Gene Gene information from NCBI Gene database.
Entrez ID 219527
Gene name Leucine rich repeat containing 55
Gene symbol LRRC55
Synonyms (NCBI Gene)
-
Chromosome 11
Chromosome location 11q12.1
miRNA miRNA information provided by mirtarbase database.
868
miRTarBase ID miRNA Experiments Reference
MIRT522731 hsa-miR-548ac HITS-CLIP 21572407
MIRT522730 hsa-miR-548bb-3p HITS-CLIP 21572407
MIRT522729 hsa-miR-548d-3p HITS-CLIP 21572407
MIRT522728 hsa-miR-548h-3p HITS-CLIP 21572407
MIRT522727 hsa-miR-548z HITS-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
GO ID Ontology Definition Evidence Reference
GO:0005249 Function Voltage-gated potassium channel activity IBA
GO:0005249 Function Voltage-gated potassium channel activity IDA 22547800
GO:0005886 Component Plasma membrane IEA
GO:0005886 Component Plasma membrane ISS 22547800
GO:0006811 Process Monoatomic ion transport IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
615213 32324 ENSG00000183908
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6ZSA7
Protein name Leucine-rich repeat-containing protein 55 (BK channel auxiliary gamma subunit LRRC55)
Protein function Auxiliary protein of the large-conductance, voltage and calcium-activated potassium channel (BK alpha). Modulates gating properties by producing a marked shift in the BK channel's voltage dependence of activation in the hyperpolarizing direction
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13855 LRR_8 89 148 Leucine rich repeat Repeat
PF13855 LRR_8 138 197 Leucine rich repeat Repeat
Tissue specificity TISSUE SPECIFICITY: Mainly expressed in brain. {ECO:0000269|PubMed:22547800}.
Sequence
MGDTWAQLPWPGPPHPAMLLISLLLAAGLMHSDAGTSCPVLCTCRNQVVDCSSQRLFSVP
PDLPMDTRNLSLAHNRITAVPPGYLTCYMELQVLDLHNNSLMELPRGLFLHAKRLAHLDL
SYNNFSHVPADMFQEAH
GLVHIDLSHNPWLRRVHPQAFQGLMQLRDLDLSYGGLAFLSLE
ALEGLPGLVTLQIGGNP
WVCGCTMEPLLKWLRNRIQRCTADSQLAECRGPPEVEGAPLFS
LTEESFKACHLTLTLDDYLFIAFVGFVVSIASVATNFLLGITANCCHRWSKASEEEEI
Sequence length 298
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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
METABOLIC SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
THROMBOPHILIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM 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
Blast Crisis Blast crisis Pubtator 33557955 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Diabetes BEFREE 31526288
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Diabetes Mellitus BEFREE 31526288
★☆☆☆☆
Found in Text Mining only
Dystonia Dystonia Pubtator 33557955 Associate
★☆☆☆☆
Found in Text Mining only
Motor Neuron Disease Motor neuron disease Pubtator 33557955 Associate
★☆☆☆☆
Found in Text Mining only
Seizures Seizures Pubtator 33557955 Associate
★☆☆☆☆
Found in Text Mining only