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Gene id

2638

Gene Summary SNPs Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

GC Gene UCSC Ensembl

Aliases

DBP, DBP/GC, GRD3, Gc-MAF, GcMAF, HEL-S-51, VDBG, VDBP

Gene name

GC, vitamin D binding protein

Alternate names

vitamin D-binding protein, DBP-maf, VDB, epididymis secretory protein Li 51, gc protein-derived macrophage activating factor, gc-globulin, group-specific component (vitamin D binding protein), vitamin D-binding alpha-globulin, vitamin D-binding protein-macrophage,

Gene location

4q13.3 (71805519: 71741692) Exons: 15 NC_000004.12

Gene summary(Entrez)

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]

OMIM

139200

SNPs

rs7041

Strand: -   Allele origin: germline,germline  Allele change: G/T   Mutation type: snp


XM_006714177.2   c.1262+1794T>G
NP_000574.2   p.Asp432Glu
NP_001191235.1   p.Asp432Glu
NP_001191236.1   p.Asp451Glu
NG_012837.2   g.57904T>G
NM_000583.3   c.1296T>G
NM_001204306.1   c.1296T>G
NM_001204307.1   c.1353T>G
NC_000004.11   g.72618334A>C
NC_000004.12   g.71752617A
Clinical Significance: Benign

rs1155563

Strand: +   Allele origin: unknown  Allele change: C/T   Mutation type: snp


NC_000004.11   g.72643488T>C
NC_000004.12   g.71777771T>C
NG_012837.2   g.32750A>G
NM_000583.3   c.58+6190A>G
NM_001204307.1   c.115+6190A>G
NM_001204306.1   c.58+6190A>G
XM_006714177.2   c.58+6190A>G

rs2298849

Strand: -   Allele origin: unknown  Allele change: C/T   Mutation type: snp

NC_000004.11   g.72648851A>G
NC_000004.12   g.71783134A>G
NG_012837.2   g.27387T>C
NM_000583.3   c.58+827T>C
NM_001204306.1   c.58+827T>C
NM_001204307.1   c.115+827T>C
XM_006714177.2   c.58+827T>C

Protein Summary

Protein general information

P02774

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)

Length: 474 Mass: 52,964

Tissue specificity: Expressed in the liver. Found in plasma, ascites, cerebrospinal fluid and urine. {ECO

Sequence

MKRVLVLLLAVAFGHALERGRDYEKNKVCKEFSHLGKEDFTSLSLVLYSRKFPSGTFEQVSQLVKEVVSLTEACC
AEGADPDCYDTRTSALSAKSCESNSPFPVHPGTAECCTKEGLERKLCMAALKHQPQEFPTYVEPTNDEICEAFRK
DPKEYANQFMWEYSTNYGQAPLSLLVSYTKSYLSMVGSCCTSASPTVCFLKERLQLKHLSLLTTLSNRVCSQYAA
YGEKKSRLSNLIKLAQKVPTADLEDVLPLAEDITNILSKCCESASEDCMAKELPEHTVKLCDNLSTKNSKFEDCC
QEKTAMDVFVCTYFMPAAQLPELPDVELPTNKDVCDPGNTKVMDKYTFELSRRTHLPEVFLSKVLEPTLKSLGEC
CDVEDSTTCFNAKGPLLKKELSSFIDKGQELCADYSENTFTEYKKKLAERLKAKLPDATPKELAKLVNKRSDFAS
NCCSINSPPLYCDSEIDAELKNIL

Structural information

Protein Domains	Albumin (17-208) Albumin (209-394) Albumin (395-474)
Interpro:	IPR000264 IPR020858 IPR020857 IPR014760 IPR000213 IPR015247
Prosite:	PS00212 PS51438
Pfam:	PF00273 PF09164
CDD:	cd00015
PDB:	1J78 1J7E 1KW2 1KXP 1LOT 1MA9
PDBsum:	1J78 1J7E 1KW2 1KXP 1LOT 1MA9
DIP:	17038
MINT:	239255
STRING:	ENSP00000421725;

Other Databases

GeneCards: GC; Malacards: GC

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003779	actin binding	IPI	molecular_function
GO:0005499	vitamin D binding	TAS	molecular_function
GO:0005576	extracellular region	NAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0007565	female pregnancy	IEA	biological_process
GO:0007595	lactation	IEA	biological_process
GO:0030424	axon	IEA	cellular_component
GO:0031667	response to nutrient leve ls	IEA	biological_process
GO:0032355	response to estradiol	IEA	biological_process
GO:0042359	vitamin D metabolic proce ss	TAS	biological_process
GO:0043202	lysosomal lumen	TAS	cellular_component
GO:0043202	lysosomal lumen	TAS	cellular_component
GO:0048471	perinuclear region of cyt oplasm	IEA	cellular_component
GO:0051180	vitamin transport	IEA	biological_process
GO:0051183	vitamin transporter activ ity	IEA	molecular_function
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0072562	blood microparticle	IDA	cellular_component
GO:1902118	calcidiol binding	IDA	molecular_function
GO:0003779	actin binding	IEA	molecular_function
GO:0003779	actin binding	IPI	molecular_function
GO:0005499	vitamin D binding	IEA	molecular_function
GO:0005499	vitamin D binding	IEA	molecular_function
GO:0005499	vitamin D binding	IEA	molecular_function
GO:0005499	vitamin D binding	TAS	molecular_function
GO:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	NAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005615	extracellular space	IEA	cellular_component
GO:0005615	extracellular space	IEA	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0005829	cytosol	IEA	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0006810	transport	IEA	biological_process
GO:0006810	transport	IEA	biological_process
GO:0007565	female pregnancy	IEA	biological_process
GO:0007595	lactation	IEA	biological_process
GO:0030424	axon	IEA	cellular_component
GO:0031667	response to nutrient leve ls	IEA	biological_process
GO:0032355	response to estradiol	IEA	biological_process
GO:0042359	vitamin D metabolic proce ss	IEA	biological_process
GO:0042359	vitamin D metabolic proce ss	TAS	biological_process
GO:0043202	lysosomal lumen	TAS	cellular_component
GO:0043202	lysosomal lumen	TAS	cellular_component
GO:0048471	perinuclear region of cyt oplasm	IEA	cellular_component
GO:0048545	response to steroid hormo ne	IEA	biological_process
GO:0051180	vitamin transport	IEA	biological_process
GO:0051180	vitamin transport	TAS	biological_process
GO:0051183	vitamin transporter activ ity	IEA	molecular_function
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0072562	blood microparticle	IDA	cellular_component
GO:1902118	calcidiol binding	IDA	molecular_function
GO:0003779	actin binding	IPI	molecular_function
GO:0005499	vitamin D binding	TAS	molecular_function
GO:0005576	extracellular region	NAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0005829	cytosol	TAS	cellular_component
GO:0042359	vitamin D metabolic proce ss	TAS	biological_process
GO:0043202	lysosomal lumen	TAS	cellular_component
GO:0043202	lysosomal lumen	TAS	cellular_component
GO:0051180	vitamin transport	TAS	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0072562	blood microparticle	IDA	cellular_component
GO:1902118	calcidiol binding	IDA	molecular_function

Diseases

Associated diseases	References
Alzheimer's disease	PMID: 15648851
Asthenozoospermia	PMID: 20369545
Asthma	PMID: 16600026
Cancer	PMID: 19692168
Chronic obstructive pulmonary disease (COPD)	PMID: 15059409
Coronary artery disease	PMID: 18612209
Diabetes	PMID: 19479237
Endometriosis	PMID: 22158084
Female infertility	PMID: 7818370
Graves disease	PMID: 12050214
Migraine disorders	PMID: 19559392
Multiple sclerosis	PMID: 12044990
Osteoporosis	PMID: 15230135
Endometriosis	INFBASE22158084
Rheumatoid arthritis	PMID: 2786461

PubMed references

PMID	Condition	Population details	Associated_genes	Abstract
15866120	Endometrio sis	145 (36 women w ith untreated m ild endometrios is (revised cla ssification of the American Fe rtility Society [rAFS] stage I -II), 52 women with untreated severe endometr iosis (rAFS sta ge III-IV), 17 women with endo metriosis treat ed with the ora l contraceptive	DBPE	Show abstract
22158084	Endometrio sis			Show abstract
20980430	Endometrio sis		vitamin D-binding protein	Show abstract