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 mul... See more...

Aliases for LRIG2 Gene

Aliases for LRIG2 Gene

  • Leucine Rich Repeats And Immunoglobulin Like Domains 2 2 3 5
  • Leucine-Rich Repeats And Immunoglobulin-Like Domains Protein 2 3 4
  • KIAA0806 2 4
  • LIG-2 3 4
  • LIG2 3 4
  • LRIG2 5
  • 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.

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LRIG2 Gene

Genomics for LRIG2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for LRIG2 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 LRIG2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LRIG2

Top Transcription factor binding sites by QIAGEN in the LRIG2 gene promoter:
  • aMEF-2
  • AP-4
  • Cart-1
  • En-1
  • MEF-2
  • MEF-2A
  • MIF-1
  • NRSF form 1
  • NRSF form 2
  • TGIF

Genomic Locations for LRIG2 Gene

Genomic Locations for LRIG2 Gene
chr1:113,073,170-113,132,260
(GRCh38/hg38)
Size:
59,091 bases
Orientation:
Plus strand
chr1:113,615,831-113,674,882
(GRCh37/hg19)
Size:
59,052 bases
Orientation:
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:
    O94898-LRIG2_HUMAN
    Recommended name:
    Leucine-rich repeats and immunoglobulin-like domains protein 2
    Protein Accession:
    O94898
    Secondary Accessions:
    • Q9NSN2

    Protein attributes for LRIG2 Gene

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

neXtProt entry for LRIG2 Gene

Post-translational modifications for LRIG2 Gene

  • Glycosylation at Asn91, Asn121, Asn173, Asn189, Asn274, Asn441, Asn468, Asn514, Asn571, Asn589, Asn687, and Asn728
  • 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

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

Protein Domains for LRIG2 Gene

InterPro:
Blocks:
  • Immunoglobulin C-2 type
  • Immunoglobulin subtype
  • Leucine-rich repeat signature
  • Cysteine-rich flanking region, C-terminal
ProtoNet:

Suggested Antigen Peptide Sequences for LRIG2 Gene

GenScript: Design optimal peptide antigens:
  • Leucine-rich repeats and immunoglobulin-like domains protein 2 (LRIG2_HUMAN)
genes like me logo Genes that share domains with LRIG2: view

No data available for Graphical View of Domain Structure and 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 signaling receptor binding IEA --
GO:0005515 protein binding IEA,IPI 25353163
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

CRISPR Products

miRNA for LRIG2 Gene

miRTarBase miRNAs that target LRIG2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LRIG2

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

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 LRIG2 gene
Compartment Confidence
plasma membrane 4
extracellular 3
nucleus 2
cytoskeleton 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for LRIG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IBA 21873635
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with LRIG2: view

Pathways & Interactions for LRIG2 Gene

PathCards logo

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

mRNA/cDNA for LRIG2 Gene

2 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
5 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 LRIG2

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: - - -
SP4:
SP5: -

ExUns: 20a · 20b
SP1:
SP2:
SP3:
SP4:
SP5:

Relevant External Links for LRIG2 Gene

GeneLoc Exon Structure for
LRIG2

Expression for LRIG2 Gene

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

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



Protein tissue co-expression partners for LRIG2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LRIG2

SOURCE GeneReport for Unigene cluster for LRIG2 Gene:

Hs.448972

mRNA Expression by UniProt/SwissProt for LRIG2 Gene:

O94898-LRIG2_HUMAN
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
Systems:
  • digestive
  • immune
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • cranial nerve
  • face
  • head
  • skull
Abdomen:
  • intestine
  • kidney
  • large intestine
Pelvis:
  • rectum
  • testicle
  • ureter
  • urethra
  • urinary bladder
General:
  • 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
Chimpanzee
(Pan troglodytes)
Mammalia LRIG2 31
  • 99 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia LRIG2 30 31
  • 90.92 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia LRIG2 30 31
  • 90.52 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Lrig2 30 17 31
  • 87.95 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Lrig2 30
  • 87.38 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia LRIG2 31
  • 86 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia LRIG2 31
  • 85 (a)
OneToOne
Chicken
(Gallus gallus)
Aves LRIG2 30 31
  • 76.82 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia LRIG2 31
  • 77 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia lrig2 30
  • 72.07 (n)
Zebrafish
(Danio rerio)
Actinopterygii lrig2 30 31
  • 64.69 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta lbk 31
  • 25 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea sma-10 31
  • 28 (a)
OneToMany
Species where no ortholog for LRIG2 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)
  • 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)

Evolution for LRIG2 Gene

ENSEMBL:
Gene Tree for LRIG2 (if available)
TreeFam:
Gene Tree for LRIG2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for LRIG2: view image

Paralogs for LRIG2 Gene

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

  • LRIG2_HUMAN
genes like me logo Genes that share paralogs with LRIG2: view

Variants for LRIG2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LRIG2 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
666570 Likely Pathogenic: Urofacial syndrome 2 113,112,476(+) CAG/C
708509 Likely Benign: not provided 113,119,351(+) A/G SYNONYMOUS_VARIANT
709189 Likely Benign: not provided 113,100,474(+) T/C SYNONYMOUS_VARIANT
714080 Likely Benign: not provided 113,073,412(+) G/C SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT
715246 Benign: not provided 113,110,556(+) G/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for LRIG2 Gene

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)
LRIG2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LRIG2

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

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

Disorder Aliases PubMed IDs
urofacial syndrome 2
  • ufs2
urofacial syndrome 1
  • ufs1
lagophthalmos
oligodendroglioma
  • oligodendroglial neoplasm
prune belly syndrome
  • pbs
- elite association - COSMIC cancer census association via MalaCards
Search LRIG2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

LRIG2_HUMAN
  • 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
(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 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 23
  2. LRIG2 mutations cause urofacial syndrome. (PMID: 23313374) Stuart HM … Newman WG (American journal of human genetics 2013) 3 4
  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 41
  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 23
  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

Products for LRIG2 Gene

Sources for LRIG2 Gene