• Gene id: 8549

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 (71439797: 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 sig
• OMIM: 134935

SNPs

rs4045481

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000004.12   g.1096837G>A
NC_000004.11   g.1090625G>A
NG_027812.2   g.21958C>T
NG_027812.1   g.21728C>T
NM_001131034.4   c.174C>T
NM_001131034.3   c.174C>T
NM_194439.4   c.174C>T
NM_001193318.3   c.174C>T
NM_001193318.2   c.174C>T
NR_159501.1   n.486C>T
NR_159498.1   n.

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: 99998
  • 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: (25..6-)
    (/note="LRRNT"-)
  • Interpro: IPR000276  IPR017452  IPR002131  IPR001611  IPR003591   IPR032675  IPR000372  
  • Prosite: PS50262 PS51450
  • 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 accession	Term name	Evidence code	Go category
GO:0009755	hormone-mediated signaling pathway	IBA	biological process
GO:0007189	adenylate cyclase-activating G protein-coupled receptor signaling pathway	IBA	biological process
GO:0008528	G protein-coupled peptide receptor activity	IBA	molecular function
GO:0007190	activation of adenylate cyclase activity	IBA	biological process
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0032588	trans-Golgi network membrane	IDA	cellular component
GO:0090263	positive regulation of canonical Wnt signaling pathway	IDA	biological process
GO:0090263	positive regulation of canonical Wnt signaling pathway	IDA	biological process
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0004930	G protein-coupled receptor activity	IDA	NOT|molecular function
GO:0004930	G protein-coupled receptor activity	IDA	NOT|molecular function
GO:0004888	transmembrane signaling receptor activity	IDA	molecular function
GO:0004888	transmembrane signaling receptor 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:0016500	protein-hormone receptor activity	IEA	molecular function
GO:0007186	G protein-coupled receptor signaling pathway	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0007165	signal transduction	IEA	biological process
GO:0007186	G protein-coupled receptor signaling pathway	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0004930	G protein-coupled receptor activity	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:2001013	epithelial cell proliferation involved in renal tubule morphogenesis	IEA	biological process
GO:0090263	positive regulation of canonical Wnt signaling pathway	IEA	biological process
GO:0048839	inner ear development	IEA	biological process
GO:0004888	transmembrane signaling receptor activity	IEA	molecular function
GO:0042127	regulation of cell population proliferation	IEA	biological process
GO:0009994	oocyte differentiation	IEA	biological process
GO:0001942	hair follicle development	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04310	Wnt signaling pathway

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq