Aliases for LRRC52 Gene

Aliases for LRRC52 Gene

  • Leucine Rich Repeat Containing 52 2 3 5
  • Leucine-Rich Repeat-Containing Protein 52 3 4
  • BK Channel Auxiliary Gamma Subunit LRRC52 3 4
  • BK Channel Auxilliary Gamma Subunit LRRC52 3
  • FLJ25811 2
  • LRRC52 5

External Ids for LRRC52 Gene

Previous GeneCards Identifiers for LRRC52 Gene

  • GC01P162247
  • GC01P163779
  • GC01P165513
  • GC01P136760

Summaries for LRRC52 Gene

GeneCards Summary for LRRC52 Gene

LRRC52 (Leucine Rich Repeat Containing 52) is a Protein Coding gene. Diseases associated with LRRC52 include Lymph Node Carcinoma. An important paralog of this gene is LRIG1.

UniProtKB/Swiss-Prot Summary for LRRC52 Gene

  • 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, and in the absence of calcium. KCNU1 channel auxiliary protein. May modulate KCNU1 gating properties.

Additional gene information for LRRC52 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LRRC52 Gene

Genomics for LRRC52 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for LRRC52 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J165544 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE 613.6 +0.2 201 1.6 PRDM10 ZNF629 KDM1A PRDM1 ZIC2 PATZ1 ZNF561 TSHZ1 OSR2 USF1 LRRC52 LRRC52-AS1 RPS2P10 MGST3
GH01J165629 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.8 +87.7 87719 5.4 SP1 GATAD2A PRDM10 ZNF629 TFE3 RFX1 SIX5 LEF1 IKZF1 KDM1A MGST3 lnc-ALDH9A1-3 lnc-LRRC52-3 ENSG00000215835 LRRC52 ALDH9A1 lnc-LRRC52-2
GH01J165597 Promoter/Enhancer 1.7 Ensembl ENCODE CraniofacialAtlas 8.5 +54.2 54201 2.8 SP1 CREB1 PRDM10 ZNF512 RFX1 ZNF692 POLR2A BACH1 FOS JUND ENSG00000236206 RF00005-020 TRK-CTT13-1 ENSG00000215835 RPS13P1 LRRC52 MGST3 lnc-ALDH9A1-3
GH01J165601 Enhancer 0.9 Ensembl ENCODE 11.3 +57.3 57301 1.8 CTCF JUND ZNF143 PRDM1 REST RAD21 KAT8 RCOR1 TRIM22 YY1 MGST3 LRRC52 RXRG ENSG00000236206 lnc-ALDH9A1-3
GH01J165538 Enhancer 0.8 Ensembl ENCODE 10.8 -3.9 -3915 2.6 RFX1 ZNF639 ZNF10 FOXA2 OSR2 JUN ZBTB17 PKNOX1 JUND NR2F2 MGST3 LRRC52 RXRG lnc-LRRC52-1 LRRC52-AS1 ENSG00000230748
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LRRC52 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LRRC52

Top Transcription factor binding sites by QIAGEN in the LRRC52 gene promoter:
  • Gfi-1
  • GR
  • GR-alpha
  • GR-beta
  • NF-AT
  • NF-AT1
  • NF-AT2
  • NF-AT3
  • NF-AT4
  • POU3F2 (N-Oct-5b)

Genomic Locations for LRRC52 Gene

Genomic Locations for LRRC52 Gene
chr1:165,544,000-165,563,957
(GRCh38/hg38)
Size:
19,958 bases
Orientation:
Plus strand
chr1:165,513,244-165,533,198
(GRCh37/hg19)
Size:
19,955 bases
Orientation:
Plus strand

Genomic View for LRRC52 Gene

Genes around LRRC52 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LRRC52 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LRRC52 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LRRC52 Gene

Proteins for LRRC52 Gene

  • Protein details for LRRC52 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N7C0-LRC52_HUMAN
    Recommended name:
    Leucine-rich repeat-containing protein 52
    Protein Accession:
    Q8N7C0
    Secondary Accessions:
    • A2RUN7
    • Q5T9K5

    Protein attributes for LRRC52 Gene

    Size:
    313 amino acids
    Molecular mass:
    35126 Da
    Quaternary structure:
    • May interact with KCNU1; this interaction may be required for LRRC52 stability and may change the channel gating properties (By similarity). Interacts with KCNMA1.

neXtProt entry for LRRC52 Gene

Post-translational modifications for LRRC52 Gene

Other Protein References for LRRC52 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for LRRC52 Gene

Domains & Families for LRRC52 Gene

Gene Families for LRRC52 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for LRRC52 Gene

InterPro:
Blocks:
  • Cysteine-rich flanking region, N-terminal
  • Leucine-rich repeat signature
ProtoNet:

Suggested Antigen Peptide Sequences for LRRC52 Gene

GenScript: Design optimal peptide antigens:
  • Leucine-rich repeat-containing protein 52 (LRC52_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8N7C0

UniProtKB/Swiss-Prot:

LRC52_HUMAN :
  • The transmembrane domain is necessary for interaction with KCNMA1.
Domain:
  • The transmembrane domain is necessary for interaction with KCNMA1.
genes like me logo Genes that share domains with LRRC52: view

Function for LRRC52 Gene

Molecular function for LRRC52 Gene

UniProtKB/Swiss-Prot 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, and in the absence of calcium. KCNU1 channel auxiliary protein. May modulate KCNU1 gating properties.

