10522, P20938, P21995, P25189, P27573, P37301, P37998, P59823, P59824, P86176, Q01151, Q4VAH7, Q5EAB0, Q5R804, Q640U3, Q6PCB8, Q6WEB5, Q80UL9, Q86XK7

Diamond homologs: O88324, Q01151

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
NfKb-p65/p50	“up-regulates quantity by expression”	CD83	“transcriptional regulation”
RNF128	“down-regulates quantity by destabilization”	CD83	polyubiquitination

Disease & clinical

Cancer significance

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	1
Uncertain significance	33
Likely benign	1
Benign	1

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
1527223	GRCh37/hg19 6p24.1-22.3(chr6:12924014-15975708)	Pathogenic
1808641	GRCh37/hg19 6p23-22.3(chr6:13891547-15718444)x1	Likely pathogenic

SpliceAI

403 predictions. Top by Δscore:

Variant	Effect	Δscore
6:14133751:CTTGT:C	donor_gain	1.0000
6:14133752:TTGT:T	donor_gain	1.0000
6:14133754:GT:G	donor_gain	1.0000
6:14133754:GTGTA:G	donor_loss	1.0000
6:14133756:G:GG	donor_gain	1.0000
6:14133756:GTAA:G	donor_loss	1.0000
6:14133757:T:G	donor_loss	1.0000
6:14133758:A:AG	donor_loss	1.0000
6:14133759:AG:A	donor_loss	1.0000
6:14135107:GAA:G	acceptor_gain	1.0000
6:14117844:C:G	donor_gain	0.9900
6:14117845:TGCGG:T	donor_loss	0.9900
6:14117846:GCG:G	donor_gain	0.9900
6:14117849:G:GG	donor_gain	0.9900
6:14117849:GTAGG:G	donor_loss	0.9900
6:14117850:T:A	donor_loss	0.9900
6:14117948:A:AG	acceptor_gain	0.9900
6:14117949:G:GA	acceptor_gain	0.9900
6:14118066:G:GG	donor_gain	0.9900
6:14133645:A:AG	acceptor_gain	0.9900
6:14133645:AAAG:A	acceptor_gain	0.9900
6:14133648:GGAT:G	acceptor_gain	0.9900
6:14133753:TGT:T	donor_gain	0.9900
6:14133754:GTG:G	donor_gain	0.9900
6:14133755:TGT:T	donor_gain	0.9900
6:14133756:GTA:G	donor_gain	0.9900
6:14135106:A:AG	acceptor_gain	0.9900
6:14135107:G:GG	acceptor_gain	0.9900
6:14135107:GA:G	acceptor_gain	0.9900
6:14135107:GAAGT:G	acceptor_gain	0.9900

AlphaMissense

1324 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:14118059:G:C	W49C	0.989
6:14118059:G:T	W49C	0.989
6:14131679:T:G	Y105D	0.986
6:14118010:T:C	L33S	0.984
6:14131685:T:A	C107S	0.981
6:14131686:G:C	C107S	0.981
6:14118057:T:A	W49R	0.978
6:14118057:T:C	W49R	0.978
6:14131685:T:C	C107R	0.977
6:14131737:T:C	L124S	0.975
6:14135111:T:C	F165L	0.970
6:14135113:T:A	F165L	0.970
6:14135113:T:G	F165L	0.970
6:14131687:C:G	C107W	0.967
6:14118015:T:C	C35R	0.963
6:14131647:T:C	I94T	0.961
6:14131679:T:A	Y105N	0.961
6:14118015:T:A	C35S	0.960
6:14118016:G:C	C35S	0.960
6:14133739:T:A	L158H	0.956
6:14131673:G:T	G103W	0.955
6:14118017:C:G	C35W	0.953
6:14131680:A:C	Y105S	0.953
6:14133739:T:C	L158P	0.952
6:14131680:A:G	Y105C	0.951
6:14118016:G:A	C35Y	0.948
6:14131686:G:A	C107Y	0.948
6:14131679:T:C	Y105H	0.944
6:14118010:T:G	L33W	0.939
6:14133726:T:C	F154L	0.938

