Gene Gene information from NCBI Gene database.
Entrez ID 121227
Gene name Leucine rich repeats and immunoglobulin like domains 3
Gene symbol LRIG3
Synonyms (NCBI Gene)
LIG3
Chromosome 12
Chromosome location 12q14.1
miRNA miRNA information provided by mirtarbase database.
248
miRTarBase ID miRNA Experiments Reference
MIRT016034 hsa-miR-374b-5p Sequencing 20371350
MIRT031125 hsa-miR-19b-3p Sequencing 20371350
MIRT051405 hsa-let-7f-5p CLASH 23622248
MIRT050669 hsa-miR-18a-5p CLASH 23622248
MIRT048604 hsa-miR-99a-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
10
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 23723069, 30429017, 33961781
GO:0005615 Component Extracellular space HDA 22664934
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IEA
GO:0007605 Process Sensory perception of sound IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608870 30991 ENSG00000139263
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6UXM1
Protein name Leucine-rich repeats and immunoglobulin-like domains protein 3 (LIG-3)
Protein function May play a role in craniofacial and inner ear morphogenesis during embryonic development. May act within the otic vesicle epithelium to control formation of the lateral semicircular canal in the inner ear, possibly by restricting the expression
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13855 LRR_8 121 179 Leucine rich repeat Repeat
PF13855 LRR_8 167 227 Leucine rich repeat Repeat
PF13855 LRR_8 215 275 Leucine rich repeat Repeat
PF13855 LRR_8 263 323 Leucine rich repeat Repeat
PF13855 LRR_8 311 371 Leucine rich repeat Repeat
PF13855 LRR_8 375 446 Leucine rich repeat Repeat
PF13927 Ig_3 498 585 Domain
PF07679 I-set 603 693 Immunoglobulin I-set domain Domain
PF07679 I-set 697 784 Immunoglobulin I-set domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:15203213}.
Sequence
MSAPSLRARAAGLGLLLCAVLGRAGRSDSGGRGELGQPSGVAAERPCPTTCRCLGDLLDC
SRKRLARLPEPLPSWVARLDLSHNRLSFIKASSMSHLQSLREVKLNNNELETIPNLGPVS
ANITLLSLAGNRIVEILPEHLKEFQSLETLDLSSNNISELQTAFPALQLKYLYLNSNRVT
SMEPGYFDNLANTLLVLKLNRNRISAIPPKMFKLPQLQHLELNRNKIKNVDGLTFQGLGA
LKSLKMQRNGVTKLMDGAFWGLSNMEILQLDHNNLTEITKGWLYGLLMLQELHLSQNAIN
RISPDAWEFCQKLSELDLTFNHLSRLDDSSFLGLSLLNTLHIGNNRVSYIADCAFRGLSS
LKTLDLKNNEI
SWTIEDMNGAFSGLDKLRRLILQGNRIRSITKKAFTGLDALEHLDLSDN
AIMSLQGNAFSQMKKLQQLHLNTSSL
LCDCQLKWLPQWVAENNFQSFVNASCAHPQLLKG
RSIFAVSPDGFVCDDFPKPQITVQPETQSAIKGSNLSFICSAASSSDSPMTFAWKKDNEL
LHDAEMENYAHLRAQGGEVMEYTTILRLREVEFASEGKYQCVISN
HFGSSYSVKAKLTVN
MLPSFTKTPMDLTIRAGAMARLECAAVGHPAPQIAWQKDGGTDFPAARERRMHVMPEDDV
FFIVDVKIEDIGVYSCTAQNSAGSISANATLTV
LETPSFLRPLLDRTVTKGETAVLQCIA
GGSPPPKLNWTKDDSPLVVTERHFFAAGNQLLIIVDSDVSDAGKYTCEMSNTLGTERGNV
RLSV
IPTPTCDSPQMTAPSLDDDGWATVGVVIIAVVCCVVGTSLVWVVIIYHTRRRNEDC
SITNTDETNLPADIPSYLSSQGTLADRQDGYVSSESGSHHQFVTSSGAGFFLPQHDSSGT
CHIDNSSEADVEAATDLFLCPFLGSTGPMYLKGNVYGSDPFETYHTGCSPDPRTVLMDHY
EPSYIKKKECYPCSHPSEESCERSFSNISWPSHVRKLLNTSYSHNEGPGMKNLCLNKSSL
DFSANPEPASVASSNSFMGTFGKALRRPHLDAYSSFGQPSDCQPRAFYLKAHSSPDLDSG
SEEDGKERTDFQEENHICTFKQTLENYRTPNFQSYDLDT
Sequence length 1119
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
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)
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
CARCINOMA, BASAL CELL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Familial cancer of breast Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GASTRIC CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GASTRIC CARCINOMA 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
Adenoma of large intestine Colorectal adenoma BEFREE 23951112
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 29474873 Associate
★☆☆☆☆
Found in Text Mining only
Anencephaly Anencephaly Pubtator 30022792 Associate
★☆☆☆☆
Found in Text Mining only
Ataxia Telangiectasia Ataxia Telangiectasia BEFREE 24342190
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 17203305
★☆☆☆☆
Found in Text Mining only
Bloom Syndrome Bloom syndrome Pubtator 8265359 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 16492928, 28940489
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 40493574 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 30310528 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of bladder Bladder carcinoma BEFREE 17203305
★☆☆☆☆
Found in Text Mining only