Gene Gene information from NCBI Gene database.
Entrez ID 9860
Gene name Leucine rich repeats and immunoglobulin like domains 2
Gene symbol LRIG2
Synonyms (NCBI Gene)
LIG-2LIG2UFS2
Chromosome 1
Chromosome location 1p13.2
Summary 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 cel
SNPs SNP information provided by dbSNP.
6
SNP ID Visualize variation Clinical significance Consequence
rs587776945 A>- Pathogenic Coding sequence variant, frameshift variant, genic upstream transcript variant, 5 prime UTR variant
rs587776946 C>T Pathogenic Stop gained, coding sequence variant
rs587776947 C>- Pathogenic Coding sequence variant, frameshift variant
rs1399525051 G>T Likely-pathogenic Coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, stop gained
rs1557914199 C>A Likely-pathogenic Intron variant, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
723
miRTarBase ID miRNA Experiments Reference
MIRT725402 hsa-miR-3200-5p HITS-CLIP 19536157
MIRT725401 hsa-miR-16-2-3p HITS-CLIP 19536157
MIRT725400 hsa-miR-195-3p HITS-CLIP 19536157
MIRT725398 hsa-miR-4251 HITS-CLIP 19536157
MIRT725399 hsa-miR-4329 HITS-CLIP 19536157
Transcription factors Transcription factors information provided by TRRUST V2 database.
3
Transcription factor Regulation Reference
FOS Unknown 22721266
TAF1 Unknown 22721266
YY1 Unknown 22721266
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
GO ID Ontology Definition Evidence Reference
GO:0005102 Function Signaling receptor binding IEA
GO:0005515 Function Protein binding IPI 25353163, 30015847
GO:0005737 Component Cytoplasm IEA
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608869 20889 ENSG00000198799
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O94898
Protein name Leucine-rich repeats and immunoglobulin-like domains protein 2 (LIG-2)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13855 LRR_8 144 194 Leucine rich repeat Repeat
PF13855 LRR_8 240 299 Leucine rich repeat Repeat
PF13855 LRR_8 289 347 Leucine rich repeat Repeat
PF13855 LRR_8 311 371 Leucine rich repeat Repeat
PF13855 LRR_8 335 398 Leucine rich repeat Repeat
PF01463 LRRCT 468 493 Leucine rich repeat C-terminal domain Family
PF13927 Ig_3 497 584 Domain
PF07679 I-set 602 692 Immunoglobulin I-set domain Domain
PF07679 I-set 696 783 Immunoglobulin I-set domain Domain
Tissue specificity TISSUE SPECIFICITY: Detected in all tissues analyzed. {ECO:0000269|PubMed:15145052}.
Sequence
MAPAPLGVPEEQLLGCRSRVLSRLLFIAQTALLLLPAAGAGLCPAPCSCRIPLLDCSRRK
LPAPSWRALSGLLPPDTAILDFSHNRLSNWNISLESQTLQEVKMNYNELTEIPYFGEPTS
NITLLSLVHNIIPEINAQALQFYPALESLDLSSNIISEIKTSSFPRMQLKYLNLSNNRIT
TLEAGCFDNLSSSL
LVVKLNRNRMSMIPPKIFKLPHLQFLELKRNRIKIVEGLTFQGLDS
LRSLKMQRNGISKLKDGAFFGLNNMEELELEHNNLTRVNKGWLYGLRM
LQQLYVSQNAIE
RISPDAWEFCQRLSELDLSYNQLTRLDESAFVGLSLLERLNLGDNRVTHIADGVFRFLSN
LQTLDLRNNEI
SWAIEDASEAFAGLTSLTKLILQGNQI
KSITKKAFIGLESLEHLDLNNN
AIMSIQENAFSQTHLKELILNTSSLLCDCHLKWLLQWLVDNNFQHSVNVSCAHPEWLAGQ
SILNVDLKDFVCD
DFLKPQIRTHPETIIALRGMNVTLTCTAVSSSDSPMSTVWRKDSEIL
YDVDTENFVRYWQQAGEALEYTSILHLFNVNFTDEGKYQCIVTN
HFGSNYSQKAKLTVNE
MPSFLKTPMDLTIRTGAMARLECAAEGHPAPQISWQKDGGTDFPAARERRMHVMPEDDVF
FIANVKIEDMGIYSCMAQNTAGGLSANASLTV
LETPSFIRPLEDKTVTRGETAVLQCIAG
GSPAPRLNWTKDDGPLLVTERHFFAAANQLLIIVDAGLEDAGKYTCIMSNTLGTERGHIY
LNV
ISSPNCDSSQSSIGHEDDGWTTVGIVIIVVVCCVVGTSLIWVIVIYHMRRKNEDYSI
TNTEELNLPADIPSYLSSQGTLSEPQEGYSNSEAGSHQQLMPPANGYIHKGTDGGTGTRV
ICSDCYDNANIYSRTREYCPYTYIAEEDVLDQTLSSLMVQMPKETYLVHPPQDTTALESL
IPSANREPSAFPTNHERISEKKLPSTQMSGETLQRPVWNINRELGLPHPPFSQQPVHESP
QLHQNEGLAGREPDCSASSMSCHRLQDHAFDFSRTRNIQDGSEGT
Sequence length 1065
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Axon guidance  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
12
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Global developmental delay Pathogenic rs1199575794 RCV001255419
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Urofacial syndrome 2 Pathogenic; Likely pathogenic rs587776945, rs587776946, rs587776947, rs1570764426 RCV000033224
RCV000033225
RCV000033226
RCV000824994
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CROHN'S DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LRIG2-related disorder Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OCHOA SYNDROME Disgenet, GWAS catalog
Disgenet, GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adult Oligodendroglioma Oligodendroglioma BEFREE 25353163
★☆☆☆☆
Found in Text Mining only
Bladder neck obstruction Bladder neck obstruction BEFREE 30885509
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Brain Neoplasms BEFREE 24023893
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 23313374, 27855655 Associate
★☆☆☆☆
Found in Text Mining only
Childhood Oligodendroglioma Oligodendroglioma BEFREE 25353163
★☆☆☆☆
Found in Text Mining only
Cryptorchidism Cryptorchidism HPO_DG
★☆☆☆☆
Found in Text Mining only
Endometrial adenocarcinoma Endometrial Adenocarcinoma BEFREE 29358688
★☆☆☆☆
Found in Text Mining only
Endometrial Neoplasms Endometrial Neoplasms BEFREE 29358688
★☆☆☆☆
Found in Text Mining only
Fecal Incontinence Bowel incontinence HPO_DG
★☆☆☆☆
Found in Text Mining only
Glioblastoma Glioblastoma BEFREE 19421009, 20446891, 25353163, 30015847, 30942453
★☆☆☆☆
Found in Text Mining only