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The protein encoded by this gene is the receptor for colony stimulating factor 3, a cytokine that controls the production, differentiation, and function of granulocytes. The encoded protein, which is a member of the family of cytokine receptors, may also function in some cell surface adhesion or recognition processes. Alternatively spliced transcript variants have been described. Mutations in this gene are a cause of Kostmann syndrome, also known as severe congenital neutropenia. [provided by RefSeq, Aug 2010]
CSF3R (Colony Stimulating Factor 3 Receptor) is a Protein Coding gene. Diseases associated with CSF3R include Neutropenia, Severe Congenital, 7, Autosomal Recessive and Neutrophilia, Hereditary. Among its related pathways are AKT Siganaling Pathway and Hematopoietic cell lineage. Gene Ontology (GO) annotations related to this gene include cytokine receptor activity. An important paralog of this gene is IL6ST.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004896 | cytokine receptor activity | IBA | 21873635 |
GO:0005515 | protein binding | IPI | 9864141 |
GO:0019955 | cytokine binding | IBA | 21873635 |
GO:0038023 | signaling receptor activity | TAS | 7542747 |
GO:0051916 | granulocyte colony-stimulating factor binding | IEA,IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | IEA | -- |
GO:0005886 | plasma membrane | TAS | -- |
GO:0005887 | integral component of plasma membrane | TAS | 7542747 |
GO:0009897 | external side of plasma membrane | IBA | 21873635 |
GO:0016020 | membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Akt Signaling |
Akt Signaling
.60
p38 Signaling
.60
|
Tec Kinases Signaling
.55
|
2 | PEDF Induced Signaling |
STAT3 Pathway
.47
|
|
3 | Cytokine Signaling in Immune system | ||
4 | Hematopoietic cell lineage | ||
5 | JAK-STAT signaling pathway |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006952 | defense response | TAS | 7542747 |
GO:0007155 | cell adhesion | IEA | -- |
GO:0007165 | signal transduction | NAS | 1371413 |
GO:0019221 | cytokine-mediated signaling pathway | TAS | -- |
GO:0030593 | neutrophil chemotaxis | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Filgrastim | Approved | Pharma | Target, stimulator, binder | 0 | ||
Pegfilgrastim | Approved | Pharma | Target, agonist, binder | 0 | ||
Lenograstim | Approved, Investigational | Pharma | Target, agonist | 1339 | ||
Lipegfilgrastim | Approved, Investigational | Pharma | Target, agonist | 0 | ||
FavId | Investigational | Pharma | Target | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | · | 12c | ^ | 13a | · | 13b | ^ | 14a | · | 14b | ^ | 15 | ^ | 16a | · | 16b | · | 16c | · | 16d | ^ | 17a | · |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP11: |
ExUns: | 17b |
---|---|
SP1: | |
SP2: | |
SP3: | |
SP4: | |
SP5: | |
SP6: | |
SP7: | |
SP8: | |
SP9: | |
SP10: | |
SP11: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CSF3R 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CSF3R 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CSF3R 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Csf3r 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Csf3r 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | CSF3R 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | CSF3R 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CSF3R 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CSF3R 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100498116 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | csf3r 30 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
581488 | Uncertain Significance: Neutropenia, severe congenital, 7, autosomal recessive | 36,471,464(-) | AC/GT | MISSENSE_VARIANT | |
636923 | Uncertain Significance: not provided | 36,466,501(-) | G/A | SYNONYMOUS_VARIANT,INTRON_VARIANT | |
641452 | Uncertain Significance: Neutropenia, severe congenital, 7, autosomal recessive | 36,471,603(-) | A/T | MISSENSE_VARIANT | |
643048 | Uncertain Significance: Neutropenia, severe congenital, 7, autosomal recessive | 36,473,820(-) | C/A | MISSENSE_VARIANT | |
648745 | Uncertain Significance: Neutropenia, severe congenital, 7, autosomal recessive | 36,469,727(-) | G/A | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
neutropenia, severe congenital, 7, autosomal recessive |
|
|
neutrophilia, hereditary |
|
|
severe congenital neutropenia |
|
|
chronic neutrophilic leukemia |
|
|
atypical chronic myeloid leukemia |
|
|