Gene

lrp2a

ID

ZDB-GENE-050119-2

Name

low density lipoprotein receptor-related protein 2a

Symbol

lrp2a Nomenclature History

Previous Names

lrp2 (1)
gp330b
im:680590
megalin (1)

Type

protein_coding_gene

Location

Chr: 9 Mapping Details/Browsers

Description

Is predicted to enable hormone binding activity. Acts upstream of or within receptor-mediated endocytosis and renal absorption. Predicted to be located in membrane. Predicted to be integral component of membrane. Predicted to be part of receptor complex. Is expressed in several structures, including gut epithelium; nervous system; otic vesicle; pronephros; and radial glial cell. Used to study myopia. Human ortholog(s) of this gene implicated in Donnai-Barrow syndrome and autoimmune thyroiditis. Orthologous to human LRP2 (LDL receptor related protein 2).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

21 figures from 9 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 27 figures from 9 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With lrp2a Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
Donnai-Barrow syndrome	Alliance	Donnai-Barrow syndrome	222448

Associated With lrp2a Via Experimental Models

Human Disease	Fish	Conditions	Citations
myopia	lrp2a^mw90/mw90	standard conditions	Collery et al., 2019

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Conserved_site	IPR018097	EGF-like calcium-binding, conserved site
Conserved_site	IPR023415	Low-density lipoprotein (LDL) receptor class A, conserved site
Domain	IPR000742	EGF-like domain
Domain	IPR001881	EGF-like calcium-binding domain
Domain	IPR026823	Complement Clr-like EGF domain
Domain	IPR032485	Domain of unknown function DUF5050
Homologous_superfamily	IPR009030	Growth factor receptor cysteine-rich domain superfamily
Homologous_superfamily	IPR011042	Six-bladed beta-propeller, TolB-like
Homologous_superfamily	IPR036055	LDL receptor-like superfamily
PTM	IPR000152	EGF-type aspartate/asparagine hydroxylation site
Repeat	IPR000033	LDLR class B repeat
Repeat	IPR002172	Low-density lipoprotein (LDL) receptor class A repeat