Gene Gene information from NCBI Gene database.
Entrez ID 126755
Gene name Leucine rich repeat containing 38
Gene symbol LRRC38
Synonyms (NCBI Gene)
-
Chromosome 1
Chromosome location 1p36.21
miRNA miRNA information provided by mirtarbase database.
73
miRTarBase ID miRNA Experiments Reference
MIRT528149 hsa-miR-8485 PAR-CLIP 22012620
MIRT528148 hsa-miR-329-3p PAR-CLIP 22012620
MIRT528147 hsa-miR-362-3p PAR-CLIP 22012620
MIRT528146 hsa-miR-1228-3p PAR-CLIP 22012620
MIRT528145 hsa-miR-6793-3p PAR-CLIP 22012620
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
GO ID Ontology Definition Evidence Reference
GO:0005249 Function Voltage-gated potassium channel activity IBA
GO:0005886 Component Plasma membrane IEA
GO:0005886 Component Plasma membrane ISS 22547800
GO:0006811 Process Monoatomic ion transport IEA
GO:0008076 Component Voltage-gated potassium channel complex IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
615212 27005 ENSG00000162494
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5VT99
Protein name Leucine-rich repeat-containing protein 38 (BK channel auxiliary gamma subunit LRRC38)
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
PF00560 LRR_1 105 126 Leucine Rich Repeat Repeat
PF13855 LRR_8 128 187 Leucine rich repeat Repeat
Tissue specificity TISSUE SPECIFICITY: Mainly expressed in adrenal gland, thymus and skeletal muscle. {ECO:0000269|PubMed:22547800}.
Sequence
MRPRAPACAAAALGLCSLLLLLAPGHACPAGCACTDPHTVDCRDRGLPSVPDPFPLDVRK
LLVAGNRIQRIPEDFFIFYGDLVYLDFRNNSLRSLEEGTFSGSAKLVFLDLSYNNLTQLG
AGAFRS
AGRLVKLSLANNNLVGVHEDAFETLESLQVLELNDNNLRSLSVAALAALPALRS
LRLDGNP
WLCDCDFAHLFSWIQENASKLPKGLDEIQCSLPMESRRISLRELSEASFSECR
FSLSLTDLCIIIFSGVAVSIAAIISSFFLATVVQCLQRCAPNKDAEDEDEDKDD
Sequence length 294
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
UPPER AERODIGESTIVE TRACT NEOPLASM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations