LRRC10 leucine rich repeat containing 10 [Homo sapiens (human)] - Gene

Summary

Official Symbol: LRRC10provided by HGNC
Official Full Name: leucine rich repeat containing 10provided by HGNC
Primary source: HGNC:HGNC:20264
See related: Ensembl:ENSG00000198812 MIM:610846; AllianceGenome:HGNC:20264
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HRLRRP; LRRC10A
Summary: Predicted to enable actin binding activity. Predicted to be involved in cardiac muscle cell development. Predicted to be located in myofibril. Predicted to be active in cytoskeleton and sarcomere. [provided by Alliance of Genome Resources, Apr 2022]
Orthologs: mouse all
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Genomic context

Location:: 12q15

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (69608564..69610907, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (69587479..69589822, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (70002344..70004687, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Examination of a patient with dilated cardiomyopathy revealed homozygosity for a previously unreported LRRC10 variant: I195T. Wild-type and I195T LRRC10 function as cardiac-specific subunits of L-type Ca(2+) channels and exert dramatically different effects on channel gating, providing a potential link to DCM.
Title: Pediatric Dilated Cardiomyopathy-Associated LRRC10 (Leucine-Rich Repeat-Containing 10) Variant Reveals LRRC10 as an Auxiliary Subunit of Cardiac L-Type Ca(2+) Channels.
LRRC10 may be a new susceptible gene for Sudden unexplained nocturnal death syndrome, and LRRC10 variant was initially and genetically linked to Brugada syndrome associated arrhythmia.
Title: Molecular pathological study on LRRC10 in sudden unexplained nocturnal death syndrome in the Chinese Han population.
This study firstly reports the association of LRRC10 mutations with enhanced susceptibility to dilated cardiomyopathy in humans.
Title: Prevalence and spectrum of LRRC10 mutations associated with idiopathic dilated cardiomyopathy.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Many sequence variants affecting diversity of adult human height. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables actin binding	IBA Inferred from Biological aspect of Ancestor more info
enables alpha-actinin binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in cardiac muscle cell development	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IEA Inferred from Electronic Annotation more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
is_active_in sarcomere	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: leucine-rich repeat-containing protein 10

Names: heart-restricted leucine-rich repeat protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_201550.4 → NP_963844.2 leucine-rich repeat-containing protein 10

See identical proteins and their annotated locations for NP_963844.2

Status: VALIDATED

Source sequence(s)

AC018921, BC090881

Consensus CDS

CCDS31856.1

UniProtKB/Swiss-Prot

Q5BKY1, Q6ZVY4

UniProtKB/TrEMBL

Q3KP57

Related

ENSP00000355166.3, ENST00000361484.5

Conserved Domains (2) summary

COG4886
Location:33 → 235

LRR; Leucine-rich repeat (LRR) protein [Transcription]

sd00033
Location:54 → 76

LRR_RI; leucine-rich repeat [structural motif]