Csf1r Gene Detail

Summary

• Symbol
  Csf1r
• Name
  colony stimulating factor 1 receptor
• Synonyms
  CD115, CSF-1R, Csfmr, Fim-2, Fim2, Fms, M-CSFR

• Feature Type
  protein coding gene
• IDs
  MGI:1339758
  NCBI Gene: 12978
• Alliance
  gene page
• Transcription Start Sites
  53 TSS

Location &
Maps

• Sequence Map
  Chr18:61238644-61264211 bp, + strand

  From NCBI annotation of GRCm39
  

• View this region in JBrowse
  

• Genome Browsers
  Ensembl | UCSC | NCBI

• Genetic Map
  Chromosome 18, 34.41 cM, cytoband D
• Mapping Data
  25 experiments

Strain
Comparison

• SNPs within 2kb
  672 from dbSNP Build 142
• Strain Annotations
  18
• RFLP
  10

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1339758	protein coding gene	Chr18:61233670-61265221 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0024475	protein coding gene	Chr18:60962759-60991027 (+)
A/J	MGP_AJ_G0024442	protein coding gene	Chr18:58353045-58379634 (+)
AKR/J	MGP_AKRJ_G0024412	protein coding gene	Chr18:59961835-59988309 (+)
BALB/cJ	MGP_BALBcJ_G0024441	protein coding gene	Chr18:58483997-58510446 (+)
C3H/HeJ	MGP_C3HHeJ_G0024209	protein coding gene	Chr18:60187184-60214420 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0024888	protein coding gene	Chr18:62617314-62645157 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0022319	protein coding gene	Chr18:57899945-57926483 (+)
CAST/EiJ	MGP_CASTEiJ_G0023682	protein coding gene	Chr18:60057618-60085719 (+)
CBA/J	MGP_CBAJ_G0024179	protein coding gene	Chr18:64623301-64649696 (+)
DBA/2J	MGP_DBA2J_G0024309	protein coding gene	Chr18:58022028-58048548 (+)
FVB/NJ	MGP_FVBNJ_G0024275	protein coding gene	Chr18:57430735-57457593 (+)
LP/J	MGP_LPJ_G0024392	protein coding gene	Chr18:60814081-60841652 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0024304	protein coding gene	Chr18:66255491-66283316 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0024935	protein coding gene	Chr18:60152452-60179684 (+)
PWK/PhJ	MGP_PWKPhJ_G0023425	protein coding gene	Chr18:58250419-58278110 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0023231	protein coding gene	Chr18:60381955-60408737 (+)
WSB/EiJ	MGP_WSBEiJ_G0023746	protein coding gene	Chr18:60008029-60035628 (+)

Homology

• Human Ortholog
  CSF1R, colony stimulating factor 1 receptor

• Vertebrate Orthologs
  4

Vertebrate Orthology Source

Alliance of Genome Resources

• Human Ortholog
  CSF1R, colony stimulating factor 1 receptor
  
• Synonyms
  BANDDOS, CD115, C-FMS, CSF-1R, CSFR, FIM2, FMS, GPSC, HDLS, HDLS1, M-CSF-R
• Links
  HGNC:2433

  NCBI Gene ID: 1436

  neXtProt AC: NX_P07333

  UniProt: P07333

  
  
• Chr Location
  5q32; chr5:150053291-150113372 (-)  GRCh38

---

• MGI Vertebrate Homology
  Csf1r stringent orthology
  1 human;1 mouse;1 rat;2 zebrafish
  
• HCOP
  vertebrate homology predictions: CSF1R
• Protein SuperFamily
  TyrPK_CSF1-R
• Gene Tree
  Csf1r
  

