VWCE (von Willebrand factor C and EGF domains)

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Gene Gene information from NCBI Gene database.
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Entrez ID 220001
Gene name Von Willebrand factor C and EGF domains
Gene symbol VWCE
Synonyms (NCBI Gene)
URG11VWC1
Chromosome 11
Chromosome location 11q12.2
SNPs SNP information provided by dbSNP.
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SNP ID Visualize variation Clinical significance Consequence
rs537353127 G>A,C,T Pathogenic Missense variant, synonymous variant, intron variant, coding sequence variant, non coding transcript variant, stop gained
miRNA miRNA information provided by mirtarbase database.
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miRTarBase ID miRNA Experiments Reference
MIRT755348 hsa-miR-21-3p RNA-seq 38540371
MIRT2147038 hsa-miR-3120-3p CLIP-seq
MIRT2147039 hsa-miR-600 CLIP-seq
MIRT2367583 hsa-miR-2467-3p CLIP-seq
MIRT2367584 hsa-miR-4257 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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GO ID Ontology Definition Evidence Reference
GO:0005509 Function Calcium ion binding IEA
GO:0005515 Function Protein binding IPI 21653829, 28514442, 32296183, 33961781
GO:0005576 Component Extracellular region IEA
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IDA 16496348
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
611115 26487 ENSG00000167992
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96DN2
Protein name von Willebrand factor C and EGF domain-containing protein (HBV X protein up-regulated gene 11 protein) (HBxAg up-regulated gene 11 protein)
Protein function May be a regulatory element in the beta-catenin signaling pathway and a target for chemoprevention of hapatocellular carcinoma.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00093 VWC 501 → 559 von Willebrand factor type C domain Family
PF00093 VWC 386 → 440 von Willebrand factor type C domain Family
PF00093 VWC 629 → 684 von Willebrand factor type C domain Family
PF00093 VWC 687 → 742 von Willebrand factor type C domain Family
PF07645 EGF_CA 220 → 261 Calcium-binding EGF domain Domain
PF07645 EGF_CA 142 → 179 Calcium-binding EGF domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in liver. {ECO:0000269|PubMed:16496348}.
Sequence 
MWAGLLLRAACVALLLPGAPARGYTGRKPPGHFAAERRRLGPHVCLSGFGSGCCPGWAPS
MGGGHCTLPLCSFGCGSGICIAPNVCSCQDGEQGATCPETHGPCGEYGCDLTCNHGGCQE
VARVCPVGFSMTETAVGIRCTDIDECVTSSCEGHCVNTEGGFVCECGPGMQLSADRHSCQ
DTDECLGTPCQQRCKNSIGSYKCSCRTGFHLHGNRHSCVDVNECRRPLERRVCHHSCHNT
VGSFLCTCRPGFRLRADRVSCEAFPKAVLAPSAILQPRQHPSKMLLLLPEAGRPALSPGH
SPPSGAPGPPAGVRTTRLPSPTPRLPTSSPSAPVWLLSTLLATPVPTASLLGNLRPPSLL
QGEVMGTPSSPRGPESPRLAAGPSPCWHLGAMHESRSRWTEPGCSQCWCEDGKVTCEKVR
CEAACSHPIPSRDGGCCPSCTGCFHSGVVRAEGDVFSPPNENCTVCVCLAGNVSCISPEC
PSGPCQTPPQTDCCTCVPVRCYFHGRWYADGAVFSGGGDECTTCVCQNGEVECSFMPCPE
LACPREEWRLGPGQCCFTCQEPTPSTGCSLDDNGVEFPIGQIWSPGDPCELCICQADGSV
SCKRTDCVDSCPHPIRIPGQCCPDCSAGCTYTGRIFYNNETFPSVLDPCLSCICLLGSVA
CSPVDCPITCTYPFHPDGECCPVCRDCNYEGRKVANGQVFTLDDEPCTRCTCQLGEVSCE
KVPCQRACADPALLPGDCCSSCPDSLSPLEEKQGLSPHGNVAFSKAGRSLHGDTEAPVNC
SSCPGPPTASPSRPVLHLLQLLLRTNLMKTQTLPTSPAGAHGPHSLALGLTATFPGEPGA
SPRLSPGPSTPPGAPTLPLASPGAPQPPPVTPERSFSASGAQIVSRWPPLPGTLLTEASA
LSMMDPSPSKTPITLLGPRVLSPTTSRLSTALAATTHPGPQQPPVGASRGEESTM
Sequence length 955
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Short stature Pathogenic rs537353127 RCV000736183
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (20)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Benign Prostatic Hyperplasia Benign Prostatic Hyperplasia BEFREE 29749520
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 19413886 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 38063988 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Liver carcinoma Liver carcinoma BEFREE 12869306, 16496348, 19413886, 20725996
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of pancreas Pancreatic cancer BEFREE 24930007
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of prostate Prostate cancer BEFREE 29955600, 30864678
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of stomach Stomach Neoplasms BEFREE 19413886
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 19413886, 30864678
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant tumor of colon Colonic Neoplasms BEFREE 29955600
★★★★★
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 12869306, 29955600
★★★★★
★☆☆☆☆
Found in Text Mining only

No strongly related genes found yet for VWCE.

No additional diseases found yet through genes similar to VWCE.