Gene Gene information from NCBI Gene database.
Entrez ID 6588
Gene name Sarcolipin
Gene symbol SLN
Synonyms (NCBI Gene)
-
Chromosome 11
Chromosome location 11q22.3
Summary Sarcoplasmic reticulum Ca(2+)-ATPases are transmembrane proteins that catalyze the ATP-dependent transport of Ca(2+) from the cytosol into the lumen of the sarcoplasmic reticulum in muscle cells. This gene encodes a small proteolipid that regulates severa
miRNA miRNA information provided by mirtarbase database.
12
miRTarBase ID miRNA Experiments Reference
MIRT1370156 hsa-miR-3120-3p CLIP-seq
MIRT1370157 hsa-miR-3665 CLIP-seq
MIRT1370158 hsa-miR-4290 CLIP-seq
MIRT1370159 hsa-miR-513a-5p CLIP-seq
MIRT1370160 hsa-miR-552 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
GO ID Ontology Definition Evidence Reference
GO:0004857 Function Enzyme inhibitor activity ISS 12032137
GO:0005515 Function Protein binding IPI 25416956, 28890335, 31515488
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IEA
GO:0006816 Process Calcium ion transport NAS 9367679
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602203 11089 ENSG00000170290
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O00631
Protein name Sarcolipin
Protein function Reversibly inhibits the activity of ATP2A1/SERCA1 and ATP2A2/SERCA2 in sarcoplasmic reticulum by decreasing the apparent affinity of the ATPase for Ca(2+) (PubMed:11781085, PubMed:9575189). Also inhibits the activity of ATP2A3/SERCA3 (By similar
PDB 1JDM
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05366 Sarcolipin 1 31 Sarcolipin Family
Sequence
Sequence length 31
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Calcium signaling pathway   Ion homeostasis
Ion transport by P-type ATPases
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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
CENTRAL NERVOUS SYSTEM CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GLIOMA 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
Acral Lentiginous Malignant Melanoma Acral Lentiginous Malignant Melanoma BEFREE 30883783
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 30461434
★☆☆☆☆
Found in Text Mining only
Adult Hodgkin Lymphoma Hodgkin Lymphoma BEFREE 29679536
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis BEFREE 30143947
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial Fibrillation BEFREE 15530144, 17010328, 18634977, 21640081
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial fibrillation Pubtator 27390994 Inhibit
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 16786442, 20853060, 27165238, 28139361, 29286917, 29482783, 29956095, 31448502, 31604469, 31662523
★☆☆☆☆
Found in Text Mining only
Cardiomyopathies Cardiomyopathy BEFREE 17010328, 29051551
★☆☆☆☆
Found in Text Mining only
cervical cancer Cervical Cancer BEFREE 18765550, 28669052, 29366509
★☆☆☆☆
Found in Text Mining only
Cervix carcinoma Cervix carcinoma BEFREE 18765550, 28669052, 29366509
★☆☆☆☆
Found in Text Mining only