• Gene id: 4038

Gene Summary

• Gene Symbol: LRP4   Gene   UCSC   Ensembl
• Aliases: CLSS, CMS17, LRP-4, LRP10, MEGF7, SOST2
• Gene name: LDL receptor related protein 4
• Alternate names: low-density lipoprotein receptor-related protein 4, multiple epidermal growth factor-like domains 7,
• Gene location: 11p11.2 (46918549: 46854714)     Exons: 41     NC_000011.10
• Gene summary(Entrez): This gene encodes a member of the low-density lipoprotein receptor-related protein family. The encoded protein may be a regulator of Wnt signaling. Mutations in this gene are associated with Cenani-Lenz syndrome. [provided by RefSeq, May 2010]
• OMIM: 600979

Protein Summary

• Protein general information: O75096  
  • Name: Low density lipoprotein receptor related protein 4 (LRP 4) (Multiple epidermal growth factor like domains 7)
  • Length: 1905  
  • Mass: 212045
  • Tissue specificity: Expressed in bone; present in osteoblasts and osteocytes. No expression is observed in osteoclast. Expressed in several regions of the brain. {ECO
• Sequence:

  MRRQWGALLLGALLCAHGLASSPECACGRSHFTCAVSALGECTCIPAQWQCDGDNDCGDHSDEDGCILPTCSPLD
  FHCDNGKCIRRSWVCDGDNDCEDDSDEQDCPPRECEEDEFPCQNGYCIRSLWHCDGDNDCGDNSDEQCDMRKCSD
  KEFRCSDGSCIAEHWYCDGDTDCKDGSDEENCPSAVPAPPCNLEEFQCAYGRCILDIYHCDGDDDCGDWSDESDC
  SSHQPCRSGEFMCDSGLCINAGWRCDGDADCDDQSDERNCTTSMCTAEQFRCHSGRCVRLSWRCDGEDDCADNSD
  EENCENTGSPQCALDQFLCWNGRCIGQRKLCNGVNDCGDNSDESPQQNCRPRTGEENCNVNNGGCAQKCQMVRGA
  VQCTCHTGYRLTEDGHTCQDVNECAEEGYCSQGCTNSEGAFQCWCETGYELRPDRRSCKALGPEPVLLFANRIDI
  RQVLPHRSEYTLLLNNLENAIALDFHHRRELVFWSDVTLDRILRANLNGSNVEEVVSTGLESPGGLAVDWVHDKL
  YWTDSGTSRIEVANLDGAHRKVLLWQNLEKPRAIALHPMEGTIYWTDWGNTPRIEASSMDGSGRRIIADTHLFWP
  NGLTIDYAGRRMYWVDAKHHVIERANLDGSHRKAVISQGLPHPFAITVFEDSLYWTDWHTKSINSANKFTGKNQE
  IIRNKLHFPMDIHTLHPQRQPAGKNRCGDNNGGCTHLCLPSGQNYTCACPTGFRKISSHACAQSLDKFLLFARRM
  DIRRISFDTEDLSDDVIPLADVRSAVALDWDSRDDHVYWTDVSTDTISRAKWDGTGQEVVVDTSLESPAGLAIDW
  VTNKLYWTDAGTDRIEVANTDGSMRTVLIWENLDRPRDIVVEPMGGYMYWTDWGASPKIERAGMDASGRQVIISS
  NLTWPNGLAIDYGSQRLYWADAGMKTIEFAGLDGSKRKVLIGSQLPHPFGLTLYGERIYWTDWQTKSIQSADRLT
  GLDRETLQENLENLMDIHVFHRRRPPVSTPCAMENGGCSHLCLRSPNPSGFSCTCPTGINLLSDGKTCSPGMNSF
  LIFARRIDIRMVSLDIPYFADVVVPINITMKNTIAIGVDPQEGKVYWSDSTLHRISRANLDGSQHEDIITTGLQT
  TDGLAVDAIGRKVYWTDTGTNRIEVGNLDGSMRKVLVWQNLDSPRAIVLYHEMGFMYWTDWGENAKLERSGMDGS
  DRAVLINNNLGWPNGLTVDKASSQLLWADAHTERIEAADLNGANRHTLVSPVQHPYGLTLLDSYIYWTDWQTRSI
  HRADKGTGSNVILVRSNLPGLMDMQAVDRAQPLGFNKCGSRNGGCSHLCLPRPSGFSCACPTGIQLKGDGKTCDP
  SPETYLLFSSRGSIRRISLDTSDHTDVHVPVPELNNVISLDYDSVDGKVYYTDVFLDVIRRADLNGSNMETVIGR
  GLKTTDGLAVDWVARNLYWTDTGRNTIEASRLDGSCRKVLINNSLDEPRAIAVFPRKGYLFWTDWGHIAKIERAN
  LDGSERKVLINTDLGWPNGLTLDYDTRRIYWVDAHLDRIESADLNGKLRQVLVSHVSHPFALTQQDRWIYWTDWQ
  TKSIQRVDKYSGRNKETVLANVEGLMDIIVVSPQRQTGTNACGVNNGGCTHLCFARASDFVCACPDEPDSRPCSL
  VPGLVPPAPRATGMSEKSPVLPNTPPTTLYSSTTRTRTSLEEVEGRCSERDARLGLCARSNDAVPAAPGEGLHIS
  YAIGGLLSILLILVVIAALMLYRHKKSKFTDPGMGNLTYSNPSYRTSTQEVKIEAIPKPAMYNQLCYKKEGGPDH
  NYTKEKIKIVEGICLLSGDDAEWDDLKQLRSSRGGLLRDHVCMKTDTVSIQASSGSLDDTETEQLLQEEQSECSS
  VHTAATPERRGSLPDTGWKHERKLSSESQV

