CD200

Summary

CD200 (CD200 molecule, HGNC:7203) is a protein-coding gene on chromosome 3q13.2, encoding OX-2 membrane glycoprotein (P41217). Costimulates T-cell proliferation.

This gene encodes a type I membrane glycoprotein containing two extracellular immunoglobulin domains, a transmembrane and a cytoplasmic domain. This gene is expressed by various cell types, including B cells, a subset of T cells, thymocytes, endothelial cells, and neurons. The encoded protein plays an important role in immunosuppression and regulation of anti-tumor activity. Alternative splicing results in multiple transcript variants encoding different isoforms.

Source: NCBI Gene 4345 — RefSeq curated summary.

At a glance

• GWAS associations: 10
• Clinical variants (ClinVar): 31 total
• Druggable target: yes
• MANE Select transcript: NM_005944

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:7203
Approved symbol	CD200
Name	CD200 molecule
Location	3q13.2
Locus type	gene with protein product
Status	Approved
Aliases	MRC, OX-2
Ensembl gene	ENSG00000091972
Ensembl biotype	protein_coding
OMIM	155970
Entrez	4345

Gene structure

Transcript identifiers

Ensembl transcripts: 19 — 10 protein_coding, 8 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000315711, ENST00000383681, ENST00000473539, ENST00000478595, ENST00000498096, ENST00000606471, ENST00000607516, ENST00000607597, ENST00000714187, ENST00000714188, ENST00000714189, ENST00000714190, ENST00000714205, ENST00000714207, ENST00000714208, ENST00000714209, ENST00000714210, ENST00000714211, ENST00000937589

RefSeq mRNA: 10 — MANE Select: NM_005944 NM_001004196, NM_001318826, NM_001318828, NM_001318830, NM_001365851, NM_001365852, NM_001365853, NM_001365854, NM_001365855, NM_005944

CCDS: CCDS2965, CCDS33818, CCDS82819

Canonical transcript exons

ENST00000315711 — 6 exons

Exon	Start	End
ENSE00003631408	112344962	112345288
ENSE00004023123	112340902	112340983
ENSE00004023125	112361543	112362812
ENSE00004023128	112347558	112347830
ENSE00004023130	112349712	112349819
ENSE00004023201	112333156	112333224

Expression profiles

Bgee: expression breadth ubiquitous, 273 present calls, max score 97.82.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 25.3329 / max 1431.1237, expressed in 975 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
37925	23.8830	970
37924	1.4016	518
37923	0.0483	18

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cortical plate	UBERON:0005343	97.82	gold quality
frontal pole	UBERON:0002795	97.13	gold quality
ganglionic eminence	UBERON:0004023	96.95	gold quality
Brodmann (1909) area 10	UBERON:0013541	96.28	gold quality
prefrontal cortex	UBERON:0000451	96.13	gold quality
middle frontal gyrus	UBERON:0002702	95.35	gold quality
hypothalamus	UBERON:0001898	95.28	gold quality
orbitofrontal cortex	UBERON:0004167	95.17	gold quality
Brodmann (1909) area 9	UBERON:0013540	95.15	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	95.13	gold quality
parietal pleura	UBERON:0002400	94.92	gold quality
Brodmann (1909) area 46	UBERON:0006483	94.84	gold quality
Brodmann (1909) area 23	UBERON:0013554	94.51	gold quality
middle temporal gyrus	UBERON:0002771	94.39	gold quality
frontal cortex	UBERON:0001870	94.36	gold quality
right uterine tube	UBERON:0001302	94.35	gold quality
neocortex	UBERON:0001950	94.15	gold quality
nucleus accumbens	UBERON:0001882	94.13	gold quality
cerebral cortex	UBERON:0000956	93.90	gold quality
cingulate cortex	UBERON:0003027	93.70	gold quality
anterior cingulate cortex	UBERON:0009835	93.67	gold quality
superior frontal gyrus	UBERON:0002661	93.48	gold quality
islet of Langerhans	UBERON:0000006	93.47	gold quality
telencephalon	UBERON:0001893	93.30	gold quality
forebrain	UBERON:0001890	93.23	gold quality
pleura	UBERON:0000977	93.20	gold quality
paraflocculus	UBERON:0005351	93.17	gold quality
germinal epithelium of ovary	UBERON:0001304	93.11	gold quality
caudate nucleus	UBERON:0001873	93.06	gold quality
lateral nuclear group of thalamus	UBERON:0002736	93.02	gold quality

Single-cell (SCXA)

Detected in 8 experiment(s), a significant marker in 7.

Experiment	Marker?	Max mean expression
E-MTAB-7381	yes	538.82
E-MTAB-8142	yes	51.37
E-CURD-112	yes	18.61
E-GEOD-93593	yes	13.72
E-ANND-3	yes	6.81
E-GEOD-84465	yes	6.74
E-MTAB-7249	yes	3.92
E-HCAD-29	no	1959.97

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CEBPB, IRF1, NFKB, STAT1

miRNA regulators (miRDB)

86 targeting CD200, 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-5011-5P	100.00	83.46	5820
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-4713-3P	100.00	65.92	505
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-3682-5P	99.93	67.97	1163
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-130B-5P	99.83	68.50	1888
HSA-MIR-204-5P	99.79	71.62	2439
HSA-MIR-211-5P	99.79	71.65	2440
HSA-MIR-6817-3P	99.79	68.35	2126
HSA-MIR-26A-5P	99.78	73.52	2303
HSA-MIR-26B-5P	99.78	73.51	2305

Literature-anchored findings (GeneRIF, showing 40)

• Evidence for an immunoregulatory role of OX2 with its counter ligand (OX2L) in the regulation of transplant rejection, fetal loss, autoimmunity and tumor growth. (PMID:11726033)
• panel of mAbs to mouse and human CD200Fc to compare the rank activities of antibodies for binding (flow cytometric analysis [FACS] or enzyme-linked immunoadsorbent assay [ELISA]). (PMID:15699757)
• revealed a 169 bp region responsible for constitutive expression of CD200; positive regulatory domains were identified in the core promoter; and documented evidence for C/EBPbeta as being important in transcriptional regulation of CD200 (PMID:15955564)
• Human CD200 is recognized by human CD200R; the activation of basophils is down-regulated by these CD200 proteins (PMID:16177086)
• Reactions with CD200 receptor modulate immunomodulation for prevention of undesired immune responses of the skin. (PMID:16354172)
• Here we describe CD200 co-expression with stem cell markers found on prostate, breast, brain, and colon cancers. (PMID:17964286)
• mutation of N-RAS or B-RAF, signature genetic lesions present in most MMs, potently induced the expression of cell-surface CD200, a repressor of DC function. (PMID:18008004)
• Review highlights the close correlation between CD200-CD200 receptor (CD200R), microglia activation, and Parkinson’s disease. (PMID:18040859)
• melanoma, ccRCC and ovarian tumor cells can express CD200, thereby potentially suppressing anti-tumor immune responses. CD200 blockade with an antagonistic antibody may permit an effective anti-tumor immune response in these solid tumor types. (PMID:18060403)
• Taken together, these data suggest that CD200 is a potential therapeutic target and prognostic factor for a large array of malignancies. (PMID:18060862)
• The CD200-CD200R pathway seems of critical relevance for macrophage-mediated damage in autoimmune inflammation of the CNS. (PMID:18164423)
• CD200 blockade was further shown to stimulate antigen-specific T cell responses towards the CLL-associated antigen fibromodulin (PMID:18838168)
• Identification of an expressed truncated form of CD200, CD200tr, which is a physiologic antagonist of CD200-induced suppression. (PMID:18946351)
• lower % CD200(+) cell number may also reflect hitherto unappreciated paternal factors bearing on reproductive success (PMID:19086995)
• CD200-mediated immune suppression may occur not only via neuron-microglia interactions, but also via glia-glia interactions, especially in inflammatory conditions in which an immune-suppressive environment needs to be restored. (PMID:19151626)
• all B-CLL cells were CD200+ both in lymph nodes and in BM while all MCL cells were negative. Adding CD200 in routine panels could be of diagnostic utility in excluding MCL diagnosis (PMID:19230971)
• IFN-gamma and TNF-alpha induce CD200 expression through a 5’ upstream enhancer and that NF-kappaB, STAT1 and IRF-1 play pivotal roles in this process. (PMID:19386363)
• CD200 is a stem cell surface marker in human hair follicle bulge (PMID:20050020)
• We show that CD200R expression was specifically induced on human in vitro polarized macrophages of the alternatively activated M2a subtype, generated by incubation with IL-4 or IL-13. (PMID:20375636)
• effect of CD200 blockade in vitro on a generation of CTL responses against a poorly immunogenic CD200+ lymphoma cell line and fresh cells obtained from CLL patients (PMID:20442224)
• CD200 may be a useful immunophenotypic marker in the evaluation of B cell-derived neoplasms. (PMID:20959655)
• CD200 is a useful immunophenotypic marker of angioimmunoblastic T-cell lymphoma. (PMID:21164290)
• Data show that high levels of KRT15 expression correlated with a stem cell phenotype and found that KRT15hiITGA6hi stem cells were preserved in bald scalp, while distinct populations of CD200hiITGA6hi and CD34hi cells were markedly diminished. (PMID:21206086)
• Evaluating CD200 expression has a great impact on accurate B-chronic lymphoproliferative disorders (BCLPDs) diagnosis and could be added to the BCLPD routine panels. (PMID:22064604)
• a novel role for CD200-CD200R interaction in inhibiting tumor formation and metastasis (PMID:22319630)
• The capacity of 1alpha,25-dihydroxyvitamin D3 to induce CD200 expression by peripheral and respiratory tract T cells identifies an additional pathway via which vitamin D can restrain inflammation in the airways to maintain respiratory health. (PMID:22334534)
• The role of the CD200-CD200R axis in bone marrow-derived mesenchymal stem cell mediated immunosuppression was studied using THP-1 human macrophages. (PMID:22363701)
• Increased CD200 expression in acute myeloid leukemia is linked with an increased frequency of FoxP3+ regulatory T cells. (PMID:22430636)
• Decreased expression of CD200 on CD1c+ myeloid dendritic cells was observed in the third trimester of normal pregnancy suggesting that tolerogenic properties of dendritic cells decrease before delivery; higher expression was observed during preeclampsia (PMID:22462561)
• these results indicate a role of CD200R:CD200 in T cell responses to helminths which has diagnostic and prognostic relevance as a marker of infection for chronic schistosomiasis in mouse and man. (PMID:22496920)
• Mesenchymal stromal cells are able to modulate the expression of both CD200 and CD200R on some T-cells. (PMID:22575528)
• CD200 and CD200R1 expression and function are abnormal in systemic lupus erythematosus (PMID:22621248)
• Findings suggest sCD200 as a novel prognostic marker and therapeutic target for chronic lymphocytic leukemia (CLL). (PMID:22875025)
• We conclude that CD200 is a practical and useful marker for the diagnosis of primary mediastinal large B cell lymphoma. (PMID:22899296)
• The expression of CD200 as well as B7-H4 co-stimulatory molecules on CD14(+) cells were significantly higher in cord blood when compared with peripheral blood. (PMID:23066977)
• data present a significant role for CD200 in suppressing anti-tumor immune response through stimulation of regulatory mechanisms in acute myeloid leukemia patients and suggest that CD200 may have a prognostic value in this malignanc (PMID:23179394)
• This study analysis revealed up-regulation of CD14, CD18, CD45, TLR2, TLR4, CD74, C1q, C3, CCL2, and down-regulation of CD36, CX3CR1, CX3CL1 and CD200 in postmenopausal women. (PMID:23206327)
• Elevated amniotic fluid CD200 levels in the presence of funisitis suggest the involvement of negative regulatory mechanisms of innate immunity. (PMID:23489112)
• blocking CD200 on tumor cells may have opposite effects on tumor proliferation depending on the “affinity” of the macrophages to form the CD200-CD200R-complex with tumor cells. (PMID:23541619)
• in cutaneous squamous cell carcinoma, CD200 expression on local blood vessels may promote tumor progression by suppressing CD200R myeloid cells during diapedesis (PMID:23560298)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	si:dkey-31e10.1	ENSDARG00000067992
danio_rerio	si:dkey-31e10.5	ENSDARG00000070502
mus_musculus	Cd200	ENSMUSG00000022661
rattus_norvegicus	Cd200	ENSRNOG00000002141
drosophila_melanogaster	Fas3	FBGN0000636

Paralogs (14): PVR (ENSG00000073008), CADM4 (ENSG00000105767), CRTAM (ENSG00000109943), NECTIN1 (ENSG00000110400), NECTIN2 (ENSG00000130202), NECTIN4 (ENSG00000143217), CD226 (ENSG00000150637), CADM3 (ENSG00000162706), SMAGP (ENSG00000170545), CADM2 (ENSG00000175161), NECTIN3 (ENSG00000177707), TIGIT (ENSG00000181847), CADM1 (ENSG00000182985), NCR3 (ENSG00000204475)

Protein

Protein identifiers

OX-2 membrane glycoprotein — P41217 (reviewed: P41217)

All UniProt accessions (12): P41217, A0AAQ5BHK5, A0AAQ5BHN9, A0AAQ5BHP4, A0AAQ5BHP5, A0AAQ5BHQ1, A0AAQ5BHQ6, F8W7G1, F8WC99, F8WEX3, U3KQG5, U3KQQ2

UniProt curated annotations — full annotation on UniProt →

Function. Costimulates T-cell proliferation. May regulate myeloid cell activity in a variety of tissues.

