Gene Gene information from NCBI Gene database.
Entrez ID 1437
Gene name Colony stimulating factor 2
Gene symbol CSF2
Synonyms (NCBI Gene)
CSFGMCSF
Chromosome 5
Chromosome location 5q31.1
Summary The protein encoded by this gene is a cytokine that controls the production, differentiation, and function of granulocytes and macrophages. The active form of the protein is found extracellularly as a homodimer. This gene has been localized to a cluster o
miRNA miRNA information provided by mirtarbase database.
25
miRTarBase ID miRNA Experiments Reference
MIRT736497 hsa-miR-4697-3p RNA-seqqRT-PCR 33045840
MIRT911706 hsa-miR-2278 CLIP-seq
MIRT911707 hsa-miR-433 CLIP-seq
MIRT911708 hsa-miR-4660 CLIP-seq
MIRT911709 hsa-miR-4712-3p CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
8
Transcription factor Regulation Reference
CREBBP Unknown 20439113
CTCF Unknown 19158269
ETS1 Unknown 12475968
ETS2 Activation 12646185
JUN Unknown 15840658
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
51
GO ID Ontology Definition Evidence Reference
GO:0001821 Process Histamine secretion IEA
GO:0001892 Process Embryonic placenta development IEA
GO:0005125 Function Cytokine activity IBA
GO:0005125 Function Cytokine activity IDA 3925454, 9722506
GO:0005125 Function Cytokine activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
138960 2434 ENSG00000164400
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P04141
Protein name Granulocyte-macrophage colony-stimulating factor (GM-CSF) (Colony-stimulating factor) (CSF) (Molgramostin) (Sargramostim)
Protein function Cytokine that stimulates the growth and differentiation of hematopoietic precursor cells from various lineages, including granulocytes, macrophages, eosinophils and erythrocytes.
PDB 1CSG , 2GMF , 4NKQ , 4RS1 , 5C7X , 5D70 , 5D71 , 5D72 , 6BFQ , 6BFS
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01109 GM_CSF 18 139 Granulocyte-macrophage colony-stimulating factor Domain
Sequence
Sequence length 144
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
39
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AMNESIA CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMNESTIC DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANEMIA CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANEMIA, APLASTIC CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
5q-syndrome 5q-syndrome BEFREE 2999978
★☆☆☆☆
Found in Text Mining only
Acidosis Lactic Lactic acidosis Pubtator 31924656 Associate
★☆☆☆☆
Found in Text Mining only
Acrania Acrania CTD_human_DG 17075842
★☆☆☆☆
Found in Text Mining only
Acute Erythroblastic Leukemia Erythroblastic Leukemia BEFREE 11342328, 15328418, 8463313
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 1372766, 17252021, 7845015, 9414269
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 10942373, 12912966, 17205058, 19129484, 28535084, 29338593, 29596541, 30626253, 7535143, 8499641, 8600166
★☆☆☆☆
Found in Text Mining only
Acute Megakaryocytic Leukemias Megakaryocytic Leukemia BEFREE 1290964, 7519043, 8425202
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 11465948, 1387692, 8641372
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia LHGDN 17914409
★☆☆☆☆
Found in Text Mining only
Acute Myeloid Leukemia (AML-M2) Leukemia CTD_human_DG 21441929
★☆☆☆☆
Found in Text Mining only