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Gene Gene information from NCBI Gene database.
Entrez ID 4013
Gene name Von Willebrand factor A domain containing 5A
Gene symbol VWA5A
Synonyms (NCBI Gene)
BCSC-1BCSC1LOH11CR2A
Chromosome 11
Chromosome location 11q24.2
miRNA miRNA information provided by mirtarbase database.
95 Show/Hide all (95)
miRTarBase ID miRNA Experiments Reference
MIRT572423 hsa-miR-6761-3p PAR-CLIP 20371350
MIRT572421 hsa-miR-5193 PAR-CLIP 20371350
MIRT572420 hsa-miR-660-3p PAR-CLIP 20371350
MIRT572419 hsa-miR-1291 PAR-CLIP 20371350
MIRT572418 hsa-miR-6775-3p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
2
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005654 Component Nucleoplasm IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602929 6658 ENSG00000110002
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O00534
Protein name von Willebrand factor A domain-containing protein 5A (Breast cancer suppressor candidate 1) (BCSC-1) (Loss of heterozygosity 11 chromosomal region 2 gene A protein)
Protein function May play a role in tumorigenesis as a tumor suppressor. Altered expression of this protein and disruption of the molecular pathway it is involved in, may contribute directly to or modify tumorigenesis.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08487 VIT 17 → 129 Vault protein inter-alpha-trypsin domain Family
PF13768 VWA_3 280 → 443 von Willebrand factor type A domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed at low level in many tissues. Not expressed in 80% of tumor cell lines tested. {ECO:0000269|PubMed:14504409}.
Sequence
MVHFCGLLTLHREPVPLKSISVSVNIYEFVAGVSATLNYENEEKVPLEAFFVFPMDEDSA
VYSFEALVDGKKIVAELQDKMKARTNYEKAISQGHQAFLLEGDSSSRDVFSCNVGNLQPG
SKAAVTLKY
VQELPLEADGALRFVLPAVLNPRYQFSGSSKDSCLNVKTPIVPVEDLPYTL
SMVATIDSQHGIEKVQSNCPLSPTEYLGEDKTSAQVSLAAGHKFDRDVELLIYYNEVHTP
SVVLEMGMPNMKPGHLMGDPSAMVSFYPNIPEDQPSNTCGEFIFLMDRSGSMQSPMSSQD
TSQLRIQAAKETLILLLKSLPIGCYFNIYGFGSSYEACFPESVKYTQQTMEEALGRVKLM
QADLGGTEILAPLQNIYRGPSIPGHPLQLFVFTDGEVTDTFSVIKEVRINRQKHRCFSFG
IGEGTSTSLIKGIARASGGTSEF
ITGKDRMQSKALRTLKRSLQPVVEDVSLSWHLPPGLS
AKMLSPEQTVIFRGQRLISYAQLTGRMPAAETTGEVCLKYTLQGKTFEDKVTFPLQPKPD
VNLTIHRLAAKSLLQTKDMGLRETPASDKKDALNLSLESGVISSFTAFIAINKELNKPVQ
GPLAHRDVPRPILLGASAPLKIKCQSGFRKALHSDRPPSASQPRGELMCYKAKTFQMDDY
SLCGLISHKDQHSPGFGENHLVQLIYHQNANGSWDLNEDLAKILGMSLEEIMAAQPAELV
DSSGWATILAVIWLHSNGKDLKCEWELLERKAVAWMRAHAGSTMPSVVKAAITFLKSSVD
PAIFAF
Sequence length 786
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Reference Evidence Score
Ovarian serous cystadenocarcinoma Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (13)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Breast Carcinoma Breast Carcinoma BEFREE 21803008, 29512758, 29552138
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 21803008 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 38291227 Inhibit
★★★★★
★☆☆☆☆
Found in Text Mining only
Cervix carcinoma Cervix carcinoma BEFREE 21154811
★★★★★
★☆☆☆☆
Found in Text Mining only
Leukemia, Myelocytic, Acute Leukemia GWASCAT_DG 27903959
★★★★★
★☆☆☆☆
Found in Text Mining only
Lymphatic Metastasis Lymphatic metastasis Pubtator 21803008, 38291227 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer BEFREE 29512758, 29552138
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 19656157, 29512758, 29552138
★★★★★
★☆☆☆☆
Found in Text Mining only
melanoma Melanoma BEFREE 22594792
★★★★★
★☆☆☆☆
Found in Text Mining only
Metastatic melanoma Metastatic Melanoma BEFREE 22594792
★★★★★
★☆☆☆☆
Found in Text Mining only