Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 8549
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol LGR5   Gene   UCSC   Ensembl
Aliases FEX, GPR49, GPR67, GRP49, HG38
Gene name leucine rich repeat containing G protein-coupled receptor 5
Alternate names leucine-rich repeat-containing G-protein coupled receptor 5, G-protein coupled receptor 49, G-protein coupled receptor 67, G-protein coupled receptor HG38, orphan G protein-coupled receptor HG38,
Gene location 12q21.1 (71439769: 71586309)     Exons: 19     NC_000012.12
Gene summary(Entrez) The protein encoded by this gene is a leucine-rich repeat-containing receptor (LGR) and member of the G protein-coupled, 7-transmembrane receptor (GPCR) superfamily. The encoded protein is a receptor for R-spondins and is involved in the canonical Wnt signaling pathway. This protein plays a role in the formation and maintenance of adult intestinal stem cells during postembryonic development. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]
OMIM 606667

Protein Summary

Protein general information O75473  

Name: Leucine-rich repeat-containing G-protein coupled receptor 5 (G-protein coupled receptor 49) (G-protein coupled receptor 67) (G-protein coupled receptor HG38)

Length: 907  Mass: 99,998

Tissue specificity: Expressed in skeletal muscle, placenta, spinal cord, and various region of brain. Expressed at the base of crypts in colonic and small mucosa stem cells. In premalignant cancer expression is not restricted to the cript base. Overexpres

Sequence MDTSRLGVLLSLPVLLQLATGGSSPRSGVLLRGCPTHCHCEPDGRMLLRVDCSDLGLSELPSNLSVFTSYLDLSM
NNISQLLPNPLPSLRFLEELRLAGNALTYIPKGAFTGLYSLKVLMLQNNQLRHVPTEALQNLRSLQSLRLDANHI
SYVPPSCFSGLHSLRHLWLDDNALTEIPVQAFRSLSALQAMTLALNKIHHIPDYAFGNLSSLVVLHLHNNRIHSL
GKKCFDGLHSLETLDLNYNNLDEFPTAIRTLSNLKELGFHSNNIRSIPEKAFVGNPSLITIHFYDNPIQFVGRSA
FQHLPELRTLTLNGASQITEFPDLTGTANLESLTLTGAQISSLPQTVCNQLPNLQVLDLSYNLLEDLPSFSVCQK
LQKIDLRHNEIYEIKVDTFQQLLSLRSLNLAWNKIAIIHPNAFSTLPSLIKLDLSSNLLSSFPITGLHGLTHLKL
TGNHALQSLISSENFPELKVIEMPYAYQCCAFGVCENAYKISNQWNKGDNSSMDDLHKKDAGMFQAQDERDLEDF
LLDFEEDLKALHSVQCSPSPGPFKPCEHLLDGWLIRIGVWTIAVLALTCNALVTSTVFRSPLYISPIKLLIGVIA
AVNMLTGVSSAVLAGVDAFTFGSFARHGAWWENGVGCHVIGFLSIFASESSVFLLTLAALERGFSVKYSAKFETK
APFSSLKVIILLCALLALTMAAVPLLGGSKYGASPLCLPLPFGEPSTMGYMVALILLNSLCFLMMTIAYTKLYCN
LDKGDLENIWDCSMVKHIALLLFTNCILNCPVAFLSFSSLINLTFISPEVIKFILLVVVPLPACLNPLLYILFNP
HFKEDLVSLRKQTYVWTRSKHPSLMSINSDDVEKQSCDSTQALVTFTSSSITYDLPPSSVPSPAYPVTESCHLSS
VAFVPCL
Structural information
Protein Domains
LRRNT. (25-66)
Interpro:  IPR000276 IPR017452 IPR002131 IPR001611 IPR003591 IPR032675 IPR000372
Prosite:   PS50262 PS51450

Pfam:  
PF00560 PF13855 PF01462

PDB:  
4BSR 4BSS 4BST 4BSU 4KNG 4UFR 4UFS
PDBsum:   4BSR 4BSS 4BST 4BSU 4KNG 4UFR 4UFS
STRING:   ENSP00000266674;
Other Databases GeneCards:  LGR5;  Malacards:  LGR5

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0001942 hair follicle development
IEA biological_process
GO:0004888 transmembrane signaling r
eceptor activity
IDA molecular_function
GO:0004888 transmembrane signaling r
eceptor activity
IDA molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005887 integral component of pla
sma membrane
IDA cellular_component
GO:0005887 integral component of pla
sma membrane
IDA cellular_component
GO:0005887 integral component of pla
sma membrane
IDA cellular_component
GO:0007186 G-protein coupled recepto
r signaling pathway
IEA biological_process
GO:0009994 oocyte differentiation
IEA biological_process
GO:0032588 trans-Golgi network membr
ane
IDA cellular_component
GO:0042127 regulation of cell prolif
eration
IEA biological_process
GO:0048839 inner ear development
IEA biological_process
GO:0090263 positive regulation of ca
nonical Wnt signaling pat
hway
IDA biological_process
GO:0090263 positive regulation of ca
nonical Wnt signaling pat
hway
IDA biological_process
GO:2001013 epithelial cell prolifera
tion involved in renal tu
bule morphogenesis
IEA biological_process
GO:0004930 G-protein coupled recepto
r activity
IDA molecular_function
GO:0004930 G-protein coupled recepto
r activity
IDA molecular_function
GO:0001942 hair follicle development
IEA biological_process
GO:0004871 signal transducer activit
y
IEA molecular_function
GO:0004888 transmembrane signaling r
eceptor activity
IEA molecular_function
GO:0004888 transmembrane signaling r
eceptor activity
IDA molecular_function
GO:0004888 transmembrane signaling r
eceptor activity
IDA molecular_function
GO:0004930 G-protein coupled recepto
r activity
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005794 Golgi apparatus
IEA cellular_component
GO:0005794 Golgi apparatus
IEA cellular_component
GO:0005886 plasma membrane
IEA cellular_component
GO:0005886 plasma membrane
IEA cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005887 integral component of pla
sma membrane
IDA cellular_component
GO:0005887 integral component of pla
sma membrane
IDA cellular_component
GO:0005887 integral component of pla
sma membrane
IDA cellular_component
GO:0005887 integral component of pla
sma membrane
TAS cellular_component
GO:0007165 signal transduction
IEA biological_process
GO:0007186 G-protein coupled recepto
r signaling pathway
IEA biological_process
GO:0007186 G-protein coupled recepto
r signaling pathway
IEA biological_process
GO:0007186 G-protein coupled recepto
r signaling pathway
TAS biological_process
GO:0009994 oocyte differentiation
IEA biological_process
GO:0016020 membrane
IEA cellular_component
GO:0016021 integral component of mem
brane
IEA cellular_component
GO:0016021 integral component of mem
brane
IEA cellular_component
GO:0032588 trans-Golgi network membr
ane
IDA cellular_component
GO:0042127 regulation of cell prolif
eration
IEA biological_process
GO:0048839 inner ear development
IEA biological_process
GO:0090263 positive regulation of ca
nonical Wnt signaling pat
hway
IEA biological_process
GO:0090263 positive regulation of ca
nonical Wnt signaling pat
hway
IDA biological_process
GO:0090263 positive regulation of ca
nonical Wnt signaling pat
hway
IDA biological_process
GO:2001013 epithelial cell prolifera
tion involved in renal tu
bule morphogenesis
IEA biological_process
GO:0004930 G-protein coupled recepto
r activity
IDA molecular_function
GO:0004930 G-protein coupled recepto
r activity
IDA molecular_function
GO:0004888 transmembrane signaling r
eceptor activity
IDA molecular_function
GO:0004888 transmembrane signaling r
eceptor activity
IDA molecular_function
GO:0004930 G-protein coupled recepto
r activity
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005887 integral component of pla
sma membrane
IDA cellular_component
GO:0005887 integral component of pla
sma membrane
IDA cellular_component
GO:0005887 integral component of pla
sma membrane
IDA cellular_component
GO:0005887 integral component of pla
sma membrane
TAS cellular_component
GO:0007186 G-protein coupled recepto
r signaling pathway
TAS biological_process
GO:0032588 trans-Golgi network membr
ane
IDA cellular_component
GO:0090263 positive regulation of ca
nonical Wnt signaling pat
hway
IDA biological_process
GO:0090263 positive regulation of ca
nonical Wnt signaling pat
hway
IDA biological_process
GO:0004930 G-protein coupled recepto
r activity
IDA molecular_function
GO:0004930 G-protein coupled recepto
r activity
IDA molecular_function

Diseases

Associated diseases References
Endometriosis INFBASE28923287

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
28923287 Endometrio
sis

51 (12 healthy
women, 39 endom
etrial women)

Show abstract