Low Density Lipoprotein Receptor-Related Protein 2

Alternative Names

  • LRP2
  • Glycoprotein 330
  • Megalin

Associated Diseases

Donnai-Barrow Syndrome
Back to search Result
OMIM Number

600073

NCBI Gene ID

4036

Uniprot ID

P98164

Length

235,505 bases

No. of Exons

80

No. of isoforms

1

Protein Name

Low-density lipoprotein receptor-related protein 2

Molecular Mass

521,958 Da

Amino Acid Count

4655

Genomic Location

chr2:169,127,109-169,362,613

Gene Map Locus
2q31.1

Description

LPR2 gene encodes lipoprotein receptor-related protein-2 (LRP2), which is a member of a family of receptors with structural similarities to the low density lipoprotein receptor (LDLR). LRP2 is a multiligand endocytic receptor for numerous ligands, including lipoproteins, sterols, vitamin-binding proteins and hormones. It regulates the levels of these circulating compounds and participates with other proteins in a wide range of physiological processes, including the regulation of lipid metabolism, transport of nutrients, and vitamins. LRP2 also has a role in cell signaling by interacting with sonic hedgehog.

Mutations in the LPR2 gene are associated with Donnai-Barrow syndrome.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_004525.3:c.7564T>CUnited Arab Emirates; ...NC_000002.12:g.169205630A>GLikely PathogenicPathogenicDonnai-Barrow SyndromeNG_012634.1:g.161983T>C; NM_004525.3:c.7564T>C; NP_004516.2:p.Tyr2522His803387479450
NM_004525.3:c.9358_9359delQatarchr2:169185989-169185990PathogenicPathogenicDonnai-Barrow SyndromeNG_012634.1:g.181623_181624del; NM_004525.3:c.9358_9359del; NP_004516.2:p.Ser3120fs8033875021421
© CAGS 2024. All rights reserved.