CD300A

Summary

CD300A (CD300a molecule, HGNC:19319) is a protein-coding gene on chromosome 17q25.1, encoding CMRF35-like molecule 8 (Q9UGN4). Inhibitory receptor which may contribute to the down-regulation of cytolytic activity in natural killer (NK) cells, and to the down-regulation of mast cell degranulation.

This gene encodes a member of the CD300 glycoprotein family of cell surface proteins found on leukocytes involved in immune response signaling pathways. This gene is located on chromosome 17 in a cluster with all but one of the other family members. Multiple transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 11314 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 61 total
• MANE Select transcript: NM_007261

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19319
Approved symbol	CD300A
Name	CD300a molecule
Location	17q25.1
Locus type	gene with protein product
Status	Approved
Aliases	Irp60, CMRF35H, CMRF-35-H9, IRC1, IRC2, IGSF12
Ensembl gene	ENSG00000167851
Ensembl biotype	protein_coding
OMIM	606790
Entrez	11314

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 7 protein_coding, 1 retained_intron

ENST00000310828, ENST00000360141, ENST00000361933, ENST00000392625, ENST00000577511, ENST00000582319, ENST00000648095, ENST00000855628

RefSeq mRNA: 4 — MANE Select: NM_007261 NM_001256841, NM_001330456, NM_001330457, NM_007261

CCDS: CCDS32720, CCDS58590, CCDS82196, CCDS82197

Canonical transcript exons

ENST00000360141 — 7 exons

Exon	Start	End
ENSE00001117665	74481726	74481833
ENSE00001282790	74481289	74481326
ENSE00001867737	74466634	74466743
ENSE00003587328	74474532	74474685
ENSE00003676227	74477436	74477530
ENSE00003686882	74473536	74473874
ENSE00003839692	74484001	74484794

Expression profiles

Bgee: expression breadth ubiquitous, 220 present calls, max score 98.99.

FANTOM5 (CAGE): breadth broad, TPM avg 8.0956 / max 315.9441, expressed in 485 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
162613	6.5430	471
162612	1.5216	229
162614	0.0310	15

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	98.99	gold quality
blood	UBERON:0000178	98.09	gold quality
leukocyte	CL:0000738	97.80	gold quality
monocyte	CL:0000576	97.77	gold quality
mononuclear cell	CL:0000842	97.76	gold quality
spleen	UBERON:0002106	96.42	gold quality
bone marrow	UBERON:0002371	90.51	gold quality
bone marrow cell	CL:0002092	89.73	gold quality
amniotic fluid	UBERON:0000173	88.93	gold quality
vermiform appendix	UBERON:0001154	88.74	gold quality
bone element	UBERON:0001474	88.09	gold quality
periodontal ligament	UBERON:0008266	86.59	gold quality
lymph node	UBERON:0000029	86.39	gold quality
trabecular bone tissue	UBERON:0002483	85.38	gold quality
gall bladder	UBERON:0002110	85.09	gold quality
caecum	UBERON:0001153	84.31	gold quality
upper lobe of left lung	UBERON:0008952	83.69	gold quality
upper lobe of lung	UBERON:0008948	82.19	gold quality
decidua	UBERON:0002450	81.61	gold quality
small intestine Peyer’s patch	UBERON:0003454	80.40	gold quality
right lung	UBERON:0002167	80.37	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	80.33	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	79.06	gold quality
small intestine	UBERON:0002108	78.97	gold quality
rectum	UBERON:0001052	78.89	gold quality
spinal cord	UBERON:0002240	78.86	gold quality
left adrenal gland cortex	UBERON:0035825	78.14	gold quality
right lobe of liver	UBERON:0001114	78.10	gold quality
left adrenal gland	UBERON:0001234	77.96	gold quality
omental fat pad	UBERON:0010414	77.95	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-CURD-122	yes	44.12
E-ANND-3	yes	8.64
E-MTAB-9801	yes	4.95
E-MTAB-7606	no	1921.75

