Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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9860 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Leucine rich repeats and immunoglobulin like domains 2 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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LRIG2 |
SynonymsGene synonyms aliases
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LIG-2, LIG2, UFS2 |
ChromosomeChromosome number
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1 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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1p13.2 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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 |
SNPsSNP information provided by dbSNP.
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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 |
rs1570764426 |
GA>- |
Likely-pathogenic |
Coding sequence variant, splice acceptor variant |
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miRNAmiRNA information provided by mirtarbase database.
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Transcription factors
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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UniProt ID |
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 |
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Domain |
PF07679 |
I-set |
602 → 692 |
Immunoglobulin I-set domain |
Domain |
PF07679 |
I-set |
696 → 783 |
Immunoglobulin I-set domain |
Domain |
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Sequence |
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Sequence length |
1065 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Cryptorchidism |
Cryptorchidism |
rs121912555, rs104894697, rs104894698, rs398122886 |
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Hypertension |
Hypertensive disease |
rs13306026, rs13333226 |
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Renal insufficiency |
Renal Insufficiency |
rs1596536873 |
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Urofacial syndrome |
UROFACIAL SYNDROME 2 |
rs267606866, rs397515338, rs1469962264, rs267606864, rs267606865, rs778121647, rs587776945, rs587776946, rs587776947, rs397515452, rs1570764426 |
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Vesicoureteral reflux |
Vesico-Ureteral Reflux |
rs587777684, rs148731211 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Bowel incontinence |
Fecal Incontinence |
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Hydronephrosis |
Hydronephrosis |
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Ochoa syndrome |
Ochoa syndrome |
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23313374 |
Urethral obstruction |
Urethral Obstruction |
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