Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9749
Gene name Gene Name - the full gene name approved by the HGNC.
Phosphatase and actin regulator 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PHACTR2
Synonyms (NCBI Gene) Gene synonyms aliases
C6orf56
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q24.2
miRNA miRNA information provided by mirtarbase database.
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 Microarray, qRT-PCR 22815788
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
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608724 20956 ENSG00000112419
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Crohn Disease Crohn's disease N/A N/A GWAS
Hypospadias Hypospadias N/A N/A GWAS
Inflammatory Bowel Disease Inflammatory bowel disease N/A N/A GWAS
Multiple Sclerosis Multiple sclerosis N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Anthracosis Associate 26223249
Diabetes Mellitus Type 2 Associate 34560403
Esophageal Squamous Cell Carcinoma Associate 33345608
Lung Neoplasms Associate 33853833
Multiple Sclerosis Associate 20546594
Neoplasms Associate 33853833
Parkinson Disease Associate 19429005
Pneumoconiosis Associate 26223249