Subunit / interactions. CD200 and CD200R1 interact via their respective N-terminal Ig-like domains.

Subcellular location. Cell membrane.

Isoforms (3)

UniProt ID	Names	Canonical?
P41217-1	1	yes
P41217-2	2
P41217-3	3

RefSeq proteins (10): NP_001004196, NP_001305755, NP_001305757, NP_001305759, NP_001352780, NP_001352781, NP_001352782, NP_001352783, NP_001352784, NP_005935* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003599	Ig_sub	Domain
IPR007110	Ig-like_dom	Domain
IPR013106	Ig_V-set	Domain
IPR013151	Immunoglobulin_dom	Domain
IPR013783	Ig-like_fold	Homologous_superfamily
IPR033321	CD200_Ig_V_dom	Domain
IPR036179	Ig-like_dom_sf	Homologous_superfamily
IPR047164	OX2G-like	Family

Pfam: PF00047

UniProt features (23 total): glycosylation site 6, disulfide bond 3, sequence variant 3, splice variant 2, topological domain 2, sequence conflict 2, domain 2, signal peptide 1, chain 1, transmembrane region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P41217-F1	86.39	0.61

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Disulfide bonds (3): 51–121, 118–136, 160–214

Glycosylation sites (6): 157, 181, 190, 95, 103, 110

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: 452 (showing top): TAKEDA_TARGETS_OF_NUP98_HOXA9_FUSION_6HR_DN, GOBP_REGULATION_OF_CELL_ACTIVATION, VERHAAK_AML_WITH_NPM1_MUTATED_DN, GOBP_POSITIVE_REGULATION_OF_MACROPHAGE_ACTIVATION, GOBP_MYELOID_LEUKOCYTE_MIGRATION, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, GOBP_INFLAMMATORY_RESPONSE, GOBP_RESPONSE_TO_PEPTIDE, GOBP_CELLULAR_RESPONSE_TO_LIPID, GOBP_CELLULAR_RESPONSE_TO_BIOTIC_STIMULUS, MODULE_418, GOBP_CANONICAL_NF_KAPPAB_SIGNAL_TRANSDUCTION, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_REGULATION_OF_MACROPHAGE_ACTIVATION

GO Biological Process (18): negative regulation of leukocyte activation (GO:0002695), negative regulation of cell population proliferation (GO:0008285), negative regulation of interleukin-6 production (GO:0032715), heterotypic cell-cell adhesion (GO:0034113), negative regulation of macrophage activation (GO:0043031), positive regulation of macrophage activation (GO:0043032), negative regulation of canonical NF-kappaB signal transduction (GO:0043124), positive regulation of transcription by RNA polymerase II (GO:0045944), regulation of immune response (GO:0050776), cellular response to lipopolysaccharide (GO:0071222), cellular response to type II interferon (GO:0071346), positive regulation of transforming growth factor beta production (GO:0071636), cell-cell adhesion (GO:0098609), regulation of neuroinflammatory response (GO:0150077), negative regulation of neuroinflammatory response (GO:0150079), negative regulation of matrix metallopeptidase secretion (GO:1904465), negative regulation of macrophage migration (GO:1905522), negative regulation of T cell migration (GO:2000405)

GO Molecular Function (4): protein binding involved in heterotypic cell-cell adhesion (GO:0086080), cell-cell adhesion mediator activity (GO:0098632), glycosylated region protein binding (GO:0140081), protein binding (GO:0005515)

GO Cellular Component (7): plasma membrane (GO:0005886), cell surface (GO:0009986), membrane (GO:0016020), axon (GO:0030424), neuron projection (GO:0043005), neuronal cell body (GO:0043025), cell body (GO:0044297)

