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.
5
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.
1
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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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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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene miRNA Transcription factors 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 Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Chronic obstructive pulmonary disease Pathogenic rs2475817708 RCV004578007
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (33)
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
ARTHRITIS — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARTHRITIS, RHEUMATOID — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BONE DISEASES, METABOLIC — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC LEFT-SIDED ULCERATIVE COLITIS — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (249)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute intermittent porphyria Intermittent Porphyria BEFREE 25979770
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute Kidney Insufficiency Acute Kidney Insufficiency CTD_human_DG 28885000
★★★★★
★☆☆☆☆
Found in Text Mining only
Aggressive Periodontitis Aggressive Periodontitis BEFREE 8100208
★★★★★
★☆☆☆☆
Found in Text Mining only
alpha 1-Antitrypsin Deficiency Alpha 1-Antitrypsin Deficiency BEFREE 21228423
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyloidosis Amyloidosis BEFREE 21756351
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 29905407
★★★★★
★☆☆☆☆
Found in Text Mining only
Androgen-Insensitivity Syndrome Androgen-Insensitivity Syndrome BEFREE 27856225
★★★★★
★☆☆☆☆
Found in Text Mining only
Ankylosing spondylitis Ankylosing Spondylitis BEFREE 21844150, 22704802
★★★★★
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 25863973, 25926504, 25962507
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis Pubtator 22771520 Associate
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations