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Aliases for LRIG2 Gene

Aliases for LRIG2 Gene

  • Leucine Rich Repeats And Immunoglobulin Like Domains 2 2 3 5
  • LIG-2 3 4
  • LIG2 3 4
  • Leucine-Rich Repeats And Immunoglobulin-Like Domains Protein 2 3
  • KIAA0806 4
  • UFS2 3

External Ids for LRIG2 Gene

Previous GeneCards Identifiers for LRIG2 Gene

  • GC01P112715
  • GC01P112914
  • GC01P113327
  • GC01P113417
  • GC01P113615
  • GC01P111474

Summaries for LRIG2 Gene

Entrez Gene Summary for LRIG2 Gene

  • This gene encodes a transmembrane protein containing leucine-rich repeats and immunoglobulin-like domains. The encoded protein promotes epidermal growth factor signalling, resulting in increased proliferation. Its expression in the cytoplasm of glioma cells is correlated with poor survival. Mutations in this gene can cause urofacial syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]

GeneCards Summary for LRIG2 Gene

LRIG2 (Leucine Rich Repeats And Immunoglobulin Like Domains 2) is a Protein Coding gene. Diseases associated with LRIG2 include Urofacial Syndrome 2 and Urofacial Syndrome 1. An important paralog of this gene is LRIG3.

Additional gene information for LRIG2 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LRIG2 Gene

Genomics for LRIG2 Gene

GeneHancer (GH) Regulatory Elements for LRIG2 Gene

Promoters and enhancers for LRIG2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I113071 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 578 0.0 -44 3 HDGF PKNOX1 CLOCK FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 IRF4 LRIG2 LOC100996251 LOC100421402 RSBN1 ST7L SLC16A1 PIRC4 GC01M113053
GH01I112696 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 49.5 -370.7 -370717 11.2 CLOCK MLX DMAP1 YY1 ZNF213 E2F8 ZNF143 ZNF263 SP3 MEF2D RHOC PIR38214 PIR32287 ST7L LOC100421402 LRIG2 CAPZA1 DDX20 WNT2B GC01M112698
GH01I113075 Enhancer 0.2 Ensembl 550.8 +1.9 1931 0.2 LOC100996251 LRIG2 PIRC4 GC01M113053
GH01I113927 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 36.6 +858.7 858738 8.4 MLX ZFP64 FEZF1 DMAP1 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC HIPK1 TRIM33 LOC100421402 LRIG2 RSBN1 SIKE1 DCLRE1B OLFML3 AP4B1 AP4B1-AS1
GH01I112507 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 36.4 -564.0 -564009 2.9 SIN3A GLI4 ZNF2 GLIS2 ZNF213 ZNF416 ZNF143 ZNF202 SP3 GLIS1 WNT2B LRIG2 ST7L LOC100421402 DDX20 GC01M112502 GC01P112514
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around LRIG2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the LRIG2 gene promoter:

Genomic Locations for LRIG2 Gene

Genomic Locations for LRIG2 Gene
59,091 bases
Plus strand

Genomic View for LRIG2 Gene

Genes around LRIG2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LRIG2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LRIG2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LRIG2 Gene

Proteins for LRIG2 Gene

  • Protein details for LRIG2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Leucine-rich repeats and immunoglobulin-like domains protein 2
    Protein Accession:
    Secondary Accessions:
    • Q9NSN2

    Protein attributes for LRIG2 Gene

    1065 amino acids
    Molecular mass:
    118965 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAA34526.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

neXtProt entry for LRIG2 Gene

Post-translational modifications for LRIG2 Gene

  • Glycosylation at isoforms=91, isoforms=121, posLast=173173, isoforms=189, isoforms=274, posLast=441441, posLast=468468, isoforms=514, posLast=571571, isoforms=589, posLast=687687, and posLast=728728
  • Modification sites at PhosphoSitePlus

