LRP12 LDL receptor related protein 12 [Homo sapiens (human)] - Gene

Summary

Official Symbol: LRP12provided by HGNC
Official Full Name: LDL receptor related protein 12provided by HGNC
Primary source: HGNC:HGNC:31708
See related: Ensembl:ENSG00000147650 MIM:618299; AllianceGenome:HGNC:31708
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ST7; ALS28; MIG13A
Summary: This gene encodes a member of the low-density lipoprotein receptor related protein family. The product of this gene is a transmembrane protein that is differentially expressed in many cancer cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]
Expression: Ubiquitous expression in endometrium (RPKM 9.3), brain (RPKM 7.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8q22.3

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (104489236..104589258, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (105616734..105716700, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (105501464..105601486, complement)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

LRP12 is an endogenous transmembrane inactivator of alpha4 integrins.
Title: LRP12 is an endogenous transmembrane inactivator of α4 integrins.
CGG repeat expansion in LRP12 in amyotrophic lateral sclerosis.
Title: CGG repeat expansion in LRP12 in amyotrophic lateral sclerosis.
Oculopharyngodistal myopathy with coexisting histology of systemic neuronal intranuclear inclusion disease: Clinicopathologic features of an autopsied patient harboring CGG repeat expansions in LRP12.
Title: Oculopharyngodistal myopathy with coexisting histology of systemic neuronal intranuclear inclusion disease: Clinicopathologic features of an autopsied patient harboring CGG repeat expansions in LRP12.
GGC repeat expansions in LRP12 gene is associated with oculopharyngodistal myopathy.
Title: Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease.
LRP12 DNA methylation as a powerful predictive marker for carboplatin resistance.
Title: Epigenomic profiling of non-small cell lung cancer xenografts uncover LRP12 DNA methylation as predictive biomarker for carboplatin resistance.
Accumulation of functional promoter-associated allelic variants with impact on the transcriptional regulation of LRP12 provides a new pathomechanism for GGs, i.e. highly differentiated epileptogenic brain tumors
Title: Abundance of LRP12 C-rs9694676 allelic promoter variant in epilepsy-associated gangliogliomas.
Results indicate that low-density lipoprotein receptor-related protein 12 silencing during brain development results in cortical dyslamination and seizure sensitization.
Title: LRP12 silencing during brain development results in cortical dyslamination and seizure sensitization.
As the preplate separates, Lrp12/Mig13a-positive neurons polarize in the radial plane and form a pseudocolumnar pattern, prior to moving to a deeper position within the emerging subplate layer.
Title: Lrp12/Mig13a reveals changing patterns of preplate neuronal polarity during corticogenesis that are absent in reeler mutant mice.
ST7 is a novel low-density lipoprotein receptor-related protein (LRP) with a cytoplasmic tail that interacts with proteins related to signal transduction pathways.
Title: ST7 is a novel low-density lipoprotein receptor-related protein (LRP) with a cytoplasmic tail that interacts with proteins related to signal transduction pathways.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Amyotrophic lateral sclerosis 28 MedGen: C5830642 OMIM: 620452 GeneReviews: Not available	not available
Oculopharyngodistal myopathy 1 MedGen: C5231388 OMIM: 164310 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Common variants at 9p21 and 8q22 are associated with increased susceptibility to optic nerve degeneration in glaucoma. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of chronic periodontitis in a general German population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of cis- and trans-acting genetic variants explaining up to half the variation in circulating vascular endothelial growth factor levels. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D8S2279 (e-PCR)
- UniSTS:473907

RH91323 (e-PCR)
- UniSTS:91724

D10S16 (e-PCR)
- UniSTS:155756

RH120328 (e-PCR)
- UniSTS:132468

RH36905 (e-PCR)
- UniSTS:87932

G32152 (e-PCR)
- UniSTS:38375

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables low-density lipoprotein particle receptor activity	NAS Non-traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in endocytosis	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within neuron migration	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within neuron projection development	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of growth	NAS Non-traceable Author Statement more info	PubMed
involved_in signal transduction	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in clathrin-coated pit	IEA Inferred from Electronic Annotation more info
located_in membrane	NAS Non-traceable Author Statement more info	PubMed
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

General protein information

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Preferred Names: low-density lipoprotein receptor-related protein 12

Names: LDLR-related protein 12; suppressor of tumorigenicity 7 protein

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_001135703.3 → NP_001129175.1 low-density lipoprotein receptor-related protein 12 isoform b precursor

See identical proteins and their annotated locations for NP_001129175.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, compared to variant 1. The resulting isoform (b) is shorter than isoform a.

Source sequence(s)

AB208957, AC090827, AI828757, AK299374, DC372924

Consensus CDS

CCDS47907.1

UniProtKB/TrEMBL

Q59H02

Related

ENSP00000399148.2, ENST00000424843.6

Conserved Domains (2) summary

cd00041
Location:28 → 139

CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.

cd00112
Location:432 → 466

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 ...
NM_013437.5 → NP_038465.1 low-density lipoprotein receptor-related protein 12 isoform a precursor

See identical proteins and their annotated locations for NP_038465.1

Status: REVIEWED

Description

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

Source sequence(s)

AB208957, AC090827, AI828757, BC032109, DC372924

Consensus CDS

CCDS6303.1

UniProtKB/Swiss-Prot

A8K137, B4DRQ2, Q9Y561

UniProtKB/TrEMBL

Q59H02

Related

ENSP00000276654.5, ENST00000276654.10

Conserved Domains (2) summary

cd00041
Location:47 → 158

CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.

cd00112
Location:451 → 485

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 ...