Phenotypes From GWAS Catalog for LRRC52 Gene

Gene Ontology (GO) - Molecular Function for LRRC52 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005249 voltage-gated potassium channel activity IDA 22547800
GO:0005267 potassium channel activity IEA --
GO:0005515 protein binding IEA --
GO:0044325 ion channel binding IPI 22547800
GO:0099104 potassium channel activator activity IDA 22547800
genes like me logo Genes that share ontologies with LRRC52: view
genes like me logo Genes that share phenotypes with LRRC52: view

Animal Models for LRRC52 Gene

MGI Knock Outs for LRRC52:
  • Lrrc52 Lrrc52<tm1.1(KOMP)Vlcg>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LRRC52

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for LRRC52 Gene

Localization for LRRC52 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LRRC52 Gene

Cell membrane. Single-pass membrane protein. Note=Expression at the cell surface may require the presence of KCNU1.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LRRC52 gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytoskeleton 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for LRRC52 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0005887 integral component of plasma membrane ISS 22547800
GO:0008076 voltage-gated potassium channel complex IDA 22547800
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with LRRC52: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for LRRC52 Gene

Pathways & Interactions for LRRC52 Gene

PathCards logo

SuperPathways for LRRC52 Gene

No Data Available

Interacting Proteins for LRRC52 Gene

Gene Ontology (GO) - Biological Process for LRRC52 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006813 potassium ion transport IEA --
GO:0022414 reproductive process IEA --
GO:0071805 potassium ion transmembrane transport IDA 22547800
GO:1903818 positive regulation of voltage-gated potassium channel activity IDA 22547800
genes like me logo Genes that share ontologies with LRRC52: view

No data available for Pathways by source and SIGNOR curated interactions for LRRC52 Gene

Drugs & Compounds for LRRC52 Gene

No Compound Related Data Available

Transcripts for LRRC52 Gene

mRNA/cDNA for LRRC52 Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LRRC52

Alternative Splicing Database (ASD) splice patterns (SP) for LRRC52 Gene

No ASD Table

Relevant External Links for LRRC52 Gene

GeneLoc Exon Structure for
LRRC52

Expression for LRRC52 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for LRRC52 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for LRRC52 Gene

This gene is overexpressed in Testis (x45.7).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LRRC52

SOURCE GeneReport for Unigene cluster for LRRC52 Gene:

Hs.664975

mRNA Expression by UniProt/SwissProt for LRRC52 Gene:

Q8N7C0-LRC52_HUMAN
Tissue specificity: Mainly expressed in testis and skeletal muscle.

Evidence on tissue expression from TISSUES for LRRC52 Gene

  • Muscle(2)
genes like me logo Genes that share expression patterns with LRRC52: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for LRRC52 Gene

Orthologs for LRRC52 Gene

This gene was present in the common ancestor of chordates.

Orthologs for LRRC52 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia LRRC52 30 31
  • 99.68 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia LRRC52 30 31
  • 86.37 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia LRRC52 30 31
  • 84.98 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Lrrc52 30 17 31
  • 81.14 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Lrrc52 30
  • 80.62 (n)
Oppossum
(Monodelphis domestica)
Mammalia LRRC52 31
  • 57 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia LRRC52 31
  • 55 (a)
OneToOne
Chicken
(Gallus gallus)
Aves LRRC52 30 31
  • 57.88 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 44 (a)
OneToMany
-- 31
  • 34 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia lrrc52 30
  • 52.81 (n)
Zebrafish
(Danio rerio)
Actinopterygii LRRC52 (2 of 2) 31
  • 35 (a)
OneToMany
LRRC52 (1 of 2) 31
  • 32 (a)
OneToMany
Species where no ortholog for LRRC52 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for LRRC52 Gene

ENSEMBL:
Gene Tree for LRRC52 (if available)
TreeFam:
Gene Tree for LRRC52 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for LRRC52: view image

Paralogs for LRRC52 Gene

(1) SIMAP similar genes for LRRC52 Gene using alignment to 1 proteins:

  • LRC52_HUMAN
genes like me logo Genes that share paralogs with LRRC52: view

Variants for LRRC52 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LRRC52 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
714609 Benign: not provided 165,544,641(+) G/C SYNONYMOUS_VARIANT
783012 Benign: not provided 165,563,711(+) C/T MISSENSE_VARIANT
rs17407838 - p.Asp209Glu

Additional dbSNP identifiers (rs#s) for LRRC52 Gene

Structural Variations from Database of Genomic Variants (DGV) for LRRC52 Gene

Variant ID Type Subtype PubMed ID
esv3307100 CNV mobile element insertion 20981092
esv3323222 CNV insertion 20981092
nsv3376 CNV insertion 18451855

Variation tolerance for LRRC52 Gene

Residual Variation Intolerance Score: 56.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.95; 49.29% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LRRC52 Gene

Human Gene Mutation Database (HGMD)
LRRC52
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LRRC52

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LRRC52 Gene

Disorders for LRRC52 Gene

MalaCards: The human disease database

(1) MalaCards diseases for LRRC52 Gene - From: DISEASES

Disorder Aliases PubMed IDs
lymph node carcinoma
  • lymph node cancer
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for LRRC52

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with LRRC52: view

No data available for UniProtKB/Swiss-Prot and Genatlas for LRRC52 Gene

Publications for LRRC52 Gene

  1. BK potassium channel modulation by leucine-rich repeat-containing proteins. (PMID: 22547800) Yan J … Aldrich RW (Proceedings of the National Academy of Sciences of the United States of America 2012) 2 3 4
  2. Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study. (PMID: 19536175) Ehret GB … Chakravarti A (European journal of human genetics : EJHG 2009) 3 41
  3. Pre-B-cell leukemia homeobox 1 (PBX1) shows functional and possible genetic association with bone mineral density variation. (PMID: 19064610) Cheung CL … Kung AW (Human molecular genetics 2009) 3 41
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for LRRC52 Gene

Sources for LRRC52 Gene