Aliases for LRRC46 Gene

Aliases for LRRC46 Gene

  • Leucine Rich Repeat Containing 46 2 3 5
  • Leucine-Rich Repeat-Containing Protein 46 3 4

External Ids for LRRC46 Gene

Previous GeneCards Identifiers for LRRC46 Gene

  • GC17P043265
  • GC17P045909
  • GC17P041280

Summaries for LRRC46 Gene

GeneCards Summary for LRRC46 Gene

LRRC46 (Leucine Rich Repeat Containing 46) is a Protein Coding gene. Diseases associated with LRRC46 include Ciliary Dyskinesia, Primary, 13. An important paralog of this gene is LRRC49.

Additional gene information for LRRC46 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LRRC46 Gene

Genomics for LRRC46 Gene

GeneHancer (GH) Regulatory Elements for LRRC46 Gene

Promoters and enhancers for LRRC46 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LRRC46 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LRRC46

Top Transcription factor binding sites by QIAGEN in the LRRC46 gene promoter:
  • Arnt
  • GATA-2
  • HOXA5
  • LyF-1
  • NF-E2
  • NF-E2 p45
  • NF-kappaB
  • NF-kappaB1
  • Pax-5
  • STAT5A

Genomic Locations for LRRC46 Gene

Genomic Locations for LRRC46 Gene
chr17:47,831,627-47,837,719
(GRCh38/hg38)
Size:
6,093 bases
Orientation:
Plus strand
chr17:45,908,993-45,915,079
(GRCh37/hg19)
Size:
6,087 bases
Orientation:
Plus strand

Genomic View for LRRC46 Gene

Genes around LRRC46 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LRRC46 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LRRC46 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LRRC46 Gene

Proteins for LRRC46 Gene

  • Protein details for LRRC46 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96FV0-LRC46_HUMAN
    Recommended name:
    Leucine-rich repeat-containing protein 46
    Protein Accession:
    Q96FV0
    Secondary Accessions:
    • A8K9Q0

    Protein attributes for LRRC46 Gene

    Size:
    321 amino acids
    Molecular mass:
    35340 Da
    Quaternary structure:
    No Data Available

neXtProt entry for LRRC46 Gene

Post-translational modifications for LRRC46 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for LRRC46 Gene

No data available for DME Specific Peptides for LRRC46 Gene

Domains & Families for LRRC46 Gene

Gene Families for LRRC46 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for LRRC46 Gene

Suggested Antigen Peptide Sequences for LRRC46 Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ96757 (A8K9Q0_HUMAN)
  • Leucine-rich repeat-containing protein 46 (LRC46_HUMAN)
genes like me logo Genes that share domains with LRRC46: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for LRRC46 Gene

Function for LRRC46 Gene

Phenotypes From GWAS Catalog for LRRC46 Gene

genes like me logo Genes that share phenotypes with LRRC46: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for LRRC46 Gene

Localization for LRRC46 Gene

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 LRRC46 gene
Compartment Confidence
cytosol 3
nucleus 1
mitochondrion 0
lysosome 0

Subcellular locations from the

Human Protein Atlas (HPA)

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for LRRC46 Gene

Pathways & Interactions for LRRC46 Gene

PathCards logo

SuperPathways for LRRC46 Gene

No Data Available

Gene Ontology (GO) - Biological Process for LRRC46 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for LRRC46 Gene

Drugs & Compounds for LRRC46 Gene

No Compound Related Data Available

Transcripts for LRRC46 Gene

mRNA/cDNA for LRRC46 Gene

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

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for LRRC46 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9
SP1: - - -
SP2: - -
SP3:
SP4: -

Relevant External Links for LRRC46 Gene

GeneLoc Exon Structure for
LRRC46

Expression for LRRC46 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for LRRC46 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for LRRC46 Gene

This gene is overexpressed in Testis (x19.0) and Fallopian Tube (x6.3).

Protein differential expression in normal tissues from HIPED for LRRC46 Gene

This gene is overexpressed in Testis (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for LRRC46 Gene



Protein tissue co-expression partners for LRRC46 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LRRC46

SOURCE GeneReport for Unigene cluster for LRRC46 Gene:

Hs.130767
genes like me logo Genes that share expression patterns with LRRC46: view

No data available for mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for LRRC46 Gene

Orthologs for LRRC46 Gene

This gene was present in the common ancestor of animals.

Orthologs for LRRC46 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LRRC46 31 30
  • 92.83 (n)
OneToOne
cow
(Bos Taurus)
Mammalia LRRC46 31 30
  • 86.77 (n)
OneToOne
dog
(Canis familiaris)
Mammalia LRRC46 31 30
  • 85 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Lrrc46 17 31 30
  • 78.7 (n)
rat
(Rattus norvegicus)
Mammalia Lrrc46 30
  • 78.52 (n)
oppossum
(Monodelphis domestica)
Mammalia LRRC46 31
  • 53 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LRRC46 31
  • 45 (a)
OneToOne
chicken
(Gallus gallus)
Aves LRRC46 31 30
  • 59.38 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LRRC46 31
  • 54 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii lrrc6 31
  • 18 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta tilB 31
  • 16 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 24 (a)
OneToOne
Species where no ortholog for LRRC46 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for LRRC46 Gene

ENSEMBL:
Gene Tree for LRRC46 (if available)
TreeFam:
Gene Tree for LRRC46 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for LRRC46: view image

Paralogs for LRRC46 Gene

genes like me logo Genes that share paralogs with LRRC46: view

Variants for LRRC46 Gene

Additional dbSNP identifiers (rs#s) for LRRC46 Gene

Structural Variations from Database of Genomic Variants (DGV) for LRRC46 Gene

Variant ID Type Subtype PubMed ID
dgv947e212 CNV loss 25503493
nsv517880 CNV loss 19592680
nsv518892 CNV loss 19592680

Variation tolerance for LRRC46 Gene

Residual Variation Intolerance Score: 67.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.41; 54.35% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LRRC46 Gene

Human Gene Mutation Database (HGMD)
LRRC46
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LRRC46

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LRRC46 Gene

Disorders for LRRC46 Gene

MalaCards: The human disease database

(1) MalaCards diseases for LRRC46 Gene - From: DISEASES

Disorder Aliases PubMed IDs
ciliary dyskinesia, primary, 13
  • cild13
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for LRRC46

genes like me logo Genes that share disorders with LRRC46: view

No data available for UniProtKB/Swiss-Prot and Genatlas for LRRC46 Gene

Publications for LRRC46 Gene

  1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 54
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 54
  5. High-content genome-wide RNAi screens identify regulators of parkin upstream of mitophagy. (PMID: 24270810) Hasson SA … Youle RJ (Nature 2013) 3 54

Products for LRRC46 Gene

Sources for LRRC46 Gene