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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ICA1L
islet cell autoantigen 1 like
Chromosome 2 · 2q33.2
NCBI Gene: 130026Ensembl: ENSG00000163596.18HGNC: HGNC:14442UniProt: Q8NDH6
21PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingmembrane curvature sensor activityregulation of secretionmembrane bendingdiverticular diseasecoronary artery diseaseMyocardial Ischemiacoronary atherosclerosis
✦AI Summary

ICA1L (islet cell autoantigen 1 like) is a BAR-domain protein involved in membrane trafficking and vesicle dynamics. Functionally, ICA1L regulates secretion and membrane curvature through its interaction with PICK1, forming BAR-domain complexes essential for proper vesicle trafficking 1. In spermiogenesis, ICA1L is the major PICK1 binding partner in testes; ICA1L knockout mice show abnormal acrosome, nucleus, and mitochondrial formation, reducing sperm mobility and fertility 1. Disease relevance is substantial. ICA1L expression associates causally with multiple neurological conditions: Alzheimer's disease risk reduction through brain protein abundance 23, ADHD protection 4, and intracerebral hemorrhage risk 5. Genome-wide association studies identify ICA1L in loci associated with lacunar stroke 6 and migraine, where it likely modulates neuronal signaling and inflammatory responses 7. Clinically, ICA1L represents a potential therapeutic target for neurodegenerative diseases and stroke, though some studies caution against prioritizing it as a drug target due to potential side effects 3. ICA1L is predominantly expressed in excitatory-inhibitory neurons and glutamatergic neurons 42, suggesting its role in cerebral pathology may be neuron-specific. The protein also participates in myofibroma pathogenesis through gene fusion events 8.

Sources cited
1
ICA1L forms BAR-domain complexes with PICK1 and is crucial for acrosome formation; knockout causes defects in sperm development and reduced fertility
PMID: 26306493
2
ICA1L identified in locus associated with lacunar stroke through TWAS analysis
PMID: 33773637
3
Brain ICA1L protein abundance is causal for Alzheimer's disease risk reduction; expressed on glutamatergic neurons and astrocytes
PMID: 34381170
4
ICA1L identified as brain target for Alzheimer's disease but not recommended as prioritized drug due to potential side effects
PMID: 36759259
5
ICA1L provides protection against both ADHD and autism spectrum disorder; predominantly present on excitatory-inhibitory neurons
PMID: 38876042
6
ICA1L shows significant associations with migraine at both proteome and transcriptome levels; involved in neuronal signaling and inflammatory responses
PMID: 37592229
7
ICA1L locus at 2q33.2 associated with intracerebral hemorrhage; ICA1L transcript and protein levels genetically associated with ICH risk
PMID: 39298701
8
SRF-ICA1L gene fusion identified in myofibroma tumors
PMID: 33830670
Disease Associationsⓘ20
diverticular diseaseOpen Targets
0.33Weak
coronary artery diseaseOpen Targets
0.27Weak
Myocardial IschemiaOpen Targets
0.26Weak
coronary atherosclerosisOpen Targets
0.25Weak
intermediate coronary syndromeOpen Targets
0.25Weak
angina pectorisOpen Targets
0.24Weak
osteoarthritisOpen Targets
0.24Weak
strokeOpen Targets
0.24Weak
myocardial infarctionOpen Targets
0.22Weak
coronary artery bypassOpen Targets
0.20Weak
heart diseaseOpen Targets
0.19Weak
percutaneous transluminal coronary angioplastyOpen Targets
0.19Weak
chronic obstructive pulmonary diseaseOpen Targets
0.19Weak
joint diseaseOpen Targets
0.18Weak
Alzheimer diseaseOpen Targets
0.18Weak
smoking initiationOpen Targets
0.18Weak
chronic bronchitisOpen Targets
0.18Weak
insomniaOpen Targets
0.18Weak
albuminuriaOpen Targets
0.17Weak
migraine disorderOpen Targets
0.17Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ICA1Shared pathway100%PICK1Protein interaction80%POFUT2Shared pathway33%PTPRNShared pathway20%PTPRN2Shared pathway20%SH3PXD2ACo-mentioned in literature20%
Tissue Expression6 tissues
Brain
100%
Ovary
87%
Bone Marrow
59%
Heart
53%
Lung
18%
Liver
5%
Gene Interaction Network
Click a node to explore
ICA1LICA1PICK1POFUT2PTPRNPTPRN2SH3PXD2A
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8NDH6
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.86LoF Tolerant
pLIⓘ
0.01Tolerant
Observed/Expected LoF0.55 [0.36–0.86]
RankingsWhere ICA1L stands among ~20K protein-coding genes
  • #13,926of 20,598
    Most Researched21
  • #7,510of 17,882
    Most Constrained (LOEUF)0.86
Genes detectedICA1L
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Genetic basis of lacunar stroke: a pooled analysis of individual patient data and genome-wide association studies.
PMID: 33773637
Lancet Neurol · 2021
1.00
2
Mendelian randomization analysis of the brain, cerebrospinal fluid, and plasma proteome identifies potential drug targets for attention deficit hyperactivity disorder.
PMID: 38876042
EBioMedicine · 2024
0.90
3
Identification of Genetic Loci Associated With Intracerebral Hemorrhage Using a Multitrait Analysis Approach.
PMID: 39298701
Neurology · 2024
0.80
4
Prioritization of Drug Targets for Neurodegenerative Diseases by Integrating Genetic and Proteomic Data From Brain and Blood.
PMID: 36759259
Biol Psychiatry · 2023
0.70
5
Identifying causal genes for migraine by integrating the proteome and transcriptome.
PMID: 37592229
J Headache Pain · 2023
0.60