MRLN

myoregulin

Basic information

Region (hg38): 10:59736692-59756041

Previous symbols: [ "LINC00948" ]

Links

∙ NCBI:100507027 ∙ OMIM:616246 ∙ HGNC:48649 ∙ Uniprot:P0DMT0 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MRLN gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MRLN gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	0	0

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Function: 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, suggests that it constitutes the predominant regulator of ATP2A1/SERCA1 in adult skeletal muscle. {ECO:0000250|UniProtKB:Q9CV60, ECO:0000269|PubMed:25640239}.;

Recessive Scores

pRec: 0.0763

Intolerance Scores

loftool
rvis_EVS: 0.37
rvis_percentile_EVS: 74.95

Haploinsufficiency Scores

pHI: 0.0168
hipred: N
hipred_score: 0.153
ghis

Mouse Genome Informatics

Gene name: Mrln
Phenotype: homeostasis/metabolism phenotype; muscle phenotype;

Gene ontology

Biological process: response to wounding;negative regulation of catalytic activity;negative regulation of calcium ion import into sarcoplasmic reticulum
Cellular component: integral component of membrane;sarcoplasmic reticulum membrane
Molecular function: enzyme inhibitor activity