LRRC7

Chr 1p31.1

leucine rich repeat containing 7

Aliases:: KIAA1365, densin-180
MANE:: ENST00000651989.2

OMIM: 614453 ↗NCBI: 57554 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

LRRC7 · Q96NW7

v62025-08-01

Predicted Aligned Error matrix for LRRC7 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

51.9/ 100

Low

1,537 residues

Confidence breakdown

Very high(≥ 90)26%
Confident(70–90)5%
Low(50–70)3%
Very low(< 50)66%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

protozoa infectious disease
0.29
multinodular goiter
0.29
mathematical ability
0.28
smoking initiation
0.27
breast benign neoplasm
0.26
scleritis
0.25
generalized dystonia
0.25
Hypoventilation
0.25
benign digestive system neoplasm
0.24
response to statin
0.24

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Leucine-rich repeat-containing protein 7

Adapter protein that is required for correct postsynapse architecture and regulates postsynaptic plasticity through interactions with different partners (PubMed:11729199, PubMed:39256359). Through its interaction with CACNA1C, it enhances trafficking of voltage-dependent L-type calcium channels to the dendritic cell membrane and increases channel postsynaptic clustering, thereby facilitating excitatory calcium signaling (By similarity). It also serves as a scaffold that brings CAMK2A and PPP1CA into close proximity, probably facilitating rapid dephosphorylation of CAMK2A by PPP1CA and influencing CAMK2A-mediated regulation of postsynaptic plasticity (PubMed:39256359). Necessary for DISC1 and GRM5 localization to postsynaptic density complexes and for both N-methyl D-aspartate receptor-dependent and metabotropic glutamate receptor-dependent long term synaptic depression (By similarity)