CD300LF

Summary

CD300LF (CD300 molecule like family member f, HGNC:29883) is a protein-coding gene on chromosome 17q25.1, encoding CMRF35-like molecule 1 (Q8TDQ1). Acts as an inhibitory receptor for myeloid cells and mast cells.

This gene encodes a member of the CD300 protein family. Members of this family are cell surface glycoproteins with a single IgV-like extracellular domain, and are involved in the regulation of immune response. The encoded protein is an inhibitory receptor. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 146722 — RefSeq curated summary.

At a glance

• GWAS associations: 23
• Clinical variants (ClinVar): 45 total
• MANE Select transcript: NM_139018

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29883
Approved symbol	CD300LF
Name	CD300 molecule like family member f
Location	17q25.1
Locus type	gene with protein product
Status	Approved
Aliases	IREM1, NKIR, IGSF13, CD300f, CLM1
Ensembl gene	ENSG00000186074
Ensembl biotype	protein_coding
OMIM	609807
Entrez	146722

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 11 protein_coding, 1 nonsense_mediated_decay, 1 retained_intron

ENST00000301573, ENST00000326165, ENST00000462044, ENST00000464910, ENST00000469092, ENST00000581500, ENST00000583544, ENST00000583937, ENST00000886268, ENST00000963430, ENST00000963431, ENST00000963432, ENST00000963433

RefSeq mRNA: 7 — MANE Select: NM_139018 NM_001289082, NM_001289083, NM_001289084, NM_001289085, NM_001289086, NM_001289087, NM_139018

CCDS: CCDS11704, CCDS74148, CCDS74149, CCDS74150, CCDS74151, CCDS74152

Canonical transcript exons

ENST00000326165 — 7 exons

Exon	Start	End
ENSE00002463406	74703035	74703098
ENSE00002466831	74704478	74704816
ENSE00003569639	74698369	74698481
ENSE00003604022	74712824	74712923
ENSE00003624388	74696195	74696217
ENSE00003639034	74695725	74695859
ENSE00003689706	74694317	74695251

Expression profiles

Bgee: expression breadth ubiquitous, 168 present calls, max score 98.23.

FANTOM5 (CAGE): breadth broad, TPM avg 5.7100 / max 252.8781, expressed in 337 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
167997	5.4455	335
167998	0.2646	142

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
monocyte	CL:0000576	98.23	gold quality
leukocyte	CL:0000738	98.04	gold quality
granulocyte	CL:0000094	96.84	gold quality
blood	UBERON:0000178	95.50	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	94.79	gold quality
spleen	UBERON:0002106	89.50	gold quality
bone marrow	UBERON:0002371	87.44	gold quality
vermiform appendix	UBERON:0001154	86.84	gold quality
bone marrow cell	CL:0002092	83.14	gold quality
trabecular bone tissue	UBERON:0002483	82.52	gold quality
upper lobe of left lung	UBERON:0008952	82.19	gold quality
upper lobe of lung	UBERON:0008948	82.01	gold quality
right lung	UBERON:0002167	81.43	gold quality
lower lobe of lung	UBERON:0008949	80.37	gold quality
caecum	UBERON:0001153	79.61	gold quality
lung	UBERON:0002048	78.14	gold quality
lymph node	UBERON:0000029	75.87	gold quality
visceral pleura	UBERON:0002401	74.70	gold quality
mucosa of transverse colon	UBERON:0004991	73.71	gold quality
rectum	UBERON:0001052	73.60	gold quality
palpebral conjunctiva	UBERON:0001812	73.14	gold quality
nasal cavity epithelium	UBERON:0005384	71.62	gold quality
gall bladder	UBERON:0002110	70.36	gold quality
superficial temporal artery	UBERON:0001614	70.03	gold quality
smooth muscle tissue	UBERON:0001135	69.91	gold quality
epithelium of nasopharynx	UBERON:0001951	68.99	silver quality
nasopharynx	UBERON:0001728	68.98	silver quality
C1 segment of cervical spinal cord	UBERON:0006469	67.76	gold quality
cerebellar hemisphere	UBERON:0002245	66.73	gold quality
cerebellar cortex	UBERON:0002129	66.63	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.11
E-GEOD-70580	no	697.95

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

34 targeting CD300LF, 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-4692	100.00	67.32	2066
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-433-3P	99.98	69.37	1203
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-12119	99.87	68.35	1653
HSA-MIR-204-5P	99.79	71.62	2439
HSA-MIR-211-5P	99.79	71.65	2440
HSA-MIR-1976	99.74	65.48	1127
HSA-MIR-132-3P	99.73	70.56	1424
HSA-MIR-212-3P	99.73	70.65	1424
HSA-MIR-1197	99.70	67.75	1027
HSA-MIR-548M	99.70	68.87	1749
HSA-MIR-1827	99.63	68.57	3265
HSA-MIR-4437	99.52	65.29	1266
HSA-MIR-4688	99.48	64.68	828
HSA-MIR-3922-3P	99.25	64.96	1136
HSA-MIR-3176	99.25	64.35	954
HSA-MIR-6744-3P	99.22	64.41	972
HSA-MIR-4757-5P	99.12	64.51	981
HSA-MIR-6738-3P	99.03	67.14	1326
HSA-MIR-12135	98.99	70.26	1814
HSA-MIR-4751	98.80	64.95	525
HSA-MIR-4536-5P	98.47	64.39	657
HSA-MIR-224-5P	98.33	70.12	1256
HSA-MIR-615-5P	98.10	63.76	591
HSA-MIR-10395-3P	98.10	66.70	1726
HSA-MIR-4443	98.02	66.25	1928
HSA-MIR-3670	97.88	64.39	763
HSA-MIR-10400-3P	97.29	64.66	597
HSA-MIR-4674	97.29	64.62	597

Literature-anchored findings (GeneRIF, showing 16)

• IgSF13 was identified from dendritic cells; preferentially expressed in myelo-monocytic cells, including monocytes, monocyte-derived DC and monocyte-related cell lines; may be involved in the negative regulation of specific leukocyte population [IgSF13] (PMID:15184070)
• a novel inhibitory receptor of the Ig superfamily in myeloid cells. (IREM-1 = immune receptor expressed on myeloid cells-1) (PMID:15549731)
• reveal a putative functional duality of the IREM-1 myeloid cell receptor (PMID:17202342)
• Findings indicate that IREM-1 exerted its inhibitory effect on BAFF-medicated signalling through ITIM-mediated regulation of ERK activities in THP-1 cells. (PMID:20646006)
• Data indicate that CD300F is an active regulator of TLR-mediated macrophage activation through association with SHP-1 involving MyD88 and/or TRIF. (PMID:21536801)
• The data suggest that the neuroprotective role of CD300f would be the result of a complex network of cell interactions. (PMID:21951326)
• CD300f blocked the activation of cells induced by all TLR ligands (PMID:22043923)
• peptides containing ITIM-like sequences of IREM-1 (CD300F) differentially regulate MyD88 and TRIF-mediated TLR signalling (PMID:22288587)
• CD300 molecules are all expressed by DC; CD300b, d, e and f are restricted to different subpopulations of the myeloid DC lineage. They have been shown to regulate DC function both in vitro and in vivo. (PMID:23072861)
• findings suggest that two rare heterozygous truncating variations (RPS24 Q191X and CD300LF P261fsX266) are risk candidates for autism spectrum disorder. (PMID:25601189)
• this study demonstrates the role of CD300f in governing innate immune eosinophil activities in pediatric Crohn’s disease patients and in active ulcerative colitis patients (PMID:27118491)
• ceramide-CD300f interaction inhibits neutrophil recruitment to the sites of Gram-negative bacterial skin infections in mice. (PMID:29221685)
• Differential Lipid Recognition by Mouse versus Human CD300f, Inhibiting Passive Cutaneous Anaphylaxis, Depends on a Single Amino Acid Substitution in its Immunoglobulin-Like Domain. (PMID:31476319)
• Single-nucleotide polymorphism in CD300f gene is associated with major depressive disorder. (PMID:32152116)
• CD300a and CD300f molecules regulate the function of leukocytes. (PMID:33548578)
• CD300f signalling induces inhibitory human monocytes/macrophages. (PMID:37302321)

Cross-species orthologs

10 orthologs

Organism	Symbol	Gene ID
mus_musculus	Cd300ld	ENSMUSG00000034641
mus_musculus	Cd300lf	ENSMUSG00000047798
mus_musculus	Cd300ld3	ENSMUSG00000069607
mus_musculus	Cd300ld4	ENSMUSG00000069609
mus_musculus	Cd300ld5	ENSMUSG00000089722
mus_musculus	Cd300ld2	ENSMUSG00000089753
rattus_norvegicus	Cd300lf	ENSRNOG00000021424
rattus_norvegicus	Cd300ld	ENSRNOG00000042251
rattus_norvegicus	Cd300le	ENSRNOG00000042825
rattus_norvegicus	Cd300ldl1	ENSRNOG00000052940

Paralogs (13): TREM2 (ENSG00000095970), TMIGD3 (ENSG00000121933), CD300LG (ENSG00000161649), TREML1 (ENSG00000161911), FCMR (ENSG00000162894), PIGR (ENSG00000162896), FCAMR (ENSG00000162897), CD300C (ENSG00000167850), CD300A (ENSG00000167851), CD300LB (ENSG00000178789), CD300E (ENSG00000186407), CD300LD (ENSG00000204345), CD300H (ENSG00000284690)

Protein

Protein identifiers

CMRF35-like molecule 1 — Q8TDQ1 (reviewed: Q8TDQ1)

Alternative names: CD300 antigen-like family member F, Immune receptor expressed on myeloid cells 1, Immunoglobulin superfamily member 13, NK inhibitory receptor

All UniProt accessions (2): Q8TDQ1, J3KS52

UniProt curated annotations — full annotation on UniProt →

Function. Acts as an inhibitory receptor for myeloid cells and mast cells. Positively regulates the phagocytosis of apoptotic cells (efferocytosis) via phosphatidylserine (PS) recognition; recognizes and binds PS as a ligand which is expressed on the surface of apoptotic cells. Plays an important role in the maintenance of immune homeostasis, by promoting macrophage-mediated efferocytosis and by inhibiting dendritic cell-mediated efferocytosis. Negatively regulates Fc epsilon receptor-dependent mast cell activation and allergic responses via binding to ceramide and sphingomyelin which act as ligands. May act as a coreceptor for interleukin 4 (IL-4). Associates with and regulates IL-4 receptor alpha-mediated responses by augmenting IL-4- and IL-13-induced signaling. Negatively regulates the Toll-like receptor (TLR) signaling mediated by MYD88 and TRIF through activation of PTPN6/SHP-1 and PTPN11/SHP-2. Inhibits osteoclast formation. Induces macrophage cell death upon engagement.

Subunit / interactions. Interacts with PTPN6/SHP-1 in a tyrosine phosphorylation dependent manner. Interacts with IL4R.

Subcellular location. Cell membrane.

Tissue specificity. Highly expressed in spleen, peripheral blood leukocyte and monocyte, and lung. Weakly expressed in thymus, heart, brain, placenta, liver, skeletal muscle, kidney, pancreas, prostate, testis, ovary, small intestine or colon. Expressed selectively in monocytes and monocyte-related cells.

Post-translational modifications. Phosphorylated on tyrosine.

Similarity. Belongs to the CD300 family.

Isoforms (6)

UniProt ID	Names	Canonical?
Q8TDQ1-1	1	yes
Q8TDQ1-2	2
Q8TDQ1-3	3
Q8TDQ1-4	4
Q8TDQ1-5	5
Q8TDQ1-6	6

RefSeq proteins (7): NP_001276011, NP_001276012, NP_001276013, NP_001276014, NP_001276015, NP_001276016, NP_620587* (*=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 (46 total): strand 11, splice variant 10, sequence conflict 7, mutagenesis site 3, disulfide bond 2, topological domain 2, sequence variant 2, signal peptide 1, chain 1, transmembrane region 1, turn 1, helix 1, domain 1, region of interest 1, site 1, glycosylation site 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2NMS	X-RAY DIFFRACTION	2.6

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8TDQ1-F1	73.16	0.43

Functional residue map

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

Catalytic / active sites (1): 205 (phosphatase-binding)

Disulfide bonds (2): 54–62, 40–108

Glycosylation sites (1): 88

Mutagenesis-validated functional residues (3):

Position	Phenotype
205	no interaction with ptpn6.
249	interaction with ptpn6.
284	interaction with ptpn6.

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: 197 (showing top): GSE45365_NK_CELL_VS_CD11B_DC_DN, GOBP_REGULATION_OF_CELL_ACTIVATION, GOBP_POSITIVE_REGULATION_OF_ENDOCYTOSIS, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, GOBP_RESPONSE_TO_INTERLEUKIN_4, GOBP_RESPONSE_TO_PEPTIDE, GOBP_NEGATIVE_REGULATION_OF_TOLL_LIKE_RECEPTOR_SIGNALING_PATHWAY, GOBP_NEGATIVE_REGULATION_OF_ENDOCYTOSIS, GOBP_APOPTOTIC_CELL_CLEARANCE, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_MYD88_DEPENDENT_TOLL_LIKE_RECEPTOR_SIGNALING_PATHWAY, GOBP_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT, GOBP_REGULATION_OF_TOLL_LIKE_RECEPTOR_SIGNALING_PATHWAY, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, GOBP_TOLL_LIKE_RECEPTOR_SIGNALING_PATHWAY

GO Biological Process (9): immune response-activating signaling pathway (GO:0002757), negative regulation of mast cell activation (GO:0033004), negative regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034125), TRIF-dependent toll-like receptor signaling pathway (GO:0035666), interleukin-13-mediated signaling pathway (GO:0035772), positive regulation of interleukin-4-mediated signaling pathway (GO:1902216), negative regulation of apoptotic cell clearance (GO:2000426), positive regulation of apoptotic cell clearance (GO:2000427), immune system process (GO:0002376)

GO Molecular Function (7): phosphatidylserine binding (GO:0001786), transmembrane signaling receptor activity (GO:0004888), interleukin-4 receptor binding (GO:0005136), identical protein binding (GO:0042802), ceramide binding (GO:0097001), protein binding (GO:0005515), lipid binding (GO:0008289)

GO Cellular Component (2): plasma membrane (GO:0005886), membrane (GO:0016020)

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
apoptotic cell clearance	2
regulation of apoptotic cell clearance	2
binding	2
activation of immune response	1
immune response-regulating signaling pathway	1
negative regulation of leukocyte activation	1
regulation of mast cell activation	1
mast cell activation	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
MyD88-independent toll-like receptor signaling pathway	1
cytokine-mediated signaling pathway	1
cellular response to interleukin-13	1
positive regulation of cytokine-mediated signaling pathway	1
interleukin-4-mediated signaling pathway	1
regulation of interleukin-4-mediated signaling pathway	1
negative regulation of phagocytosis	1
positive regulation of phagocytosis	1
biological_process	1
phospholipid binding	1
anion binding	1
modified amino acid binding	1
signaling receptor activity	1
cytokine receptor binding	1
growth factor receptor binding	1
protein binding	1
sphingolipid binding	1
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1362 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CD300LF	PTPN11	Q06124	644
CD300LF	GADD45G	O95257	625
CD300LF	CDH1	P12830	624
CD300LF	TYROBP	O43914	598
CD300LF	HLA-E	P13747	589
CD300LF	INPP5D	Q92835	573
CD300LF	F11R	Q9Y624	558
CD300LF	FCER1G	P30273	550
CD300LF	HLA-C	P04222	549
CD300LF	ADGRB1	O14514	540
CD300LF	FYN	P06241	524
CD300LF	IL4R	P24394	518
CD300LF	CD200	P41217	503
CD300LF	KLRC1	P26715	482
CD300LF	NCAM1	P13591	481

IntAct

17 interactions, top by confidence:

A	B	Type	Score
CD300LF	CD300LF	psi-mi:“MI:0915”(physical association)	0.700
CD300LB	CD300LF	psi-mi:“MI:0915”(physical association)	0.590
CD300LF	CD300LB	psi-mi:“MI:0915”(physical association)	0.590
CD300E	CD300LF	psi-mi:“MI:0915”(physical association)	0.400
CD300A	CD300LF	psi-mi:“MI:0915”(physical association)	0.400
CD300LF	CD300LD	psi-mi:“MI:0915”(physical association)	0.400
CD300C	CD300LF	psi-mi:“MI:0915”(physical association)	0.400
CD300LF	CD300LG	psi-mi:“MI:0915”(physical association)	0.400
CD300LF	HAVCR1	psi-mi:“MI:0915”(physical association)	0.400
CD300LF	SIGLEC5	psi-mi:“MI:0915”(physical association)	0.400
CD300LF	TIMD4	psi-mi:“MI:0915”(physical association)	0.400
CD300LF	TYRO3	psi-mi:“MI:0915”(physical association)	0.400
PTPN6	CD300LF	psi-mi:“MI:0914”(association)	0.350

BioGRID (6): PTPN6 (Affinity Capture-Western), CD300LF (Synthetic Lethality), CD300LF (Two-hybrid), CD300LF (Positive Genetic), CD300LF (Protein-peptide), APP (Reconstituted Complex)

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

Diamond homologs: A0A0K2S4Q6, A2A7V7, A2TGX5, A5D7B2, 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, Q86YW5, Q8K558, A1KXC4, O60667, Q29244, Q5M871, Q5R770

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
FYN	“up-regulates activity”	CD300LF	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 11 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell	6	52.3×	1e-08

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	32
Likely benign	6
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

1565 predictions. Top by Δscore:

Variant	Effect	Δscore
17:74695720:CGCA:C	donor_loss	1.0000
17:74695743:TTC:T	donor_loss	1.0000
17:74695744:T:TA	donor_gain	1.0000
17:74695861:T:G	acceptor_loss	1.0000
17:74704472:TCTTA:T	donor_loss	1.0000
17:74704473:CTTAC:C	donor_loss	1.0000
17:74704474:TTA:T	donor_loss	1.0000
17:74704475:TACCT:T	donor_loss	1.0000
17:74704476:A:C	donor_loss	1.0000
17:74704477:C:G	donor_loss	1.0000
17:74712819:CTCA:C	donor_loss	1.0000
17:74712820:TCA:T	donor_loss	1.0000
17:74712821:CAC:C	donor_loss	1.0000
17:74712822:ACCTG:A	donor_loss	1.0000
17:74712823:C:A	donor_loss	1.0000
17:74695251:CCT:C	acceptor_loss	0.9900
17:74695252:C:CC	acceptor_gain	0.9900
17:74695253:T:A	acceptor_loss	0.9900
17:74695723:A:AC	donor_gain	0.9900
17:74695724:C:CC	donor_gain	0.9900
17:74695736:ATT:A	donor_gain	0.9900
17:74695745:C:A	donor_gain	0.9900
17:74695775:T:TA	donor_gain	0.9900
17:74695860:C:CC	acceptor_gain	0.9900
17:74695866:C:CT	acceptor_gain	0.9900
17:74695867:A:T	acceptor_gain	0.9900
17:74696215:CTG:C	acceptor_gain	0.9900
17:74696218:C:CC	acceptor_gain	0.9900
17:74698368:CCTTT:C	donor_gain	0.9900
17:74698659:A:C	acceptor_gain	0.9900

AlphaMissense

1874 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:74704707:C:A	K51N	0.992
17:74704707:C:G	K51N	0.992
17:74704537:C:G	C108S	0.987
17:74704538:A:T	C108S	0.987
17:74704701:C:A	W53C	0.984
17:74704701:C:G	W53C	0.984
17:74704703:A:G	W53R	0.982
17:74704703:A:T	W53R	0.982
17:74704709:T:C	K51E	0.977
17:74704699:C:G	C54S	0.974
17:74704700:A:T	C54S	0.974
17:74704741:C:G	C40S	0.974
17:74704742:A:T	C40S	0.974
17:74704538:A:G	C108R	0.970
17:74704544:A:C	Y106D	0.969
17:74704708:T:G	K51T	0.969
17:74704610:C:G	D84H	0.968
17:74704588:A:G	F91S	0.964
17:74704742:A:G	C40R	0.961
17:74704698:A:C	C54W	0.956
17:74704609:T:G	D84A	0.955
17:74704498:A:T	V121D	0.954
17:74704704:C:A	W52C	0.951
17:74704704:C:G	W52C	0.951
17:74704582:A:T	V93E	0.950
17:74704675:C:G	C62S	0.950
17:74704676:A:T	C62S	0.950
17:74704543:T:C	Y106C	0.949
17:74704544:A:G	Y106H	0.949
17:74704700:A:G	C54R	0.949

dbSNP variants (sampled 300 via entrez): RS1000108071 (17:74714710 A>G), RS1000379274 (17:74709085 G>A), RS1000417750 (17:74703474 C>T), RS1000742501 (17:74698870 G>A,C), RS1001092834 (17:74698686 G>A,C), RS1001202246 (17:74708641 A>G), RS1001273753 (17:74714072 G>A,C), RS1001501306 (17:74698223 C>A,T), RS1001702730 (17:74702709 A>G), RS1001812803 (17:74698388 C>T), RS1001928709 (17:74704320 C>A,G,T), RS1001929045 (17:74698171 G>A,T), RS1002236674 (17:74708276 G>A,C), RS1002444759 (17:74704139 C>G), RS1002489277 (17:74696822 T>G)

Disease associations

OMIM: gene MIM:609807 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

23 associations (top):

Study	Trait	p-value
GCST000368_4	Fibrinogen	8.000000e-11
GCST002147_3	Fibrinogen	1.000000e-08
GCST004121_13	Fibrinogen levels	2.000000e-08
GCST004122_30	Fibrinogen levels	2.000000e-08
GCST004607_79	Plateletcrit	3.000000e-09
GCST004610_84	White blood cell count	9.000000e-14
GCST004613_59	Sum neutrophil eosinophil counts	3.000000e-09
GCST004614_66	Granulocyte count	3.000000e-09
GCST004620_101	Sum basophil neutrophil counts	4.000000e-09
GCST004625_248	Monocyte count	4.000000e-24
GCST004626_149	Myeloid white cell count	2.000000e-11
GCST004627_176	Lymphocyte count	4.000000e-09
GCST004629_35	Neutrophil count	5.000000e-09
GCST005196_226	Coronary artery disease	1.000000e-07
GCST007614_36	C-reactive protein levels	4.000000e-14
GCST007615_43	C-reactive protein levels	1.000000e-13
GCST007615_78	C-reactive protein levels	9.000000e-11
GCST008478_48	Neurological blood protein biomarker levels	3.000000e-77
GCST008478_49	Neurological blood protein biomarker levels	2.000000e-11
GCST90002393_611	Monocyte count	5.000000e-30
GCST90002400_230	Plateletcrit	5.000000e-18
GCST90002402_415	Platelet count	7.000000e-17
GCST90002407_146	White blood cell count	4.000000e-18

EFO canonical traits (9, from GWAS)

EFO ID	Trait name
EFO:0007985	platelet crit
EFO:0004833	neutrophil count
EFO:0004842	eosinophil count
EFO:0007987	granulocyte count
EFO:0005090	basophil count
EFO:0005091	monocyte count
EFO:0004587	lymphocyte count
EFO:0004458	C-reactive protein measurement
EFO:0004309	platelet count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

18 total (human), top 18 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Tobacco Smoke Pollution	affects expression, increases methylation	2
triphenyl phosphate	affects expression	1
sulforaphane	increases expression	1
S-(1,2-dichlorovinyl)cysteine	increases expression, affects response to substance	1
Am 580	increases expression	1
bisphenol S	decreases methylation	1
gardiquimod	decreases expression, decreases reaction	1
(+)-JQ1 compound	decreases expression	1
Rosiglitazone	increases expression	1
Benzo(a)pyrene	increases methylation	1
Cisplatin	increases expression	1
Hydrogen Peroxide	affects expression	1
Lipopolysaccharides	affects response to substance, increases expression, decreases expression	1
Tretinoin	increases expression	1
Valproic Acid	increases methylation	1
Antirheumatic Agents	decreases expression	1
beta-Naphthoflavone	decreases expression	1
Protein Kinase Inhibitors	decreases expression, decreases reaction	1

Clinical trials (associated diseases)

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