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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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LIN7B
lin-7 cell polarity scaffold B
Chromosome 19 · 19q13.33
NCBI Gene: 64130Ensembl: ENSG00000104863.13HGNC: HGNC:17788UniProt: Q9HAP6
33PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingprotein domain specific bindingneurotransmitter secretionregulation of synaptic assembly at neuromuscular junctionAbnormality of the skeletal systemautism spectrum disorderHuntington diseaseastrocytoma
✦AI Summary

LIN7B (lin-7 cell polarity scaffold B) is a membrane-associated scaffold protein located on chromosome 19.41 that establishes and maintains asymmetric distribution of ion channels and receptors at polarized cell plasma membranes 1. LIN7B functions as part of a tripartite complex with CASK and APBA1 to regulate protein delivery and recycling to correct membrane domains, including trafficking of NMDA receptor subunit NR2B to neuronal postsynaptic densities and localization of Kir2 channels and GABA transporters to epithelial basolateral membranes 1. During brain development, LIN7B is essential for excitatory neuron migration and interhemispheric axon growth; acute knockdown causes delayed cortical neuronal migration and impaired axon extension 2. Mutations and duplications in LIN7B have been identified in autism spectrum disorder patients, suggesting functional deficiencies contribute to abnormal cortical architecture 2. LIN7B expression is significantly decreased in Huntington disease layer 5 motor cortex neurons, potentially contributing to impaired corticostriatal connectivity and motor dysfunction 3. In spinal cord injury, LIN7B expression is reduced alongside other synaptic hub genes, indicating its involvement in injury response mechanisms 4. Recent proteomic studies identified LIN7B as a cerebrospinal fluid biomarker consistently associated with neuropsychiatric symptom progression in mild cognitive impairment and Alzheimer's disease 5.

Sources cited
1
LIN7B functions as a scaffold protein in the CASK/MPP7 complex for establishing apicobasal polarity and localization of ion channels and receptors
PMID: 14719143
2
LIN7B mutations and duplications identified in autism spectrum disorder patients; knockdown impairs neuronal migration and interhemispheric axon growth during corticogenesis
PMID: 25196215
3
LIN7B expression is decreased in Huntington disease layer 5 cortical neurons, contributing to impaired corticostriatal connectivity
PMID: 20720508
4
LIN7B is a synaptic hub gene with significantly decreased expression in spinal cord injury
PMID: 37170986
5
LIN7B is a cerebrospinal fluid biomarker consistently associated with neuropsychiatric symptom progression in MCI and Alzheimer's disease
PMID: 41553038
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.08Suggestive
autism spectrum disorderOpen Targets
0.01Suggestive
Huntington diseaseOpen Targets
0.01Suggestive
astrocytomaOpen Targets
0.00Suggestive
schizophreniaOpen Targets
0.00Suggestive
Alzheimer diseaseOpen Targets
0.00Suggestive
type 1 diabetes mellitusOpen Targets
0.00Suggestive
hepatocellular carcinomaOpen Targets
0.00Suggestive
ependymomaOpen Targets
0.00Suggestive
oligodendrogliomaOpen Targets
0.00Suggestive
cervical cancerOpen Targets
0.00Suggestive
cholangiocarcinomaOpen Targets
0.00Suggestive
clear cell renal carcinomaOpen Targets
0.00Suggestive
gastric cancerOpen Targets
0.00Suggestive
hereditary breast carcinomaOpen Targets
0.00Suggestive
lung cancerOpen Targets
0.00Suggestive
squamous cell lung carcinomaOpen Targets
0.00Suggestive
urinary bladder cancerOpen Targets
0.00Suggestive
Uterine CarcinosarcomaOpen Targets
0.00Suggestive
Uveal MelanomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CASKProtein interaction100%RTKNProtein interaction96%LIN7CProtein interaction95%APBA1Protein interaction93%DLG1Protein interaction88%GRIN2BProtein interaction84%
Tissue Expression6 tissues
Heart
100%
Brain
88%
Liver
55%
Ovary
45%
Lung
42%
Bone Marrow
30%
Gene Interaction Network
Click a node to explore
LIN7BCASKRTKNLIN7CAPBA1DLG1GRIN2B
PROTEIN STRUCTURE
Preparing viewer…
PDB2DKR · NMR
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.15LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.73 [0.48–1.15]
RankingsWhere LIN7B stands among ~20K protein-coding genes
  • #11,363of 20,598
    Most Researched33
  • #11,955of 17,882
    Most Constrained (LOEUF)1.15
Genes detectedLIN7B
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Identification and characterization of human PPFIA4 gene in silico.
PMID: 14612982
Int J Mol Med · 2003
1.00
2
Identification and characterization of human MPP7 gene and mouse Mpp7 gene in silico.
PMID: 14719143
Int J Mol Med · 2004
0.90
3
Role of an adaptor protein Lin-7B in brain development: possible involvement in autism spectrum disorders.
PMID: 25196215
J Neurochem · 2015
0.80
4
Decreased Lin7b expression in layer 5 pyramidal neurons may contribute to impaired corticostriatal connectivity in huntington disease.
PMID: 20720508
J Neuropathol Exp Neurol · 2010
0.70
5
Embryonic ionizing radiation exposure results in expression alterations of genes associated with cardiovascular and neurological development, function, and disease and modified cardiovascular function in zebrafish.
PMID: 25147559
Front Genet · 2014
0.60