This gene encodes a member of the leucine-rich repeat-containing family of proteins, which function in diverse biological pathways. This family member may possibly be a nuclear protein. Similarity to the RAS suppressor protein, as well as expression down-regulation observed in tumor cells, suggests that it may function as a tumor suppressor. The gene is located in the chromosom... See more...

Aliases for LRRC2 Gene

Aliases for LRRC2 Gene

  • Leucine Rich Repeat Containing 2 2 3 5
  • Leucine-Rich Repeat-Containing Protein 2 3 4
  • Leucine-Rich Repeat-Containing 2 2
  • LRRC2 5

External Ids for LRRC2 Gene

Previous GeneCards Identifiers for LRRC2 Gene

  • GC02P136936
  • GC03M045735
  • GC03M046376
  • GC03M046517
  • GC03M046531
  • GC03M046556

Summaries for LRRC2 Gene

Entrez Gene Summary for LRRC2 Gene

  • This gene encodes a member of the leucine-rich repeat-containing family of proteins, which function in diverse biological pathways. This family member may possibly be a nuclear protein. Similarity to the RAS suppressor protein, as well as expression down-regulation observed in tumor cells, suggests that it may function as a tumor suppressor. The gene is located in the chromosome 3 common eliminated region 1 (C3CER1), a 1.4 Mb region that is commonly deleted in diverse tumors. A related pseudogene has been identified on chromosome 2. [provided by RefSeq, Sep 2011]

GeneCards Summary for LRRC2 Gene

LRRC2 (Leucine Rich Repeat Containing 2) is a Protein Coding gene. Diseases associated with LRRC2 include Severe Combined Immunodeficiency and Ullrich Congenital Muscular Dystrophy 1. An important paralog of this gene is LRRC39.

Additional gene information for LRRC2 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LRRC2 Gene

Genomics for LRRC2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for LRRC2 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
GH03J046564 Promoter/Enhancer 1.6 EPDnew FANTOM5 Ensembl ENCODE 644.8 +14.1 14089 2.8 KDM1A FOXA1 ZIC2 PKNOX1 RXRB EZH2 PBX2 ZNF600 ZNF341 FOXJ2 LRRC2 lnc-LTF-2 piR-50444-309 LTF RTP3 PRSS50 PRSS46P CCRL2 SCAP LRRC2-AS1
GH03J046606 Promoter 0.6 EPDnew 600.3 -26.9 -26869 0.1 ZNF395 ZNF589 ZNF354B RNF2 ZBTB40 LRRC2 RN7SL145P SETD2 PTPN23 BOLA2P2 SACM1L FAM240A piR-50477 piR-50852-094 ENSG00000283877
GH03J046556 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 60.8 +22.1 22095 3.8 ARHGAP35 GATAD2A CTCF REST IKZF1 NFKBIZ ZNF143 ZNF24 RAD21 IRF2 LRRC2-AS1 LRRC2 RTP3 LTF CCR2 TDGF1 lnc-LTF-2
GH03J046572 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 45.5 +3.7 3747 8.7 GATAD2A TEAD4 SOX13 RCOR2 ZSCAN4 RXRB SP1 POLR2A EZH2 GABPA TDGF1 LRRC2 CCRL2 NONHSAG034958.2
GH03J046560 Enhancer 0.4 Ensembl 49.4 +18.3 18298 3.2 CTCF CBX3 USF1 LRRC2 LRRC2-AS1 RTP3 LTF CCR2 lnc-LTF-2 TDGF1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LRRC2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LRRC2

Top Transcription factor binding sites by QIAGEN in the LRRC2 gene promoter:
  • ATF6
  • Bach2
  • En-1
  • FOXL1
  • FOXO4
  • LCR-F1
  • POU3F2
  • POU3F2 (N-Oct-5a)

Genomic Locations for LRRC2 Gene

Genomic Locations for LRRC2 Gene
chr3:46,515,385-46,580,099
(GRCh38/hg38)
Size:
64,715 bases
Orientation:
Minus strand
chr3:46,556,876-46,621,589
(GRCh37/hg19)
Size:
64,714 bases
Orientation:
Minus strand

Genomic View for LRRC2 Gene

Genes around LRRC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LRRC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LRRC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LRRC2 Gene

Proteins for LRRC2 Gene

  • Protein details for LRRC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BYS8-LRRC2_HUMAN
    Recommended name:
    Leucine-rich repeat-containing protein 2
    Protein Accession:
    Q9BYS8
    Secondary Accessions:
    • B2RDQ7
    • Q96LT5

    Protein attributes for LRRC2 Gene

    Size:
    371 amino acids
    Molecular mass:
    42943 Da
    Quaternary structure:
    No Data Available

neXtProt entry for LRRC2 Gene

Post-translational modifications for LRRC2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for LRRC2 Gene

No data available for DME Specific Peptides for LRRC2 Gene

Domains & Families for LRRC2 Gene

Gene Families for LRRC2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for LRRC2 Gene

Suggested Antigen Peptide Sequences for LRRC2 Gene

GenScript: Design optimal peptide antigens:
  • Leucine-rich repeat-containing protein 2 (LRRC2_HUMAN)
genes like me logo Genes that share domains with LRRC2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for LRRC2 Gene

Function for LRRC2 Gene

Phenotypes From GWAS Catalog for LRRC2 Gene

Gene Ontology (GO) - Molecular Function for LRRC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004722 protein serine/threonine phosphatase activity IBA 21873635
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with LRRC2: view
genes like me logo Genes that share phenotypes with LRRC2: view

Animal Models for LRRC2 Gene

MGI Knock Outs for LRRC2:
  • Lrrc2 Lrrc2<tm1b(EUCOMM)Wtsi>

Animal Model Products

  • Taconic Biosciences Mouse Models for LRRC2

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LRRC2

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for LRRC2 Gene

Localization for LRRC2 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 LRRC2 gene
Compartment Confidence
nucleus 3
cytosol 2
mitochondrion 1
extracellular 0
endoplasmic reticulum 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for LRRC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
GO:0043231 intracellular membrane-bounded organelle IBA 21873635
genes like me logo Genes that share ontologies with LRRC2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for LRRC2 Gene

Pathways & Interactions for LRRC2 Gene

PathCards logo

SuperPathways for LRRC2 Gene

No Data Available

Interacting Proteins for LRRC2 Gene

Gene Ontology (GO) - Biological Process for LRRC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IBA 21873635
genes like me logo Genes that share ontologies with LRRC2: view

No data available for Pathways by source and SIGNOR curated interactions for LRRC2 Gene

Drugs & Compounds for LRRC2 Gene

No Compound Related Data Available

Transcripts for LRRC2 Gene

mRNA/cDNA for LRRC2 Gene

2 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
4 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 LRRC2

Alternative Splicing Database (ASD) splice patterns (SP) for LRRC2 Gene

No ASD Table

Relevant External Links for LRRC2 Gene

GeneLoc Exon Structure for
LRRC2

Expression for LRRC2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for LRRC2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for LRRC2 Gene

This gene is overexpressed in Muscle - Skeletal (x21.4) and Heart - Left Ventricle (x12.0).

Protein differential expression in normal tissues from HIPED for LRRC2 Gene

This gene is overexpressed in Heart (55.0) and CD4 Tcells (14.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for LRRC2 Gene



Protein tissue co-expression partners for LRRC2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LRRC2

SOURCE GeneReport for Unigene cluster for LRRC2 Gene:

Hs.657345

Evidence on tissue expression from TISSUES for LRRC2 Gene

  • Heart(2.5)
  • Muscle(2.4)
genes like me logo Genes that share expression patterns with LRRC2: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for LRRC2 Gene

Orthologs for LRRC2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for LRRC2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia LRRC2 30 31
  • 99.64 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia LRRC2 30 31
  • 88.68 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia LRRC2 30 31
  • 87.87 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Lrrc2 30 17 31
  • 82.93 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Lrrc2 30
  • 82.48 (n)
Oppossum
(Monodelphis domestica)
Mammalia LRRC2 31
  • 77 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia LRRC2 31
  • 50 (a)
OneToOne
Chicken
(Gallus gallus)
Aves LRRC2 30 31
  • 70.08 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia LRRC2 31
  • 69 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100486200 30
  • 66.21 (n)
Zebrafish
(Danio rerio)
Actinopterygii lrrc2 30
  • 57.64 (n)
LRRC2 31
  • 47 (a)
OneToOne
Species where no ortholog for LRRC2 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 LRRC2 Gene

ENSEMBL:
Gene Tree for LRRC2 (if available)
TreeFam:
Gene Tree for LRRC2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for LRRC2: view image

Paralogs for LRRC2 Gene

(1) SIMAP similar genes for LRRC2 Gene using alignment to 1 proteins:

  • LRRC2_HUMAN

Pseudogenes.org Pseudogenes for LRRC2 Gene

genes like me logo Genes that share paralogs with LRRC2: view

Variants for LRRC2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LRRC2 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
708653 Benign: not provided 46,521,635(-) G/A MISSENSE_VARIANT
712053 Benign: not provided 46,539,186(-) A/T MISSENSE_VARIANT
731673 Benign: not provided 46,532,867(-) T/G MISSENSE_VARIANT
773180 Likely Benign: not provided 46,579,155(-) A/G INTRON_VARIANT
778070 Benign: not provided 46,579,846(-) C/G MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for LRRC2 Gene

Structural Variations from Database of Genomic Variants (DGV) for LRRC2 Gene

Variant ID Type Subtype PubMed ID
esv3596063 CNV loss 21293372
nsv1013306 CNV gain 25217958
nsv1123643 CNV deletion 24896259
nsv507093 OTHER sequence alteration 20534489

Variation tolerance for LRRC2 Gene

Residual Variation Intolerance Score: 94.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.57; 88.96% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LRRC2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
LRRC2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LRRC2 Gene

Disorders for LRRC2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for LRRC2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
severe combined immunodeficiency
  • combined t and b cell inborn immunodeficiency
ullrich congenital muscular dystrophy 1
  • ucmd1
- elite association - COSMIC cancer census association via MalaCards
Search LRRC2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for LRRC2

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 LRRC2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for LRRC2 Gene

Publications for LRRC2 Gene

  1. The transcriptional map of the common eliminated region 1 (C3CER1) in 3p21.3. (PMID: 11896456) Kiss H … Dumanski JP (European journal of human genetics : EJHG 2002) 2 3 4
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. 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
  5. A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface. (PMID: 26638075) Gupta GD … Pelletier L (Cell 2015) 3

Products for LRRC2 Gene

  • Signalway Proteins for LRRC2

Sources for LRRC2 Gene