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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ITSN2
intersectin 2
Chromosome 2 · 2p23.3
NCBI Gene: 50618Ensembl: ENSG00000198399.17HGNC: HGNC:6184UniProt: A6H8W8
93PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
positive regulation of dendrite extensionprotein bindingcentrosomeextracellular exosomenephrotic syndromeurinary system diseasemuscular diseaseschizophrenia
✦AI Summary

ITSN2 (intersectin 2) is a multi-domain scaffold protein that serves as a critical adapter in clathrin-mediated endocytosis and cellular signaling pathways 1. The protein exists in two major splice isoforms: a short form containing EH domains, coiled-coil region, and five SH3 domains, and a longer form with additional DH, PH, and C2 domains that functions as a guanine nucleotide exchange factor for Rho-like GTPases 12. ITSN2 regulates endocytic processes by inhibiting transferrin internalization and colocalizing with endocytic machinery components like Eps15 1. The protein interacts with multiple signaling partners including Eps8, promoting its degradation through lysosomal pathways 3, and WIP in invadopodia formation during cancer cell invasion 4. ITSN2 demonstrates differential phosphorylation patterns compared to ITSN1, enabling specific recognition by SH2 domain-containing proteins including kinases and adaptor proteins 5. Clinically, ITSN2 mutations are associated with nephrotic syndrome, where it functions as a Cdc42 guanine nucleotide exchange factor in podocytes 2. The protein also plays roles in cellular senescence through ING1a-mediated upregulation and shows brain-specific expression patterns of certain splice variants 67.

Sources cited
1
ITSN2 structure, splice variants, subcellular localization, and role in transferrin internalization
PMID: 10922467
2
ITSN2 mutations cause nephrotic syndrome and function as Cdc42 GEF in podocytes
PMID: 29773874
3
ITSN2 binds Eps8 and promotes its lysosomal degradation
PMID: 22449706
4
ITSN2 interacts with WIP in invadopodia formation during cancer cell invasion
PMID: 25797047
5
ITSN2 shows differential phosphorylation and SH2 domain recognition compared to ITSN1
PMID: 23936226
6
ITSN2 is upregulated by ING1a and involved in cellular senescence
PMID: 23472054
7
ITSN2 splice variants show brain-specific expression patterns
PMID: 17390067
Disease Associationsⓘ20
nephrotic syndromeOpen Targets
0.39Weak
urinary system diseaseOpen Targets
0.32Weak
muscular diseaseOpen Targets
0.28Weak
schizophreniaOpen Targets
0.26Weak
respiratory tract infectious disorderOpen Targets
0.23Weak
Varicose veinsOpen Targets
0.19Weak
B-cell non-Hodgkins lymphomaOpen Targets
0.15Weak
Landau-Kleffner syndromeOpen Targets
0.12Weak
focal segmental glomerulosclerosisOpen Targets
0.07Suggestive
familial idiopathic steroid-resistant nephrotic syndromeOpen Targets
0.07Suggestive
attention deficit hyperactivity disorderOpen Targets
0.07Suggestive
proteinuria, chronic benignOpen Targets
0.06Suggestive
uridine-cytidineuriaOpen Targets
0.06Suggestive
nail-patella-like renal diseaseOpen Targets
0.05Suggestive
hereditary attention deficit-hyperactivity disorderOpen Targets
0.05Suggestive
Abruptio PlacentaeOpen Targets
0.05Suggestive
isolated sedoheptulokinase deficiencyOpen Targets
0.05Suggestive
pentosuriaOpen Targets
0.05Suggestive
nephrotic syndrome, type 20Open Targets
0.05Suggestive
intellectual disability, autosomal recessive 59Open Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CDC42Protein interaction100%CTTNProtein interaction100%AMPHProtein interaction98%BIN1Protein interaction98%DNM2Protein interaction98%WIPF1Protein interaction98%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
69%
Heart
44%
Liver
38%
Ovary
35%
Brain
32%
Gene Interaction Network
Click a node to explore
ITSN2CDC42CTTNAMPHBIN1DNM2WIPF1
PROTEIN STRUCTURE
Preparing viewer…
PDB3JZY · 1.56 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.76LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.65 [0.55–0.76]
RankingsWhere ITSN2 stands among ~20K protein-coding genes
  • #5,147of 20,598
    Most Researched93 · top quartile
  • #6,131of 17,882
    Most Constrained (LOEUF)0.76
Genes detectedITSN2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Human intersectin 2 (ITSN2) binds to Eps8 protein and enhances its degradation.
PMID: 22449706
BMB Rep · 2012
1.00
2
Expression analysis of human intersectin 2 gene (ITSN2) minor splice variants showing differential expression in normal human brain.
PMID: 17390067
Oncol Rep · 2007
0.90
3
The ING1a tumor suppressor regulates endocytosis to induce cellular senescence via the Rb-E2F pathway.
PMID: 23472054
PLoS Biol · 2013
0.80
4
Intersectin - many facets of a scaffold protein.
PMID: 38174740
Biochem Soc Trans · 2024
0.70
5
Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment.
PMID: 29773874
Nat Commun · 2018
0.60