CSF3R - colony stimulating factor 3 receptor Gene

Also Known as SCN7; CD114; GCSFR

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1441

About CSF3R

Cytogenetic location: 1p34.3 Genomic coordinates (GRCh38): 1:36,466,043-36,483,314 (from NCBI)

This gene has 18 transcripts (splice variants), 199 orthologues, 23 paralogues and is associated with 92 phenotypes. Biased expression in bone marrow (RPKM 133.9), appendix (RPKM 79.2) and 5 other tissues.

Summary

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 Products (3)

mRNA	Protein	Name
NM_000760.4	NP_000751.1	granulocyte colony-stimulating factor receptor isoform a precursor
NM_156039.3	NP_724781.1	granulocyte colony-stimulating factor receptor isoform c precursor
NM_172313.3	NP_758519.1	granulocyte colony-stimulating factor receptor isoform d precursor

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Références	Source
enables protein binding	IPI IPI: Inferred from physical interaction	9864141	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CSF3R Protein Structure

Lep_receptor_Ig

fn3

0
200
400
600
836 a.a.

Protein Preferred Names	Protein Names
granulocyte colony-stimulating factor receptor	CD114 antigen

CSF3R Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Références
Intra	CSF3R	Q99062	STAT3	Homo sapiens	P40763	Pull Down	9864141

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant CSF3R Proteins

Cat. No.	Nom du produit	Accession	Pureté
HY-P72634	G-CSFR/CD114 Protein, Human (HEK293, Fc)	Q99062-1 (E25-H627)	≥ 95%, as determined by reducing SDS-PAGE.
HY-P75692	G-CSFR/CD114 Protein, Human (HEK293)	Q99062-1/NP_000751.1 (E25-P621)	≥ 95%, as determined by reducing SDS-PAGE.
HY-P75694	G-CSFR/CD114 Protein, Human (HEK293, His)	Q99062-1 (E25-H627)	≥ 95%, as determined by reducing SDS-PAGE.
HY-P700528	G-CSFR/CD114 Protein, Human (HEK293, His-Flag)	Q99062 (E25-P621)	≥ 90%, as determined by reducing SDS-PAGE.

CSF3R Anticorps

Cat. No.	Nom du produit	Application	Reactivity
HY-P83628	G-CSF Receptor Antibody (YA3373)	WB, FC	Human
HY-P84744	G-CSF Receptor Antibody (YA4441)	WB, IHC-P, FC, ELISA	Human
HY-P84744A	G-CSF Receptor Antibody (YA4441)(PBS only)	WB, IHC-P, FC, ELISA	Human

Related Diseases

Diseases	Alias
Neutrophilia, Hereditary	Hereditary Neutrophilia NEUTROPHILIA Leukocytosis Disorders With Increased Neutrophil Counts
Neutropenia, Severe Congenital, 7, Autosomal Recessive	SCN7 Neutropenia, Severe Congenital 7, Autosomal Recessive
Severe Congenital Neutropenia 7	Autosomal Recessive Severe Congenital Neutropenia Due To Csf3r Deficiency Scn7
Severe Congenital Neutropenia	Congenital Neutropenia Neutropenia, Severe Congenital Congenital Agranulocytosis Infantile Genetic Agranulocytosis Kostmann Disease Kostmann'S Agranulocytosis Kostmann'S Syndrome Severe Infantile Genetic Neutropenia
Chronic Neutrophilic Leukemia	Cnl Leukemia Neutrophilic Chronic
Atypical Chronic Myeloid Leukemia, Bcr-Abl1 Negative	Atypical Chronic Myeloid Leukemia Atypical Chronic Myeloid Leukaemia Leukemia, Myeloid, Chronic, Atypical, Bcr-Abl Negative Acml Atypical Chronic Myeloid Leukaemia Bcr-Abl1 Negative Atypical Chronic Myeloid Leukemia Bcr-Abl1 Negative Atypical Cml Subacute Myeloid Leukemia Subacute Myelogenous Leukaemia Subacute Myeloid Leukaemia Subacute Myelosis Atypical Chronic Myeloid Leukaemia, Bcr-Abl-Negative Without Mention Of Remission Subacute Monocytic Leukaemia Without Mention Of Remission Subacute Monocytic Leukaemia
Neutropenia	Leukopenia
Chronic Myelogenous Leukemia, Bcr-Abl1 Positive	Chronic Myelogenous Leukemia, Bcr/Abl Positive Chronic Myelosis Chronic Myeloid Leukaemia, Bcr-Abl-Positive Without Mention Of Remission
Leukemia, Chronic Myeloid	Chronic Myeloid Leukemia Chronic Myelogenous Leukemia CML Chronic Granulocytic Leukemia Leukemia, Philadelphia Chromosome-Positive, Resistant To Imatinib Chronic Myeloid Leukaemia Chronic Granulocytic Leukaemia Chronic Myelogenous Leukaemia Myeloid Leukemia, Chronic Leukemia, Chronic Myelogenous Leukemia, Chronic Myeloid, Philadelphia Chromosome Positive, Somatic Cml - Chronic Myelogenous Leukemia Cgl Chronic Myelocytic Leukemia Leukemia, Chronic Myeloid, Atypical ACML Atypical Chronic Myeloid Leukemia Bcr-Abl1 Negative Myeloid Leukemia Chronic Leukemia, Myeloid, Chronic Leukemia, Myeloid, Chronic, Atypical, Bcr-Abl Negative Cml- [Chronic Myeloid Leukaemia] Cgl - [Chronic Granulocytic Leukaemia] Chronic Myelocytic Leukaemia
Chronic Myelomonocytic Leukemia	Leukemia, Myelomonocytic, Chronic Cmml Leukemia Myelomonocytic Chronic Cmml - [Chronic Myelomonocytic Leukaemia] Chronic Myelomonocytic Leukaemia Without Mention Of Remission Chronic Monocytic Leukaemia Chronic Monocytoid Leukaemia
Myeloid Leukemia	Myeloid Leukaemia Leukaemia Myelogenous Leukemia Myelogenous Myeloid Granulocytic Leukaemia Myeloid Granulocytic Leukemia Non-Lymphocytic Leukemia Leukemia, Myeloid Granulocytic Leukaemia Myelogenous Leukaemia Myeloid Leukaemia, Unspecified, Without Mention Of Remission
Leukemia	Leukemias Leukaemia, Unspecified, Without Mention Of Remission Aleukemic Leukaemia Chronic Leukaemia Subacute Leukaemia Leukaemia Disorder Leukaemia Nos
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Kostmann Disease SCN3 Neutropenia, Severe Congenital 3, Autosomal Recessive Agranulocytosis Infantile Agranulocytosis, Infantile Severe Congenital Neutropenia Autosomal Recessive 3 Neutropenia, Severe Congenital, Autosomal Recessive 3 Kostmanns Syndrome Neutropenia, Congenital, Severe, Type 3, Autosomal Recessive Severe Congenital Neutropenia