Other Protein References for LRIG2 Gene

No data available for DME Specific Peptides for LRIG2 Gene

Domains & Families for LRIG2 Gene

Gene Families for LRIG2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for LRIG2 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with LRIG2: view

No data available for UniProtKB/Swiss-Prot for LRIG2 Gene

Function for LRIG2 Gene

Phenotypes From GWAS Catalog for LRIG2 Gene

Gene Ontology (GO) - Molecular Function for LRIG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 receptor binding IEA --
genes like me logo Genes that share ontologies with LRIG2: view
genes like me logo Genes that share phenotypes with LRIG2: view

Human Phenotype Ontology for LRIG2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for LRIG2 Gene

MGI Knock Outs for LRIG2:

Animal Model Products

  • Taconic Biosciences Mouse Models for LRIG2

miRNA for LRIG2 Gene

miRTarBase miRNAs that target LRIG2

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for LRIG2 Gene

Localization for LRIG2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LRIG2 Gene

Cell membrane; Single-pass type I membrane protein. Cytoplasm.

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 LRIG2 gene
Compartment Confidence
plasma membrane 5
nucleus 2
golgi apparatus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for LRIG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030426 growth cone IEA --
genes like me logo Genes that share ontologies with LRIG2: view

Pathways & Interactions for LRIG2 Gene

SuperPathways for LRIG2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for LRIG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007605 sensory perception of sound IEA --
GO:0010640 regulation of platelet-derived growth factor receptor signaling pathway IEA --
GO:0010977 negative regulation of neuron projection development IEA --
GO:0048679 regulation of axon regeneration IEA --
GO:0048681 negative regulation of axon regeneration IEA --
genes like me logo Genes that share ontologies with LRIG2: view

No data available for Pathways by source and SIGNOR curated interactions for LRIG2 Gene

Drugs & Compounds for LRIG2 Gene

No Compound Related Data Available

Transcripts for LRIG2 Gene

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for LRIG2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13a · 13b · 13c ^ 14a · 14b · 14c ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19 ^
SP1: - - - - - -
SP2: - -
SP3: - - -
SP5: -

ExUns: 20a · 20b

Relevant External Links for LRIG2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for LRIG2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for LRIG2 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for LRIG2 Gene

Protein tissue co-expression partners for LRIG2 Gene

NURSA nuclear receptor signaling pathways regulating expression of LRIG2 Gene:


SOURCE GeneReport for Unigene cluster for LRIG2 Gene:


mRNA Expression by UniProt/SwissProt for LRIG2 Gene:

Tissue specificity: Detected in all tissues analyzed.

Evidence on tissue expression from TISSUES for LRIG2 Gene

  • Nervous system(4.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for LRIG2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • digestive
  • immune
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • cranial nerve
  • face
  • head
  • skull
  • intestine
  • kidney
  • large intestine
  • rectum
  • testicle
  • ureter
  • urethra
  • urinary bladder
  • blood
  • peripheral nerve
  • peripheral nervous system
  • white blood cell
genes like me logo Genes that share expression patterns with LRIG2: view

No data available for mRNA differential expression in normal tissues and Protein differential expression in normal tissues for LRIG2 Gene

Orthologs for LRIG2 Gene

This gene was present in the common ancestor of animals.

Orthologs for LRIG2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia LRIG2 34
  • 99 (a)
(Bos Taurus)
Mammalia LRIG2 33 34
  • 90.92 (n)
(Canis familiaris)
Mammalia LRIG2 33 34
  • 90.52 (n)
(Mus musculus)
Mammalia Lrig2 33 16 34
  • 87.95 (n)
(Rattus norvegicus)
Mammalia Lrig2 33
  • 87.38 (n)
(Ornithorhynchus anatinus)
Mammalia LRIG2 34
  • 86 (a)
(Monodelphis domestica)
Mammalia LRIG2 34
  • 85 (a)
(Gallus gallus)
Aves LRIG2 33 34
  • 76.82 (n)
(Anolis carolinensis)
Reptilia LRIG2 34
  • 77 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia lrig2 33
  • 72.07 (n)
(Danio rerio)
Actinopterygii lrig2 34 33
  • 64.69 (n)
fruit fly
(Drosophila melanogaster)
Insecta lbk 34
  • 25 (a)
(Caenorhabditis elegans)
Secernentea sma-10 34
  • 28 (a)
Species where no ortholog for LRIG2 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 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for LRIG2 Gene

Gene Tree for LRIG2 (if available)
Gene Tree for LRIG2 (if available)

Paralogs for LRIG2 Gene

(4) SIMAP similar genes for LRIG2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with LRIG2: view

Variants for LRIG2 Gene

Sequence variations from dbSNP and Humsavar for LRIG2 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs587776945 pathogenic, Urofacial syndrome 2 113,100,267(+) AA/A 5_prime_UTR_variant, coding_sequence_variant, frameshift
rs587776946 pathogenic, Urofacial syndrome 2 113,114,471(+) C/T coding_sequence_variant, stop_gained
rs587776947 pathogenic, Urofacial syndrome 2 113,114,432(+) CCC/CC coding_sequence_variant, frameshift
rs398053355 benign, not specified 113,116,444(+) CTCT/CT intron_variant
rs1000047446 -- 113,108,175(+) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for LRIG2 Gene

Variant ID Type Subtype PubMed ID
esv24626 CNV loss 19812545
esv3539690 CNV deletion 23714750
esv3587231 CNV loss 21293372
esv3587232 CNV loss 21293372
esv3894045 CNV gain 25118596
nsv435694 CNV deletion 17901297
nsv437002 CNV loss 16327808
nsv508537 CNV deletion 20534489
nsv999915 CNV gain 25217958

Variation tolerance for LRIG2 Gene

Residual Variation Intolerance Score: 36.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.77; 66.65% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LRIG2 Gene

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

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LRIG2 Gene

Disorders for LRIG2 Gene

MalaCards: The human disease database

(9) MalaCards diseases for LRIG2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
urofacial syndrome 2
  • ufs2
urofacial syndrome 1
  • ufs1
vaginal cancer
  • malignant neoplasm of vagina
bladder exstrophy-epispadias-cloacal exstrophy complex
  • exstrophy-epispadias complex
- elite association - COSMIC cancer census association via MalaCards
Search LRIG2 in MalaCards View complete list of genes associated with diseases


  • Urofacial syndrome 2 (UFS2) [MIM:615112]: A rare autosomal recessive disorder characterized by facial grimacing when attempting to smile and failure of the urinary bladder to void completely despite a lack of anatomical bladder outflow obstruction or overt neurological damage. Affected individuals often have reflux of infected urine from the bladder to the upper renal tract, with a risk of kidney damage and renal failure. {ECO:0000269 PubMed:23313374}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for LRIG2

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with LRIG2: view

No data available for Genatlas for LRIG2 Gene

Publications for LRIG2 Gene

  1. Characterization and tissue-specific expression of human LRIG2. (PMID: 15145052) Holmlund C … Hedman H (Gene 2004) 3 4 22 58
  2. LRIG2 mutations cause urofacial syndrome. (PMID: 23313374) Stuart HM … Newman WG (American journal of human genetics 2013) 3 4 58
  3. A comprehensive study of the association between the EGFR and ERBB2 genes and glioma risk. (PMID: 20446891) Andersson U … Melin B (Acta oncologica (Stockholm, Sweden) 2010) 3 44 58
  4. The LRIG gene family has three vertebrate paralogs widely expressed in human and mouse tissues and a homolog in Ascidiacea. (PMID: 15203213) Guo D … Hedman H (Genomics 2004) 3 22 58
  5. Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 9872452) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1998) 3 4 58

Products for LRIG2 Gene

Sources for LRIG2 Gene

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