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

24 targeting CD300A, 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-4283	100.00	66.42	2097
HSA-MIR-4715-3P	99.98	66.03	670
HSA-MIR-185-3P	99.95	67.01	1743
HSA-MIR-1208	99.70	68.28	1533
HSA-MIR-3175	99.65	66.30	2031
HSA-MIR-452-5P	99.65	69.63	1762
HSA-MIR-4676-3P	99.65	69.31	1733
HSA-MIR-892C-3P	99.65	69.38	1745
HSA-MIR-510-3P	99.54	70.06	2965
HSA-MIR-4677-3P	99.49	67.91	1246
HSA-MIR-7974	99.24	65.48	1137
HSA-MIR-196A-3P	99.19	67.34	1204
HSA-MIR-5587-5P	99.07	68.58	838
HSA-MIR-4738-3P	98.98	67.98	1846
HSA-MIR-6770-5P	98.97	66.76	1853
HSA-MIR-6867-3P	98.12	66.07	1305
HSA-MIR-4469	97.93	65.81	1319
HSA-MIR-6783-5P	97.67	67.21	1528
HSA-MIR-4456	97.50	64.88	1678
HSA-MIR-4640-5P	97.42	66.33	1543
HSA-MIR-4726-5P	97.24	65.67	1299
HSA-MIR-4288	97.11	67.23	1636
HSA-MIR-505-5P	97.01	65.54	778
HSA-MIR-3675-5P	95.90	65.80	474

Literature-anchored findings (GeneRIF, showing 24)

• CMRF35A and CMRF35H have roles in immunoglobulin signaling; CMRF35H is an inhibitory molecule [review] (PMID:12456026)
• IRp60 is constitutively expressed on mast cells but is down-regulated by eosinophil major basic protein and eosinophil-derived neurotoxin. Cross-linking of IRp60 led to inhibition of IgE-induced degranulation and stem cell factor-mediated survival (PMID:16339535)
• Human neutrophils from peripheral blood express the ITIM containing CD300a (also known as IRp60 and CMRF-35H) receptor. Co-ligation of CD300a with (FcgammaRIIa) activation receptor inhibited CD32a mediated signalling. (PMID:17588661)
• CD300a as a novel regulator of Kit in human MC and suggest roles for this receptor as a suppressor of Kit signaling in MC-related disorders. (PMID:18424727)
• CD300a and CD300c play an important role in the cross-regulation of TNF-alpha and IFN-alpha secretion from pDCs; CD300a/c RNA and surface expression were downregulated after stimulation of pDCs with TLR7 and TLR9 ligands (PMID:18535206)
• CD300a(+) human Th1 cells tend to be polyfunctional and after stimulation up-regulate Eomes. (PMID:20498708)
• CD300a is an inhibitory receptor expressed by human natural killer (NK) cells, but surprisingly, not all NK clones are inhibited in a CD300a-dependent manner. (PMID:20656921)
• Down-regulation of CD300a is associated with HIV infection. (PMID:21482706)
• CD300a blocked TLR4-mediated and TLR9-mediated expression of pro-inflammatory mediators without affecting TLR3-mediated events. (PMID:22043923)
• differential expression on human TH1 and TH17 cell memory subsets (PMID:22046970)
• CD300a is expressed on human peripheral blood basophils and rapidly up-regulated upon cross-linking of IgE/Fc-epsilon-RI and suppresses anaphylactic degranulation. (PMID:22173928)
• These results indicated that CD300a is a new phosphatidylserine receptor. (PMID:22185693)
• our results indicate that phosphatidylethanolamine and phosphatidylserine are ligands for CD300a, and that this interaction plays an important role in regulating the removal of dead cells. (PMID:22302738)
• SHP-1, but not SHP-2 or the src homology 2 domain containing inositol 5’ phosphatase SHIP, was utilized by CD300a for its inhibitory activity. These studies provide new insights into the function of CD300a in tuning T and B cell responses. (PMID:22537350)
• The inhibitory receptor CD300a is regulator of monocytes transendothelial migration. (PMID:24058511)
• CD300a induction by the hypoxic environment represents a mechanism of regulation of monocyte/macrophage pro-inflammatory responses at pathologic sites (PMID:24131792)
• interaction with phosphatidylserines inhibits IgE/FcepsilonRI-dependent anaphylactic basophil degranulation (PMID:24815424)
• Data show that peroxisome proliferator activator receptor delta (PPARdelta/beta) directly regulates CD300a protein in macrophages. (PMID:24958459)
• High CD300A expression is associated with diffuse large B-cell lymphoma. (PMID:26435477)
• Overall, these data indicate that CD300a is a novel Dengue virus binding receptor that recognizes phosphatidylethanolamine and phosphatidylserine present on virions and enhance infection. (PMID:26468529)
• US3 protein kinase of pseudorabies virus triggers the binding of the inhibitory natural killer cell receptor CD300a to the surface of the infected cell, and protects of virus infected cells against natural killer cell-mediated lysis. (PMID:26581992)
• Results provide an insight into the novel set of paired receptors CD300a and CD300c that are distinctively expressed on CD56(bright) natural killers (NK) cells with varied effector functions and show there differential binding to their ligands phosphatidylethanolamine and phosphatidylserine (PS) resulting in their differential ability to affect CD56(bright) NK cell functions. (PMID:27040328)
• CD300 molecules participate in the mechanisms that viruses employ to develop immune evasion strategies and to infect host cells [Review]. (PMID:30485414)
• CD300a and CD300f molecules regulate the function of leukocytes. (PMID:33548578)

