MRLN (myoregulin)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 100507027
Gene name Myoregulin
Gene symbol MRLN
Synonyms (NCBI Gene)
LINC00948Linc-RAMM1MLNMUSER1
Chromosome 10
Chromosome location 10q21.2
Summary This gene encodes a small peptide that shares structural similarity to the small peptides sarcolipin and phospholamban, which are key regulators of sarcoplasmic reticulum Ca(2+)-ATPases (SERCAs). This protein is thought to have a similar function to these
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
6
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (6)
GO ID Ontology Definition Evidence Reference
GO:0004857 Function Enzyme inhibitor activity ISS
GO:0016020 Component Membrane IEA
GO:0016529 Component Sarcoplasmic reticulum IEA
GO:0033017 Component Sarcoplasmic reticulum membrane IEA
GO:0033017 Component Sarcoplasmic reticulum membrane ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
616246 48649 ENSG00000227877
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P0DMT0
Protein name Myoregulin
Protein function Inhibits the activity of ATP2A1/SERCA1 ATPase in sarcoplasmic reticulum by decreasing the apparent affinity of the ATPase for Ca(2+), thereby acting as a key regulator of skeletal muscle activity. Its high expression in adult skeletal muscle, su
Family and domains
Sequence 
MTGKNWILISTTTPKSLEDEIVGRLLKILFVIFVDLISIIYVVITS
Sequence length 46
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG 
  Calcium signaling pathway  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Gene Gene ontology Other IDs Protein Pathways 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
GOUT — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (3)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Chromosome Aberrations Associate 28464862
★★★★★
★☆☆☆☆
Found in Text Mining only
Intellectual Disability Associate 28464862
★★★★★
★☆☆☆☆
Found in Text Mining only
Muscle Spasticity Associate 28464862
★★★★★
★☆☆☆☆
Found in Text Mining only