LRIG2
entrez
9860
canonical
uniprot
O94898
canonical
ensembl
ENSG00000198799
resolver
ensp
ENSP00000355396
resolver
ensp
ENSP00000560514
resolver
enst
ENST00000361127
resolver
genesymbol
LRIG2
resolver
genesymbol_syn
KIAA0806
resolver
genesymbol_syn
LIG2
resolver
hgnc
HGNC:20889
resolver
uniprot
Q9NSN2
resolver
uniprot_entry
LRIG2_HUMAN
resolver
uniprot_sec
Q9NSN2
resolver
amino_acid_sequence
MAPAPLGVPEEQLLGCRSRVLSRLLFIAQTALLLLPAAGAGLCPAPCSCRIPLLDCSRRKLPAPSWRALSGLLPPDTAILDFSHNRLSNWNISLESQTLQEVKMNYNELTEIPYFGEPTSNITLLSLVHNIIPEINAQALQFYPALESLDLSSNIISEIKTSSFPRMQLKYLNLSNNRITTLEAGCFDNLSSSLLVVKLNRNRMSMIPPKIFKLPHLQFLELKRNRIKIVEGLTFQGLDSLRSLKMQRNGISKLKDGAFFGLNNMEELELEHNNLTRVNKGWLYGLRMLQQLYVSQNAIERISPDAWEFCQRLSELDLSYNQLTRLDESAFVGLSLLERLNLGDNRVTHIADGVFRFLSNLQTLDLRNNEISWAIEDASEAFAGLTSLTKLILQGNQIKSITKKAFIGLESLEHLDLNNNAIMSIQENAFSQTHLKELILNTSSLLCDCHLKWLLQWLVDNNFQHSVNVSCAHPEWLAGQSILNVDLKDFVCDDFLKPQIRTHPETIIALRGMNVTLTCTAVSSSDSPMSTVWRKDSEILYDVDTENFVRYWQQAGEALEYTSILHLFNVNFTDEGKYQCIVTNHFGSNYSQKAKLTVNEMPSFLKTPMDLTIRTGAMARLECAAEGHPAPQISWQKDGGTDFPAARERRMHVMPEDDVFFIANVKIEDMGIYSCMAQNTAGGLSANASLTVLETPSFIRPLEDKTVTRGETAVLQCIAGGSPAPRLNWTKDDGPLLVTERHFFAAANQLLIIVDAGLEDAGKYTCIMSNTLGTERGHIYLNVISSPNCDSSQSSIGHEDDGWTTVGIVIIVVVCCVVGTSLIWVIVIYHMRRKNEDYSITNTEELNLPADIPSYLSSQGTLSEPQEGYSNSEAGSHQQLMPPANGYIHKGTDGGTGTRVICSDCYDNANIYSRTREYCPYTYIAEEDVLDQTLSSLMVQMPKETYLVHPPQDTTALESLIPSANREPSAFPTNHERISEKKLPSTQMSGETLQRPVWNINRELGLPHPPFSQQPVHESPQLHQNEGLAGREPDCSASSMSCHRLQDHAFDFSRTRNIQDGSEGT
uniprot
proteins
disease_involvement
DISEASE: Urofacial syndrome 2 (UFS2) [MIM:615112]: A rare autosomal recessive disorder characterized by facial grimacing when attempting to smile and failure of the urinary bladder to void completely despite a lack of anatomical bladder outflow obstruction or overt neurological damage. Affected individuals often have reflux of infected urine from the bladder to the upper renal tract, with a risk of kidney damage and renal failure. {ECO:0000269|PubMed:23313374}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
mass_dalton
118965
uniprot
proteins
pubmed
15145052
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
23313374
uniprot
proteins
pubmed
9872452
uniprot
proteins
sequence_length
1065
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:15145052}; Single-pass type I membrane protein {ECO:0000269|PubMed:15145052}. Cytoplasm {ECO:0000269|PubMed:15145052}.
uniprot
proteins
transmembrane_region
TRANSMEM 808..828; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins