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6 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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LDLRAD1
low density lipoprotein receptor class A domain containing 1
Chromosome 1 · 1p32.3
NCBI Gene: 388633Ensembl: ENSG00000203985.12HGNC: HGNC:32069UniProt: Q5T700
8PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Receptor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingvesicle-mediated transportmembraneankylosing spondylitisbenign neoplasmhypoparathyroidism, familial isolated, 2pseudohypoparathyroidism type 2
✦AI Summary

AI summary not yet available. Showing NCBI Gene summary.

low density lipoprotein receptor class A domain containing 1

⚠Limited data available — This gene has 0 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
ankylosing spondylitisOpen Targets
0.28Weak
benign neoplasmOpen Targets
0.19Weak
hypoparathyroidism, familial isolated, 2Open Targets
0.04Suggestive
pseudohypoparathyroidism type 2Open Targets
0.04Suggestive
congenital enteropathy due to enteropeptidase deficiencyOpen Targets
0.04Suggestive
Familial isolated hypoparathyroidismOpen Targets
0.04Suggestive
congenital lethal erythrodermaOpen Targets
0.04Suggestive
intestinal hypomagnesemia 1Open Targets
0.04Suggestive
Primary hypomagnesemia with secondary hypocalcemiaOpen Targets
0.04Suggestive
gastric mucosal hypertrophyOpen Targets
0.04Suggestive
pseudohyperaldosteronism type 2Open Targets
0.04Suggestive
Rotor syndromeOpen Targets
0.04Suggestive
Liddle syndrome 2Open Targets
0.03Suggestive
Liddle syndrome 3Open Targets
0.03Suggestive
22q11.2 deletion syndromeOpen Targets
0.03Suggestive
nephrotic syndrome 15Open Targets
0.03Suggestive
familial isolated hypoparathyroidism due to agenesis of parathyroid glandOpen Targets
0.03Suggestive
ulna metaphyseal dysplasia syndromeOpen Targets
0.03Suggestive
Liddle syndrome 1Open Targets
0.03Suggestive
Deafness - small bowel diverticulosis - neuropathyOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MEGF6Shared pathway100%CD163Shared pathway100%RAB36Shared pathway100%CACFD1Shared pathway100%LRP10Shared pathway100%YIPF1Shared pathway100%
Tissue Expression6 tissues
Lung
100%
Brain
5%
Liver
2%
Bone Marrow
2%
Ovary
2%
Heart
0%
Gene Interaction Network
Click a node to explore
LDLRAD1MEGF6CD163RAB36CACFD1LRP10YIPF1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q5T700
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.14LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.79 [0.56–1.14]
RankingsWhere LDLRAD1 stands among ~20K protein-coding genes
  • #17,636of 20,598
    Most Researched8
  • #11,868of 17,882
    Most Constrained (LOEUF)1.14
Genes detectedLDLRAD1
Sources retrieved6 papers
Response time—
📄 Sources
6▼
1
Genome-wide scan for runs of homozygosity in South American Camelids.
PMID: 37605116
BMC Genomics · 2023
1.00
2
Dysregulation of sputum columnar epithelial cells and products in distinct asthma phenotypes.
PMID: 31264263
Clin Exp Allergy · 2019
0.83
3
Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.
PMID: 23555315
PLoS Genet · 2013
0.67
4
Genetic loci associated with prevalent and incident myocardial infarction and coronary heart disease in the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium.
PMID: 33186364
PLoS One · 2020
0.50
5
PARK10 is a major locus for sporadic neuropathologically confirmed Parkinson disease.
PMID: 25663231
Neurology · 2015
0.33