Gene Gene information from NCBI Gene database.
Entrez ID 29780
Gene name Parvin beta
Gene symbol PARVB
Synonyms (NCBI Gene)
CGI-56
Chromosome 22
Chromosome location 22q13.31
Summary 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.
248
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
33
GO ID Ontology Definition Evidence Reference
GO:0003779 Function Actin binding IBA
GO:0003779 Function Actin binding IEA
GO:0005515 Function Protein binding IPI 18325335
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608121 14653 ENSG00000188677
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
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 Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANTI-CENTROMERE-ANTIBODY-POSITIVE SYSTEMIC SCLERODERMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INTRACEREBRAL HEMORRHAGE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer`s Disease Alzheimer disease GWASDB_DG 23535033
★☆☆☆☆
Found in Text Mining only
Alzheimer`s Disease Alzheimer disease GWASCAT_DG 23535033
★☆☆☆☆
Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia Arrhythmogenic right ventricular cardiomyopathy Pubtator 31843279 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 15467740, 17998334
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma GWASCAT_DG 25117820
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 26549231 Inhibit
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 18722108 Associate
★☆☆☆☆
Found in Text Mining only
Cerebral Hemorrhage Cerebral hemorrhage Pubtator 29915124 Associate
★☆☆☆☆
Found in Text Mining only
Chondrosarcoma Chondrosarcoma Pubtator 18722108 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 26115385
★☆☆☆☆
Found in Text Mining only