LRRC26

leucine rich repeat containing 26, the group of MicroRNA protein coding host genes

Basic information

Region (hg38): 9:137168758-137170051

Links

ENSG00000184709 ∙ NCBI:389816 ∙ OMIM:613505 ∙ HGNC:31409 ∙ Uniprot:Q2I0M4 ∙ 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 LRRC26 gene.

• not_specified (70 variants)
• not_provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the LRRC26 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001013653.3. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2		2
missense			68	2	1	71
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	68	4	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
LRRC26	protein_coding	protein_coding	ENST00000371542	2	1294

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0127	0.671	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.553	115	99.5	1.16	0.00000489	1897
Missense in Polyphen		38	28.936	1.3133		591
Synonymous	0.803	47	54.5	0.862	0.00000274	821
Loss of Function	0.531	3	4.17	0.719	1.83e-7	62

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Auxiliary protein of the large-conductance, voltage and calcium-activated potassium channel (BK alpha). Required for the conversion of BK alpha channels from a high-voltage to a low- voltage activated channel type in non-excitable cells. These are characterized by negative membrane voltages and constant low levels of calcium. {ECO:0000269|PubMed:20613726, ECO:0000269|PubMed:22547800}.

Recessive Scores

• pRec: 0.104

Haploinsufficiency Scores

• pHI: 0.192
• hipred: N
• hipred_score: 0.285

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.588

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Lrrc26
• Phenotype: endocrine/exocrine gland phenotype; digestive/alimentary phenotype

Gene ontology

• Biological process: potassium ion transmembrane transport;positive regulation of voltage-gated potassium channel activity
• Cellular component: cytoplasm;cytoskeleton;integral component of plasma membrane;voltage-gated potassium channel complex;extracellular exosome
• Molecular function: voltage-gated potassium channel activity;protein binding;potassium channel regulator activity;ion channel binding;potassium channel activator activity