Human Diseases

• Diseases
  9 with human CSF1R associations

				Human Disease	Mouse Models
				adult-onset leukoencephalopathy with axonal spheroids and pigmented glia IDs adult-onset leukoencephalopathy with axonal spheroids and pigmented glia       DOID:0080523 OMIM:221820 ORDO:313808
				colon adenocarcinoma IDs colon adenocarcinoma       DOID:234 MESH:D003110 NCI:C4349 UMLS_CUI:C0338106
				diabetes mellitus IDs diabetes mellitus       DOID:9351 ICD10CM:E08-E13 ICD9CM:250 MESH:D003920 NCI:C2985 UMLS_CUI:C0011849
				gastrointestinal stromal tumor IDs gastrointestinal stromal tumor       DOID:9253 ICD10CM:C49.A MESH:D046152 NCI:C3868 OMIM:606764 UMLS_CUI:C0238198
				hepatocellular carcinoma IDs hepatocellular carcinoma       DOID:684 DOID:5005 EFO:0000182 ICD10CM:C22.0 MESH:D006528 NCI:C3099 OMIM:114550 ORDO:88673 UMLS_CUI:C2239176
				lung cancer IDs lung cancer       DOID:1324 DOID:13075 DOID:1322 DOID:9881 ICD10CM:C34.1 ICD10CM:C34.2 ICD10CM:C34.3 ICD9CM:162.3 ICD9CM:162.4 ICD9CM:162.5 ICD9CM:162.8 OMIM:211980 OMIM:608935 OMIM:612571 OMIM:612593 OMIM:614210 UMLS_CUI:C0024624 UMLS_CUI:C0153491 UMLS_CUI:C0153492 UMLS_CUI:C0153493
				lung non-small cell carcinoma IDs lung non-small cell carcinoma       DOID:3908 EFO:0003060 KEGG:05223 MESH:D002289 NCI:C2926 UMLS_CUI:C0007131
				nasopharynx carcinoma IDs nasopharynx carcinoma       DOID:9261 DOID:8813 DOID:8814 DOID:9057 DOID:9144 DOID:9197 DOID:9229 ICD10CM:C11 ICD10CM:C11.0 ICD10CM:C11.1 ICD10CM:C11.2 ICD10CM:C11.3 ICD9CM:147 ICD9CM:147.0 ICD9CM:147.1 ICD9CM:147.2 ICD9CM:147.3 ICD9CM:147.9 MESH:D009303 NCI:C9321 OMIM:161550 OMIM:607107 ORDO:150 UMLS_CUI:C0153392 UMLS_CUI:C0153393 UMLS_CUI:C0153394 UMLS_CUI:C0153395 UMLS_CUI:C0153396 UMLS_CUI:C0238301
				renal cell carcinoma IDs renal cell carcinoma       DOID:4450 EFO:0000681 MESH:D002292 NCI:C9385 OMIM:300854 ORDO:217071 UMLS_CUI:C0007134

Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes

• Phenotype Summary
  78 phenotypes from 3 alleles in 5 genetic backgrounds
  1 phenotype from multigenic genotypes
  90 phenotype references
  

• All Mutations and Alleles
  24
• Endonuclease-mediated
  18
• Targeted
  6
• Incidental Mutations
  APF , CvDC
• Find Mice (IMSR)
  67 strains or lines available
• Comparison Matrix
  Gene Expression + Phenotype
• Recombinase Activity
  Comparison Matrix Gene Expression + Recombinase Activity

Homozygotes for a targeted null mutation exhibit skeletal, sensory, and reproductive abnormalities associated with severe deficiencies in osteoclasts, macrophages, and brain microglia.

Gene Ontology
(GO)
Classifications

• All GO Annotations
  139
• GO References
  29

Expression

• Assay Results
  1006
• Tissues
  178
• cDNA Data
  37
• Literature Summary
  55

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

• Other Mouse Links
  Allen Institute
  GEO
  Expression Atlas
• Other Vertebrate Links
  Xenbase csf1r
  ZFIN csf1ra, csf1rb

Sequences &
Gene Models

• All Sequences
  78
• RefSeq
  2
• UniProt
  13
• CCDS
  CCDS29280.1

• Ensembl
  ENSMUSG00000024621 (Evidence)
• NCBI Gene
  12978

Representative Sequences			Length	Strain/Species
genomic	12978	NCBI Gene Model | MGI Sequence Detail	25568	C57BL/6J
transcript	NM_001037859	RefSeq | MGI Sequence Detail	3875	ZRU/MplStud
polypeptide	P09581	UniProt | EBI | MGI Sequence Detail	977	Not Applicable

Protein
Information

• UniProt
  13 Sequences
• Protein Ontology
  PR:000002062 macrophage colony-stimulating factor 1 receptor
  (term hierarchy)
• PDB
  3EJJ, 4EXP
• EC
  2.7.10.1
• InterPro Domains
  IPR050958 Cell Adhesion and Cytoskeletal Organization
  IPR013151 Immunoglobulin
  IPR007110 Immunoglobulin-like domain
  IPR036179 Immunoglobulin-like domain superfamily
  IPR013783 Immunoglobulin-like fold
  IPR003599 Immunoglobulin subtype
  IPR003598 Immunoglobulin subtype 2
  IPR030658 Macrophage colony-stimulating factor 1 receptor
  IPR042495 Platelet-derived growth factor receptor-like protein
  IPR017441 Protein kinase, ATP binding site
  IPR000719 Protein kinase domain
  IPR011009 Protein kinase-like domain superfamily
  IPR050122 Receptor Tyrosine Kinase
  IPR001245 Serine-threonine/tyrosine-protein kinase, catalytic domain
  IPR008266 Tyrosine-protein kinase, active site
  IPR020635 Tyrosine-protein kinase, catalytic domain
  IPR001824 Tyrosine-protein kinase, receptor class III, conserved site
• GlyGen
  P09581 10 sites, 3 N-linked glycans (5 sites)

Molecular
Reagents

• All nucleic 66

  Genomic 8

  cDNA 41

  Primer pair 10

  Other 7

  
  

  Microarray probesets 6

Other
Accession IDs

MGD-MRK-2192, MGD-MRK-9798, MGD-MRK-9845, MGI:2147208, MGI:88535

References

• Summaries
  All 308

  Developmental Gene Expression 55

  Gene Ontology 29

  Phenotypes 90
• Earliest
  J:6867 Muller R, et al., Differential expression of cellular oncogenes during pre- and postnatal development of the mouse. Nature. 1982 Oct 14;299(5884):640-4
• Latest
  J:357415 Gallerand A, et al., Glucose metabolism controls monocyte homeostasis and migration but has no impact on atherosclerosis development in mice. Nat Commun. 2024 Oct 19;15(1):9027

TSS for Csf1r:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr151405	Chr18:61238599-61238618 (+)	-35 bp
Tssr151406	Chr18:61238633-61238651 (+)	-2 bp
Tssr151407	Chr18:61238668-61238675 (+)	28 bp
Tssr151408	Chr18:61238688-61238707 (+)	54 bp
Tssr151409	Chr18:61238712-61238726 (+)	75 bp
Tssr151410	Chr18:61238734-61238739 (+)	93 bp
Tssr151411	Chr18:61238889-61238900 (+)	251 bp
Tssr151412	Chr18:61238916-61238962 (+)	295 bp
Tssr151413	Chr18:61238977-61238982 (+)	336 bp
Tssr151414	Chr18:61239113-61239124 (+)	475 bp
Tssr151415	Chr18:61241933-61241944 (+)	3,295 bp
Tssr151416	Chr18:61241964-61242005 (+)	3,341 bp
Tssr151417	Chr18:61242694-61242698 (+)	4,052 bp
Tssr151418	Chr18:61242707-61242714 (+)	4,067 bp
Tssr151419	Chr18:61242737-61242750 (+)	4,100 bp
Tssr151420	Chr18:61242782-61242805 (+)	4,150 bp
Tssr151421	Chr18:61242808-61242831 (+)	4,176 bp
Tssr151422	Chr18:61242833-61242842 (+)	4,194 bp
Tssr151423	Chr18:61242874-61242885 (+)	4,236 bp
Tssr151424	Chr18:61242912-61242923 (+)	4,274 bp
Tssr151425	Chr18:61243411-61243556 (+)	4,840 bp
Tssr151426	Chr18:61244326-61244342 (+)	5,690 bp
Tssr151427	Chr18:61245017-61245055 (+)	6,392 bp
Tssr151428	Chr18:61245082-61245127 (+)	6,461 bp
Tssr151429	Chr18:61245764-61245791 (+)	7,134 bp
Tssr151430	Chr18:61245821-61245843 (+)	7,188 bp
Tssr151431	Chr18:61247859-61247946 (+)	9,259 bp
Tssr151434	Chr18:61250615-61250643 (+)	11,985 bp
Tssr151435	Chr18:61250701-61250718 (+)	12,066 bp
Tssr151436	Chr18:61250733-61250744 (+)	12,095 bp
Tssr151437	Chr18:61252017-61252086 (+)	13,408 bp
Tssr151438	Chr18:61255041-61255051 (+)	16,402 bp
Tssr151439	Chr18:61255090-61255098 (+)	16,450 bp
Tssr151440	Chr18:61257288-61257353 (+)	18,677 bp
Tssr151441	Chr18:61260823-61260889 (+)	22,212 bp
Tssr151442	Chr18:61260908-61260997 (+)	22,309 bp
Tssr151443	Chr18:61262066-61262079 (+)	23,429 bp
Tssr151444	Chr18:61262120-61262149 (+)	23,491 bp
Tssr151445	Chr18:61262331-61262344 (+)	23,694 bp
Tssr151446	Chr18:61262345-61262368 (+)	23,713 bp
Tssr151447	Chr18:61262400-61262425 (+)	23,769 bp
Tssr151448	Chr18:61262771-61262790 (+)	24,137 bp
Tssr151449	Chr18:61263501-61263512 (+)	24,863 bp
Tssr151450	Chr18:61263622-61263649 (+)	24,992 bp
Tssr151451	Chr18:61263681-61263712 (+)	25,053 bp
Tssr151452	Chr18:61263716-61263769 (+)	25,099 bp
Tssr151453	Chr18:61263782-61263796 (+)	25,145 bp
Tssr151454	Chr18:61263827-61263838 (+)	25,189 bp
Tssr151455	Chr18:61263904-61263919 (+)	25,268 bp
Tssr151456	Chr18:61263962-61263973 (+)	25,324 bp
Tssr151457	Chr18:61263981-61263992 (+)	25,343 bp
Tssr151458	Chr18:61264012-61264035 (+)	25,380 bp
Tssr151459	Chr18:61264103-61264127 (+)	25,471 bp