Lrp4 low density lipoprotein receptor-related protein 4 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Lrp4provided by MGI
Official Full Name: low density lipoprotein receptor-related protein 4provided by MGI
Primary source: MGI:MGI:2442252
See related: Ensembl:ENSMUSG00000027253 AllianceGenome:MGI:2442252
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: mdig; Megf7; D230026E03; 6430526J12Rik
Summary: Enables protein homodimerization activity and receptor tyrosine kinase binding activity. Involved in several processes, including positive regulation of presynaptic membrane organization; positive regulation of skeletal muscle acetylcholine-gated channel clustering; and synapse organization. Acts upstream of or within several processes, including animal organ development; embryonic digit morphogenesis; and regionalization. Located in neuromuscular junction and plasma membrane. Is expressed in several structures, including alimentary system; central nervous system; extraembryonic component; eye; and genitourinary system. Used to study sclerosteosis 2. Human ortholog(s) of this gene implicated in Cenani-Lenz syndactyly syndrome; congenital myasthenic syndrome 17; and sclerosteosis 2. Orthologous to human LRP4 (LDL receptor related protein 4). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in lung adult (RPKM 19.7), genital fat pad adult (RPKM 6.0) and 20 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 E1; 2 50.63 cM

Exon count:: 38

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (91287794..91344246)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (91457456..91513901)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Overexpression of miR-7-5p Promoted Fracture Healing Through Inhibiting LRP4 and Activating Wnt/beta-Catenin Pathway.
Title: Overexpression of miR-7-5p Promoted Fracture Healing Through Inhibiting LRP4 and Activating Wnt/β-Catenin Pathway.
An Additional Lrp4 High Bone Mass Mutation Mitigates the Sost-Knockout Phenotype in Mice by Increasing Bone Remodeling.
Title: An Additional Lrp4 High Bone Mass Mutation Mitigates the Sost-Knockout Phenotype in Mice by Increasing Bone Remodeling.
Periplocin targets low density lipoprotein receptor-related protein 4 to attenuate osteoclastogenesis and protect against osteoporosis.
Title: Periplocin targets low density lipoprotein receptor-related protein 4 to attenuate osteoclastogenesis and protect against osteoporosis.
Intrafusal-fiber LRP4 for muscle spindle formation and maintenance in adult and aged animals.
Title: Intrafusal-fiber LRP4 for muscle spindle formation and maintenance in adult and aged animals.
Increasing LRP4 diminishes neuromuscular deficits in a mouse model of Duchenne muscular dystrophy.
Title: Increasing LRP4 diminishes neuromuscular deficits in a mouse model of Duchenne muscular dystrophy.
Competitive blocking of LRP4-sclerostin binding interface strongly promotes bone anabolic functions.
Title: Competitive blocking of LRP4-sclerostin binding interface strongly promotes bone anabolic functions.
LRP4 LDLalpha repeats of astrocyte enhance dendrite arborization of the neuron.
Title: LRP4 LDLα repeats of astrocyte enhance dendrite arborization of the neuron.
CTGF/CCN2 facilitates LRP4-mediated formation of the embryonic neuromuscular junction.
Title: CTGF/CCN2 facilitates LRP4-mediated formation of the embryonic neuromuscular junction.
A Role of Low-Density Lipoprotein Receptor-Related Protein 4 (LRP4) in Astrocytic Abeta Clearance.
Title: A Role of Low-Density Lipoprotein Receptor-Related Protein 4 (LRP4) in Astrocytic Aβ Clearance.
Together, these observations identify a role of Agrin-Lrp4-Ror2 signaling for adult neurogenesis, uncovering previously unexpected functions of Agrin and Lrp4 in the brain.
Title: Agrin-Lrp4-Ror2 signaling regulates adult hippocampal neurogenesis in mice.

Submit: New GeneRIF Correction See all GeneRIFs (42)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Spontaneous (4) 1 citation
Targeted (9) 1 citation
Chemically induced (ENU) (2) 1 citation
Endonuclease-mediated (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Lrp4 (e-PCR), detects polymorphism
- UniSTS:547850

Lrp4 (e-PCR), detects polymorphism
- UniSTS:528075

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables apolipoprotein binding	ISO Inferred from Sequence Orthology more info
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables coreceptor activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed
enables receptor tyrosine kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables receptor tyrosine kinase binding	ISO Inferred from Sequence Orthology more info
enables scaffold protein binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within Wnt signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in amyloid-beta clearance by cellular catabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within anatomical structure development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in dendrite morphogenesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within dorsal/ventral pattern formation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic digit morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic limb morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within endocytosis	IEA Inferred from Electronic Annotation more info
involved_in enzyme-linked receptor protein signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in enzyme-linked receptor protein signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
involved_in enzyme-linked receptor protein signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in generation of neurons	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within hair follicle development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within kidney development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in kidney development	ISO Inferred from Sequence Orthology more info
involved_in limb development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within multicellular organism development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of axonogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of canonical Wnt signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within negative regulation of canonical Wnt signaling pathway	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within negative regulation of canonical Wnt signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of canonical Wnt signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of ossification	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within odontogenesis of dentin-containing tooth	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of Rac protein signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of peptidyl-tyrosine phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of presynaptic membrane organization	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of skeletal muscle acetylcholine-gated channel clustering	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of skeletal muscle acetylcholine-gated channel clustering	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of skeletal muscle acetylcholine-gated channel clustering	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in postsynaptic membrane assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in presynaptic membrane assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein localization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within proximal/distal pattern formation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within receptor clustering	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of postsynapse assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of postsynapse assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of protein phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in skeletal muscle acetylcholine-gated channel clustering	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in synapse organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in synapse organization	ISO Inferred from Sequence Orthology more info
involved_in synaptic assembly at neuromuscular junction	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within synaptic assembly at neuromuscular junction	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cell surface	ISO Inferred from Sequence Orthology more info
located_in dendrite	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in neuromuscular junction	IC Inferred by Curator more info	PubMed
located_in neuromuscular junction	IDA Inferred from Direct Assay more info	PubMed
located_in neuronal cell body	ISO Inferred from Sequence Orthology more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane raft	ISO Inferred from Sequence Orthology more info
located_in postsynaptic density	ISO Inferred from Sequence Orthology more info
is_active_in synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in synapse	IEP Inferred from Expression Pattern more info	PubMed
located_in synaptic membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: low-density lipoprotein receptor-related protein 4

Names: LDLR dan; LRP-4

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001145857.1 → NP_001139329.1 low-density lipoprotein receptor-related protein 4 isoform 2 precursor

See identical proteins and their annotated locations for NP_001139329.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.

Source sequence(s)

AK032360, BC132240, BY753111

UniProtKB/Swiss-Prot

Q8VI56

Related

ENSMUST00000143874.8

Conserved Domains (5) summary

smart00135
Location:460 → 502

LY; Low-density lipoprotein-receptor YWTD domain

cd00112
Location:270 → 304

LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...

pfam00057
Location:70 → 105

Ldl_recept_a; Low-density lipoprotein receptor domain class A

pfam14670
Location:358 → 393

FXa_inhibition; Coagulation Factor Xa inhibitory site

cl00057
Location:390 → 432

vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
NM_172668.3 → NP_766256.3 low-density lipoprotein receptor-related protein 4 isoform 1 precursor

See identical proteins and their annotated locations for NP_766256.3

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AF247637, AL691489, BC132240, BY753111, CN533524

Consensus CDS

CCDS16432.1

UniProtKB/Swiss-Prot

A2AGT4, Q8BPX5, Q8CBB3, Q8CCP5, Q8VI56

Related

ENSMUSP00000028689.4, ENSMUST00000028689.4

Conserved Domains (9) summary

smart00192
Location:311 → 343

LDLa; Low-density lipoprotein receptor domain class A

smart00135
Location:505 → 545

LY; Low-density lipoprotein-receptor YWTD domain

smart00179
Location:395 → 434

EGF_CA; Calcium-binding EGF-like domain

cd00112
Location:270 → 304

LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...

cd05819
Location:1085 → 1123

NHL; NHL repeat [structural motif]

pfam00057
Location:70 → 105

Ldl_recept_a; Low-density lipoprotein receptor domain class A

pfam00058
Location:1483 → 1523

Ldl_recept_b; Low-density lipoprotein receptor repeat class B

pfam14670
Location:1313 → 1348

FXa_inhibition; Coagulation Factor Xa inhibitory site

cl18310
Location:1085 → 1277

NHL; NHL repeat unit of beta-propeller proteins

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000068.8 Reference GRCm39 C57BL/6J

Range

91287794..91344246

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036161269.1 → XP_036017162.1 low-density lipoprotein receptor-related protein 4 isoform X1

Conserved Domains (5) summary

smart00135
Location:59 → 101

LY; Low-density lipoprotein-receptor YWTD domain

cd05819
Location:336 → 374

NHL; NHL repeat [structural motif]

cl18310
Location:336 → 528

NHL; NHL repeat unit of beta-propeller proteins

pfam00058
Location:430 → 470

Ldl_recept_b; Low-density lipoprotein receptor repeat class B

pfam14670
Location:564 → 599

FXa_inhibition; Coagulation Factor Xa inhibitory site