Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4013
Gene name Gene Name - the full gene name approved by the HGNC.
Von Willebrand factor A domain containing 5A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
VWA5A
Synonyms (NCBI Gene) Gene synonyms aliases
BCSC-1, BCSC1, LOH11CR2A
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q24.2
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005654 Component Nucleoplasm IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602929 6658 ENSG00000110002
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Leukemia Leukemia, Myelocytic, Acute rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297 27903959
Associations from Text Mining
Disease Name Relationship Type References
Breast Neoplasms Associate 21803008
Breast Neoplasms Inhibit 38291227
Lymphatic Metastasis Associate 21803008, 38291227
Neoplasm Metastasis Inhibit 38291227
Neoplasms Associate 21803008
Schizophrenia Associate 34716291