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GeneE
26 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
GC
GC vitamin D binding protein
Chromosome 4 Β· 4q13.3
NCBI Gene: 2638Ensembl: ENSG00000145321.14HGNC: HGNC:4187UniProt: P02774
401PubMed Papers
20Diseases
0Drugs
9Pathogenic Variants
FUNCTIONAL ROLE
Transporter
RESEARCH IMPACT
Highly Studied
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
actin bindingblood microparticleGO:0005615calcidiol bindingvitamin D deficiencyvitamin deficiency disorderchronic obstructive pulmonary diseasesquamous cell carcinoma
✦AI Summary

Based on the provided abstracts, there is insufficient information to provide a comprehensive summary of the GC (GC vitamin D binding protein) gene function. The abstracts primarily discuss unrelated topics including gastric cancer metastasis 1, X-chromosome 4 evolution 2, human genome composition 3, gas chr4 methods 4, granulosa cell transcriptomics 5, ubiquitin-specific proteases in gastric cancer 6, minimal intron evolution 7, and forensic decomposition analysis 8. None of these abstracts contain information about the GC vitamin D binding protein gene, its molecular mechanisms, disease associations, or clinical significance. While the UniProt annotation indicates the protein is involved in vitamin D transport and storage, actin scavenging, and inflammatory responses, these functions cannot be verified or elaborated upon using the provided literature. To generate an accurate gene function summary for GC, abstracts specifically addressing vitamin D binding protein research would be required.

Sources cited
1
Study focuses on gastric cancer metastasis mechanisms, not GC vitamin D binding protein
PMID: 33563300
2
Analyzes X-chromosome palindrome evolution, unrelated to GC gene function
PMID: 34849781
3
Describes human genome composition parameters, not specific gene functions
PMID: 30813969
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
vitamin D deficiencyOpen Targets
0.56Moderate
vitamin deficiency disorderOpen Targets
0.54Moderate
chronic obstructive pulmonary diseaseOpen Targets
0.50Moderate
squamous cell carcinomaOpen Targets
0.33Weak
central nervous system cancerOpen Targets
0.32Weak
placental retentionOpen Targets
0.32Weak
coronary artery calcificationOpen Targets
0.28Weak
Abruptio PlacentaeOpen Targets
0.25Weak
cervical carcinomaOpen Targets
0.24Weak
Abnormality of the skeletal systemOpen Targets
0.23Weak
COVID-19Open Targets
0.22Weak
preeclampsiaOpen Targets
0.20Weak
Genetic renal or urinary tract malformationOpen Targets
0.19Weak
placenta praeviaOpen Targets
0.18Weak
self-injurious ideationOpen Targets
0.14Weak
adolescent idiopathic scoliosisOpen Targets
0.14Weak
Abnormality of refractionOpen Targets
0.12Weak
type 1 diabetes mellitusOpen Targets
0.10Weak
hepatocellular carcinomaOpen Targets
0.10Suggestive
endometriosisOpen Targets
0.09Suggestive
Pathogenic Variants9
NM_000583.4(GC):c.1368C>A (p.Asn456Lys)Likely pathogenic
Chronic obstructive pulmonary disease
β˜†β˜†β˜†β˜†β†’ Residue 456
NM_000583.4(GC):c.1322_1323insTG (p.Val442fs)Likely pathogenic
Chronic obstructive pulmonary disease
β˜†β˜†β˜†β˜†β†’ Residue 442
NM_000583.4(GC):c.1328del (p.Asn443fs)Likely pathogenic
Chronic obstructive pulmonary disease
β˜†β˜†β˜†β˜†β†’ Residue 443
NM_000583.4(GC):c.1349C>G (p.Ser450Cys)Likely pathogenic
Chronic obstructive pulmonary disease
β˜†β˜†β˜†β˜†β†’ Residue 450
NM_000583.4(GC):c.1364T>C (p.Ile455Thr)Likely pathogenic
Chronic obstructive pulmonary disease
β˜†β˜†β˜†β˜†β†’ Residue 455
NM_000583.4(GC):c.1330A>T (p.Lys444Ter)Likely pathogenic
Chronic obstructive pulmonary disease
β˜†β˜†β˜†β˜†β†’ Residue 444
NM_000583.4(GC):c.1324dup (p.Val442fs)Likely pathogenic
Chronic obstructive pulmonary disease
β˜†β˜†β˜†β˜†β†’ Residue 442
NM_000583.4(GC):c.1327_1328insT (p.Asn443fs)Likely pathogenic
Chronic obstructive pulmonary disease
β˜†β˜†β˜†β˜†β†’ Residue 443
NM_000583.4(GC):c.1366A>T (p.Asn456Tyr)Pathogenic
Chronic obstructive pulmonary disease
β˜†β˜†β˜†β˜†β†’ Residue 456
View on ClinVar β†—
Related Genes
RBP4Protein interaction100%APOA2Protein interaction99%F2Protein interaction98%ACTA2Protein interaction97%ACTC1Protein interaction97%PLGProtein interaction94%
Tissue Expression6 tissues
Liver
100%
Heart
0%
Brain
0%
Ovary
0%
Lung
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
GCRBP4APOA2F2ACTA2ACTC1PLG
PROTEIN STRUCTURE
Preparing viewer…
PDB1KXP Β· 2.10 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.49LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.02 [0.71–1.49]
RankingsWhere GC stands among ~20K protein-coding genes
  • #728of 20,598
    Most Researched401 Β· top 5%
  • #2,908of 5,498
    Most Pathogenic Variants9
  • #15,130of 17,882
    Most Constrained (LOEUF)1.49
Genes detectedGC
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
HOXA10 mediates epithelial-mesenchymal transition to promote gastric cancer metastasis partly via modulation of TGFB2/Smad/METTL3 signaling axis.
PMID: 33563300
J Exp Clin Cancer Res Β· 2021
1.00
2
GC-biased gene conversion in X-chromosome palindromes conserved in human, chimpanzee, and rhesus macaque.
PMID: 34849781
G3 (Bethesda) Β· 2021
0.90
3
On the length, weight and GC content of the human genome.
PMID: 30813969
BMC Res Notes Β· 2019
0.80
4
Tumor-mesothelium HOXA11-PDGF BB/TGF Ξ²1-miR-181a-5p-Egr1 feedforward amplifier circuity propels mesothelial fibrosis and peritoneal metastasis of gastric cancer.
PMID: 37989866
Oncogene Β· 2024
0.76
5
Gas chromatography-olfactometry.
PMID: 17069240
J Sep Sci Β· 2006
0.70