Gene Gene information from NCBI Gene database.
Entrez ID 9749
Gene name Phosphatase and actin regulator 2
Gene symbol PHACTR2
Synonyms (NCBI Gene)
C6orf56
Chromosome 6
Chromosome location 6q24.2
miRNA miRNA information provided by mirtarbase database.
767
miRTarBase ID miRNA Experiments Reference
MIRT023052 hsa-miR-124-3p Microarray 18668037
MIRT030971 hsa-miR-21-5p Microarray 18591254
MIRT045328 hsa-miR-185-5p CLASH 23622248
MIRT043915 hsa-miR-378a-3p CLASH 23622248
MIRT437590 hsa-miR-140-5p MicroarrayqRT-PCR 22815788
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
8
GO ID Ontology Definition Evidence Reference
GO:0003779 Function Actin binding IBA
GO:0003779 Function Actin binding IEA
GO:0004864 Function Protein phosphatase inhibitor activity IEA
GO:0005515 Function Protein binding IPI 17474147
GO:0005886 Component Plasma membrane TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608724 20956 ENSG00000112419
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O75167
Protein name Phosphatase and actin regulator 2
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02755 RPEL 61 83 RPEL repeat Disordered
PF02755 RPEL 516 539 RPEL repeat Disordered
Sequence
MDNAVDGLDKASIANSDGPTAGSQTPPFKRKGKLSTIGKIFKPWKWRKKKTSDKFRETSA
VLERKISTRQSREELIRRGVLKELPDQDGDVTVNFENSNGHMIPIGEESTREENVVKSEE
GNGSVSEKTPPLEEQAEDKKENTENHSETPAAPALPPSAPPKPRPKPKPKKSPVPPKGAT
AGASHKGDEVPPIKKNTKAPGKQAPVPPPKPASRNTTREAAGSSHSKKTTGSKASASPST
SSTSSRPKASKETVSSKAGTVGTTKGKRKTDKQPITSHLSSDTTTSGTSDLKGEPAETRV
ESFKLEQTVPGAEEQNTGKFKSMVPPPPVAPAPSPLAPPLPLEDQCITASDTPVVLVSVG
ADLPVSALDPSQLLWAEEPTNRTTLYSGTGLSVNRENAKCFTTKEELGKTVPQLLTPGLM
GESSESFSASEDEGHREYQANDSDSDGPILYTDDEDEDEDEDGSGESALASKIRRRDTLA
IKLGNRPSKKELEDKNILQRTSEEERQEIRQQIGTKLVRRLSQRPTTEELEQRNILKQKN
EEEEQEAKMELKRRLSRKLSLRPTVAELQARRILRFNEYVEVTDSPDYDRRADKPWARLT
PADKAAIRKELNEFKSTEMEVHEESRQFTRFHRP
Sequence length 634
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Platelet degranulation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
16
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
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE 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
Anthracosis Anterior uveitis Pubtator 26223249 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Type 2 Diabetes mellitus, type 2 Pubtator 34560403 Associate
★☆☆☆☆
Found in Text Mining only
Esophageal Squamous Cell Carcinoma Esophageal squamous cell carcinoma Pubtator 33345608 Associate
★☆☆☆☆
Found in Text Mining only
Hypospadias Hypospadias GWASCAT_DG 25108383
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Inflammatory Bowel Diseases Inflammatory Bowel Disease GWASCAT_DG 23128233, 26192919
★☆☆☆☆
Found in Text Mining only
Inflammatory Bowel Diseases Inflammatory Bowel Disease GWASDB_DG 23128233
★☆☆☆☆
Found in Text Mining only
Lung Neoplasms Lung neoplasms Pubtator 33853833 Associate
★☆☆☆☆
Found in Text Mining only
Multiple Sclerosis Multiple sclerosis Pubtator 20546594 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Non-Small Cell Lung Carcinoma Lung carcinoma BEFREE 25399010
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Parkinson Disease Parkinson disease BEFREE 19429005
★★☆☆☆
Found in Text Mining + Unknown/Other Associations