Cross-species orthologs

1 orthologs

Organism	Symbol	Gene ID
mus_musculus	Cd300a	ENSMUSG00000034652

Paralogs (13): TREM2 (ENSG00000095970), TMIGD3 (ENSG00000121933), CD300LG (ENSG00000161649), TREML1 (ENSG00000161911), FCMR (ENSG00000162894), PIGR (ENSG00000162896), FCAMR (ENSG00000162897), CD300C (ENSG00000167850), CD300LB (ENSG00000178789), CD300LF (ENSG00000186074), CD300E (ENSG00000186407), CD300LD (ENSG00000204345), CD300H (ENSG00000284690)

Protein

Protein identifiers

CMRF35-like molecule 8 — Q9UGN4 (reviewed: Q9UGN4)

Alternative names: CD300 antigen-like family member A, CMRF-35-H9, CMRF35-H, IRC1/IRC2, Immunoglobulin superfamily member 12, Inhibitory receptor protein 60, NK inhibitory receptor

All UniProt accessions (2): Q9UGN4, J3QKQ4

UniProt curated annotations — full annotation on UniProt →

Function. Inhibitory receptor which may contribute to the down-regulation of cytolytic activity in natural killer (NK) cells, and to the down-regulation of mast cell degranulation. Negatively regulates the Toll-like receptor (TLR) signaling mediated by MYD88 but not TRIF through activation of PTPN6.

Subunit / interactions. Upon tyrosine-phosphorylation, interacts with PTN6/SHP-1 and PTPN11/SHP-2 and INPP5D.

Subcellular location. Cell membrane.

Tissue specificity. Expressed not only by natural killer (NK) cells but also by T-cell subsets, B-cells, dendritic cells, mast cells, granulocytes and monocytes.

Post-translational modifications. Phosphorylated on tyrosine. N-glycosylated.

Similarity. Belongs to the CD300 family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q9UGN4-1	1, IRC1a	yes
Q9UGN4-2	2, IRC1c
Q9UGN4-3	3, IRC1b
Q9UGN4-4	4

RefSeq proteins (4): NP_001243770, NP_001317385, NP_001317386, NP_009192* (*=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
IPR050671	CD300_family_receptors	Family

Pfam: PF07686, PF15330

UniProt features (34 total): strand 10, sequence conflict 6, splice variant 3, helix 3, topological domain 2, glycosylation site 2, signal peptide 1, chain 1, disulfide bond 1, sequence variant 1, transmembrane region 1, domain 1, region of interest 1, modified residue 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2Q87	X-RAY DIFFRACTION	1.7

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UGN4-F1	70.59	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.

Post-translational modifications (1): 293

Disulfide bonds (1): 36–103

Glycosylation sites (2): 83, 92

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-198933	Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
R-HSA-6798695	Neutrophil degranulation
R-HSA-9918485	Dengue Virus Attachment and Entry

MSigDB gene sets: 350 (showing top): GOBP_REGULATION_OF_T_CELL_RECEPTOR_SIGNALING_PATHWAY, GOBP_REGULATION_OF_B_CELL_RECEPTOR_SIGNALING_PATHWAY, GOBP_REGULATION_OF_CELL_ACTIVATION, GOBP_NEGATIVE_REGULATION_OF_MAP_KINASE_ACTIVITY, GOBP_REGULATION_OF_ANTIGEN_RECEPTOR_MEDIATED_SIGNALING_PATHWAY, GOBP_REGULATION_OF_LEUKOCYTE_PROLIFERATION, REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_REGULATION_OF_ALPHA_BETA_T_CELL_ACTIVATION, GOBP_MYELOID_LEUKOCYTE_MIGRATION, GOBP_REGULATION_OF_PHOSPHORYLATION, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, GOBP_NEGATIVE_REGULATION_OF_KINASE_ACTIVITY, GOBP_B_CELL_ACTIVATION, GOCC_SECRETORY_GRANULE, GOBP_NEGATIVE_REGULATION_OF_LEUKOCYTE_PROLIFERATION

GO Biological Process (18): immune system process (GO:0002376), cell adhesion (GO:0007155), signal transduction (GO:0007165), negative regulation of B cell proliferation (GO:0030889), negative regulation of mast cell activation involved in immune response (GO:0033007), negative regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034125), intracellular signal transduction (GO:0035556), negative regulation of mast cell degranulation (GO:0043305), negative regulation of MAP kinase activity (GO:0043407), regulation of innate immune response (GO:0045088), negative regulation of fibroblast proliferation (GO:0048147), regulation of T cell receptor signaling pathway (GO:0050856), negative regulation of B cell receptor signaling pathway (GO:0050859), negative regulation of NK T cell activation (GO:0051134), negative regulation of phagocytosis, engulfment (GO:0060101), negative regulation of neutrophil activation (GO:1902564), negative regulation of eosinophil activation (GO:1902567), negative regulation of eosinophil migration (GO:2000417)

GO Molecular Function (5): phosphatidylserine binding (GO:0001786), transmembrane signaling receptor activity (GO:0004888), phosphatidylethanolamine binding (GO:0008429), signaling receptor activity (GO:0038023), protein binding (GO:0005515)

GO Cellular Component (5): plasma membrane (GO:0005886), membrane (GO:0016020), extracellular exosome (GO:0070062), tertiary granule membrane (GO:0070821), ficolin-1-rich granule membrane (GO:0101003)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Adaptive Immune System	1
Innate Immune System	1
Dengue Virus Infection	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular process	2
negative regulation of leukocyte activation	2
phospholipid binding	2
secretory granule membrane	2
tertiary granule	2
biological_process	1
cell communication	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
regulation of B cell proliferation	1
B cell proliferation	1
negative regulation of lymphocyte proliferation	1
negative regulation of B cell activation	1
mast cell activation involved in immune response	1
negative regulation of immune effector process	1
negative regulation of mast cell activation	1
negative regulation of immune response	1
MyD88-dependent toll-like receptor signaling pathway	1
negative regulation of toll-like receptor signaling pathway	1
regulation of MyD88-dependent toll-like receptor signaling pathway	1
intracellular anatomical structure	1
signal transduction	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
MAP kinase activity	1
regulation of MAP kinase activity	1
negative regulation of MAPK cascade	1
negative regulation of protein serine/threonine kinase activity	1
regulation of response to biotic stimulus	1
regulation of defense response	1
regulation of response to external stimulus	1
innate immune response	1
regulation of immune response	1
negative regulation of cell population proliferation	1
fibroblast proliferation	1
regulation of fibroblast proliferation	1
T cell receptor signaling pathway	1

Protein interactions and networks

STRING

1512 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CD300A	PRG2	P13727	748
CD300A	RNASE2	P10153	706
CD300A	HLA-E	P13747	628
CD300A	NAT9	Q9BTE0	618
CD300A	HLA-C	P04222	584
CD300A	KLRC1	P26715	573
CD300A	KLRD1	Q13241	544
CD300A	PTPN6	P29350	538
CD300A	CCR3	P51677	537
CD300A	CD200R1	Q8TD46	534
CD300A	CARD14	Q9BXL6	528
CD300A	TYROBP	O43914	521
CD300A	SIGLEC8	Q9NYZ4	513
CD300A	SIGLEC7	Q9Y286	511
CD300A	LAIR1	Q6GTX8	511

IntAct

27 interactions, top by confidence:

A	B	Type	Score
CD300A	CD300LB	psi-mi:“MI:0915”(physical association)	0.590
CD300LB	CD300A	psi-mi:“MI:0915”(physical association)	0.590
CD300A		psi-mi:“MI:0915”(physical association)	0.560
CD300A	KRT38	psi-mi:“MI:0915”(physical association)	0.560
KRT38	CD300A	psi-mi:“MI:0915”(physical association)	0.560
	CD300A	psi-mi:“MI:0915”(physical association)	0.560
SEC22A	CD300A	psi-mi:“MI:0915”(physical association)	0.560
TMEM60	CD300A	psi-mi:“MI:0915”(physical association)	0.560
VMA12	CD300A	psi-mi:“MI:0915”(physical association)	0.560
TMEM218	CD300A	psi-mi:“MI:0915”(physical association)	0.560
CD300A	CD300LF	psi-mi:“MI:0915”(physical association)	0.400
CD300A	CD300E	psi-mi:“MI:0915”(physical association)	0.400
CD300A	CD300A	psi-mi:“MI:0915”(physical association)	0.400
CD300A	CD300LD	psi-mi:“MI:0915”(physical association)	0.400
CD300A	CD300C	psi-mi:“MI:0915”(physical association)	0.400
CD300A	PTPN6	psi-mi:“MI:0914”(association)	0.350
TMEM60	CD300A	psi-mi:“MI:0915”(physical association)	0.000
VMA12	CD300A	psi-mi:“MI:0915”(physical association)	0.000
SEC22A	CD300A	psi-mi:“MI:0915”(physical association)	0.000
TMEM218	CD300A	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (7): CD300A (Two-hybrid), KRTAP10-3 (Two-hybrid), CD300A (Two-hybrid), CD300A (Two-hybrid), CD300A (Two-hybrid), TMEM199 (Two-hybrid), CD300A (Affinity Capture-MS)

ESM2 similar proteins: A0A0K2S4Q6, A2A7V7, A6NI73, A8K4G0, O43699, O75019, O75022, O75023, O75871, O76036, P0C191, P20138, P24071, P40198, P59901, P80943, Q08708, Q13410, Q28110, Q3U497, Q496F6, Q64JA4, Q6GTX8, Q6ISS4, Q6PI73, Q6UXZ3, Q7TSN2, Q863H2, Q8C567, Q8K249, Q8MJZ2, Q8MJZ7, Q8N149, Q8N423, Q8N6C8, Q8NHJ6, Q8NHL6, Q8VBT3, Q8VCH2, Q95JB9

Diamond homologs: A0A0K2S4Q6, A2A7V7, A2TGX5, A5D7B2, A8K4G0, O70570, P01832, P01833, P0DUB1, P15083, P81265, Q08708, Q1ERP8, Q3LRV9, Q3U497, Q496F6, Q566E6, Q6SJQ0, Q6SJQ5, Q6SJQ7, Q6UXG3, Q6UXZ3, Q7TSN2, Q8K249, Q8TDQ1, Q8VCH2, Q99NH8, Q9UGN4, O95944, Q2TB54, G3X8R9, P0DMS9, Q2LA85, O60667, Q86YW5, Q8K558, A1KXC4, Q5M871, Q5R770, Q8WWV6

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	43
Likely benign	8
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1020 predictions. Top by Δscore:

Variant	Effect	Δscore
17:74474686:G:GG	donor_gain	1.0000
17:74466588:G:GT	donor_gain	0.9900
17:74466614:G:GT	donor_gain	0.9900
17:74474669:G:GT	donor_gain	0.9900
17:74477430:CTCCA:C	acceptor_loss	0.9900
17:74477431:TCCAG:T	acceptor_loss	0.9900
17:74477432:CCAGG:C	acceptor_loss	0.9900
17:74477433:CAG:C	acceptor_loss	0.9900
17:74477434:A:AG	acceptor_gain	0.9900
17:74477434:A:G	acceptor_loss	0.9900
17:74477434:AG:A	acceptor_gain	0.9900
17:74477435:G:GA	acceptor_loss	0.9900
17:74477435:G:GG	acceptor_gain	0.9900
17:74477435:GG:G	acceptor_gain	0.9900
17:74477529:AGGT:A	donor_loss	0.9900
17:74477530:GGTG:G	donor_loss	0.9900
17:74477531:GT:G	donor_loss	0.9900
17:74477532:T:G	donor_loss	0.9900
17:74481831:GTG:G	donor_gain	0.9900
17:74481832:TGG:T	donor_loss	0.9900
17:74481833:GGTAA:G	donor_loss	0.9900
17:74481834:G:GC	donor_loss	0.9900
17:74481834:G:GG	donor_gain	0.9900
17:74481835:TAAG:T	donor_loss	0.9900
17:74473854:TTG:T	donor_gain	0.9800
17:74474684:CA:C	donor_gain	0.9800
17:74477531:G:GG	donor_gain	0.9800
17:74481287:AGCT:A	acceptor_gain	0.9800
17:74481288:GCTG:G	acceptor_gain	0.9800
17:74481829:CTGTG:C	donor_gain	0.9800

