LRRC7: Leucine-Rich Repeat Containing 7

A scaffold protein linking synaptic signaling to cytoskeletal dynamics

Gene Information Card

Symbol LRRC7
Full Name Leucine Rich Repeat Containing 7
Gene Type protein-coding
Chromosomal Location 1p31.1
NCBI Gene ID 57554 ncbi.nlm.nih.gov/gene/57554
Ensembl ID ENSG00000143106
UniProt ID Q96NW7
OMIM ID 612851
HGNC ID 18739
Aliases densin-180, KIAA1365, LRRGT00071

Description

LRRC7 encodes densin-180, a scaffold protein predominantly expressed in brain. It localizes to postsynaptic densities and interacts with alpha-actinin, CaMKII, and other synaptic proteins to regulate dendritic spine morphology and synaptic plasticity. Mutations in LRRC7 are associated with neurodevelopmental disorders including intellectual disability, autism spectrum disorder, and epilepsy.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Intellectual disability, autosomal dominant 71 (MRD71) Loss-of-function mutations disrupt synaptic scaffold function, impairing dendritic spine maturation and synaptic transmission. ClinVar, OMIM #618090
Autism spectrum disorder De novo missense and truncating variants alter densin-180 interactions with CaMKII and alpha-actinin, affecting synaptic signaling. ClinVar, PubMed studies
Epilepsy, early-onset Disruption of postsynaptic density organization leads to neuronal hyperexcitability. ClinVar, OMIM

Expression Profile

Tissue Expression
Tissue nTPM level
Brain (cerebral cortex) 38.2 High
Cerebellum 25.6 Medium
Testis 4.1 Low
Heart 1.8 Not detected
Liver 0.5 Not detected
Cell Line Expression
Cell Line nTPM Notes
SH-SY5Y (neuroblastoma) 12.3 Neuronal lineage
U-87 MG (glioblastoma) 8.7 Glial expression
HEK293 (embryonic kidney) 0.2 Minimal expression
Data source：Human Protein Atlas（proteinatlas.org）

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1234C>T (p.Arg412*) Nonsense Rare Loss of function; truncation of densin-180
c.567_569del (p.Glu189del) In-frame deletion Very rare Alters LRR domain, impaired binding to alpha-actinin
c.2101G>A (p.Gly701Arg) Missense Rare Reduced CaMKII interaction, dominant-negative effect
Mutation functional classification

Loss of Function (LOF)

Nonsense and frameshift variants leading to premature termination codons and nonsense-mediated decay; associated with MRD71.

Gain of Function (GOF)

Not reported.

Dominant Negative (DN)

Missense variants in the CaMKII-binding region (e.g., p.Gly701Arg) disrupt normal scaffold assembly and synaptic signaling.
View complete mutation data：
ClinVar：https://www.clinvar.com/gene/57554
COSMIC：https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=LRRC7

Gene Ontology (GO)

• structural constituent of cytoskeleton (GO:0005200) • protein binding (GO:0005515)
• cytoplasm (GO:0005737) • postsynaptic density (GO:0014069)
• dendrite (GO:0030425) • synapse (GO:0045202)
• synapse organization (GO:0050808) • excitatory synapse (GO:0060076)

Pathways

• Synaptic signaling (Reactome R-HSA-112316)
• CaMKII-mediated signaling (Reactome R-HSA-4420097)
• Postsynaptic density organization (Reactome R-HSA-6794362)

Protein Summary

Densin-180 (LRRC7) is a 1,606-amino acid scaffold protein with 16 N-terminal leucine-rich repeats, a sialophorin-like domain, and a C-terminal PDZ-binding motif. It anchors CaMKII and alpha-actinin at the postsynaptic density, linking NMDA receptor signaling to actin cytoskeleton remodeling. Its expression is highly enriched in brain, particularly in dendritic spines. Mutations cause neurodevelopmental disorders by disrupting synaptic structure and plasticity.

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Related Products

Product name Cat.No. Species Gene ID
LRRC73 Knockout HEK293 Cell Line EDJ-KQ8823 Human 221424 Details Get a Quote
LRRC74A Knockout HEK293 Cell Line EDJ-KQ10445 Human 145497 Details Get a Quote
LRRC71 Knockout HEK293 Cell Line EDJ-KQ11139 Human 149499 Details Get a Quote
LRRC74B Knockout HEK293 Cell Line EDJ-KQ11598 Human 400891 Details Get a Quote
LRRC7 Knockout HEK293 Cell Line EDJ-KQ14113 Human 57554 Details Get a Quote
LRRC70 Knockout HEK293 Cell Line EDJ-KQ14140 Human 100130733 Details Get a Quote
LRRC72 Knockout HEK293 Cell Line EDJ-KQ14141 Human 100506049 Details Get a Quote
LRRC75A Knockout HEK293 Cell Line EDJ-KQ14142 Human 388341 Details Get a Quote
LRRC75B Knockout HEK293 Cell Line EDJ-KQ14144 Human 388886 Details Get a Quote
LRRC75A Knockout HCT 116 Cell Line EDJ-KQ44071 Human 388341 Details Get a Quote
LRRC75B Knockout A-549 Cell Line EDJ-KQ44072 Human 388886 Details Get a Quote
LRRC75B Knockout HCT 116 Cell Line EDJ-KQ44073 Human 388886 Details Get a Quote
LRRC75B Knockout HeLa Cell Line EDJ-KQ44074 Human 388886 Details Get a Quote
LRRC75A Knockout HeLa Cell Line EDJ-KQ42844 Human 388341 Details Get a Quote
LRRC7 Knockout HeLa Cell Line EDJ-KQ56865 Human 57554 Details Get a Quote

Reference Databases

NCBI Gene https://www.ncbi.nlm.nih.gov/gene/57554
OMIM https://www.omim.org/entry/612851
HGNC https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:18739
Ensembl https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000143106
UniProt https://www.uniprot.org/uniprot/Q96NW7
ClinVar https://www.ncbi.nlm.nih.gov/clinvar/?term=LRRC7%5Bgene%5D
COSMIC https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=LRRC7
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