Leukemia, Acute Myeloid	Acute Myeloid Leukemia Leukemia, Acute Myelogenous Acute Myelogenous Leukemia AML Leukemia, Acute Myeloid, Susceptibility To Acute Myeloblastic Leukemia Leukemia, Acute Myeloid, Reduced Survival In, Somatic Acute Myeloid Leukaemia Leukemia, Myelocytic, Acute Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome Secondary Aml Acute Myelocytic Leukemia Acute Myeloid Leukemia, Somatic Leukemia, Acute Myeloid, Somatic Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic Acute Myeloblastic Leukaemia Acute Myelogenous Leukaemia Aml - Acute Myeloid Leukemia Acute Myeloid Leukemia With Cebpa Somatic Mutations Aml With Cebpa Somatic Mutations Inherited Acute Myeloid Leukemia Familial Aml Inherited Aml Pure Familial Aml Pure Familial Acute Myeloid Leukemia Secondary Acute Myeloid Leukemia Therapy-Related Aml And Myelodysplastic Syndrome Acute Myeloid Leukemia, Secondary Acute Non-Lymphoblastic Leukemia Acute Non-Lymphocytic Leukemia Acute Biphenotypic Leukemia Acute Undifferentiated Leukemia Acute Myeloblastic Leukaemia With Multilineage Dysplasia Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission Acute Myeloid Leukaemia With Myelodysplasia-Related Features
Myelodysplastic Syndrome	Myelodysplastic Syndromes Myelodysplasia MDS Myelodysplastic Syndrome Included Myelodysplastic Syndrome, Susceptibility To, Included Myelodysplastic Syndrome, Somatic Myelodysplastic Syndrome, Susceptibility To
Stress Polycythemia	Gaisbock'S Syndrome Polycythemia, Emotional Pseudopolycythaemia Gaisboeck'S Syndrome Pseudopolycythemia Gaisbock Syndrome Stress Erythrocytosis Pseudo-Polycythemia Relative Erythrocytosis
Myelodysplastic/Myeloproliferative Neoplasm	Myelodysplastic-Myeloproliferative Diseases Myelodysplastic/Myeloproliferative Disease Myelodysplastic Myeloproliferative Cancer Myelodysplastic Myeloproliferative Disease Myeloproliferative/Myelodysplastic Syndromes
Paroxysmal Nocturnal Hemoglobinuria	Marchiafava-Micheli Disease Pnh Hemoglobinuria, Paroxysmal Marchiafava-Micheli Syndrome Paroxysmal Hemoglobinuria Nocturnal Nocturnal Haemoglobinuria Nocturnal Paroxysmal Haematuria Nocturnal Paroxysmal Haemoglobinaemia
Acute Leukemia	Stem Cell Leukaemia Stem Cell Leukemia Acute Leukemias Acute Undifferentiated Leukemia Undifferentiated Leukemia Acute Leukaemia Of Unspecified Cell Type Without Mention Of Remission Blast Cell Leukaemia Blast Leukaemia Blastic Leukaemia Undifferentiated Leukaemia
Acute Promyelocytic Leukemia	Leukemia, Acute Promyelocytic Acute Myeloblastic Leukemia Type 3 Aml M3 APL Leukemia, Acute Promyelocytic, Somatic Aml With T(15 17)(Q22 Q12) (Pml/Raralpha) And Variants Apml Acute Myeloblastic Leukemia 3 Acute Myeloid Leukemia With T(15 17)(Q22 Q12) (Pml/Raralpha) And Variants Acute Myeloblastic Leukaemia Type 3 Acute Myeloid Leukaemia M3 Acute Myeloid Leukemia M3 Acute Promyelocytic Leukaemia M3 Anll Myeloid Leukemia, Acute, M3 Leukemia Promyelocytic Acute Leukemia, Promyelocytic, Acute Leukemia, Acute, Promyelocytic
Myeloproliferative Neoplasm	Myeloproliferative Disorder Chronic Myeloproliferative Disease Myeloproliferative Neoplasms Chronic Myeloproliferative Disorder Cmpd Cmpd, U Chronic Myeloproliferative Disorders Mpd Mpn Myeloproliferative Disorders Myeloproliferative Disease Campomelic Dysplasia
Myelofibrosis	Primary Myelofibrosis Agnogenic Myeloid Metaplasia Idiopathic Myelofibrosis Myeloid Metaplasia Myelofibrosis With Myeloid Metaplasia Osteomyelofibrosis Megakaryocytic Myelosclerosis Myelosclerosis Chronic Idiopathic Myelofibrosis Myelofibrosis, Idiopathic Myelofibrosis With Myeloid Metaplasia, Somatic Myelofibrosis, Somatic Aleukemic Myelosis Bone Marrow Fibrosis MYELOF MMM Agnogenic Myeloid Metaplasia With Myelofibrosis Ammm Myelosclerosis With Myeloid Metaplasia Myelofibrosis Nos
Chronic Leukemia	Adult Chronic Leukemia Cll Cml
Aplastic Anemia	Aplastic Anemia, Susceptibility To Anemia Aplastic Idiopathic Aplastic Anemia Secondary Aplastic Anemia Idiopathic Bone Marrow Failure Aplastic Anemia Idiopathic AA Anemia, Aplastic Aplastic Anemia, Idiopathic Erythroid Aplasia Aa - [Aplastic Anaemia] Haematopoietic Aplasia Aleukia Haemorrhagica Anaemia Due To Decreased Red Cell Production Aplasia Bone Marrow Aplastic Bone Marrow Hypoplastic Anaemia Nos Myeloid Bone Marrow Aplasia Pancytopenia Panhaematopenia Hypoproliferative Anaemia Medullary Hypoplasia Red Blood Cells Hypoplastic Anaemia Panmyelophthisis Panhemocytopenia Refractive Hypoproliferative Anaemia Toxic Anaemia Toxic Aplastic Anaemia Aplastic Anaemia Due To Toxic Cause Idiopathic Aplastic Anaemia Nos
Brain Stem Astrocytic Neoplasm	Brainstem Astrocytoma Astrocytoma Of Brain Stem
Severe Congenital Neutropenia 3	Kostmann Syndrome Infantile Agranulocytosis Kostmann Disease Scn3 Severe Congenital Neutropenia Type 3
Cyclic Neutropenia	Cyclic Hematopoiesis Cyclical Neutropenia Neutropenia Cyclic Cyclic Hematopoesis Neutropenia, Cyclic Cyclic Agranulocytosis Neutropenia, Periodic Cyclic Leucopenia Periodic Neutropenia Cyclic Haematopoiesis CH Hematopoiesis, Cyclic Neutropenia, Cyclical
Aneurysm, Intracranial Berry, 12	ANIB12 Intracranial Berry Aneurysm 12
Chronic Eosinophilic Leukemia	Pdgfra-Associated Chronic Eosinophilic Leukemia
Whim Syndrome 1	Whim Syndrome Whims Warts, Hypogammaglobulinemia, Infections, And Myelokathexis WHIMS1 Warts-Hypogammaglobulinemia-Infections-Myelokathexis Syndrome Warts, Hypogammaglobulinemia, Infections, And Myelokathexis Syndrome 1 Myelokathexis, Isolated Wilm Warts-Infections-Leukopenia-Myelokatexis Syndrome Warts, Hypogammaglobulinemia, Infections And Myelokathexis Syndrome 1
Leukemia, Acute Lymphoblastic	Acute Lymphoblastic Leukemia ALL Acute Lymphocytic Leukemia Leukemia, Acute Lymphocytic, Susceptibility To, 1 Acute Lymphoblastic Leukaemia Precursor Lymphoblastic Lymphoma/Leukemia Precursor Lymphoid Neoplasm Leukemia, Acute Lymphoblastic, Susceptibility To B-Cell Acute Lymphoblastic Leukemia Leukemia, Acute Lymphocytic 1 Acute Lymphocytic Leukaemia Acute Lymphoblastic Leukemia/Lymphoma All1 Childhood Acute Lymphoblastic Leukemia Leukemia Acute Lymphoblastic 1 Leukemia Acute Lymphoblastic B-Hyperdiploid Leukemia Acute Lymphocytic Leukemia Acute Lymphocytic 1 Leukemia B-Cell Acute Lymphoblastic Leukemia T-Cell Acute Lymphoblastic Leukemia, Acute Lymphoblastic, 3 ALL3 Lymphoblastic Leukemia Acute Leukemia, Acute, Lymphoblastic Precursor Cell Lymphoblastic Leukemia Lymphoma Leukemia, Lymphocytic, Acute, L1 Leukemia, Acute Lymphoblastic, Susceptibility To, 3
Bladder Cancer	Urinary Bladder Cancer Bladder Carcinoma Urinary Bladder Carcinoma Bladder Neoplasm Bladder Tumor Cancer, Bladder Malignant Neoplasm Of Urinary Bladder Carcinoma Of Bladder Bladder Cancer, Somatic Tumor Of The Bladder Carcinoma Of Urinary Bladder Bladder Carcinoma Urinary Cancer Of The Urinary Bladder Cancer, Urinary Bladder Malignant Bladder Neoplasm Malignant Bladder Tumor Neoplasm Of The Bladder Neoplasm Of The Urinary Bladder Tumor Of The Urinary Bladder Urinary Bladder Neoplasm BLC Urothelial Carcinoma Of The Bladder Bladder Tumors Urinary Bladder Neoplasms Bladder Cancer Nos Vesical Cancer Nos Malignant Neoplasm Of Bladder, Part Unspecified Malignant Tumour Of Urinary Bladder Primary Malignant Neoplasm Of Bladder
Essential Thrombocythemia	Essential Thrombocytosis Familial Thrombocytosis Hemorrhagic Thrombocythemia Hereditary Thrombocythemia Primary Thrombocytosis Idiopathic Thrombocythemia Primary Thrombocythemia Thrombocythemia, Essential Essential Thrombocythaemia Et Familial Thrombocythemia Thrombocythemia Essential
Shwachman-Diamond Syndrome 1	Shwachman-Diamond Syndrome Shwachman Syndrome Shwachman-Bodian-Diamond Syndrome Sds Pancreatic Insufficiency And Bone Marrow Dysfunction Shwachman-Bodian Syndrome SDS1 Lipomatosis Of Pancreas, Congenital Congenital Lipomatosis Of Pancreas Shwachman-Diamond Type Metaphyseal Dysplasia Metaphyseal Chondrodysplasia, Shwachman Type Shwachman-Diamond-Oski Syndrome
Juvenile Myelomonocytic Leukemia	Leukemia, Juvenile Myelomonocytic JMML Leukemia, Juvenile Myelomonocytic, Somatic Juvenile Chronic Myelomonocytic Leukemia Juvenile Chronic Myelogenous Leukemia Leukemia, Myelomonocytic, Juvenile Juvenile Myelomonocytic Leukaemia Without Mention Of Remission
Deficiency Anemia	Anemia Deficiency Anemias Anaemia
Leukemia, Chronic Lymphocytic	Chronic Lymphocytic Leukemia B-Cell Chronic Lymphocytic Leukemia CLL B-Cell Chronic Lymphoid Leukemia Chronic Lymphatic Leukemia Chronic Lymphocytic Leukaemia Lymphoplasmacytic Leukemia Small Lymphocytic Lymphoma Leukemia, Chronic Lymphatic B-Cell Chronic Lymphocytic Leukaemia Chronic Lymphatic Leukaemia Lymphoplasmacytic Leukaemia B Cell Chronic Lymphocytic Leukemia Chronic B-Cell Lymphocytic Leukemia Leukemia, Lymphocytic, Chronic B-Cll Chronic Lymphoid Leukemia Leukemia Lymphocytic Chronic Lymphoma Small Lymphocytic Leukemia, Lymphocytic, Chronic, B-Cell

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS03235	CSF3R Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17380	Csf3r Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23834	Csf3r Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	CSF3R	RGD	RGD:1309114
Macaca mulatta	CSF3R	VGNC	VGNC:71521
Mus musculus	CSF3R	MGD	MGI:1339755
Canis familiaris	CSF3R	VGNC	VGNC:39658
Bos taurus	CSF3R	VGNC	VGNC:27758
Felis catus	CSF3R	VGNC	VGNC:61217
Others	CSF3R	NCBI