LRP2
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
LRP2 (HGNC:6694) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
LDL receptor related protein 2
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
gp330, DBS
%HI
39.5(Read more about the DECIPHER Haploinsufficiency Index)
pLI
1(Read more about gnomAD pLI score)
LOEUF
0.35(Read more about gnomAD LOEUF score)
Cytoband
2q31.1
Genomic Coordinates
GRCh37/hg19: chr2:169983619-170219044 NCBI Ensembl UCSC
GRCh38/hg38: chr2:169127109-169362534 NCBI Ensembl UCSC
MANE Select Transcript
NM_004525.3 ENST00000649046.1 (Read more about MANE Select)
Function
Multiligand endocytic receptor (By similarity). Acts together with CUBN to mediate endocytosis of high-density lipoproteins (By similarity). Mediates receptor-mediated uptake of polybasic drugs such as aprotinin, aminoglycosides and polymyxin B (By similarity). In the kidney, mediates the tubular uptake and clearance of leptin (By similarity). Also mediates transport of leptin across the blood-brain barrier through endocytosis at the choroid plexus epithelium (By similarity). Endocytosis of lept... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-35087
ClinGen Curation ID:
CCID:007418
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
04/24/2019

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
HI Evidence Comments:
Homozygous and compound heterozygous mutations affecting LRP2 are associated with autosomal recessive Donnai-Barrow syndrome. Kantarci S et al. 2007 PMID: 17632512 reported four unrelated pedigrees with a total of at 6 healthy carrier sibs and 4 healthy carrier parents, who were heterozygous for frameshift mutations. de Ligt J. et al. 2012 PMID: 23033978 Exome sequencing was performed on 100 patients affected with intellectual disability, as well as their healthy parents to identify pathogenic de novo mutations. Although one affected patient was found to have a de novo frameshift mutation in LRP2, the second allele was found to have a paternally inherited missense mutation. Clinical re-evaluation of the proband was consistent with a diagnosis of autosomal recessive Donnai-Barrow syndrome.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
No focal duplications of this gene have been reported to be associated with an abnormal phenotype at the time of this review.

Genomic View

Select assembly: (NC_000002.11) (NC_000002.12)