GC (GC vitamin D binding protein)

Gene Gene information from NCBI Gene database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 2638
Gene name GC vitamin D binding protein
Gene symbol GC
Synonyms (NCBI Gene)
DBPDBP-mafDBP/GCGRD3Gc-MAFGcMAFHEL-S-51VDBVDBGVDBP
Chromosome 4
Chromosome location 4q13.3
Summary The protein encoded by this gene belongs to the albumin gene family. It is a multifunctional protein found in plasma, ascitic fluid, cerebrospinal fluid and on the surface of many cell types. It binds to vitamin D and its plasma metabolites and transports
miRNA miRNA information provided by mirtarbase database.
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT016788 hsa-miR-335-5p Microarray 18185580
MIRT2233845 hsa-miR-3663-5p CLIP-seq
MIRT2233846 hsa-miR-3973 CLIP-seq
MIRT2233847 hsa-miR-520g CLIP-seq
MIRT2233848 hsa-miR-520h CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
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Transcription factor Regulation Reference
TP53 Unknown 8642300
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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GO ID Ontology Definition Evidence Reference
GO:0003779 Function Actin binding IEA
GO:0003779 Function Actin binding IPI 12119014
GO:0005499 Function Vitamin D binding IBA
GO:0005499 Function Vitamin D binding IEA
GO:0005499 Function Vitamin D binding TAS 1696927
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
139200 4187 ENSG00000145321
Protein Protein information from UniProt database.
Gene miRNA Transcription factors 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.
P02774
Protein name Vitamin D-binding protein (DBP) (VDB) (Gc protein-derived macrophage activating factor) (Gc-MAF) (GcMAF) (Gc-globulin) (Group-specific component) (Gc) (Vitamin D-binding protein-macrophage activating factor) (DBP-maf)
Protein function Involved in vitamin D transport and storage, scavenging of extracellular G-actin, enhancement of the chemotactic activity of C5 alpha for neutrophils in inflammation and macrophage activation.
PDB 1J78 , 1J7E , 1KW2 , 1KXP , 1LOT , 1MA9
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00273 Serum_albumin 27 → 199 Serum albumin family Domain
PF00273 Serum_albumin 218 → 385 Serum albumin family Domain
PF09164 VitD-bind_III 405 → 469 Vitamin D binding protein, domain III Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in the liver. Found in plasma, ascites, cerebrospinal fluid and urine. {ECO:0000269|PubMed:20079467, ECO:0000269|PubMed:2416779, ECO:0000305|PubMed:16302727}.
Sequence
Sequence length 474
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Vitamin D (calciferol) metabolism
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Chronic obstructive pulmonary disease Pathogenic rs2475817708 RCV004578007
Show/Hide Unknown Diseases (4)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
GC1/GC2 POLYMORPHISM Benign rs4588, rs7041, rs58603194 RCV000017356
RCV000017357
RCV000017358
Hepatocellular carcinoma Uncertain significance rs116134435 RCV005927199
Levothyroxine response Benign rs4588 RCV003315503
Periodontitis Benign rs7041 RCV003992157
Show/Hide Text Mining Associations (145)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 30716477
Adenoma Associate 36701139
Airway Obstruction Associate 32546996
Aphasia Primary Progressive Associate 20805994
Arthritis Associate 22771520
Arthritis Infectious Associate 32569219
Arthritis Juvenile Associate 22771520
Arthritis Rheumatoid Associate 30662913, 31491989
Arthritis Rheumatoid Inhibit 33584536
Asthma Associate 21810276, 24447085, 24745702, 30548492, 31541492, 37407930, 39894560