HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
KALRN
kalirin RhoGEF kinase
Chromosome 3 · 3q21.1-q21.2
NCBI Gene: 8997Ensembl: ENSG00000160145.16HGNC: HGNC:4814UniProt: A0A804HI91
86PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedKinase
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
extracellular exosomeprotein bindingguanyl-nucleotide exchange factor activityextrinsic component of membraneneurodegenerative diseasehypertensionglaucomaopen-angle glaucoma
✦AI Summary

KALRN encodes kalirin, a multidomain guanine nucleotide exchange factor (GEF) that activates Rho family GTPases to regulate neuronal morphology and synaptic function 1. Kalirin promotes neurite outgrowth, dendritic spine formation and remodeling, and regulates the actin cytoskeleton through its GEF activity 2. The protein functions as a central regulator of synaptic plasticity and is expressed in multiple isoforms generated by alternative splicing, particularly in the brain where exon 37 inclusion modulates neuronal function 1. KALRN dysregulation is implicated in diverse neuropsychiatric and neurodegenerative disorders. Genetic studies link KALRN variants to autism spectrum disorder, Alzheimer's disease, schizophrenia, intellectual disability, and ischemic stroke 23. A rare D1338N variant impairs Rac1 activation and correlates with reduced cortical thickness in schizophrenia and depression patients 4. KALRN also emerges as a TDP-43 splicing target; cryptic splicing following TDP-43 loss causes KALRN downregulation and neuronal dysfunction in frontotemporal dementia and ALS 5. Additionally, KALRN gene polymorphisms associate with coronary artery disease risk in type 2 diabetic patients 67. KALRN represents a promising therapeutic target for synaptopathies and neurodegenerative diseases 2.

Sources cited
1
KALRN generates multiple isoforms through alternative splicing; brain-enriched exon 37 inclusion affects neurite outgrowth independent of GEF activity
PMID: 39656879
2
Kalirin is a synaptic regulator involved in dendritic spine formation and plasticity; KALRN dysregulation links to autism, Alzheimer's disease, schizophrenia, addiction, and intellectual disabilities; KALRN is a potential pharmacological target
PMID: 33189799
3
KALRN rs6438833 variant associates with ischemic stroke in Chinese Han population
PMID: 25917671
4
D1338N variant in KALRN reduces Rac1 activation, impairs spine morphogenesis, and correlates with reduced cortical thickness in schizophrenia and major depressive disorder
PMID: 25224588
5
KALRN is a TDP-43 splicing target; cryptic splicing causes KALRN downregulation and neuronal dysfunction in frontotemporal dementia and ALS
PMID: 40949955
6
KALRN rs9289231 G allele associates with coronary artery disease risk in type 2 diabetic patients
PMID: 27218147
7
KALRN rs9289231 GG genotype associates with increased early-onset coronary artery disease risk; elevated serum kalirin levels observed in CAD patients
PMID: 30483314
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.42Moderate
hypertensionOpen Targets
0.40Moderate
glaucomaOpen Targets
0.34Weak
open-angle glaucomaOpen Targets
0.33Weak
myocardial infarctionOpen Targets
0.32Weak
ArthropathyOpen Targets
0.30Weak
cardiac arrestOpen Targets
0.29Weak
systemic lupus erythematosusOpen Targets
0.28Weak
Abnormality of the skeletal systemOpen Targets
0.28Weak
diffuse large B-cell lymphomaOpen Targets
0.28Weak
placenta praeviaOpen Targets
0.27Weak
ThromboembolismOpen Targets
0.27Weak
pituitary gland diseaseOpen Targets
0.26Weak
gastric ulcerOpen Targets
0.25Weak
hemorrhageOpen Targets
0.25Weak
cervical carcinomaOpen Targets
0.24Weak
smoking initiationOpen Targets
0.23Weak
Alzheimer diseaseOpen Targets
0.23Weak
multinodular goiterOpen Targets
0.23Weak
glomerulonephritisOpen Targets
0.22Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PAMProtein interaction97%RAC1Protein interaction96%RHOGProtein interaction92%ARHGAP31Protein interaction88%DAPK3Protein interaction87%DAPK2Protein interaction86%
Tissue Expression6 tissues
Heart
100%
Brain
95%
Liver
43%
Lung
21%
Ovary
19%
Bone Marrow
2%
Gene Interaction Network
Click a node to explore
KALRNPAMRAC1RHOGARHGAP31DAPK3DAPK2
PROTEIN STRUCTURE
Preparing viewer…
PDB8C7D · 1.86 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.23Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.18 [0.15–0.23]
RankingsWhere KALRN stands among ~20K protein-coding genes
  • #5,545of 20,598
    Most Researched86
  • #642of 17,882
    Most Constrained (LOEUF)0.23 · top 5%
Genes detectedKALRN
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Identification and characterization of human KALRN mRNA and Kalirin protein isoforms.
PMID: 39656879
Cereb Cortex · 2024
1.00
2
KALRN: A central regulator of synaptic function and synaptopathies.
PMID: 33189799
Gene · 2021
0.90
3
Are Methylation Patterns in the
PMID: 39408648
Int J Mol Sci · 2024
0.80
4
Association of KALRN, ADIPOQ, and FTO gene polymorphism in type 2 diabetic patients with coronary artery disease: possible predisposing markers.
PMID: 27218147
Coron Artery Dis · 2016
0.70
5
Cryptic splicing in synaptic and membrane excitability genes links TDP-43 loss to neuronal dysfunction.
PMID: 40949955
bioRxiv · 2025
0.60