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Aliases for LRRC40 Gene

Aliases for LRRC40 Gene

  • Leucine Rich Repeat Containing 40 2 3 5
  • Leucine-Rich Repeat-Containing Protein 40 3
  • Testicular Tissue Protein Li 109 3
  • DJ677H15.1 3

External Ids for LRRC40 Gene

Previous GeneCards Identifiers for LRRC40 Gene

  • GC01M070323
  • GC01M070610
  • GC01M068721

Summaries for LRRC40 Gene

GeneCards Summary for LRRC40 Gene

LRRC40 (Leucine Rich Repeat Containing 40) is a Protein Coding gene. An important paralog of this gene is LRRD1.

Gene Wiki entry for LRRC40 Gene

Additional gene information for LRRC40 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LRRC40 Gene

Genomics for LRRC40 Gene

Regulatory Elements for LRRC40 Gene

Enhancers for LRRC40 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01H070226 0.7 FANTOM5 dbSUPER 15.1 -20.7 -20741 0.4 POLR2A LRRC40 SRSF11 ANKRD13C GC01P070230 ENSG00000228988
GH01H070203 1.4 ENCODE dbSUPER 6.4 -0.2 -203 4.3 HDGF PKNOX1 MLX ARNT ARID4B SIN3A DMAP1 YY1 ZNF766 ZNF143 SRSF11 ZRANB2 LRRC40 ENSG00000228988
GH01H070219 1.3 ENCODE dbSUPER 5.9 -16.1 -16077 4.1 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF207 SRSF11 LRRC40 ENSG00000228988 GC01P070230
GH01H070227 0.5 dbSUPER 11.5 -22.0 -21966 0.7 ZNF362 PRDM6 ZSCAN5C TRIM28 SRSF11 LRRC40 GC01P070230 ENSG00000228988
GH01H070352 1.2 ENCODE 4.2 -148.5 -148511 3.6 HDGF PKNOX1 MLX ARNT ARID4B SIN3A ZNF2 YY1 ZNF766 ZNF143 HHLA3 ANKRD13C LRRC40 GC01M070275
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around LRRC40 on UCSC Golden Path with GeneCards custom track

Promoters for LRRC40 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Locations for LRRC40 Gene

Genomic Locations for LRRC40 Gene
60,877 bases
Minus strand

Genomic View for LRRC40 Gene

Genes around LRRC40 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LRRC40 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LRRC40 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LRRC40 Gene

Proteins for LRRC40 Gene

  • Protein details for LRRC40 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Leucine-rich repeat-containing protein 40
    Protein Accession:
    Secondary Accessions:
    • Q9BTR7
    • Q9NSK1
    • Q9NXC1

    Protein attributes for LRRC40 Gene

    602 amino acids
    Molecular mass:
    68250 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAA91094.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for LRRC40 Gene

Post-translational modifications for LRRC40 Gene

  • Ubiquitination at posLast=8686 and Lys93
  • Modification sites at PhosphoSitePlus

Other Protein References for LRRC40 Gene

No data available for DME Specific Peptides for LRRC40 Gene

Domains & Families for LRRC40 Gene

Gene Families for LRRC40 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for LRRC40 Gene

Suggested Antigen Peptide Sequences for LRRC40 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with LRRC40: view

No data available for UniProtKB/Swiss-Prot for LRRC40 Gene

Function for LRRC40 Gene

genes like me logo Genes that share phenotypes with LRRC40: view

Animal Model Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for LRRC40 Gene

Localization for LRRC40 Gene

Subcellular locations from

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 LRRC40 gene
Compartment Confidence
plasma membrane 3
nucleus 3
cytosol 3

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for LRRC40 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IBA --
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with LRRC40: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for LRRC40 Gene

Pathways & Interactions for LRRC40 Gene

SuperPathways for LRRC40 Gene

No Data Available

Gene Ontology (GO) - Biological Process for LRRC40 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IBA --
genes like me logo Genes that share ontologies with LRRC40: view

No data available for Pathways by source and SIGNOR curated interactions for LRRC40 Gene

