Gene Gene information from NCBI Gene database.
Entrez ID 2029
Gene name Endosulfine alpha
Gene symbol ENSA
Synonyms (NCBI Gene)
ARPP-19e
Chromosome 1
Chromosome location 1q21.3
Summary The protein encoded by this gene belongs to a highly conserved cAMP-regulated phosphoprotein (ARPP) family. This protein was identified as an endogenous ligand for the sulfonylurea receptor, ABCC8/SUR1. ABCC8 is the regulatory subunit of the ATP-sensitive
miRNA miRNA information provided by mirtarbase database.
307
miRTarBase ID miRNA Experiments Reference
MIRT051695 hsa-let-7e-5p CLASH 23622248
MIRT036994 hsa-miR-877-3p CLASH 23622248
MIRT676892 hsa-miR-6813-3p HITS-CLIP 23824327
MIRT676891 hsa-miR-1245a HITS-CLIP 23824327
MIRT676890 hsa-miR-8079 HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
GO ID Ontology Definition Evidence Reference
GO:0000086 Process G2/M transition of mitotic cell cycle ISS
GO:0000278 Process Mitotic cell cycle ISS
GO:0004864 Function Protein phosphatase inhibitor activity IBA
GO:0004864 Function Protein phosphatase inhibitor activity IEA
GO:0005102 Function Signaling receptor binding IDA 9653196
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603061 3360 ENSG00000143420
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O43768
Protein name Alpha-endosulfine (ARPP-19e)
Protein function Protein phosphatase inhibitor that specifically inhibits protein phosphatase 2A (PP2A) during mitosis. When phosphorylated at Ser-67 during mitosis, specifically interacts with PPP2R2D (PR55-delta) and inhibits its activity, leading to inactivat
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04667 Endosulfine 10 114 cAMP-regulated phosphoprotein/endosulfine conserved region Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed with high levels in skeletal muscle and brain and lower levels in the pancreas. {ECO:0000269|PubMed:14728987, ECO:0000269|PubMed:9653196}.
Sequence
Sequence length 121
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    MASTL Facilitates Mitotic Progression
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
11
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
CONGENITAL LEFT-SIDED HEART LESIONS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GOUT 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
Breast Carcinoma Breast Carcinoma BEFREE 24211627
★☆☆☆☆
Found in Text Mining only
Cerebrovascular accident Stroke BEFREE 28922851
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus BEFREE 14728986, 14728987, 24211627
★☆☆☆☆
Found in Text Mining only
Down Syndrome Down Syndrome LHGDN 11771735
★☆☆☆☆
Found in Text Mining only
HYPOPLASTIC LEFT HEART SYNDROME 1 Hypoplastic Left Heart Syndrome GWASCAT_DG 26965164
★☆☆☆☆
Found in Text Mining only
HYPOPLASTIC LEFT HEART SYNDROME 2 Hypoplastic Left Heart Syndrome GWASCAT_DG 26965164
★☆☆☆☆
Found in Text Mining only
Liver neoplasms Liver neoplasms BEFREE 24211627
★☆☆☆☆
Found in Text Mining only
Lymphatic Metastasis Lymphatic metastasis Pubtator 31348270 Associate
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer BEFREE 24211627
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of liver Liver Cancer BEFREE 24211627
★☆☆☆☆
Found in Text Mining only