LGR4
entrez
55366
canonical
uniprot
Q9BXB1
canonical
ensembl
ENSG00000205213
resolver
ensp
ENSP00000368516
resolver
ensp
ENSP00000374508
resolver
genesymbol
LGR4
resolver
genesymbol_syn
GPR48
resolver
hgnc
HGNC:13299
resolver
uniprot
A6NCH3
resolver
uniprot
G5E9B3
resolver
uniprot
Q59ER8
resolver
uniprot
Q8N537
resolver
uniprot
Q9NYD1
resolver
uniprot_entry
LGR4_HUMAN
resolver
uniprot_entry
Q59ER8_HUMAN
resolver
uniprot_sec
A6NCH3
resolver
uniprot_sec
G5E9B3
resolver
uniprot_sec
Q8N537
resolver
uniprot_sec
Q9NYD1
resolver
amino_acid_sequence
MPGPLGLLCFLALGLLGSAGPSGAAPPLCAAPCSCDGDRRVDCSGKGLTAVPEGLSAFTQALDISMNNITQLPEDAFKNFPFLEELQLAGNDLSFIHPKALSGLKELKVLTLQNNQLKTVPSEAIRGLSALQSLRLDANHITSVPEDSFEGLVQLRHLWLDDNSLTEVPVHPLSNLPTLQALTLALNKISSIPDFAFTNLSSLVVLHLHNNKIRSLSQHCFDGLDNLETLDLNYNNLGEFPQAIKALPSLKELGFHSNSISVIPDGAFDGNPLLRTIHLYDNPLSFVGNSAFHNLSDLHSLVIRGASMVQQFPNLTGTVHLESLTLTGTKISSIPNNLCQEQKMLRTLDLSYNNIRDLPSFNGCHALEEISLQRNQIYQIKEGTFQGLISLRILDLSRNLIHEIHSRAFATLGPITNLDVSFNELTSFPTEGLNGLNQLKLVGNFKLKEALAAKDFVNLRSLSVPYAYQCCAFWGCDSYANLNTEDNSLQDHSVAQEKGTADAANVTSTLENEEHSQIIIHCTPSTGAFKPCEYLLGSWMIRLTVWFIFLVALFFNLLVILTTFASCTSLPSSKLFIGLISVSNLFMGIYTGILTFLDAVSWGRFAEFGIWWETGSGCKVAGFLAVFSSESAIFLLMLATVERSLSAKDIMKNGKSNHLKQFRVAALLAFLGATVAGCFPLFHRGEYSASPLCLPFPTGETPSLGFTVTLVLLNSLAFLLMAVIYTKLYCNLEKEDLSENSQSSMIKHVAWLIFTNCIFFCPVAFFSFAPLITAISISPEIMKSVTLIFFPLPACLNPVLYVFFNPKFKEDWKLLKRRVTKKSGSVSVSISSQGGCLEQDFYYDCGMYSHLQGNLTVCDCCESFLLTKPVSCKHLIKSHSCPALAVASCQRPEGYWSDCGTQSAHSDYADEEDSFVSDSSDQVQACGRACFYQSRGFPLVRYAYNLPRVKD
uniprot
proteins
disease_involvement
DISEASE: Osteoporosis (OSTEOP) [MIM:166710]: A systemic skeletal disorder characterized by decreased bone mass and deterioration of bone microarchitecture without alteration in the composition of bone. The result is fragile bones and an increased risk of fractures, even after minimal trauma. Osteoporosis is a chronic condition of multifactorial etiology and is usually clinically silent until a fracture occurs. {ECO:0000269|PubMed:23644456}. Note=Disease susceptibility may be associated with variants affecting the gene represented in this entry. A LGR4 nonsense mutation creating a stop codon after position 126 (c.376C>T) is strongly associated with low bone mineral density and osteoporotic fractures (PubMed:23644456). This mutation probably causes degradation of the transcript by nonsense-mediated decay (NMD). The c.376C>T mutation is also associated with electrolyte imbalance, late onset of menarche and reduced testosterone levels, as well as an increased risk of squamous cell carcinoma of the skin and biliary tract cancer (PubMed:23644456). {ECO:0000269|PubMed:23644456}.; DISEASE: Delayed puberty, self-limited (DPSL) [MIM:619613]: A condition defined as the absence of testicular enlargement in boys or breast development in girls at an age that is 2-2.5 SD later than the population mean. DPSL is often familial and is highly heritable, most commonly seen with an autosomal dominant inheritance pattern. {ECO:0000269|PubMed:32493844}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Receptor for R-spondins that potentiates the canonical Wnt signaling