Gene Gene information from NCBI Gene database.
Entrez ID 23529
Gene name Cardiotrophin like cytokine factor 1
Gene symbol CLCF1
Synonyms (NCBI Gene)
BSF-3BSF3CISS2CLCNNT-1NNT1NR6
Chromosome 11
Chromosome location 11q13.2
Summary This gene is a member of the glycoprotein (gp)130 cytokine family and encodes cardiotrophin-like cytokine factor 1 (CLCF1). CLCF1 forms a heterodimer complex with cytokine receptor-like factor 1 (CRLF1). This dimer competes with ciliary neurotrophic facto
miRNA miRNA information provided by mirtarbase database.
83
miRTarBase ID miRNA Experiments Reference
MIRT440940 hsa-miR-218-5p HITS-CLIP 23212916
MIRT440940 hsa-miR-218-5p HITS-CLIP 23212916
MIRT894535 hsa-miR-1293 CLIP-seq
MIRT894536 hsa-miR-3151 CLIP-seq
MIRT894537 hsa-miR-3158-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
42
GO ID Ontology Definition Evidence Reference
GO:0002639 Process Positive regulation of immunoglobulin production IEA
GO:0002639 Process Positive regulation of immunoglobulin production ISS
GO:0005102 Function Signaling receptor binding IPI 15272019
GO:0005125 Function Cytokine activity IDA 10966616
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
607672 17412 ENSG00000175505
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UBD9
Protein name Cardiotrophin-like cytokine factor 1 (B-cell-stimulating factor 3) (BSF-3) (Novel neurotrophin-1) (NNT-1)
Protein function In complex with CRLF1, forms a heterodimeric neurotropic cytokine that plays a crucial role during neuronal development (Probable). Also stimulates B-cells. Binds to and activates the ILST/gp130 receptor. {ECO:0000269|PubMed:10448081, ECO:000026
PDB 8D7H , 8D7R
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06875 PRF 40 213 Plethodontid receptivity factor PRF Domain
Tissue specificity TISSUE SPECIFICITY: Expressed predominantly in lymph nodes, spleen, peripheral blood lymphocytes, bone marrow, and fetal liver. {ECO:0000269|PubMed:10448081, ECO:0000269|PubMed:10500198}.
Sequence
Sequence length 225
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Cytokine-cytokine receptor interaction
JAK-STAT signaling pathway
  IL-6-type cytokine receptor ligand interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Cold-induced sweating syndrome 2 Pathogenic rs104894198, rs104894203, rs137853934, rs137853935 RCV000003064
RCV000003065
RCV000020692
RCV000032768
★★★★☆
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
CLCF1-related disorder Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLD-INDUCED SWEATING SYNDROME GWAS catalog, Orphanet
GWAS catalog, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLD-INDUCED SWEATING SYNDROME 1 Disgenet, GWAS catalog
Disgenet, GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CRISPONI SYNDROME CTD, Disgenet, Orphanet
CTD, Disgenet, Orphanet
CTD, Disgenet, Orphanet
★★☆☆☆
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
2-3 toe syndactyly Syndactyly Of The Toes HPO_DG
★☆☆☆☆
Found in Text Mining only
Acquired cubitus valgus Cubitus valgus HPO_DG
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 27903646
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 31700175
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 25654358
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 27903646
★☆☆☆☆
Found in Text Mining only
Allergic rhinitis (disorder) Allergic rhinitis BEFREE 19650845, 30368403
★☆☆☆☆
Found in Text Mining only
Anaplastic thyroid carcinoma Anaplastic thyroid cancer BEFREE 28489587
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 30209193
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 30682452, 31123109, 31157540
★☆☆☆☆
Found in Text Mining only