VLDLR
  • 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
VLDLR (HGNC:12698) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
very low density lipoprotein receptor
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
CARMQ1, CHRMQ1, VLDLRCH
%HI
13.41(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.83(Read more about gnomAD LOEUF score)
Cytoband
9p24.2
Genomic Coordinates
GRCh37/hg19: chr9:2621787-2660056 NCBI Ensembl UCSC
GRCh38/hg38: chr9:2621787-2660056 NCBI Ensembl UCSC
MANE Select Transcript
NM_003383.5 ENST00000382100.8 (Read more about MANE Select)
Function
Multifunctional cell surface receptor that binds VLDL and transports it into cells by endocytosis and therefore plays an important role in energy metabolism. Binds also to a wide range of other molecules including Reelin/RELN or apolipoprotein E/APOE- containing ligands as well as clusterin/CLU (PubMed:24381170, PubMed:30873003). In the off-state of the pathway, forms homooligomers or heterooligomers with LRP8 (PubMed:30873003). Upon binding to ligands, homooligomers are rearranged to higher ord... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-34151
ClinGen Curation ID:
CCID:008095
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
Not Yet Evaluated
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 Monarch

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000009.11) (NC_000009.12)