pathway and is involved in the formation of various organs. Upon binding to R-spondins (RSPO1, RSPO2, RSPO3 or RSPO4), associates with phosphorylated LRP6 and frizzled receptors that are activated by extracellular Wnt receptors, triggering the canonical Wnt signaling pathway to increase expression of target genes. In contrast to classical G protein-coupled receptors, does not activate heterotrimeric G proteins to transduce the signal. Its function as activator of the Wnt signaling pathway is required for the development of various organs, including liver, kidney, intestine, bone, reproductive tract and eye. May also act as a receptor for norrin (NDP), such results however require additional confirmation in vivo. Required during spermatogenesis to activate the Wnt signaling pathway in peritubular myoid cells. Required for the maintenance of intestinal stem cells and Paneth cell differentiation in postnatal intestinal crypts. Acts as a regulator of bone formation and remodeling. Involved in kidney development; required for maintaining the ureteric bud in an undifferentiated state. Involved in the development of the anterior segment of the eye. Required during erythropoiesis. Also acts as a negative regulator of innate immunity by inhibiting TLR2/TLR4 associated pattern-recognition and pro-inflammatory cytokine production. Plays an important role in regulating the circadian rhythms of plasma lipids, partially through regulating the rhythmic expression of MTTP (By similarity). Required for proper development of GnRH neurons (gonadotropin-releasing hormone expressing neurons) that control the release of reproductive hormones from the pituitary gland (By similarity). {ECO:0000250|UniProtKB:A2ARI4, ECO:0000269|PubMed:21693646, ECO:0000269|PubMed:21727895, ECO:0000269|PubMed:21909076, ECO:0000269|PubMed:22815884, ECO:0000269|PubMed:23444378, ECO:0000269|PubMed:23756652}.
uniprot
proteins
mass_dalton
104475
uniprot
proteins
protein_family
G protein-coupled receptor 1 family
uniprot
proteins
pubmed
11401528
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
21693646
uniprot
proteins
pubmed
21727895
uniprot
proteins
pubmed
21909076
uniprot
proteins
pubmed
22815884
uniprot
proteins
pubmed
23444378
uniprot
proteins
pubmed
23644456
uniprot
proteins
pubmed
23756652
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
32493844
uniprot
proteins
sequence_length
951
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:21693646, ECO:0000269|PubMed:22815884}; Multi-pass membrane protein {ECO:0000269|PubMed:21693646, ECO:0000269|PubMed:22815884}.
uniprot
proteins
transmembrane_region
TRANSMEM 545..565; /note="Helical; Name=1"; /evidence="ECO:0000255"; TRANSMEM 576..596; /note="Helical; Name=2"; /evidence="ECO:0000255"; TRANSMEM 621..641; /note="Helical; Name=3"; /evidence="ECO:0000255"; TRANSMEM 662..682; /note="Helical; Name=4"; /evidence="ECO:0000255"; TRANSMEM 704..724; /note="Helical; Name=5"; /evidence="ECO:0000255"; TRANSMEM 757..777; /note="Helical; Name=6"; /evidence="ECO:0000255"; TRANSMEM 784..804; /note="Helical; Name=7"; /evidence="ECO:0000255
uniprot
proteins