TESC (tescalcin)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 54997
Gene name Tescalcin
Gene symbol TESC
Synonyms (NCBI Gene)
CHP3TSC
Chromosome 12
Chromosome location 12q24.22
miRNA miRNA information provided by mirtarbase database.
11
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (11)
miRTarBase ID miRNA Experiments Reference
MIRT1418463 hsa-miR-1587 CLIP-seq
MIRT1418464 hsa-miR-4267 CLIP-seq
MIRT1418465 hsa-miR-4492 CLIP-seq
MIRT1418466 hsa-miR-4498 CLIP-seq
MIRT1418467 hsa-miR-4656 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
50
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (50)
GO ID Ontology Definition Evidence Reference
GO:0000287 Function Magnesium ion binding IEA
GO:0000287 Function Magnesium ion binding ISS
GO:0001726 Component Ruffle IEA
GO:0001726 Component Ruffle ISS
GO:0004860 Function Protein kinase inhibitor activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
611585 26065 ENSG00000088992
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96BS2
Protein name Calcineurin B homologous protein 3 (Tescalcin) (TSC)
Protein function Functions as an integral cofactor in cell pH regulation by controlling plasma membrane-type Na(+)/H(+) exchange activity. Promotes the maturation, transport, cell surface stability and exchange activity of SLC9A1/NHE1 at the plasma membrane. Pro
Family and domains
Tissue specificity TISSUE SPECIFICITY: Expressed in mature megakaryocytes and polymorphonuclear granulocytes (at protein level). Abundantly expressed in heart. Also expressed at a lower level in adult testis and salivary gland, and in the placenta. {ECO:0000269|PubMed:11696
Sequence 
MGAAHSASEEVRELEGKTGFSSDQIEQLHRRFKQLSGDQPTIRKENFNNVPDLELNPIRS
KIVRAFFDNRNLRKGPSGLADEINFEDFLTIMSYFRPIDTTMDEEQVELSRKEKLRFLFH
MYDSDSDGRITLEEYRNVVEELLSGNPHIEKESARSIADGAMMEAASVCMGQMEPDQVYE
GITFEDFLKIWQGIDIETKMHVRFLNMETMALCH
Sequence length 214
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Gene miRNA Gene ontology Other IDs Protein Associated diseases
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)
Show/Hide Unknown Diseases (1)
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
Show/Hide Text Mining Associations (71)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute leukemia Leukemia BEFREE 19250671, 19286253
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 24608976, 25476905, 31619031
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 11696455
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 15565817
★★★★★
★☆☆☆☆
Found in Text Mining only
Angiomyolipoma of kidney Angiomyolipoma Of Kidney BEFREE 18988705, 30036593, 31619031
★★★★★
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 17468934
★★★★★
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 17468934
★★★★★
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorders Autism Spectrum Disorder BEFREE 21079609
★★★★★
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism BEFREE 9813776
★★★★★
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 16713332
★★★★★
★☆☆☆☆
Found in Text Mining only