Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
29780
Gene name Gene Name - the full gene name approved by the HGNC.
Parvin beta
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PARVB
Synonyms (NCBI Gene) Gene synonyms aliases
CGI-56
Chromosome Chromosome number
22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q13.31
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the parvin family of actin-binding proteins, which play a role in cytoskeleton organization and cell adhesion. These proteins are associated with focal contacts and contain calponin homology domains that bind to actin filamen
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT032339 hsa-let-7b-5p Proteomics 18668040
MIRT725264 hsa-miR-6893-3p HITS-CLIP 19536157
MIRT725263 hsa-miR-370-3p HITS-CLIP 19536157
MIRT725262 hsa-miR-1306-5p HITS-CLIP 19536157
MIRT725261 hsa-miR-6884-3p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003779 Function Actin binding IBA 21873635
GO:0005515 Function Protein binding IPI 18325335
GO:0005737 Component Cytoplasm IBA 21873635
GO:0005829 Component Cytosol TAS
GO:0005886 Component Plasma membrane IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608121 14653 ENSG00000188677
Protein
UniProt ID Q9HBI1
Protein name Beta-parvin (Affixin)
Protein function Adapter protein that plays a role in integrin signaling via ILK and in activation of the GTPases CDC42 and RAC1 by guanine exchange factors, such as ARHGEF6. Is involved in the reorganization of the actin cytoskeleton and formation of lamellipod
PDB 4EDL , 4EDM , 4EDN
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00307 CH 87 195 Calponin homology (CH) domain Domain
PF00307 CH 254 362 Calponin homology (CH) domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed predominantly in heart and skeletal muscle. {ECO:0000269|PubMed:11402068, ECO:0000269|PubMed:11722847}.
Sequence
MSSAPRSPTPRPRRMKKDESFLGKLGGTLARKRRAREVSDLQEEGKNAINSPMSPALVDV
HPEDTQLEENEERTMIDPTSKEDPKFKELVKVLLDWINDVLVEERIIVKQLEEDLYDGQV
LQKLLEKLAGCKLNVAEVTQSEIGQKQKLQTVLEAVHDLLRPRGWALRWSVDSIHGKNLV
AILHLLVSLAMHFRA
PIRLPEHVTVQVVVVRKREGLLHSSHISEELTTTTEMMMGRFERD
AFDTLFDHAPDKLSVVKKSLITFVNKHLNKLNLEVTELETQFADGVYLVLLMGLLEDYFV
PLHHFYLTPESFDQKVHNVSFAFELMLDGGLKKPKARPEDVVNLDLKSTLRVLYNLFTKY
KN
VE
Sequence length 364
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Focal adhesion   Cell-extracellular matrix interactions
Regulation of cytoskeletal remodeling and cell spreading by IPP complex components
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Alzheimer disease Alzheimer`s Disease rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039
View all (65 more)
23535033
Breast carcinoma Breast Carcinoma rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451
View all (71 more)
25117820
Unknown
Disease term Disease name Evidence References Source
Lewy Body Disease Lewy Body Disease GWAS
Breast Cancer Breast Cancer Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients GWAS, CBGDA
Associations from Text Mining
Disease Name Relationship Type References
Arrhythmogenic Right Ventricular Dysplasia Associate 31843279
Breast Neoplasms Inhibit 26549231
Carcinogenesis Associate 18722108
Cerebral Hemorrhage Associate 29915124
Chondrosarcoma Associate 18722108
Choroidal Effusions Associate 23099104
Coronary Restenosis Associate 23950981
Fatty Liver Associate 29271184
Fibrosis Associate 23535911
Histiocytoma Angiomatoid Fibrous Associate 35347249