Drugs & Compounds for LRRC40 Gene

No Compound Related Data Available

Transcripts for LRRC40 Gene

Unigene Clusters for LRRC40 Gene

Leucine rich repeat containing 40:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for LRRC40 Gene

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

Relevant External Links for LRRC40 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for LRRC40 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for LRRC40 Gene

Protein differential expression in normal tissues from HIPED for LRRC40 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (8.8), Fetal Brain (8.7), and Brain (8.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for LRRC40 Gene

Protein tissue co-expression partners for LRRC40 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of LRRC40 Gene:


SOURCE GeneReport for Unigene cluster for LRRC40 Gene:


Evidence on tissue expression from TISSUES for LRRC40 Gene

  • Nervous system(2.9)
genes like me logo Genes that share expression patterns with LRRC40: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for LRRC40 Gene

Orthologs for LRRC40 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for LRRC40 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia LRRC40 33 34
  • 99.61 (n)
(Bos Taurus)
Mammalia LRRC40 33 34
  • 89.37 (n)
(Canis familiaris)
Mammalia LRRC40 34 33
  • 89.23 (n)
(Mus musculus)
Mammalia Lrrc40 16 34 33
  • 82.34 (n)
(Rattus norvegicus)
Mammalia Lrrc40 33
  • 81.44 (n)
(Ornithorhynchus anatinus)
Mammalia LRRC40 34
  • 79 (a)
(Monodelphis domestica)
Mammalia LRRC40 34
  • 76 (a)
(Gallus gallus)
Aves LRRC40 34 33
  • 69.71 (n)
(Anolis carolinensis)
Reptilia LRRC40 34
  • 60 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia lrrc40 33
  • 63.95 (n)
(Danio rerio)
Actinopterygii lrrc40 33 34
  • 61.17 (n)
-- 33
fruit fly
(Drosophila melanogaster)
Insecta f-cup 33 34
  • 45.77 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006993 33
  • 45.4 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G15410 33
  • 44.18 (n)
(Oryza sativa)
Liliopsida Os02g0826600 33
  • 44.97 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU05545 33
  • 41.42 (n)
Species where no ortholog for LRRC40 was found in the sources mined by GeneCards:
  • 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)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • 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 blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for LRRC40 Gene

Gene Tree for LRRC40 (if available)
Gene Tree for LRRC40 (if available)

Paralogs for LRRC40 Gene

Paralogs for LRRC40 Gene

(2) SIMAP similar genes for LRRC40 Gene using alignment to 1 proteins: Pseudogenes for LRRC40 Gene

genes like me logo Genes that share paralogs with LRRC40: view

Variants for LRRC40 Gene

Sequence variations from dbSNP and Humsavar for LRRC40 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000105759 -- 70,189,781(+) TAGGT(A/G)TTATT intron-variant
rs1000179538 -- 70,176,399(+) TGGTG(A/G)AGCGT intron-variant
rs1000237886 -- 70,170,577(+) TCCTA(C/T)ACAGT intron-variant
rs1000317176 -- 70,161,753(+) ATCCT(C/G)TCTCT intron-variant
rs1000462542 -- 70,179,980(+) CAATT(A/G)AATGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for LRRC40 Gene

Variant ID Type Subtype PubMed ID
nsv823143 CNV loss 20364138
nsv1343 CNV insertion 18451855
nsv1076523 CNV deletion 25765185
nsv1005397 CNV gain 25217958
esv3586350 CNV loss 21293372
esv2665402 CNV deletion 23128226

Variation tolerance for LRRC40 Gene

Residual Variation Intolerance Score: 88.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.72; 46.50% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LRRC40 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LRRC40 Gene

Disorders for LRRC40 Gene

Relevant External Links for LRRC40

Atlas of Genetics and Cytogenetics in Oncology and Haematology:

No disorders were found for LRRC40 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for LRRC40 Gene

Publications for LRRC40 Gene

  1. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 60
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  3. 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 60
  4. 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 60
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60

Products for LRRC40 Gene

Sources for LRRC40 Gene

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