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
cellular anatomical structure	3
cell-cell adhesion	2
macrophage activation	2
regulation of macrophage activation	2
neuroinflammatory response	2
negative regulation of immune system process	1
regulation of leukocyte activation	1
leukocyte activation	1
negative regulation of cell activation	1
cell population proliferation	1
regulation of cell population proliferation	1
negative regulation of cellular process	1
negative regulation of cytokine production	1
interleukin-6 production	1
regulation of interleukin-6 production	1
negative regulation of leukocyte activation	1
positive regulation of leukocyte activation	1
canonical NF-kappaB signal transduction	1
regulation of canonical NF-kappaB signal transduction	1
negative regulation of intracellular signal transduction	1
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
positive regulation of DNA-templated transcription	1
regulation of immune system process	1
immune response	1
regulation of response to stimulus	1
response to lipopolysaccharide	1
cellular response to molecule of bacterial origin	1
cellular response to lipid	1
cellular response to oxygen-containing compound	1
response to type II interferon	1
cellular response to cytokine stimulus	1
positive regulation of cytokine production	1
transforming growth factor beta production	1
regulation of transforming growth factor beta production	1
cell adhesion	1
regulation of inflammatory response	1
negative regulation of inflammatory response	1
regulation of neuroinflammatory response	1
negative regulation of protein secretion	1

Protein interactions and networks

STRING

1728 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CD200	CD200R1	Q8TD46	999
CD200	SIRPA	P78324	983
CD200	CX3CR1	P49238	974
CD200	PTPRC	P08575	936
CD200	CX3CL1	P78423	830
CD200	BTLA	Q7Z6A9	785
CD200	TREM2	Q9NZC2	776
CD200	CD47	Q08722	774
CD200	CD8A	P01732	702
CD200	CD19	P15391	693
CD200	PHLPP1	O60346	687
CD200	IL6	P05231	679
CD200	MME	P08473	674
CD200	FCGR3A	P08637	665
CD200	CD40	P25942	655

IntAct

13 interactions, top by confidence:

A	B	Type	Score
CD200R1	CD200	psi-mi:“MI:0915”(physical association)	0.710
CD200	CD200R1	psi-mi:“MI:0915”(physical association)	0.710
CD200R1	CD200	psi-mi:“MI:0407”(direct interaction)	0.710
CD200	MXRA5	psi-mi:“MI:0915”(physical association)	0.400
CD200	PAPLN	psi-mi:“MI:0915”(physical association)	0.400
HUS1	CD200	psi-mi:“MI:0915”(physical association)	0.370
MAPT	SHTN1	psi-mi:“MI:0914”(association)	0.350
CD200	ORC4	psi-mi:“MI:0914”(association)	0.350

BioGRID (8): CD200R1 (Reconstituted Complex), RAB35 (Affinity Capture-MS), RPS6KA4 (Affinity Capture-MS), ORC4 (Affinity Capture-MS), EMC7 (Affinity Capture-MS), CD200R1 (Reconstituted Complex), CD200 (Reconstituted Complex), HUS1 (Two-hybrid)

ESM2 similar proteins: A7TZE6, A7TZF0, A7TZF3, A7TZG1, A7TZG3, A7XUX6, A7XV04, A7XV07, A8MTB9, O54709, O54901, O70215, P08101, P0DTI4, P41217, P42070, P42081, Q00609, Q29983, Q29ZQ1, Q2YFS1, Q2YFS2, Q2YFS3, Q2YHT7, Q5RDA5, Q5RFR2, Q5UKY4, Q60513, Q61885, Q63203, Q63345, Q68D85, Q6XJV4, Q7Z6M3, Q8BTP3, Q92637, Q96KV6, Q9EP73, Q9ES57, Q9ES58

Diamond homologs: O54901, P04218, P0C788, P41217, Q5RAL8, Q9QJ17, P16170, A0A8M2B818, B0JYH6, P15151, P32506, P32507, Q15223, Q5FWR8, Q5ZPR3, Q7TPB4, Q8VE98, Q92692, Q9GL76, Q9JKF6, Q9NQS3, Q89738, P28685, Q58EG3, Q5E9Z9, Q8R007, Q9JLB9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	23
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1131 predictions. Top by Δscore:

