Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5341
Gene name Gene Name - the full gene name approved by the HGNC.
Pleckstrin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PLEK
Synonyms (NCBI Gene) Gene synonyms aliases
P47, PLEK1
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p14
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT532353 hsa-miR-3923 PAR-CLIP 22012620
MIRT532352 hsa-miR-1250-3p PAR-CLIP 22012620
MIRT532351 hsa-miR-153-5p PAR-CLIP 22012620
MIRT532350 hsa-miR-5696 PAR-CLIP 22012620
MIRT532349 hsa-miR-579-3p PAR-CLIP 22012620
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0002244 Process Hematopoietic progenitor cell differentiation IEP 2768345
GO:0002576 Process Platelet degranulation IDA 7559487
GO:0002576 Process Platelet degranulation IEA
GO:0005080 Function Protein kinase C binding IDA 8615792
GO:0005515 Function Protein binding IPI 8999861, 19722192, 28514442, 33961781
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
173570 9070 ENSG00000115956
Protein
UniProt ID P08567
Protein name Pleckstrin (Platelet 47 kDa protein) (p47)
Protein function Major protein kinase C substrate of platelets.
PDB 1PLS , 1W4M , 1X05 , 1XX0 , 1ZM0 , 2CSO , 2I5C , 2I5F
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00169 PH 5 101 PH domain Domain
PF00610 DEP 139 219 Domain found in Dishevelled, Egl-10, and Pleckstrin (DEP) Domain
PF00169 PH 245 347 PH domain Domain
Sequence
Sequence length 350
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Platelet degranulation
<
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
Celiac disease Celiac disease N/A N/A GWAS
Multiple Sclerosis Multiple sclerosis N/A N/A GWAS
Oligodendroglioma Oligodendroglioma N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Anemia Sickle Cell Associate 17654682
Anemia Sickle Cell Stimulate 22982429
Arthritis Rheumatoid Stimulate 26686060, 35087525
Arthrogryposis Associate 26752647
Asthma Associate 33602227
Atrial Fibrillation Associate 36653368
Autoimmune Diseases Associate 34539672
Blood Coagulation Disorders Inherited Associate 8781424
Blood Platelet Disorders Associate 8781424
Carcinogenesis Associate 22179719