GC (GC vitamin D binding protein)

Gene

• Entrez ID: 2638
• Gene name: GC vitamin D binding protein
• Gene symbol: GC
• Synonyms: DBP, DBP-maf, DBP/GC, GRD3, Gc-MAF, GcMAF, HEL-S-51, VDB, VDBG, VDBP
• 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 them to target tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011]

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016788	hsa-miR-335-5p	Microarray	18185580

Transcription factors

Transcription factor	Regulation	Reference
TP53	Unknown	8642300

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003779	Function	Actin binding	IPI	12119014
GO:0005499	Function	Vitamin D binding	IBA	21873635
GO:0005576	Component	Extracellular region	NAS	14718574
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	HDA	16502470
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005829	Component	Cytosol	TAS
GO:0006810	Process	Transport	IBA	21873635
GO:0035461	Process	Vitamin transmembrane transport	IEA
GO:0042359	Process	Vitamin D metabolic process	TAS
GO:0043202	Component	Lysosomal lumen	TAS
GO:0051180	Process	Vitamin transport	TAS	1696927
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0072562	Component	Blood microparticle	HDA	22516433
GO:0090482	Function	Vitamin transmembrane transporter activity	IEA
GO:1902118	Function	Calcidiol binding	IDA	11799400

Other IDs

• MIM: 139200
• HGNC: 4187
• e!Ensembl: ENSG00000145321

Protein

• UniProt ID: 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

• Sequence:

  MKRVLVLLLAVAFGHALERGRDYEKNKVCKEFSHLGKEDFTSLSLVLYSRKFPSGTFEQV
  SQLVKEVVSLTEACCAEGADPDCYDTRTSALSAKSCESNSPFPVHPGTAECCTKEGLERK
  LCMAALKHQPQEFPTYVEPTNDEICEAFRKDPKEYANQFMWEYSTNYGQAPLSLLVSYTK
  SYLSMVGSCCTSASPTVCFLKERLQLKHLSLLTTLSNRVCSQYAAYGEKKSRLSNLIKLA
  QKVPTADLEDVLPLAEDITNILSKCCESASEDCMAKELPEHTVKLCDNLSTKNSKFEDCC
  QEKTAMDVFVCTYFMPAAQLPELPDVELPTNKDVCDPGNTKVMDKYTFELSRRTHLPEVF
  LSKVLEPTLKSLGECCDVEDSTTCFNAKGPLLKKELSSFIDKGQELCADYSENTFTEYKK
  KLAERLKAKLPDATPTELAKLVNKHSDFASNCCSINSPPLYCDSEIDAELKNIL

• Sequence length: 474

Pathways

Reactome:

Vitamin D (calciferol) metabolism

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Liver failure	Liver Failure, Acute	rs118203990, rs118203991, rs118203992, rs387907022, rs201861847, rs796065037, rs759315662, rs368196005, rs796052121, rs369437593, rs367683258, rs766314948, rs368085185, rs770446752, rs753039116, rs776797592, rs1490906786, rs1562849964, rs759960319, rs776597537, rs375350359, rs1573008071, rs1601977105, rs1174791046, rs1019313682	8666322, 17852808
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs-1, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	25821032
Rheumatoid arthritis	Rheumatoid Arthritis	rs3766379, rs3792876, rs2071592, rs3087456, rs587776843, rs1566328963	3874814
Multiple sclerosis	Multiple Sclerosis, Multiple Sclerosis, Acute Fulminating	rs104895219, rs-1, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039, rs483353038, rs61731956, rs568165874, rs767480544	25590278
Lung cancer	Malignant neoplasm of lung	rs121913530, rs121913529, rs878855122, rs1057519784, rs770315135	17902193

Unknown
Disease name	Disease term	dbSNP ID	References
Fulminant hepatic failure with cerebral edema	Fulminant Hepatic Failure with Cerebral Edema		11510020
Graves disease	Graves Disease		12050214
Hepatic coma	Hepatic Coma		11510020
Hepatic encephalopathy	Hepatic Encephalopathy		11510020
Hepatic stupor	Hepatic Stupor		11510020
Kidney failure	Kidney Failure, Acute		28885000
Liver cirrhosis	Liver Cirrhosis		24381012
Liver fibrosis	Fibrosis, Liver		24381012
Lung neoplasms	Lung Neoplasms		17902193
Metabolic bone disorder	Metabolic Bone Disorder		24381012
Osteopenia	Osteopenia		24381012
Acute kidney insufficiency	Acute Kidney Insufficiency		28885000
Toxic shock syndrome	Toxic Shock Syndrome		17852808
Vitamin d deficiency	Vitamin D Deficiency		20541252