1. Gene
  2. CSF3R - colony stimulating factor 3 receptor Gene

CSF3R - colony stimulating factor 3 receptor Gene

中文名称:集落刺激因子 3 受体

种属: Homo sapiens

同用名: SCN7; CD114; GCSFR

基因 ID: 1441 | 基因类型: protein coding

关于 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.

功能概要

该基因编码的蛋白质是集落刺激因子 3 的受体,集落刺激因子 3 是一种控制粒细胞产生、分化和功能的细胞因子。编码的蛋白质是细胞因子受体家族的一员,也可能在某些细胞表面粘附或识别过程中发挥作用。已经描述了选择性剪接的转录物变体。该基因的突变是导致科斯特曼综合征 (也称为严重先天性中性粒细胞减少症) 的原因。[RefSeq 提供,2010 年 8 月]

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 基因产物(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
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
9864141 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

CSF3R 蛋白结构

Lep_receptor_Ig

Lep_receptor_Ig: Ig-like C2-type domain (23 - 111)

fn3

fn3: Fibronectin type III domain (532 - 607)

  • 0
  • 200
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  • 600
  • 836 a.a.
蛋白主名 其他名称

granulocyte colony-stimulating factor receptor

CD114 antigen

重组 CSF3R 蛋白

目录号 产品名 蛋白编号 纯度
HY-P72634 G-CSFR/CD114 Protein, Human (HEK293, Fc) Q99062 (E25-H627) ≥95%
HY-P75692 G-CSFR/CD114 Protein, Human (HEK293) Q99062/NP_000751.1 (E25-P621) ≥95%
HY-P75694 G-CSFR/CD114 Protein, Human (HEK293, His) Q99062-1 (E25-H627) ≥95%
HY-P700528 G-CSFR/CD114 Protein, Human (HEK293, His-Flag) Q99062 (E25-P621) ≥95%

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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