Variant	Effect	Δscore
3:112344960:A:AG	acceptor_gain	1.0000
3:112344961:G:GG	acceptor_gain	1.0000
3:112349701:A:AG	acceptor_gain	1.0000
3:112333212:G:GT	donor_gain	0.9900
3:112333220:GGCTG:G	donor_gain	0.9900
3:112333221:GCTGG:G	donor_gain	0.9900
3:112333222:C:T	donor_gain	0.9900
3:112344950:AT:A	acceptor_gain	0.9900
3:112344951:T:G	acceptor_gain	0.9900
3:112344951:T:TA	acceptor_gain	0.9900
3:112344958:A:AG	acceptor_gain	0.9900
3:112344958:ATAGT:A	acceptor_gain	0.9900
3:112344959:T:G	acceptor_gain	0.9900
3:112344960:AGT:A	acceptor_gain	0.9900
3:112344961:GT:G	acceptor_gain	0.9900
3:112344961:GTG:G	acceptor_gain	0.9900
3:112344961:GTGC:G	acceptor_gain	0.9900
3:112345285:TATGG:T	donor_loss	0.9900
3:112345287:TGGTG:T	donor_loss	0.9900
3:112345289:G:GG	donor_gain	0.9900
3:112345289:GTG:G	donor_loss	0.9900
3:112345290:T:A	donor_loss	0.9900
3:112349709:TAG:T	acceptor_loss	0.9900
3:112349710:A:AC	acceptor_loss	0.9900
3:112349711:G:GC	acceptor_loss	0.9900
3:112349711:GGCT:G	acceptor_gain	0.9900
3:112349834:G:GT	donor_gain	0.9900
3:112333221:GCTG:G	donor_gain	0.9800
3:112333224:GGTGA:G	donor_loss	0.9800
3:112333225:G:A	donor_loss	0.9800

AlphaMissense

1751 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000124089 (3:112350353 C>T), RS1000464064 (3:112361194 G>A), RS1000522727 (3:112346502 T>C), RS1000699954 (3:112341704 G>C), RS1000704537 (3:112359628 T>C), RS1000750403 (3:112359917 G>C), RS1000797875 (3:112342374 T>A,C), RS1000811768 (3:112333221 G>A), RS1000830404 (3:112342579 C>T), RS1000867691 (3:112359040 C>G,T), RS1001006729 (3:112336017 G>A,T), RS1001067660 (3:112340526 T>C), RS1001251169 (3:112360554 A>G), RS1001262626 (3:112358187 G>A), RS1001305060 (3:112360861 A>G)

Disease associations

OMIM: gene MIM:155970 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

10 associations (top):

Study	Trait	p-value
GCST003075_39	Cognitive decline rate in late mild cognitive impairment	6.000000e-09
GCST004600_190	Eosinophil percentage of white cells	2.000000e-16
GCST004606_114	Eosinophil count	2.000000e-14
GCST004617_85	Eosinophil percentage of granulocytes	2.000000e-15
GCST004623_141	Neutrophil percentage of granulocytes	1.000000e-14
GCST004624_48	Sum eosinophil basophil counts	4.000000e-14
GCST006585_329	Blood protein levels	1.000000e-17
GCST90002381_180	Eosinophil count	6.000000e-25
GCST90002382_575	Eosinophil percentage of white cells	3.000000e-37
GCST90013410_11	Basal cell carcinoma	1.000000e-08

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0007710	cognitive decline measurement
EFO:0007991	eosinophil percentage of leukocytes
EFO:0004842	eosinophil count
EFO:0007996	eosinophil percentage of granulocytes
EFO:0007994	neutrophil percentage of granulocytes
EFO:0005090	basophil count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL3712870 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, affects expression	7
Benzo(a)pyrene	decreases expression, decreases methylation	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Tobacco Smoke Pollution	decreases expression	2
TL8-506	affects cotreatment, increases expression	1
bisphenol A	decreases expression	1
2,5,2’,5’-tetrachlorobiphenyl	increases expression	1
mono-(2-ethylhexyl)phthalate	decreases expression	1
pyrrolidine dithiocarbamic acid	affects cotreatment, decreases reaction, increases expression	1
perfluorooctanoic acid	increases expression	1
potassium chromate(VI)	decreases expression	1
bathocuproine sulfonate	affects cotreatment, decreases reaction, increases expression	1
nickel sulfate	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	increases reaction, affects binding	1
perfluoro-n-nonanoic acid	increases expression	1
entinostat	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
(+)-JQ1 compound	affects expression, increases reaction	1
Vorinostat	decreases expression	1
Panobinostat	affects expression, increases reaction	1
Acetaminophen	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Ethanol	decreases expression	1
Carbamazepine	affects expression	1
Demecolcine	increases expression	1
Doxorubicin	decreases expression	1
Formaldehyde	increases expression	1
Ketoconazole	increases expression	1

Cellosaurus cell lines

1 cell lines: 1 spontaneously immortalized cell line

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

Cellosaurus	Name	Category	Sex
CVCL_E6P9	Genomeditech CHO-K1 H_CD200	Spontaneously immortalized cell line	Female

Clinical trials (associated diseases)

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