InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: LRP2

Summary

InnateDB Protein

IDBP-74422.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

LRP2

Protein Name

low density lipoprotein receptor-related protein 2

Synonyms

DBS; GP330;

Species

Homo sapiens

Ensembl Protein

ENSP00000263816

InnateDB Gene

IDBG-74420 (LRP2)

Protein Structure

UniProt Annotation

Function

Acts together with cubilin to mediate HDL endocytosis (By similarity). May participate in regulation of parathyroid- hormone and para-thyroid-hormone-related protein release. {ECO:0000250}.

Subcellular Localization

Membrane; Single-pass type I membrane protein. Membrane, coated pit.

Disease Associations

Donnai-Barrow syndrome (DBS) [MIM:222448]: Rare autosomal recessive disorder characterized by major malformations including agenesis of the corpus callosum, congenital diaphragmatic hernia, facial dysmorphology, ocular anomalies, sensorineural hearing loss and developmental delay. The FOAR syndrome was first described as comprising facial anomalies, ocular anomalies, sensorineural hearing loss, and proteinuria. DBS and FOAR were first described as distinct disorders but the classic distinguishing features between the 2 disorders were presence of proteinuria and absence of diaphragmatic hernia and corpus callosum anomalies in FOAR. Early reports noted that the 2 disorders shared many phenotypic features and may be identical. Although there is variability in the expression of some features (e.g., agenesis of the corpus callosum and proteinuria), DBS and FOAR are now considered to represent the same entity. {ECO:0000269PubMed:17632512}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Absorptive epithelia, including renal proximal tubules.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 47 experimentally validated interaction(s) in this database.
They are also associated with 7 interaction(s) predicted by orthology.

Experimentally validated
Total	47 [view]
Protein-Protein	46 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	7 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005509	calcium ion binding
GO:0005515	protein binding
GO:0017124	SH3 domain binding

Biological Process

GO:0001523	retinoid metabolic process
GO:0006486	protein glycosylation
GO:0006629	lipid metabolic process
GO:0006766	vitamin metabolic process
GO:0006897	endocytosis
GO:0006898	receptor-mediated endocytosis
GO:0007603	phototransduction, visible light
GO:0008202	steroid metabolic process
GO:0008283	cell proliferation
GO:0030900	forebrain development
GO:0042359	vitamin D metabolic process
GO:0044281	small molecule metabolic process

Cellular Component

GO:0005764	lysosome
GO:0005765	lysosomal membrane
GO:0005768	endosome
GO:0005783	endoplasmic reticulum
GO:0005794	Golgi apparatus
GO:0005886	plasma membrane
GO:0005903	brush border
GO:0005905	coated pit
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0016324	apical plasma membrane
GO:0030139	endocytic vesicle
GO:0031526	brush border membrane
GO:0043235	receptor complex
GO:0045177	apical part of cell
GO:0070062	extracellular vesicular exosome

Protein Structure and Domains

PDB ID

InterPro

IPR000033 LDLR class B repeat
IPR000742 Epidermal growth factor-like domain
IPR001881 EGF-like calcium-binding domain
IPR002172 Low-density lipoprotein (LDL) receptor class A repeat
IPR002919 Trypsin Inhibitor-like, cysteine rich domain
IPR009030 Insulin-like growth factor binding protein, N-terminal

PFAM

PF00058
PF00008
PF07645
PF00057
PF01826

PRINTS

PR00261

PIRSF

SMART

SM00135
SM00181
SM00179
SM00192

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt