CSF3

Summary

CSF3 (colony stimulating factor 3, HGNC:2438) is a protein-coding gene on chromosome 17q21.1, encoding Granulocyte colony-stimulating factor (P09919). Granulocyte/macrophage colony-stimulating factors are cytokines that act in hematopoiesis by controlling the production, differentiation, and function of 2 related white cell populations of the blood, the granulocytes and the monocytes-macrophages.

This gene encodes a member of the IL-6 superfamily of cytokines. The encoded cytokine controls the production, differentiation, and function of granulocytes. Granulocytes are a type of white blood cell that are part of the innate immune response. A modified form of this protein is commonly administered to manage chemotherapy-induced neutropenia. Alternatively spliced transcript variants have been described for this gene.

Source: NCBI Gene 1440 — RefSeq curated summary.

At a glance

• GWAS associations: 37
• Clinical variants (ClinVar): 29 total
• MANE Select transcript: NM_172219

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:2438
Approved symbol	CSF3
Name	colony stimulating factor 3
Location	17q21.1
Locus type	gene with protein product
Status	Approved
Aliases	MGC45931
Ensembl gene	ENSG00000108342
Ensembl biotype	protein_coding
OMIM	138970
Entrez	1440

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 7 protein_coding, 2 retained_intron, 1 nonsense_mediated_decay

ENST00000225474, ENST00000331769, ENST00000394148, ENST00000394149, ENST00000479880, ENST00000577675, ENST00000579852, ENST00000582798, ENST00000583218, ENST00000945857

RefSeq mRNA: 4 — MANE Select: NM_172219 NM_000759, NM_001178147, NM_172219, NM_172220

CCDS: CCDS11357, CCDS11358, CCDS42314

Canonical transcript exons

ENST00000394149 — 5 exons

Exon	Start	End
ENSE00000000154	40015440	40015514
ENSE00001517624	40015691	40015845
ENSE00003653999	40016485	40016631
ENSE00003665120	40016233	40016340
ENSE00003900839	40016795	40017813

Expression profiles

Bgee: expression breadth ubiquitous, 168 present calls, max score 92.15.

FANTOM5 (CAGE): breadth broad, TPM avg 40.4409 / max 2203.3834, expressed in 556 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
160658	39.0474	526
160657	1.1277	207
160661	0.2340	123
160660	0.0319	9

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	92.15	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	91.22	gold quality
type B pancreatic cell	CL:0000169	88.66	gold quality
vena cava	UBERON:0004087	87.74	gold quality
olfactory bulb	UBERON:0002264	87.30	gold quality
cervix squamous epithelium	UBERON:0006922	85.74	gold quality
hindlimb stylopod muscle	UBERON:0004252	84.84	gold quality
triceps brachii	UBERON:0001509	84.61	gold quality
gastrocnemius	UBERON:0001388	83.73	gold quality
left uterine tube	UBERON:0001303	83.42	gold quality
cartilage tissue	UBERON:0002418	83.07	gold quality
diaphragm	UBERON:0001103	82.71	gold quality
tongue squamous epithelium	UBERON:0006919	81.24	gold quality
muscle of leg	UBERON:0001383	81.02	gold quality
gluteal muscle	UBERON:0002000	81.02	gold quality
vastus lateralis	UBERON:0001379	80.64	gold quality
muscle organ	UBERON:0001630	80.43	gold quality
upper lobe of left lung	UBERON:0008952	79.83	gold quality
quadriceps femoris	UBERON:0001377	79.61	gold quality
mucosa of paranasal sinus	UBERON:0005030	79.26	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	79.09	gold quality
parotid gland	UBERON:0001831	78.65	gold quality
right lung	UBERON:0002167	78.00	gold quality
upper lobe of lung	UBERON:0008948	77.96	gold quality
paraflocculus	UBERON:0005351	77.52	gold quality
skeletal muscle tissue	UBERON:0001134	77.43	gold quality
frontal pole	UBERON:0002795	77.40	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	76.64	gold quality
biceps brachii	UBERON:0001507	76.52	gold quality
middle frontal gyrus	UBERON:0002702	76.44	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-GEOD-130148	yes	4.87
E-HCAD-30	no	330.65
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CEBPB, CEBPD, CEBPG, EGR1, FOS, GFI1, HIF1A, HSF1, IRF1, IRF6, JUNB, MXD1, NFKB1, NFKB, POU2F2, PRDM16, RELA, RUNX1, SPI1, STAT3, STAT5A, TCF23, WT1

miRNA regulators (miRDB)

25 targeting CSF3, 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-4283	100.00	66.42	2097
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-3975	99.62	65.97	697
HSA-MIR-6132	99.60	65.83	1554
HSA-MIR-6836-5P	99.60	65.62	1538
HSA-MIR-4708-3P	99.51	67.99	870
HSA-MIR-6081	99.48	66.07	1446
HSA-MIR-6722-3P	99.45	67.62	1919
HSA-MIR-542-3P	99.34	67.58	1270
HSA-MIR-532-3P	99.34	65.76	1195
HSA-MIR-1264	99.25	66.81	1317
HSA-MIR-6837-5P	99.25	65.47	1632
HSA-MIR-4685-5P	99.25	65.99	1563
HSA-MIR-2355-5P	98.83	65.51	1589
HSA-MIR-935	98.82	69.36	1072
HSA-MIR-4501	98.72	67.19	921
HSA-MIR-4274	98.59	66.10	630
HSA-MIR-3188	98.58	65.60	878
HSA-MIR-2467-5P	97.36	67.71	991
HSA-MIR-339-5P	96.73	66.01	820
HSA-MIR-3976	96.67	67.79	1187
HSA-MIR-4433B-5P	95.91	66.56	727

Literature-anchored findings (GeneRIF, showing 40)

• Effect of in vivo infusion of granulocyte colony-stimulating factor on immune function. (PMID:11795665)
• Induces autocrine production of epithelial cell-derived neutrophil attractant-78 in neutrophils. (PMID:11861308)
• effect of recombinant human GCSF on dendritic cell populations in mouse spleen (PMID:11877288)
• G-CSF can induce in vitro and in vivo differentiation of M2 AML t(8;21) cells. (PMID:11920209)
• Stabilizing the native state of recombinant GCSF under physiological conditions using thermodynamic stabilizers, especially high-affinity ligands binding to the native state, inhibits aggregation occurring under structurally nonperturbing conditions. (PMID:12009905)
• G-CSF increases neutrophil function in patients with severe sepsis and septic shock (PMID:12027409)
• expression in airway epithelial cells by interleukin-17 (PMID:12034575)
• Review. The synergy of granulocyte colony-stimulating factor with stem cell factor results in important biologic responses such as the down-regulation of p27kip1 and the independent phosphorylation of STAT3 on tyrosine and serine residues. (PMID:12152985)
• inhibits spontaneous cytochrome c release and mitochondria-dependent apoptosis of myelodysplastic syndrome hematopoietic progenitors. (PMID:12393561)
• Enhanced PMN survival was attributed to effects of epithelial G-CSF and granulocyte-macrophage colony-stimulating factor expression, which inhibit PMN apoptosis.Both CF and normal cells responded to bacteria with increased cytokine production (PMID:12397015)
• results demonstrate that G-CSF is produced in the human follicle shortly before the ovulatory phase and may play an important role in the mechanism of ovulation (PMID:12456601)
• granulocyte colony-stimulating factor decreased platelet-activating factor acetylhydrolase secretion by decidual macrophages (PMID:12548211)
• G-CSF-mediated antiapoptosis is mediated through protein synthesis-dependent mechanisms and involves the Janus kinase-STAT pathway. (PMID:12568301)
• In the presence of ATRA, G-CSF enhanced superoxide release stimulated by the chemotactic peptide, enhanced survival during differentiation, regulated chemotactic peptide receptors CD33 and CD10 but not of CD11b and CD11c. (PMID:12627849)
• Endogenous G-CSF levels in chemotherapy-induced neutropenia are significantly higher than non-chemotherapy related neutropenia and controls. (PMID:12636092)
• The induction of GATA-3, the master transcription factor for a Th2 immune response, can be demonstrated in T cells upon G-CSF treatment in vivo accompanied by an increase of spontaneous IL-4 secretion. G-CSF is a strong immune regulator of T cells. (PMID:12676791)
• tertiary structural perturbations in G-CSF suggest the presence of an intermediate state and possible relation to ligand binding and endocytic trafficking (PMID:12717025)
• Conformation change of an epitope of the granulocyte-colony stimulating factor after binding to receptors. (PMID:12946100)
• TNF, GM-CSF, and G-CSF induce actin depolymerization and morphological changes through activation of ERK and/or p38 MAPK, and cytokine-induced actin reorganization may affect inhibitory effect of these cytokines on neutrophil chemotaxis. (PMID:12954601)
• G-CSF expression in some bladder cancers appears to be an early event during malignant transformation that increases beta1-integrin expression and adhesion and thereby may promote tissue invasion. (PMID:14751388)
• significant associations of endogenous G-CSF levels with inflammatory mediators early in the development of severe lung injury suggest an endogenous anti-inflammatory role of G-CSF in vivo (PMID:14769149)
• The significantly higher level of G-CSF in follicular fluid (FF) than in serum and the expression of G-CSF and its receptor in FF by granulosa cells suggest an important role for this growth factor in ovarian function. (PMID:15019810)
• G-CSF appears to be a suppressor of antitumor immunity (PMID:15214947)
• G-CSF is associated with the expression of proliferation vascularization in memingioma. (PMID:15218949)
• The G-CFS may provide clinically useful information, particularly regarding prognosis and response to treatment. (PMID:15576295)
• G-CSF, a promoter of tolerogenic dendritic cells, may be evaluated for the treatment of human type 1 diabetes (PMID:15616013)
• Serum G-CSF levels in 70.4% (38 of 54 cases) of the chronic aplastic anemiapatients were increased (272.76 +/- 58.39ng/L) (PMID:15622763)
• one of the major roles of Stat3 in the G-CSF signaling pathway is to augment the function of C/EBPalpha, which is essential for myeloid differentiation (PMID:15664994)
• osteoblast activity, as measured by histomorphometry and osteocalcin expression, is strongly down-regulated during G-CSF treatment (PMID:16037394)
• Correlation between endogenous G-CSF and CD34(+) cell levels supports the administration of G-CSF as an option for regeneration of myocardial tissue after acute myocardial infarct. (PMID:16051386)
• Protein kinase C plays a role in activation of granulocyte-colony stimulating factor in lung cancer. (PMID:16211258)
• crystal structure of the signaling complex between human granulocyte colony-stimulating factor (GCSF) and a ligand binding region of GCSF receptor (GCSF-R), has been determined to 2.8 A resolution (PMID:16492764)
• PAR2-driven upregulation of VCAM-1 cell surface expression and the release of IL-8 and G-CSF from bronchial fibroblasts may be important in promoting neutrophilic airways inflammation. (PMID:16498082)
• monocytes mobilized into the blood by G-CSF or AMD3100 stimulate angiogenesis at sites of ischemia through a paracrine mechanism (PMID:16735597)
• It appears that G-CSF mobilizes more CD34(+) cells, mature Dendritic cellswithin the same donor than does GM-CSF. (PMID:16822885)
• A progression-promoting effect of G-CSF and GM-CSF in human head and neck squamous cell carcinomas. (PMID:16912178)
• G-CSF has a role in the induction of E-selectin ligands on myeloid cells, thus providing mechanistic insight into the pathobiology of G-CSF complications (PMID:16980970)
• The observed up-regulation of G-CSF points towards a role in the pathophysiology of human ischemic stroke. (PMID:17047971)
• A comparison of the relative rates of oxidation of methionine residues in short peptides with those of corresponding methionine residues in recombinant human G-CSF yields an understanding of how protein tertiary structure affects oxidation reactions. (PMID:17176065)
• G-CSF and GM-CSF might accelerate tumor progression by directly regulating COX-2 expression, independently of an autocrine mechanism. (PMID:17342342)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	csf3b	ENSDARG00000098752
danio_rerio	csf3a	ENSDARG00000102211
mus_musculus	Csf3	ENSMUSG00000038067
rattus_norvegicus	Csf3	ENSRNOG00000008525

Protein

Protein identifiers

Granulocyte colony-stimulating factor — P09919 (reviewed: P09919)

Alternative names: Pluripoietin

All UniProt accessions (6): P09919, J3KTH8, J3QRD4, J3QRX2, Q6FH65, Q8N4W3

UniProt curated annotations — full annotation on UniProt →

Function. Granulocyte/macrophage colony-stimulating factors are cytokines that act in hematopoiesis by controlling the production, differentiation, and function of 2 related white cell populations of the blood, the granulocytes and the monocytes-macrophages. This CSF induces granulocytes.

Subunit / interactions. Monomer.

Subcellular location. Secreted.

Post-translational modifications. O-glycan consists of Gal-GalNAc disaccharide which can be modified with up to two sialic acid residues (done in recombinantly expressed G-CSF from CHO cells).

Similarity. Belongs to the IL-6 superfamily.

Isoforms (3)

UniProt ID	Names	Canonical?
P09919-1	Long	yes
P09919-2	Short
P09919-3	3

RefSeq proteins (4): NP_000750, NP_001171618, NP_757373, NP_757374 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR009079	4_helix_cytokine-like_core	Homologous_superfamily
IPR030473	IL6/GCSF/MGF_CS	Conserved_site
IPR030474	IL-6/GCSF/MGF	Family
IPR040117	GCSF/MGF	Family

Pfam: PF16647

UniProt features (21 total): helix 6, strand 3, turn 3, disulfide bond 2, splice variant 2, sequence variant 2, signal peptide 1, chain 1, glycosylation site 1

Structure

Experimental structures (PDB)

7 structures.

PDB	Method	Resolution (Å)
5GW9	X-RAY DIFFRACTION	1.65
5ZO6	X-RAY DIFFRACTION	1.7
1RHG	X-RAY DIFFRACTION	2.2
1CD9	X-RAY DIFFRACTION	2.8
2D9Q	X-RAY DIFFRACTION	2.8
1PGR	X-RAY DIFFRACTION	3.5
1GNC	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P09919-F1	84.67	0.56

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 (2): 69–75, 97–107

Glycosylation sites (1): 166

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-449836	Other interleukin signaling
R-HSA-6783783	Interleukin-10 signaling
R-HSA-9674555	Signaling by CSF3 (G-CSF)
R-HSA-9705462	Inactivation of CSF3 (G-CSF) signaling

MSigDB gene sets: 298 (showing top): GOBP_MYELOID_CELL_DIFFERENTIATION, GSE45365_NK_CELL_VS_CD11B_DC_DN, GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_UP, MODULE_92, AP1_01, GOBP_RESPONSE_TO_ETHANOL, GOBP_REGULATION_OF_PROTEIN_POLYMERIZATION, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, GOBP_RESPONSE_TO_PEPTIDE, GOBP_CELLULAR_RESPONSE_TO_LIPID, GOBP_CELLULAR_RESPONSE_TO_BIOTIC_STIMULUS, MODULE_64, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GOMF_GROWTH_FACTOR_ACTIVITY, GOBP_MYELOID_LEUKOCYTE_DIFFERENTIATION

GO Biological Process (14): immune response (GO:0006955), positive regulation of cell population proliferation (GO:0008284), cytokine-mediated signaling pathway (GO:0019221), positive regulation of actin filament polymerization (GO:0030838), granulocyte differentiation (GO:0030851), granulocyte colony-stimulating factor signaling pathway (GO:0038158), response to ethanol (GO:0045471), positive regulation of myeloid cell differentiation (GO:0045639), positive regulation of transcription by RNA polymerase II (GO:0045944), positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction (GO:0051897), cellular response to lipopolysaccharide (GO:0071222), cellular response to cytokine stimulus (GO:0071345), regulation of actin filament organization (GO:0110053), signal transduction (GO:0007165)

GO Molecular Function (6): cytokine activity (GO:0005125), granulocyte colony-stimulating factor receptor binding (GO:0005130), growth factor activity (GO:0008083), enzyme binding (GO:0019899), signaling receptor binding (GO:0005102), protein binding (GO:0005515)

GO Cellular Component (4): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), lysosomal lumen (GO:0043202), endocytic vesicle lumen (GO:0071682)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Signaling by Interleukins	2
Cytokine Signaling in Immune system	1
Signaling by CSF3 (G-CSF)	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
receptor ligand activity	2
protein binding	2
immune system process	1
response to stimulus	1
cell population proliferation	1
regulation of cell population proliferation	1
positive regulation of cellular process	1
cell surface receptor signaling pathway	1
cellular response to cytokine stimulus	1
actin filament polymerization	1
regulation of actin filament polymerization	1
positive regulation of protein polymerization	1
positive regulation of cytoskeleton organization	1
positive regulation of supramolecular fiber organization	1
myeloid leukocyte differentiation	1
cytokine-mediated signaling pathway	1
response to alcohol	1
myeloid cell differentiation	1
positive regulation of cell differentiation	1
regulation of myeloid cell differentiation	1
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
positive regulation of DNA-templated transcription	1
phosphatidylinositol 3-kinase/protein kinase B signal transduction	1
regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	1
positive regulation of intracellular signal transduction	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 cytokine	1
actin filament organization	1
regulation of actin cytoskeleton organization	1
regulation of supramolecular fiber organization	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
cytokine receptor binding	1

Protein interactions and networks

STRING

3386 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CSF3	CSF3R	Q99062	999
CSF3	CSF2	P04141	998
CSF3	CCL11	P50877	995
CSF3	IL1B	P01584	993
CSF3	IFNG	P01579	989
CSF3	IL1A	P01583	983
CSF3	IL6	P05231	972
CSF3	JAK2	O60674	968
CSF3	IL3	P08700	961
CSF3	IL2	P01585	960
CSF3	FGF2	P09038	960
CSF3	FLT3LG	P49771	960
CSF3	EGF	P01133	957
CSF3	FGF13	Q92913	951
CSF3	CXCL8	P10145	945

IntAct

2 interactions, top by confidence:

A	B	Type	Score
CSF3	PTPRG	psi-mi:“MI:0914”(association)	0.350

BioGRID (12): TBX3 (Two-hybrid), PARVG (Two-hybrid), PTPRG (Affinity Capture-MS), MYO18A (Affinity Capture-MS), COL14A1 (Affinity Capture-MS), PTPRJ (Affinity Capture-MS), SCARB1 (Affinity Capture-MS), AHNAK2 (Affinity Capture-MS), NRN1 (Affinity Capture-MS), S100P (Reconstituted Complex), S100A6 (Reconstituted Complex), CSF3 (Affinity Capture-MS)

ESM2 similar proteins: A3FFS8, O02708, O02837, P01588, P07321, P07865, P09919, P09920, P13725, P13854, P29676, P33707, P33708, P33709, P35833, P35834, P48617, P49157, P53346, P83714, Q0Z956, Q13007, Q28513, Q28746, Q4T554, Q4VK74, Q5IGQ0, Q5S1V9, Q64FU1, Q65Z15, Q6H8S9, Q6H8T0, Q6H8T1, Q6H8T2, Q6JV22, Q6LA37, Q6UXV1, Q867B1, Q8CGK6, Q8IU54

Diamond homologs: O02708, O02837, P09919, P09920, P13854, P35833, P35834, Q28746

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
CSF3	up-regulates	CSF3R	binding
CSF3	up-regulates	CSF2RA	binding
CSF3	up-regulates	Angiogenesis

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	20
Likely benign	0
Benign	6

Top pathogenic / likely-pathogenic (0)

SpliceAI

401 predictions. Top by Δscore:

Variant	Effect	Δscore
17:40015510:GATGG:G	donor_gain	1.0000
17:40015842:GCTG:G	donor_gain	1.0000
17:40015843:CTGGT:C	donor_loss	1.0000
17:40015844:TGG:T	donor_loss	1.0000
17:40015845:GGT:G	donor_loss	1.0000
17:40015846:G:GG	donor_gain	1.0000
17:40015846:G:T	donor_loss	1.0000
17:40015847:T:TG	donor_loss	1.0000
17:40015848:G:GG	donor_loss	1.0000
17:40016230:CAGTG:C	acceptor_loss	1.0000
17:40016231:A:AG	acceptor_gain	1.0000
17:40016231:AG:A	acceptor_loss	1.0000
17:40016231:AGT:A	acceptor_gain	1.0000
17:40016231:AGTGT:A	acceptor_gain	1.0000
17:40016232:G:GC	acceptor_gain	1.0000
17:40016232:GT:G	acceptor_gain	1.0000
17:40016232:GTG:G	acceptor_gain	1.0000
17:40016232:GTGT:G	acceptor_gain	1.0000
17:40016232:GTGTG:G	acceptor_gain	1.0000
17:40016337:GCTG:G	donor_gain	1.0000
17:40016338:CTGGT:C	donor_loss	1.0000
17:40016339:TGGTG:T	donor_loss	1.0000
17:40016340:GGTG:G	donor_loss	1.0000
17:40016341:G:C	donor_loss	1.0000
17:40016341:G:GG	donor_gain	1.0000
17:40016342:T:G	donor_loss	1.0000
17:40016353:A:T	donor_gain	1.0000
17:40016480:CACA:C	acceptor_loss	1.0000
17:40016483:A:AG	acceptor_gain	1.0000
17:40016483:AG:A	acceptor_gain	1.0000

AlphaMissense

1301 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:40016864:T:C	F177L	0.977
17:40016866:C:A	F177L	0.977
17:40016866:C:G	F177L	0.977
17:40016865:T:G	F177C	0.968
17:40015777:T:C	F43L	0.960
17:40015779:C:A	F43L	0.960
17:40015779:C:G	F43L	0.960
17:40016294:T:C	I89T	0.949
17:40016904:T:C	L190P	0.941
17:40016892:T:A	V186D	0.940
17:40016251:T:A	C75S	0.939
17:40016252:G:C	C75S	0.939
17:40016912:T:C	F193L	0.926
17:40016914:C:A	F193L	0.926
17:40016914:C:G	F193L	0.926
17:40015778:T:G	F43C	0.925
17:40016865:T:C	F177S	0.925
17:40016251:T:C	C75R	0.924
17:40016524:T:G	Y118D	0.920
17:40016252:G:A	C75Y	0.917
17:40016253:C:G	C75W	0.912
17:40016609:T:C	F146S	0.908
17:40016516:T:A	L115H	0.907
17:40015778:T:C	F43S	0.903
17:40016491:T:C	C107R	0.903
17:40016516:T:C	L115P	0.901
17:40016611:G:C	A147P	0.896
17:40016913:T:C	F193S	0.894
17:40016871:G:C	R179P	0.893
17:40016600:T:A	V143D	0.888

dbSNP variants (sampled 300 via entrez): RS1001463387 (17:40017997 C>A,G), RS1001850784 (17:40018271 G>A), RS1002540759 (17:40013904 C>A), RS1002600196 (17:40017941 G>C), RS1002919825 (17:40014210 A>C), RS1002970597 (17:40013998 T>G), RS1003261856 (17:40015181 A>G), RS1003305905 (17:40014979 T>G), RS1004153188 (17:40017430 T>G), RS1004925415 (17:40013894 T>C,G), RS1005155879 (17:40013862 A>C), RS1005267257 (17:40014706 G>A), RS1005343202 (17:40013702 G>A), RS1005373503 (17:40014781 G>A,T), RS1005668989 (17:40014935 C>T)

Disease associations

OMIM: gene MIM:138970 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

37 associations (top):

Study	Trait	p-value
GCST000589_4	White blood cell count	3.000000e-14
GCST000600_2	Neutrophil count	6.000000e-10
GCST001134_16	White blood cell types	4.000000e-16
GCST001137_10	White blood cell count	9.000000e-35
GCST001137_8	White blood cell count	2.000000e-31
GCST002318_118	Rheumatoid arthritis	6.000000e-10
GCST002318_70	Rheumatoid arthritis	2.000000e-12
GCST002557_5	Neutrophil count	3.000000e-23
GCST002557_6	Neutrophil count	1.000000e-10
GCST004126_2	White blood cell count	9.000000e-11
GCST004128_2	White blood cell count (neutrophil)	5.000000e-11
GCST004608_124	Granulocyte percentage of myeloid white cells	8.000000e-13
GCST004610_82	White blood cell count	1.000000e-11
GCST004613_65	Sum neutrophil eosinophil counts	1.000000e-17
GCST004614_61	Granulocyte count	2.000000e-17
GCST004620_30	Sum basophil neutrophil counts	6.000000e-17
GCST004626_143	Myeloid white cell count	6.000000e-191
GCST004626_144	Myeloid white cell count	4.000000e-16
GCST004629_152	Neutrophil count	6.000000e-17
GCST004632_5	Lymphocyte percentage of white cells	6.000000e-12
GCST004633_123	Neutrophil percentage of white cells	1.000000e-13
GCST005973_15	White blood cell count	9.000000e-62
GCST006014_25	Creatine kinase levels	3.000000e-09
GCST006959_149	Rheumatoid arthritis	3.000000e-13
GCST006959_19	Rheumatoid arthritis	2.000000e-09
GCST007399_2	Mitochondrial DNA copy number	2.000000e-07
GCST008103_61	Bipolar disorder	6.000000e-07
GCST008571_1	Composite immunoglobulin trait (IgA x IgG)	6.000000e-08
GCST008916_21	Asthma	2.000000e-62
GCST008916_36	Asthma	6.000000e-13

EFO canonical traits (9, from GWAS)

EFO ID	Trait name
EFO:0004833	neutrophil count
EFO:0007997	granulocyte percentage of myeloid white cells
EFO:0004842	eosinophil count
EFO:0007987	granulocyte count
EFO:0005090	basophil count
EFO:0007993	lymphocyte percentage of leukocytes
EFO:0007990	neutrophil percentage of leukocytes
EFO:0004534	creatine kinase measurement
EFO:0006312	mitochondrial DNA measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Particulate Matter	decreases expression, increases reaction, affects expression, decreases secretion, affects cotreatment (+5 more)	8
Lipopolysaccharides	decreases reaction, increases secretion, increases expression, affects cotreatment	5
Estradiol	affects expression, affects cotreatment, increases expression	4
Tretinoin	decreases reaction, decreases uptake, increases expression, increases reaction, decreases expression	4
nickel chloride	affects cotreatment, increases secretion, increases expression, increases reaction	3
Vehicle Emissions	increases expression, affects expression, affects cotreatment, decreases abundance, decreases expression (+1 more)	3
Cannabidiol	decreases reaction, increases expression	3
Dust	decreases expression, increases expression, increases secretion	3
Silicon Dioxide	increases expression, increases secretion	3
Tobacco Smoke Pollution	increases secretion, affects expression, increases expression	3
Asbestos, Crocidolite	decreases reaction, increases expression, increases secretion	3
titanium dioxide	affects binding, increases secretion, affects expression	2
sodium arsenite	increases expression	2
3,4,5,3’,4’-pentachlorobiphenyl	increases expression	2
Resveratrol	decreases reaction, increases expression	2
Arsenic Trioxide	decreases uptake, increases expression, increases response to substance, increases reaction, increases uptake (+1 more)	2
Air Pollutants	increases abundance, increases expression	2
Benzo(a)pyrene	affects methylation, increases expression	2
Endosulfan	decreases expression, increases expression	2
Tetradecanoylphorbol Acetate	affects cotreatment, increases expression, affects expression	2
Asbestos, Serpentine	increases expression, increases secretion	2
Silver Compounds	affects binding, increases secretion, affects cotreatment, increases expression	2
Cadmium Chloride	increases expression	2
Interleukin 1 Receptor Antagonist Protein	decreases reaction, increases secretion, decreases secretion	2
Glupearl 19S	increases expression	1
sotorasib	decreases expression, affects cotreatment	1
TL8-506	affects cotreatment, increases expression	1
7-ketocholesterol	increases expression, decreases reaction	1
2-anisidine	affects expression	1
propionaldehyde	increases expression	1

Cellosaurus cell lines

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

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

Cellosaurus	Name	Category	Sex
CVCL_6G75	IA1-7	Spontaneously immortalized cell line	Female
CVCL_B0ZB	Abcam K-562 CSF3 KO	Cancer cell line	Female
CVCL_B6BP	MSC G-CSF#1	Finite cell line	Male
CVCL_B6BQ	MSC G-CSF#2	Finite cell line	Male

Clinical trials (associated diseases)

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