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.... See more...

Aliases for GC Gene

Aliases for GC Gene

  • GC Vitamin D Binding Protein 2 3 5
  • DBP 2 3 4
  • Vitamin D-Binding Protein-Macrophage Activating Factor 3 4
  • Group-Specific Component (Vitamin D Binding Protein) 2 3
  • Gc Protein-Derived Macrophage Activating Factor 3 4
  • Vitamin D-Binding Protein 3 4
  • Gc-Globulin 3 4
  • DBP-Maf 3 4
  • Gc-MAF 3 4
  • GcMAF 3 4
  • VDBP 2 3
  • VDB 3 4
  • Epididymis Secretory Protein Li 51 3
  • Vitamin D-Binding Alpha-Globulin 3
  • GC, Vitamin D Binding Protein 2
  • Group-Specific Component 4
  • EC 6.3.1.5 51
  • HEL-S-51 3
  • DBP/GC 3
  • GRD3 3
  • VDBG 3
  • HDBP 2
  • GC 5
  • Gc 4

External Ids for GC Gene

Previous GeneCards Identifiers for GC Gene

  • GC04M072596
  • GC04M072847
  • GC04M073008
  • GC04M073073
  • GC04M072972
  • GC04M072826
  • GC04M068412

Summaries for GC Gene

Entrez Gene Summary for GC Gene

  • 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]

GeneCards Summary for GC Gene

GC (GC Vitamin D Binding Protein) is a Protein Coding gene. Diseases associated with GC include Rickets and Acute Liver Failure. Among its related pathways are Metabolism of fat-soluble vitamins and Metabolism of water-soluble vitamins and cofactors. Gene Ontology (GO) annotations related to this gene include actin binding. An important paralog of this gene is ALB.

UniProtKB/Swiss-Prot Summary for GC Gene

  • 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.

Gene Wiki entry for GC Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GC Gene

Genomics for GC Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GC Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J071784 Promoter 0.8 EPDnew 600.4 +21.4 21421 0.1 CTCF REST SP1 FOXA2 YY1 ZBTB33 JUND RAD21 HNF4A EGR1 GC RNA5SP163 SLC4A4
GH04J071805 Enhancer 0.2 Ensembl 600.7 +0.0 19 0.2 GC RNA5SP163 SLC4A4
GH04J071771 Enhancer 0.6 FANTOM5 40.5 +33.8 33763 0.2 REST SP1 CEBPA ATF3 YY1 JUND RAD21 HNF4A RXRA TAF1 GC RNA5SP163 SLC4A4
GH04J071856 Enhancer 1.3 VISTA ENCODE 5.5 -52.2 -52167 3.4 TEAD4 PRDM10 LEF1 IKZF1 JUND DDX20 MTA2 PHF21A PKNOX1 MTA1 GC ENSG00000248567 HSALNG0035092 NPFFR2
GH04J071754 Enhancer 0.2 Ensembl 11.3 +52.4 52419 0.2 lnc-ADAMTS3-1 GC piR-37223-006 SLC4A4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GC on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GC

Top Transcription factor binding sites by QIAGEN in the GC gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • C/EBPalpha
  • GR
  • GR-alpha
  • HSF1 (long)
  • HSF1short
  • Nkx2-5

Genomic Locations for GC Gene

Genomic Locations for GC Gene
chr4:71,741,693-71,805,520
(GRCh38/hg38)
Size:
63,828 bases
Orientation:
Minus strand
chr4:72,607,410-72,671,237
(GRCh37/hg19)
Size:
63,828 bases
Orientation:
Minus strand

Genomic View for GC Gene

Genes around GC on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GC Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GC Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GC Gene

Proteins for GC Gene

  • Protein details for GC Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P02774-VTDB_HUMAN
    Recommended name:
    Vitamin D-binding protein
    Protein Accession:
    P02774
    Secondary Accessions:
    • B4DPP2
    • D6RAK8
    • Q16309
    • Q16310
    • Q53F31
    • Q6GTG1

    Protein attributes for GC Gene

    Size:
    474 amino acids
    Molecular mass:
    52918 Da
    Quaternary structure:
    • Associates with membrane-bound immunoglobulin on the surface of B-lymphocytes and with IgG Fc receptor on the membranes of T-lymphocytes. Interacts with LRP2; the interaction is required for renal uptake of GC in complex with 25-hydroxyvitamin D3 (By similarity).
    SequenceCaution:
    • Sequence=BAG60654.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 2]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Three dimensional structures from OCA and Proteopedia for GC Gene

    Alternative splice isoforms for GC Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GC Gene

