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

Gene ID: 29967, updated on 10-Dec-2019

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
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; 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

Genomic context

See LRP12 in Genome Data Viewer
Location:
8q22.3
Exon count:
7
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (104489231..104589024, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (105501459..105601252, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene dihydropyrimidinase Neighboring gene uncharacterized LOC105375691 Neighboring gene microRNA 548a-3 Neighboring gene NADH:ubiquinone oxidoreductase subunit A5 pseudogene 2 Neighboring gene uncharacterized LOC105375694 Neighboring gene uncharacterized LOC105375693 Neighboring gene ribosomal protein L23 pseudogene 9

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Oculopharyngodistal myopathy
MedGen: C1834014 OMIM: 164310 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of fat-soluble vitamins, organism-specific biosystem (from REACTOME)
    Metabolism of fat-soluble vitamins, organism-specific biosystemVitamins A, D, E, and K are classified as fat-soluble. Metabolic pathways by which dietary precursors of vitamins A (Harrison 2005) and K(Shearer et al. 2012) are converted to active forms, and by wh...
  • Metabolism of vitamins and cofactors, organism-specific biosystem (from REACTOME)
    Metabolism of vitamins and cofactors, organism-specific biosystemVitamins are a diverse group of organic compounds, classified according to their solubility, either fat-soluble or water-soluble, that are either not synthesized or synthesized only in limited amount...
  • Retinoid metabolism and transport, organism-specific biosystem (from REACTOME)
    Retinoid metabolism and transport, organism-specific biosystemVitamin A (all-trans-retinol) must be taken up, either as carotenes from plants, or as retinyl esters from animal food. The most prominent carotenes are alpha-carotene, lycopene, lutein, beta-cryptox...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Visual phototransduction, organism-specific biosystem (from REACTOME)
    Visual phototransduction, organism-specific biosystemVisual phototransduction is the process by which photon absorption by visual pigment molecules in photoreceptor cells is converted to an electrical cellular response. The events in this process are p...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ12929, DKFZp781F1053

Gene Ontology Provided by GOA

Function Evidence Code Pubs
low-density lipoprotein particle receptor activity NAS
Non-traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
endocytosis NAS
Non-traceable Author Statement
more info
PubMed 
neuron migration IDA
Inferred from Direct Assay
more info
PubMed 
neuron projection development IDA
Inferred from Direct Assay
more info
PubMed 
regulation of growth NAS
Non-traceable Author Statement
more info
PubMed 
signal transduction NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
clathrin-coated pit IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane NAS
Non-traceable Author Statement
more info
PubMed 
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
low-density lipoprotein receptor-related protein 12
Names
LDLR-related protein 12
suppressor of tumorigenicity 7 protein

NCBI Reference Sequences (RefSeq)

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)

  1. NM_001135703.2NP_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/Swiss-Prot
    Q9Y561
    UniProtKB/TrEMBL
    Q59H02
    Related
    ENSP00000399148.2, ENST00000424843.6
    Conserved Domains (2) summary
    cd00041
    Location:28139
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    cd00112
    Location:432466
    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 ...
  2. NM_013437.4NP_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
    Q9Y561
    UniProtKB/TrEMBL
    Q59H02
    Related
    ENSP00000276654.5, ENST00000276654.9
    Conserved Domains (2) summary
    cd00041
    Location:47158
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    cd00112
    Location:451485
    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 ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    104489231..104589024 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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