dbSNP variants (sampled 300 via entrez): RS1000044404 (6:14118537 G>C), RS1000057970 (6:14124791 G>A), RS1000100874 (6:14124032 C>A,G), RS1000109928 (6:14125048 G>A,C,T), RS1000395509 (6:14118326 A>G), RS1000411114 (6:14136428 C>A,G,T), RS1000473092 (6:14124469 C>A,G,T), RS1000797815 (6:14125957 A>G,T), RS1000987863 (6:14136062 G>A), RS1001001082 (6:14119639 C>T), RS1001060611 (6:14126272 C>A), RS1001113092 (6:14126473 G>A), RS1001127342 (6:14135742 T>G), RS1001170359 (6:14118952 A>G), RS1001177478 (6:14125372 C>T)

Disease associations

OMIM: gene MIM:604534 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

13 associations (top):

Study	Trait	p-value
GCST001454_2	Rheumatoid arthritis	2.000000e-08
GCST001762_429	Obesity-related traits	4.000000e-06
GCST002318_3	Rheumatoid arthritis	3.000000e-06
GCST002318_65	Rheumatoid arthritis	3.000000e-07
GCST006035_2	Breast cancer and/or colorectal cancer	3.000000e-06
GCST006959_110	Rheumatoid arthritis	2.000000e-07
GCST006959_99	Rheumatoid arthritis	7.000000e-06
GCST007576_61	Chronotype	1.000000e-09
GCST009305_13	California verbal learning test score	3.000000e-07
GCST012081_2	Response to tofacitinib treatment (herpes zoster)	2.000000e-08
GCST012082_2	Response to tofacitinib treatment (herpes zoster)(time to event)	2.000000e-10
GCST012083_1	Response to tofacitinib treatment in psoriasis (herpes zoster)	6.000000e-08
GCST012085_1	Response to tofacitinib treatment in psoriasis (herpes zoster)(time to event)	1.000000e-10

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0008328	chronotype measurement
EFO:0004874	memory performance

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Lipopolysaccharides	increases expression, decreases reaction, affects reaction, affects expression, affects response to substance (+1 more)	7
sodium arsenite	increases expression, decreases expression, affects cotreatment, increases abundance	5
nickel sulfate	decreases reaction, increases expression, increases reaction	5
Valproic Acid	affects expression, increases expression	5
lipopolysaccharide, E coli O55-B5	increases expression, increases reaction	4
Benzo(a)pyrene	decreases reaction, increases expression	4
Estradiol	affects expression, affects binding, increases expression	3
Nickel	increases expression	3
Silicon Dioxide	increases expression	3
bisphenol A	decreases methylation, affects cotreatment, increases expression	2
Ribomunyl	increases expression, increases reaction	2
Arsenic	decreases expression, affects cotreatment, increases abundance, increases expression	2
Cisplatin	affects cotreatment, increases expression	2
Dexamethasone	decreases reaction, increases expression, affects cotreatment	2
Dinitrochlorobenzene	increases expression	2
Methotrexate	affects cotreatment, decreases response to substance, decreases expression	2
Ozone	affects cotreatment, increases oxidation, increases abundance, increases expression	2
Tobacco Smoke Pollution	increases expression	2
Tretinoin	increases expression, increases reaction	2
Aflatoxin B1	increases expression	2
Antirheumatic Agents	increases expression, affects cotreatment, decreases response to substance	2
Cadmium Chloride	increases expression	2
Copper Sulfate	increases expression	2
Particulate Matter	increases expression, decreases reaction	2
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
GSK-J4	decreases expression	1
Glupearl 19S	increases expression	1
bisphenol F	decreases methylation	1
helenalin	decreases reaction, increases expression	1
2-anisidine	decreases expression	1

Cellosaurus cell lines

2 cell lines: 1 cancer cell line, 1 spontaneously immortalized cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B7WM	Abcam Raji CD83 KO	Cancer cell line	Male
CVCL_C5ES	L929/CD83	Spontaneously immortalized cell line	Male

Clinical trials (associated diseases)

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