AlphaMissense

1920 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:74473636:A:C	K47N	0.977
17:74473636:A:T	K47N	0.977
17:74473642:G:C	W49C	0.973
17:74473642:G:T	W49C	0.973
17:74473751:T:C	F86L	0.958
17:74473753:C:A	F86L	0.958
17:74473753:C:G	F86L	0.958
17:74473752:T:C	F86S	0.949
17:74473635:A:T	K47I	0.945
17:74473640:T:A	W49R	0.944
17:74473640:T:C	W49R	0.944
17:74473634:A:G	K47E	0.943
17:74473796:T:G	Y101D	0.939
17:74473802:T:A	C103S	0.939
17:74473803:G:C	C103S	0.939
17:74473758:T:A	V88E	0.934
17:74473785:A:C	D97A	0.931
17:74473784:G:C	D97H	0.930
17:74473773:T:A	L93H	0.923
17:74473785:A:T	D97V	0.923
17:74473725:T:C	I77T	0.920
17:74473785:A:G	D97G	0.918
17:74473725:T:A	I77N	0.914
17:74473786:T:A	D97E	0.913
17:74473786:T:G	D97E	0.913
17:74473635:A:C	K47T	0.911
17:74473634:A:C	K47Q	0.910
17:74473752:T:G	F86C	0.910
17:74473601:T:A	C36S	0.903
17:74473602:G:C	C36S	0.903

dbSNP variants (sampled 300 via entrez): RS1000002779 (17:74478691 C>T), RS1000221896 (17:74464540 G>A,T), RS1000283136 (17:74469808 A>G), RS1000493331 (17:74475564 C>G,T), RS1000615140 (17:74465292 G>A,T), RS1000672807 (17:74470891 A>G), RS1000987006 (17:74467248 G>A), RS1001137937 (17:74465707 T>C), RS1001190930 (17:74480222 T>C), RS1001376314 (17:74473572 G>A,T), RS1001651723 (17:74475265 C>G), RS1001663091 (17:74475009 C>T), RS1001794641 (17:74470568 C>T), RS1001889677 (17:74470281 G>A,T), RS1002012019 (17:74476319 A>G)

Disease associations

OMIM: gene MIM:606790 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST006585_2096	Blood protein levels	1.000000e-52
GCST008478_44	Neurological blood protein biomarker levels	3.000000e-10

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: other protein — CD molecules

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, increases methylation	2
Tretinoin	increases expression	2
tungsten carbide	affects cotreatment, increases expression	1
triphenyl phosphate	affects expression	1
2-methyl-4-isothiazolin-3-one	increases expression	1
benzo(e)pyrene	increases methylation	1
aflatoxin B2	increases methylation	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment, decreases expression	1
tamibarotene	increases expression	1
Am 580	increases expression	1
abrine	increases expression	1
bisphenol S	decreases expression	1
(+)-JQ1 compound	decreases expression	1
Rosiglitazone	increases expression	1
Arsenicals	decreases expression	1
Calcitriol	decreases expression	1
Cisplatin	increases expression	1
Cobalt	affects cotreatment, increases expression	1
Ethyl Methanesulfonate	decreases expression	1
Formaldehyde	decreases expression	1
Iron	increases expression	1
Lipopolysaccharides	affects cotreatment, decreases expression, affects response to substance, increases expression	1
Methapyrilene	increases methylation	1
Methyl Methanesulfonate	decreases expression	1
Nickel	increases expression	1
Oxygen	increases expression	1
Phthalic Acids	increases methylation	1
Tetrachlorodibenzodioxin	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Triclosan	increases expression	1

Clinical trials (associated diseases)

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