lrp12

ID

ZDB-GENE-060503-399

Name

low density lipoprotein receptor-related protein 12

Symbol

lrp12 Nomenclature History

Previous Names

si:ch211-204a13.4
wu:fc44e04

Type

protein_coding_gene

Location

Chr: 19 Mapping Details/Browsers

Genome Assembly

GRCz12tu

Annotation Status

Current

Description

Predicted to be located in clathrin-coated pit. Predicted to be active in plasma membrane. Human ortholog(s) of this gene implicated in amyotrophic lateral sclerosis type 28 and oculopharyngodistal myopathy 1. Orthologous to human LRP12 (LDL receptor related protein 12).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

No data available

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: No data available
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With lrp12 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
amyotrophic lateral sclerosis type 28	Alliance	Amyotrophic lateral sclerosis 28	620452
oculopharyngodistal myopathy 1	Alliance	Oculopharyngodistal myopathy 1	164310

Associated With lrp12 Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Conserved_site	IPR023415	Low-density lipoprotein (LDL) receptor class A, conserved site
Domain	IPR000859	CUB domain
Homologous_superfamily	IPR035914	Spermadhesin, CUB domain superfamily
Homologous_superfamily	IPR036055	LDL receptor-like superfamily
Repeat	IPR002172	Low-density lipoprotein (LDL) receptor class A repeat