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Aliases for LRRC48 Gene

Aliases for LRRC48 Gene

  • Leucine Rich Repeat Containing 48 2 3

External Ids for LRRC48 Gene

Previous GeneCards Identifiers for LRRC48 Gene

  • GC17P017688
  • GC17P017816

Summaries for LRRC48 Gene

GeneCards Summary for LRRC48 Gene

LRRC48 (Leucine Rich Repeat Containing 48) is a Protein Coding gene. An important paralog of this gene is CNTRL.

Gene Wiki entry for LRRC48 Gene

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LRRC48 Gene

Genomics for LRRC48 Gene

Regulatory Elements for LRRC48 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for LRRC48 Gene

17,972,813 bp from pter
18,016,889 bp from pter
44,077 bases
Plus strand

Genomic View for LRRC48 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for LRRC48 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LRRC48 Gene

Proteins for LRRC48 Gene

  • Protein details for LRRC48 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Leucine-rich repeat-containing protein 48
    Protein Accession:
    Secondary Accessions:
    • A8KAE6
    • Q86SF9
    • Q86W73
    • Q8IWG0

    Protein attributes for LRRC48 Gene

    523 amino acids
    Molecular mass:
    61054 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for LRRC48 Gene


neXtProt entry for LRRC48 Gene

Proteomics data for LRRC48 Gene at MOPED

Post-translational modifications for LRRC48 Gene

No Post-translational modifications

Antibody Products

No data available for DME Specific Peptides for LRRC48 Gene

Domains for LRRC48 Gene

Protein Domains for LRRC48 Gene


Suggested Antigen Peptide Sequences for LRRC48 Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 LRRCT domain.
  • Contains 5 LRR (leucine-rich) repeats.
  • Contains 1 LRRCT domain.
  • Contains 5 LRR (leucine-rich) repeats.
genes like me logo Genes that share domains with LRRC48: view

No data available for Gene Families for LRRC48 Gene

Function for LRRC48 Gene

Gene Ontology (GO) - Molecular Function for LRRC48 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with LRRC48: view

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for LRRC48

In Situ Assay Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for LRRC48 Gene

Localization for LRRC48 Gene

Subcellular locations from

Jensen Localization Image for LRRC48 Gene COMPARTMENTS Subcellular localization image for LRRC48 gene
Compartment Confidence
cytoskeleton 3
cytosol 1
nucleus 1

Gene Ontology (GO) - Cellular Components for LRRC48 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
genes like me logo Genes that share ontologies with LRRC48: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for LRRC48 Gene

Pathways for LRRC48 Gene

SuperPathways for LRRC48 Gene

No Data Available

Interacting Proteins for LRRC48 Gene

Gene Ontology (GO) - Biological Process for LRRC48 Gene


No data available for Pathways by source for LRRC48 Gene

Transcripts for LRRC48 Gene

Unigene Clusters for LRRC48 Gene

Leucine rich repeat containing 48:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for LRRC48

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for LRRC48 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16
SP1: - - - - -
SP2: - - - -
SP3: - - -
SP4: - - - - - -

Relevant External Links for LRRC48 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for LRRC48 Gene

mRNA expression in normal human tissues for LRRC48 Gene

mRNA differential expression in normal tissues according to GTEx for LRRC48 Gene

This gene is overexpressed in Pituitary (4.8) and Testis (4.2).

Protein differential expression in normal tissues for LRRC48 Gene

This gene is overexpressed in Placenta (56.7) and CD4 Tcells (11.7).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for LRRC48 Gene

SOURCE GeneReport for Unigene cluster for LRRC48 Gene Hs.579264

genes like me logo Genes that share expressions with LRRC48: view

Expression partners for LRRC48 Gene

* - Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for LRRC48 Gene

Orthologs for LRRC48 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for LRRC48 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia LRRC48 35
  • 85.92 (n)
  • 85.85 (a)
LRRC48 36
  • 85 (a)
(Canis familiaris)
Mammalia LRRC48 35
  • 85.79 (n)
  • 82.22 (a)
LRRC48 36
  • 82 (a)
(Mus musculus)
Mammalia Lrrc48 35
  • 83.43 (n)
  • 80.88 (a)
Lrrc48 16
Lrrc48 36
  • 81 (a)
(Pan troglodytes)
Mammalia LRRC48 35
  • 99.04 (n)
  • 98.09 (a)
LRRC48 36
  • 98 (a)
(Rattus norvegicus)
Mammalia Lrrc48 35
  • 82.92 (n)
  • 80.5 (a)
(Monodelphis domestica)
Mammalia LRRC48 36
  • 67 (a)
(Ornithorhynchus anatinus)
Mammalia LRRC48 36
  • 67 (a)
(Gallus gallus)
Aves LRRC48 35
  • 62.94 (n)
  • 56.07 (a)
LRRC48 36
  • 55 (a)
(Anolis carolinensis)
Reptilia LRRC48 36
  • 57 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia lrrc48 35
  • 64.41 (n)
  • 58.99 (a)
(Danio rerio)
Actinopterygii lrrc48 35
  • 59.21 (n)
  • 50.7 (a)
lrrc48 36
  • 50 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010129 35
  • 45.69 (n)
  • 35.42 (a)
fruit fly
(Drosophila melanogaster)
Insecta Ppr-Y 35
  • 46 (n)
  • 36.8 (a)
Ppr-Y 36
  • 30 (a)
TbCMF46 36
  • 30 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SDS22 36
  • 17 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 52 (a)
Species with no ortholog for LRRC48:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • 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 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 LRRC48 Gene

Gene Tree for LRRC48 (if available)
Gene Tree for LRRC48 (if available)

Paralogs for LRRC48 Gene

Paralogs for LRRC48 Gene

genes like me logo Genes that share paralogs with LRRC48: view

Variants for LRRC48 Gene

Sequence variations from dbSNP and Humsavar for LRRC48 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs139692188 -- 17,982,389(+) TTTTT(A/G)TGTTT intron-variant
rs139882031 -- 18,010,980(+) TGAGA(C/T)GGAAT intron-variant
rs140075357 -- 17,995,824(+) CTGGG(C/G)CTGTG intron-variant
rs140227888 -- 17,978,470(+) TGAGA(C/T)CCCCC intron-variant
rs141677723 -- 18,014,018(+) ACCTC(A/G)GCCTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for LRRC48 Gene

Variant ID Type Subtype PubMed ID
nsv155 OTHER Inversion 15895083
nsv499114 OTHER Inversion 21111241
nsv907766 CNV Loss 21882294
nsv510701 CNV Loss 20534489
esv2668379 CNV Deletion 23128226

Relevant External Links for LRRC48 Gene

HapMap Linkage Disequilibrium report

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LRRC48 Gene

Disorders for LRRC48 Gene

Relevant External Links for LRRC48

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator

No disorders were found for LRRC48 Gene.

No data available for MalaCards , OMIM , UniProtKB/Swiss-Prot , University of Copenhagen DISEASES , Novoseek inferred disease relationships and Genatlas for LRRC48 Gene

Publications for LRRC48 Gene

  1. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S. … Poustka A. (Genome Res. 2001) 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 48
  5. The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans. (PMID: 23354437) Wirschell M. … Omran H. (Nat. Genet. 2013) 2 3

Products for LRRC48 Gene

Sources for LRRC48 Gene

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