LRIG2
Leucine-rich repeats and immunoglobulin-like domains protein 2
Also known as: KIAA0806, LRIG2_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O94898
- Gene
- LRIG2
- Ensembl
- ENSG00000198799
- Chromosome
- 1
- Canonical length
- 1065 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted membrane proteins
- Subcellular location
- Nucleoplasm,Golgi apparatus
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
1065 residues, UniProt reviewed canonical sequence.
>O94898|LRIG2
1 MAPAPLGVPE EQLLGCRSRV LSRLLFIAQT ALLLLPAAGA GLCPAPCSCR IPLLDCSRRK
61 LPAPSWRALS GLLPPDTAIL DFSHNRLSNW NISLESQTLQ EVKMNYNELT EIPYFGEPTS
121 NITLLSLVHN IIPEINAQAL QFYPALESLD LSSNIISEIK TSSFPRMQLK YLNLSNNRIT
181 TLEAGCFDNL SSSLLVVKLN RNRMSMIPPK IFKLPHLQFL ELKRNRIKIV EGLTFQGLDS
241 LRSLKMQRNG ISKLKDGAFF GLNNMEELEL EHNNLTRVNK GWLYGLRMLQ QLYVSQNAIE
301 RISPDAWEFC QRLSELDLSY NQLTRLDESA FVGLSLLERL NLGDNRVTHI ADGVFRFLSN
361 LQTLDLRNNE ISWAIEDASE AFAGLTSLTK LILQGNQIKS ITKKAFIGLE SLEHLDLNNN
421 AIMSIQENAF SQTHLKELIL NTSSLLCDCH LKWLLQWLVD NNFQHSVNVS CAHPEWLAGQ
481 SILNVDLKDF VCDDFLKPQI RTHPETIIAL RGMNVTLTCT AVSSSDSPMS TVWRKDSEIL
541 YDVDTENFVR YWQQAGEALE YTSILHLFNV NFTDEGKYQC IVTNHFGSNY SQKAKLTVNE
601 MPSFLKTPMD LTIRTGAMAR LECAAEGHPA PQISWQKDGG TDFPAARERR MHVMPEDDVF
661 FIANVKIEDM GIYSCMAQNT AGGLSANASL TVLETPSFIR PLEDKTVTRG ETAVLQCIAG
721 GSPAPRLNWT KDDGPLLVTE RHFFAAANQL LIIVDAGLED AGKYTCIMSN TLGTERGHIY
781 LNVISSPNCD SSQSSIGHED DGWTTVGIVI IVVVCCVVGT SLIWVIVIYH MRRKNEDYSI
841 TNTEELNLPA DIPSYLSSQG TLSEPQEGYS NSEAGSHQQL MPPANGYIHK GTDGGTGTRV
901 ICSDCYDNAN IYSRTREYCP YTYIAEEDVL DQTLSSLMVQ MPKETYLVHP PQDTTALESL
961 IPSANREPSA FPTNHERISE KKLPSTQMSG ETLQRPVWNI NRELGLPHPP FSQQPVHESP
1021 QLHQNEGLAG REPDCSASSM SCHRLQDHAF DFSRTRNIQD GSEGTLocalizationUniProt · AlphaFold · HPA
Whether an antibody against LRIG2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 1
- Mean surface accessibility (rSASA)
- 0.38
- Highest tissue expression
- 5.9 nTPM
Expression across tissuesHPA
Tissue
- retina: 5.9 nTPM
- skin: 4.2 nTPM
- cerebellum: 4.1 nTPM
- ovary: 3.7 nTPM
- epididymis: 3.6 nTPM
- skeletal muscle: 3.6 nTPM
Single-cell type
- myonuclei: 164 nCPM
- cardiomyocytes: 117 nCPM
- choroid plexus epithelial cells: 97 nCPM
- oligodendrocytes: 88 nCPM
- proximal tubule cells: 85 nCPM
- adipocytes: 77 nCPM
Immune cell
- basophil: 1.9 nTPM
- naive B-cell: 1.4 nTPM
- NK-cell: 1.4 nTPM
- naive CD4 T-cell: 1.1 nTPM
- MAIT T-cell: 1 nTPM
- naive CD8 T-cell: 1 nTPM
Brain region
- white matter: 19 nTPM
- cerebellum: 15 nTPM
- basal ganglia: 14 nTPM
- medulla oblongata: 14 nTPM
- thalamus: 13 nTPM
- midbrain: 13 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about LRIG2.
Disease | AllUniProt
Conditions LRIG2 is implicated in, by any mechanism.
- Urofacial syndrome 2 (UFS2) MIM:615112
Disease | GeneticClinVar
15 pathogenic / likely-pathogenic of 223 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Urofacial syndrome 2
- Global developmental delay
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.91
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.48
- DepMap mean gene effect
- -0.11
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- innervation
- membrane protein ectodomain proteolysis
- negative regulation of axon regeneration
- negative regulation of membrane protein ectodomain proteolysis
- positive regulation of protein localization to cell surface
- protein localization to cell surface
- regulation of neuron migration
- regulation of platelet-derived growth factor receptor signaling pathway
- sensory perception of sound
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Cysteine-rich flanking region, C-terminal
- Leucine-rich repeat
- Leucine-rich repeat, typical subtype
- Immunoglobulin subtype 2
- Immunoglobulin domain subtype
- Immunoglobulin-like domain
- Immunoglobulin I-set
- Immunoglobulin-like fold
- Leucine-rich repeat domain superfamily
- Immunoglobulin-like domain superfamily
- Leucine-rich repeat and fibronectin type-III domain-containing
- Leucine rich repeat C-terminal domain
- Immunoglobulin I-set domain
- Leucine rich repeat
- Immunoglobulin domain
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads LRIG2 as an antibody target. Whether an autoantibody or antibody against LRIG2 could matter depends on whether native LRIG2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
LRIG2 is annotated at the cell surface, where native LRIG2 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label LRIG2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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