• Structural information:
  • Protein Domains: (26..6-)
    A (/note="LDL-receptor-class)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00124-)
    (70..10-)
    A (/note="LDL-receptor-class)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00124-)
    (109..14-)
    A (/note="LDL-receptor-class)
    (/evid-)
  • Interpro: IPR011042  IPR026823  IPR001881  IPR013032  IPR000742   IPR000152  IPR018097  IPR009030  IPR036055  IPR023415  IPR000033  IPR002172  
  • Prosite: PS00010 PS01186 PS01187 PS01209 PS50068 PS51120
  • CDD: cd00112
  • STRING: ENSP00000367888
• Other Databases: GeneCards:  LRP4  Malacards:  LRP4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0150094	amyloid-beta clearance by cellular catabolic process	IMP	biological process
GO:0030279	negative regulation of ossification	IMP	biological process
GO:0005886	plasma membrane	ISS	cellular component
GO:0090090	negative regulation of canonical Wnt signaling pathway	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0016055	Wnt signaling pathway	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006897	endocytosis	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0051124	synaptic growth at neuromuscular junction	IEA	biological process
GO:0050771	negative regulation of axonogenesis	IEA	biological process
GO:0050731	positive regulation of peptidyl-tyrosine phosphorylation	IEA	biological process
GO:0042803	protein homodimerization activity	IEA	molecular function
GO:0030326	embryonic limb morphogenesis	IEA	biological process
GO:0016055	Wnt signaling pathway	IEA	biological process
GO:0009953	dorsal/ventral pattern formation	IEA	biological process
GO:0001942	hair follicle development	IEA	biological process
GO:0001822	kidney development	IEA	biological process
GO:0050808	synapse organization	IEA	biological process
GO:0048813	dendrite morphogenesis	IEA	biological process
GO:0034185	apolipoprotein binding	IEA	molecular function
GO:0030425	dendrite	IEA	cellular component
GO:1904395	positive regulation of skeletal muscle acetylcholine-gated channel clustering	IEA	biological process
GO:1901631	positive regulation of presynaptic membrane organization	IEA	biological process
GO:0097105	presynaptic membrane assembly	IEA	biological process
GO:0097104	postsynaptic membrane assembly	IEA	biological process
GO:0090090	negative regulation of canonical Wnt signaling pathway	IEA	biological process
GO:0071340	skeletal muscle acetylcholine-gated channel clustering	IEA	biological process
GO:0048856	anatomical structure development	IEA	biological process
GO:0043113	receptor clustering	IEA	biological process
GO:0042733	embryonic digit morphogenesis	IEA	biological process
GO:0042475	odontogenesis of dentin-containing tooth	IEA	biological process
GO:0031594	neuromuscular junction	IEA	cellular component
GO:0030971	receptor tyrosine kinase binding	IEA	molecular function
GO:0009954	proximal/distal pattern formation	IEA	biological process
GO:0008104	protein localization	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0001932	regulation of protein phosphorylation	IEA	biological process
GO:0097110	scaffold protein binding	IEA	molecular function
GO:0097060	synaptic membrane	IEA	cellular component
GO:0044853	plasma membrane raft	IEA	cellular component
GO:0043025	neuronal cell body	IEA	cellular component
GO:0030971	receptor tyrosine kinase binding	IEA	molecular function
GO:0014069	postsynaptic density	IEA	cellular component
GO:0009986	cell surface	IEA	cellular component
GO:0090090	negative regulation of canonical Wnt signaling pathway	IDA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0001822	kidney development	IDA	biological process
GO:0060173	limb development	IDA	biological process
GO:0009986	cell surface	IDA	cellular component
GO:0050808	synapse organization	ISS	biological process
GO:0050771	negative regulation of axonogenesis	ISS	biological process
GO:0030425	dendrite	ISS	cellular component
GO:0097110	scaffold protein binding	ISS	molecular function
GO:0097105	presynaptic membrane assembly	ISS	biological process
GO:0009986	cell surface	ISS	cellular component
GO:0051124	synaptic growth at neuromuscular junction	ISS	biological process
GO:0048813	dendrite morphogenesis	ISS	biological process
GO:1901631	positive regulation of presynaptic membrane organization	ISS	biological process
GO:0097104	postsynaptic membrane assembly	ISS	biological process
GO:0097060	synaptic membrane	ISS	cellular component
GO:0071340	skeletal muscle acetylcholine-gated channel clustering	ISS	biological process
GO:0043025	neuronal cell body	ISS	cellular component
GO:0031594	neuromuscular junction	ISS	cellular component
GO:0030971	receptor tyrosine kinase binding	ISS	molecular function
GO:0044853	plasma membrane raft	ISS	cellular component
GO:0014069	postsynaptic density	ISS	cellular component
GO:0090090	negative regulation of canonical Wnt signaling pathway	IMP	biological process

Diseases

Associated diseases	References
Congenital myasthenic syndrome	KEGG:H00770
Sclerosteosis	KEGG:H00486
Cenani-Lenz syndactyly syndrome	KEGG:H00853
Congenital myasthenic syndrome	KEGG:H00770
Sclerosteosis	KEGG:H00486
Cenani-Lenz syndactyly syndrome	KEGG:H00853
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq