CSF3R colony stimulating factor 3 receptor [Homo sapiens (human)] - Gene

Summary

Official Symbol: CSF3Rprovided by HGNC
Official Full Name: colony stimulating factor 3 receptorprovided by HGNC
Primary source: HGNC:HGNC:2439
See related: Ensembl:ENSG00000119535 MIM:138971; AllianceGenome:HGNC:2439
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SCN7; CD114; GCSFR
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]
Expression: Biased expression in bone marrow (RPKM 133.9), appendix (RPKM 79.2) and 5 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p34.3

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (36466043..36483314, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (36328923..36346193, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (36931644..36948915, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Gene Expression of CSF3R/CD114 Is Associated with Poorer Patient Survival in Glioma.
Title: Gene Expression of CSF3R/CD114 Is Associated with Poorer Patient Survival in Glioma.
The RNA m[6]A demethylase ALKBH5 drives emergency granulopoiesis and neutrophil mobilization by upregulating G-CSFR expression.
Title: The RNA m(6)A demethylase ALKBH5 drives emergency granulopoiesis and neutrophil mobilization by upregulating G-CSFR expression.
Integrated transcriptome, proteome and single-cell sequencing uncover the prognostic and immunological features of colony-stimulating factor 3 receptor in pan-cancer.
Title: Integrated transcriptome, proteome and single-cell sequencing uncover the prognostic and immunological features of colony-stimulating factor 3 receptor in pan-cancer.
[Analysis of CSF3R Gene Mutations and Clinical Characteristics in Patients with t(8;21) Acute Myeloid Leukemia].
Title: [Analysis of CSF3R Gene Mutations and Clinical Characteristics in Patients with t(8;21) Acute Myeloid Leukemia].
Mutational screens highlight glycosylation as a modulator of colony-stimulating factor 3 receptor (CSF3R) activity.
Title: Mutational screens highlight glycosylation as a modulator of colony-stimulating factor 3 receptor (CSF3R) activity.
[Restratifying the prognosis of acute myeloid leukemia patients with CEBPA double mutations based on CSF3R mutations and measurable residual disease].
Title: [Restratifying the prognosis of acute myeloid leukemia patients with CEBPA double mutations based on CSF3R mutations and measurable residual disease].
Alternatively spliced CSF3R isoforms in SRSF2 P95H mutated myeloid neoplasms.
Title: Alternatively spliced CSF3R isoforms in SRSF2 P95H mutated myeloid neoplasms.
Differential Implications of CSF3R Mutations in t(8;21) and CEBPA Double Mutated Acute Myeloid Leukemia.
Title: Differential Implications of CSF3R Mutations in t(8;21) and CEBPA Double Mutated Acute Myeloid Leukemia.
The prognostic factors in acute myeloid leukaemia with double-mutated CCAAT/enhancer-binding protein alpha (CEBPAdm).
Title: The prognostic factors in acute myeloid leukaemia with double-mutated CCAAT/enhancer-binding protein alpha (CEBPAdm).
The clinical characteristics and prognosis of Chinese acute myeloid leukemia patients with CSF3R mutations.
Title: The clinical characteristics and prognosis of Chinese acute myeloid leukemia patients with CSF3R mutations.

Submit: New GeneRIF Correction See all GeneRIFs (108)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency MedGen: C4310764 OMIM: 617014 GeneReviews: Not available	Compare labs
Hereditary neutrophilia MedGen: C0543669 OMIM: 162830 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH78993 (e-PCR)
- UniSTS:47915

GDB:607675 (e-PCR)
- UniSTS:158261

GDB:607682 (e-PCR)
- UniSTS:158263

SHGC-74604 (e-PCR)
- UniSTS:2396

CSF3R_1336 (e-PCR)
- UniSTS:277132

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cytokine binding	IBA Inferred from Biological aspect of Ancestor more info
enables cytokine receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables granulocyte colony-stimulating factor binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in amelogenesis	IEA Inferred from Electronic Annotation more info
involved_in cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in cytokine-mediated signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in defense response	TAS Traceable Author Statement more info	PubMed
involved_in neutrophil chemotaxis	IEA Inferred from Electronic Annotation more info
involved_in regulation of myeloid cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in endocytic vesicle membrane	TAS Traceable Author Statement more info
is_active_in external side of plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in lysosomal membrane	TAS Traceable Author Statement more info
located_in plasma membrane	TAS Traceable Author Statement more info
part_of receptor complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: granulocyte colony-stimulating factor receptor

Names: CD114 antigen; G-CSF receptor; G-CSF-R; colony stimulating factor 3 receptor (granulocyte)

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_016270.1 RefSeqGene

Range

4595..21866

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_144

mRNA and Protein(s)

NM_000760.4 → NP_000751.1 granulocyte colony-stimulating factor receptor isoform a precursor

See identical proteins and their annotated locations for NP_000751.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes isoform a.

Source sequence(s)

BC053585, DA858302

Consensus CDS

CCDS413.1

UniProtKB/Swiss-Prot

Q99062

UniProtKB/TrEMBL

Q1ZYL6

Related

ENSP00000362198.2, ENST00000373106.6

Conserved Domains (4) summary

smart00060
Location:527 → 607

FN3; Fibronectin type 3 domain

cd00063
Location:249 → 329

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam00041
Location:430 → 514

fn3; Fibronectin type III domain

pfam06328
Location:24 → 110

Lep_receptor_Ig; Ig-like C2-type domain
NM_156039.3 → NP_724781.1 granulocyte colony-stimulating factor receptor isoform c precursor

See identical proteins and their annotated locations for NP_724781.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 3' coding region compared to variant 1, resulting in a longer isoform (c) compared to isoform a.

Source sequence(s)

BC053585, BX370109, DA858302, M59820

Consensus CDS

CCDS414.1

UniProtKB/TrEMBL

Q1ZYL6

Related

ENSP00000362195.1, ENST00000373103.5

Conserved Domains (4) summary

smart00060
Location:527 → 607

FN3; Fibronectin type 3 domain

cd00063
Location:249 → 329

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam00041
Location:430 → 514

fn3; Fibronectin type III domain

pfam06328
Location:24 → 110

Lep_receptor_Ig; Ig-like C2-type domain
NM_172313.3 → NP_758519.1 granulocyte colony-stimulating factor receptor isoform d precursor

See identical proteins and their annotated locations for NP_758519.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks an alternate segment compared to variant 1, that causes a frameshift. The resulting isoform (d) is shorter and has a distinct C-terminus compared to isoform a.

Source sequence(s)

BC053585, BX370109, DA858302, X55720

Consensus CDS

CCDS412.1

UniProtKB/TrEMBL

Q1ZYL6

Related

ENSP00000362196.1, ENST00000373104.5

Conserved Domains (5) summary

smart00060
Location:527 → 607

FN3; Fibronectin type 3 domain

cd00063
Location:249 → 329

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam00041
Location:430 → 514

fn3; Fibronectin type III domain

pfam06328
Location:24 → 110

Lep_receptor_Ig; Ig-like C2-type domain

cl21522
Location:122 → 220

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

36466043..36483314 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005270493.1 → XP_005270550.1 granulocyte colony-stimulating factor receptor isoform X3

UniProtKB/TrEMBL

Q1ZYL6

Conserved Domains (4) summary

smart00060
Location:527 → 607

FN3; Fibronectin type 3 domain

cd00063
Location:249 → 329

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam00041
Location:430 → 514

fn3; Fibronectin type III domain

pfam06328
Location:24 → 110

Lep_receptor_Ig; Ig-like C2-type domain
XM_011540749.1 → XP_011539051.1 granulocyte colony-stimulating factor receptor isoform X2

UniProtKB/TrEMBL

Q1ZYL6

Conserved Domains (4) summary

smart00060
Location:527 → 607

FN3; Fibronectin type 3 domain

cd00063
Location:249 → 329

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam00041
Location:430 → 514

fn3; Fibronectin type III domain

pfam06328
Location:24 → 110

Lep_receptor_Ig; Ig-like C2-type domain
XM_047446753.1 → XP_047302709.1 granulocyte colony-stimulating factor receptor isoform X1

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

36328923..36346193 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054334546.1 → XP_054190521.1 granulocyte colony-stimulating factor receptor isoform X3
XM_054334545.1 → XP_054190520.1 granulocyte colony-stimulating factor receptor isoform X2
XM_054334544.1 → XP_054190519.1 granulocyte colony-stimulating factor receptor isoform X1
XM_054334547.1 → XP_054190522.1 granulocyte colony-stimulating factor receptor isoform X4

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_156038.2: Suppressed sequence

Description

NM_156038.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.