Gene Gene information from NCBI Gene database.
Entrez ID 55742
Gene name Parvin alpha
Gene symbol PARVA
Synonyms (NCBI Gene)
CH-ILKBPMXRA2
Chromosome 11
Chromosome location 11p15.3
Summary This gene encodes a member of the parvin family of actin-binding proteins. Parvins are associated with focal contacts and contain calponin homology domains that bind to actin filaments. The encoded protein is part of the integrin-linked kinase signaling c
miRNA miRNA information provided by mirtarbase database.
670
miRTarBase ID miRNA Experiments Reference
MIRT023795 hsa-miR-1-3p Proteomics 18668040
MIRT667059 hsa-miR-5195-5p HITS-CLIP 23824327
MIRT667058 hsa-miR-483-3p HITS-CLIP 23824327
MIRT667057 hsa-miR-4485-5p HITS-CLIP 23824327
MIRT667056 hsa-miR-5193 HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
40
GO ID Ontology Definition Evidence Reference
GO:0001525 Process Angiogenesis IEA
GO:0002040 Process Sprouting angiogenesis ISS
GO:0003148 Process Outflow tract septum morphogenesis ISS
GO:0003779 Function Actin binding IBA
GO:0003779 Function Actin binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608120 14652 ENSG00000197702
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NVD7
Protein name Alpha-parvin (Actopaxin) (CH-ILKBP) (Calponin-like integrin-linked kinase-binding protein) (Matrix-remodeling-associated protein 2)
Protein function Plays a role in sarcomere organization and in smooth muscle cell contraction. Required for normal development of the embryonic cardiovascular system, and for normal septation of the heart outflow tract. Plays a role in sprouting angiogenesis and
PDB 2K2R , 2VZC , 2VZD , 2VZG , 2VZI , 3KMU , 3KMW , 3REP , 6MIB
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00307 CH 95 203 Calponin homology (CH) domain Domain
PF00307 CH 262 370 Calponin homology (CH) domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed, with highest levels in heart, skeletal muscle, kidney and liver. {ECO:0000269|PubMed:11134073, ECO:0000269|PubMed:11331308, ECO:0000269|PubMed:11722847}.
Sequence
MATSPQKSPSVPKSPTPKSPPSRKKDDSFLGKLGGTLARRKKAKEVSELQEEGMNAINLP
LSPIPFELDPEDTMLEENEVRTMVDPNSRSDPKLQELMKVLIDWINDVLVGERIIVKDLA
EDLYDGQVLQKLFEKLESEKLNVAEVTQSEIAQKQKLQTVLEKINETLKLPPRSIKWNVD
SVHAKSLVAILHLLVALSQYFRA
PIRLPDHVSIQVVVVQKREGILQSRQIQEEITGNTEA
LSGRHERDAFDTLFDHAPDKLNVVKKTLITFVNKHLNKLNLEVTELETQFADGVYLVLLM
GLLEGYFVPLHSFFLTPDSFEQKVLNVSFAFELMQDGGLEKPKPRPEDIVNCDLKSTLRV
LYNLFTKYRN
VE
Sequence length 372
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Focal adhesion   Localization of the PINCH-ILK-PARVIN complex to focal adhesions
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.).
9
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
ANDROGENETIC ALOPECIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Breast Neoplasms Stimulate 22955285
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Associate 31296919, 39329755
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Associate 18722108
★☆☆☆☆
Found in Text Mining only
Chondrosarcoma Associate 18722108
★☆☆☆☆
Found in Text Mining only
Choroidal Effusions Associate 23099104
★☆☆☆☆
Found in Text Mining only
Neoplasm Metastasis Associate 23099104, 39329755
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 18722108, 22955285, 23099104
★☆☆☆☆
Found in Text Mining only
Neoplasms Squamous Cell Associate 29914539
★☆☆☆☆
Found in Text Mining only
Osteosarcoma Associate 22955285
★☆☆☆☆
Found in Text Mining only
Ovarian Neoplasms Associate 23099104
★☆☆☆☆
Found in Text Mining only