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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 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]
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.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005102 | signaling receptor binding | IEA | -- |
GO:0005515 | protein binding | IEA,IPI | 25353163 |
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 | -- |
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 | -- |
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: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | LRIG2 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | LRIG2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | LRIG2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Lrig2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Lrig2 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | LRIG2 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | LRIG2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | LRIG2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | LRIG2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | lrig2 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | lrig2 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | lbk 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | sma-10 31 |
|
OneToMany |
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 |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
urofacial syndrome 2 |
|
|
urofacial syndrome 1 |
|
|
lagophthalmos |
|
|
oligodendroglioma |
|
|
prune belly syndrome |
|
|