Gene

csf3r

ID

ZDB-GENE-080104-4

Name

colony stimulating factor 3 receptor

Symbol

csf3r Nomenclature History

Previous Names

gcsfr (2)

Type

protein_coding_gene

Location

Chr: 16 Mapping Details/Browsers

Description

Predicted to have cytokine binding activity and cytokine receptor activity. Involved in hemopoiesis and positive regulation of hematopoietic progenitor cell differentiation. Predicted to localize to external side of plasma membrane and receptor complex. Used to study neutropenia and severe congenital neutropenia. Human ortholog(s) of this gene implicated in acute myeloid leukemia; chronic myelomonocytic leukemia; chronic neutrophilic leukemia; myelodysplastic syndrome; and severe congenital neutropenia. Is expressed in several structures, including heart; hematopoietic system; immune system; myeloid cell; and pleuroperitoneal region. Orthologous to human CSF3R (colony stimulating factor 3 receptor).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

22 figures from 15 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 23 figures from 11 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With csf3r Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
hereditary neutrophilia	Alliance	?Neutrophilia, hereditary	162830
severe congenital neutropenia 7	Alliance	Neutropenia, severe congenital, 7, autosomal recessive	617014

Associated With csf3r Via Experimental Models

Human Disease	Fish	Conditions	Citations
severe congenital neutropenia	i114Tg + CRISPR1-csf3r + CRISPR2-csf3r + CRISPR3-csf3r	standard conditions	Pazhakh et al., 2017
severe congenital neutropenia	i114Tg + CRISPR3-csf3r	standard conditions	Pazhakh et al., 2017
severe congenital neutropenia	i114Tg + CRISPR2-csf3r	standard conditions	Pazhakh et al., 2017
severe congenital neutropenia	i114Tg + CRISPR1-csf3r	standard conditions	Pazhakh et al., 2017
severe congenital neutropenia	i114Tg + CRISPR1-csf3r + CRISPR2-csf3r	standard conditions	Pazhakh et al., 2017
severe congenital neutropenia	WT + CRISPR1-csf3r + CRISPR2-csf3r	standard conditions	Pazhakh et al., 2017
severe congenital neutropenia	WT + CRISPR1-csf3r + CRISPR3-csf3r	standard conditions	Pazhakh et al., 2017
severe congenital neutropenia	i114Tg + CRISPR1-csf3r + CRISPR3-csf3r	standard conditions	Pazhakh et al., 2017
severe congenital neutropenia	i114Tg + CRISPR2-csf3r + CRISPR3-csf3r	standard conditions	Pazhakh et al., 2017
neutropenia	csf3r^mdu6/mdu6	standard conditions	Basheer et al., 2018
neutropenia	csf3r^mdu5/mdu5	standard conditions	Basheer et al., 2018

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Conserved_site	IPR003529	Long hematopoietin receptor, Gp130 family 2, conserved site
Domain	IPR003961	Fibronectin type III
Domain	IPR010457	Immunoglobulin C2-set-like, ligand-binding
Family	IPR050379	Type I Cytokine Receptor
Homologous_superfamily	IPR013783	Immunoglobulin-like fold
Homologous_superfamily	IPR036116	Fibronectin type III superfamily
Homologous_superfamily	IPR036179	Immunoglobulin-like domain superfamily

Domain Details Per Protein

Protein	Length	Fibronectin type III	Fibronectin type III superfamily	Immunoglobulin C2-set-like, ligand-binding	Immunoglobulin-like domain superfamily	Immunoglobulin-like fold	Long hematopoietin receptor, Gp130 family 2, conserved site	Type I Cytokine Receptor
UniProtKB:A8Y5W0 InterPro	810
UniProtKB:F1R904 InterPro	810

Transcripts

Genome Browsers

NCBI

No data available

Interactions and Pathways

No data available

Antibodies

No data available

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations