PF4V1 (platelet factor 4 variant 1)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 5197
Gene name Platelet factor 4 variant 1
Gene symbol PF4V1
Synonyms (NCBI Gene)
CXCL4L1CXCL4V1PF4-ALTPF4ASCYB4V1
Chromosome 4
Chromosome location 4q13.3
Summary The protein encoded by this gene is a chemokine that is highly similar to platelet factor 4. The encoded protein displays a strong antiangiogenic function and is regulated by chemokine (C-X-C motif) receptor 3. This protein also impairs tumor growth and c
miRNA miRNA information provided by mirtarbase database.
7
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (7)
miRTarBase ID miRNA Experiments Reference
MIRT2392423 hsa-miR-1278 CLIP-seq
MIRT2392424 hsa-miR-217 CLIP-seq
MIRT2392425 hsa-miR-3646 CLIP-seq
MIRT2392426 hsa-miR-4418 CLIP-seq
MIRT2392427 hsa-miR-509-3-5p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (17)
GO ID Ontology Definition Evidence Reference
GO:0005125 Function Cytokine activity IEA
GO:0005515 Function Protein binding IPI 28381538
GO:0005576 Component Extracellular region IEA
GO:0005615 Component Extracellular space IBA
GO:0005615 Component Extracellular space IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
173461 8862 ENSG00000109272
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P10720
Protein name Platelet factor 4 variant (C-X-C motif chemokine 4 variant) (CXCL4L1) (PF4alt) (PF4var1) [Cleaved into: Platelet factor 4 variant(4-74); Platelet factor 4 variant(5-74); Platelet factor 4 variant(6-74)]
Protein function Inhibitor of angiogenesis. Inhibitor of endothelial cell chemotaxis (in vitro).
PDB 4HSV
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00048 IL8 42 → 100 Small cytokines (intecrine/chemokine), interleukin-8 like Domain
Sequence 
MSSAARSRLTRATRQEMLFLALLLLPVVVAFARAEAEEDGDLQCLCVKTTSQVRPRHITS
LEVIKAGPHCPTAQLIATLKNGRKICLDLQALLYKKIIKEHLES
Sequence length 104
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Cytokine-cytokine receptor interaction
Viral protein interaction with cytokine and cytokine receptor
Chemokine signaling pathway 		  Common Pathway of Fibrin Clot Formation
Cell surface interactions at the vascular wall
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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)
Show/Hide Unknown Diseases (1)
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
IGA GLOMERULONEPHRITIS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (26)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 27634764
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Juvenile Juvenile arthritis Pubtator 39699225 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Blood Platelet Disorders Platelet disorder Pubtator 30721642 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Calcinosis Calcinosis Pubtator 35054772 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Coronary Arteriosclerosis Coronary Arteriosclerosis BEFREE 22384011
★★★★★
★☆☆☆☆
Found in Text Mining only
Coronary Artery Disease Coronary artery disease BEFREE 22384011
★★★★★
★☆☆☆☆
Found in Text Mining only
Coronary Artery Disease Coronary artery disease Pubtator 22384011 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Coronary heart disease Coronary Heart Disease BEFREE 22384011
★★★★★
★☆☆☆☆
Found in Text Mining only
Diabetes Diabetes BEFREE 30593538
★★★★★
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Diabetes Mellitus BEFREE 30593538
★★★★★
★☆☆☆☆
Found in Text Mining only