LRP11

protein-coding

LDL receptor related protein 11, the group of Low density lipoprotein receptors

Gene summary

Enables phosphoprotein binding activity. Predicted to be involved in several processes, including response to cold; response to heat; and response to water deprivation. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_032832.6

Inheritance

—

ClinVar variants

U:66B:1

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.4

Max pathogenic AF

—

Genomic locus

chr6:149,818,757-149,864,359

External References & Databases

Ensembl (ENSG00000120256)

Transcript & Mutation Effects

hg38 • Region Span ~45.6 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to LRP11 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 63

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_032832.6. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar			1
missense			63 clinvar	1 clinvar		64
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	66	1	0	67

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 23 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_032832.6	RefSeq	NP_116221.3	7	MANE Select
ENST00000239367.7	Ensembl	ENSP00000239367.2	7	MANE Select
NM_001410946.1	RefSeq	NP_001397875.1	4	Standard
ENST00000367368.3	Ensembl	ENSP00000356338.2	4	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

response to heat
response to cold
response to water deprivation
response to mechanical stimulus
multicellular organismal response to stress

Molecular Function

phosphoprotein binding

Cellular Component

plasma membrane
integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000239367
Coding exons: 7
Length: 46266
Individuals with no LoFs: 125708
Homozygous LoFs: 0
Heterozygous LoFs: 37
Defined: 125745
p: 0.000147

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.785	192	225	0.853	0.0000125	3108
Missense (PolyPhen)		69	82.521	0.83615		1099
Synonymous	0.372	95	99.7	0.953	0.00000623	1079
Loss of Function	2.35	7	17.7	0.396	0.00000104	221

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000062	0.000062	rare
Latino/Admixed American	0.00061	0.00061	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00022	0.00022	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.000035	0.000035	rare
South Asian	0.00013	0.00013	rare
Other	0.00049	0.00049	rare

dbNSFP Gene Annotations

Source: dbNSFP

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.493

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	High
Cancer	Medium	Medium	Medium