Selected DME Specific Peptides for GC Gene

P02774:
  • PTADLED
  • KVPTADL

Post-translational modifications for GC Gene

  • Allele GC*1S is O-glycosylated at Thr-436 (PubMed:20079467). The trisaccharide sugar moiety can be modified by the successive removal of neuraminic acid and galactose leaving an O-mceeN-acetyl-galactosamine. This conversion is thought to produce a macrophage-activating factor (Gc-MAF). Only a minor proportion of plasma GC is O-glycosylated (PubMed:17360250). The potential N-glycosylation site predicted at Asn-288 is thought to be nonglycosylated.
  • Glycosylation at Asn288
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • VTDB_HUMAN (619)

Antibody Products

  • Invitrogen Antibodies for GC (AFLGC-GC)

Domains & Families for GC Gene

Gene Families for GC Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted secreted proteins

Protein Domains for GC Gene

InterPro:
Blocks:
  • Serum albumin family
  • Vitamin D-binding protein signature
ProtoNet:

Suggested Antigen Peptide Sequences for GC Gene

GenScript: Design optimal peptide antigens:
  • Group-specific component (VTDB_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P02774

UniProtKB/Swiss-Prot:

VTDB_HUMAN :
  • Belongs to the ALB/AFP/VDB family.
Family:
  • Belongs to the ALB/AFP/VDB family.
genes like me logo Genes that share domains with GC: view

Function for GC Gene

Molecular function for GC Gene

UniProtKB/Swiss-Prot 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.
GENATLAS Biochemistry:
group-specific component (vitamin D binding protein),52.9kDa,found in plasma,CSF,urine and the cell surface of many cell types

Enzyme Numbers (IUBMB) for GC Gene

Phenotypes From GWAS Catalog for GC Gene

Gene Ontology (GO) - Molecular Function for GC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IPI 12119014
GO:0005499 vitamin D binding IEA,IBA 21873635
GO:0090482 vitamin transmembrane transporter activity IEA --
GO:1902118 calcidiol binding IDA 11799400
genes like me logo Genes that share ontologies with GC: view
genes like me logo Genes that share phenotypes with GC: view

Animal Models for GC Gene

MGI Knock Outs for GC:
  • Gc Gc<tm1.1(KOMP)Vlcg>
  • Gc Gc<tm1Nec>

Animal Model Products

CRISPR Products

miRNA for GC Gene

miRTarBase miRNAs that target GC

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GC

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GC Gene

Localization for GC Gene

Subcellular locations from UniProtKB/Swiss-Prot for GC Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GC gene
Compartment Confidence
extracellular 5
cytosol 4
lysosome 4
plasma membrane 2
cytoskeleton 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
peroxisome 1
endosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for GC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IEA,HDA 16502470
GO:0005737 cytoplasm IBA 21873635
GO:0005829 cytosol TAS --
GO:0043202 lysosomal lumen TAS --
genes like me logo Genes that share ontologies with GC: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GC Gene

Pathways & Interactions for GC Gene

genes like me logo Genes that share pathways with GC: view

Pathways by source for GC Gene

Gene Ontology (GO) - Biological Process for GC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IBA 21873635
GO:0035461 vitamin transmembrane transport IEA --
GO:0042359 vitamin D metabolic process IEA,TAS --
GO:0051180 vitamin transport IEA,TAS 1696927
genes like me logo Genes that share ontologies with GC: view

No data available for SIGNOR curated interactions for GC Gene

Drugs & Compounds for GC Gene

(33) Drugs for GC Gene - From: DrugBank, PharmGKB, ClinicalTrials, ApexBio, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcitriol Approved Nutra Carrier, binder TNF-α and IL-1β production inhibitor, Vitamin D receptor (VDR) agonist 175
Vitamin D Approved, Vet_approved Nutra Target 2168
Alfacalcidol Approved Nutra Carrier, substrate Bone resorption inhibitor 57
oleic acid Approved, Investigational, Vet_approved Pharma Agonist, Full agonist, Activator, Activation, Carrier 0
Ergocalciferol Approved Nutra Carrier, binder 415

(26) Additional Compounds for GC Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(2) ApexBio Compounds for GC Gene

Compound Action Cas Number
Calcitriol TNF-α and IL-1β production inhibitor 32222-06-3
Doxercalciferol Vitamin D receptor activator 54573-75-0
genes like me logo Genes that share compounds with GC: view

Transcripts for GC Gene

mRNA/cDNA for GC Gene

3 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GC

Alternative Splicing Database (ASD) splice patterns (SP) for GC Gene

No ASD Table

Relevant External Links for GC Gene

GeneLoc Exon Structure for
GC

Expression for GC Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GC Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GC Gene

This gene is overexpressed in Liver (x52.0).

Protein differential expression in normal tissues from HIPED for GC Gene

This gene is overexpressed in Serum (16.3), Plasma (12.8), and Vitreous humor (8.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for GC Gene



Protein tissue co-expression partners for GC Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GC

SOURCE GeneReport for Unigene cluster for GC Gene:

Hs.418497

mRNA Expression by UniProt/SwissProt for GC Gene:

P02774-VTDB_HUMAN
Tissue specificity: Expressed in the liver. Found in plasma, ascites, cerebrospinal fluid and urine.

Evidence on tissue expression from TISSUES for GC Gene

  • Liver(5)
  • Kidney(4.7)
  • Heart(3.9)
  • Pancreas(3.7)
  • Blood(3.3)
  • Intestine(3.1)
  • Gall bladder(2.8)
  • Nervous system(2.6)
  • Muscle(2.6)
  • Spleen(2.5)
  • Urine(2.5)
  • Stomach(2.4)
  • Skin(2.3)
  • Thyroid gland(2.3)
  • Lung(2.2)
  • Adrenal gland(2.1)
  • Eye(2.1)
  • Bone(2.1)
genes like me logo Genes that share expression patterns with GC: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for GC Gene

Orthologs for GC Gene

This gene was present in the common ancestor of chordates.

Orthologs for GC Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia GC 30 31
  • 99.51 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia GC 30 31
  • 84.6 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia GC 30 31
  • 84.6 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Gc 30 17 31
  • 80.45 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Gc 30
  • 80.31 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia GC 31
  • 56 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 55 (a)
OneToMany
-- 31
  • 52 (a)
OneToMany
Chicken
(Gallus gallus)
Aves GC 30 31
  • 59.36 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia GC 31
  • 43 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia gc 30
  • 55.44 (n)
Zebrafish
(Danio rerio)
Actinopterygii gc 30 31
  • 46.74 (n)
OneToOne
Species where no ortholog for GC was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for GC Gene

ENSEMBL:
Gene Tree for GC (if available)
TreeFam:
Gene Tree for GC (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GC: view image

Paralogs for GC Gene

Paralogs for GC Gene

genes like me logo Genes that share paralogs with GC: view

Variants for GC Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for GC Gene

VTDB_HUMAN-P02774
Over 80 variants of human DBP have been identified. The three most common alleles are called GC*1F, GC*1S, and GC*2. The sequence shown is that of the GC*1A1 allele.

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GC Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
720049 Likely Benign: not provided 71,763,401(-) T/C INTRON_VARIANT
732690 Benign: not provided 71,752,580(-) G/A MISSENSE_VARIANT
748418 Likely Benign: not provided 71,755,091(-) T/C MISSENSE_VARIANT
748733 Benign: not provided 71,763,912(-) A/G SYNONYMOUS_VARIANT
773155 Likely Benign: not provided 71,763,422(-) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for GC Gene

Structural Variations from Database of Genomic Variants (DGV) for GC Gene

Variant ID Type Subtype PubMed ID
esv3600956 CNV loss 21293372
esv3600957 CNV gain 21293372
nsv437395 CNV loss 16327808
nsv822615 CNV gain 20364138
nsv829967 CNV loss 17160897

Variation tolerance for GC Gene

Residual Variation Intolerance Score: 74% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.28; 40.91% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GC Gene

Human Gene Mutation Database (HGMD)
GC
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GC

SNP Genotyping and Copy Number Assay Products

Disorders for GC Gene

MalaCards: The human disease database

(27) MalaCards diseases for GC Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
rickets
  • active rickets
acute liver failure
  • acute hepatic failure
hepatic encephalopathy
  • portal-systemic encephalopathy
osteoporosis, juvenile
  • idiopathic juvenile osteoporosis; ijo
paracetamol poisoning
  • acetaminophen poisoning
- elite association - COSMIC cancer census association via MalaCards
Search GC in MalaCards View complete list of genes associated with diseases

Additional Disease Information for GC

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with GC: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GC Gene

Publications for GC Gene

  1. The glycosylation and characterization of the candidate Gc macrophage activating factor. (PMID: 20079467) Ravnsborg T … Højrup P (Biochimica et biophysica acta 2010) 3 4 23
  2. Genetic polymorphisms of the vitamin D binding protein and plasma concentrations of 25-hydroxyvitamin D in premenopausal women. (PMID: 19116321) Sinotte M … Brisson J (The American journal of clinical nutrition 2009) 3 23 41
  3. Vitamin D-related genes, serum vitamin D concentrations and prostate cancer risk. (PMID: 19255064) Ahn J … Prostate, Lung, Colorectal and Ovarian Trial Project Team (Carcinogenesis 2009) 3 23 41
  4. The Gc2 allele of the vitamin D binding protein is associated with a decreased postmenopausal breast cancer risk, independent of the vitamin D status. (PMID: 18559548) Abbas S … Chang-Claude J (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2008) 3 23 41
  5. Vitamin D pathway gene polymorphisms, diet, and risk of postmenopausal breast cancer: a nested case-control study. (PMID: 17244366) McCullough ML … Calle EE (Breast cancer research : BCR 2007) 3 23 41

Products for GC Gene

Sources for GC Gene