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9 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ISOC2
isochorismatase domain containing 2
Chromosome 19 · 19q13.42
NCBI Gene: 79763Ensembl: ENSG00000063241.9HGNC: HGNC:26278UniProt: Q96AB3
41PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingprotein destabilizationcytoplasmnucleusneurodegenerative diseaselysosomal storage diseasemultiple sclerosisParkinson disease
✦AI Summary

ISOC2 (isochorismatase domain containing 2) is a novel protein containing an isochorismatase domain that localizes to multiple cellular compartments including the cytoplasm, cytosol, mitochondrion, and nucleus 1. The primary function of ISOC2 involves protein-protein interactions, specifically binding and interacting with the tumor suppressor p16(INK4a) 1. Over-expressed ISOC2 inhibits p16(INK4a) expression in a dose-dependent manner, suggesting a role in negative regulation of this tumor suppressor 1. ISOC2 also serves as a direct target of SAHA, a histone deacetylase inhibitor used in cancer therapy 2. At the mitochondrial level, ISOC2 is involved in mitochondrial structure maintenance and is significantly underexpressed in infertile men with varicocele, correlating with impaired mitochondrial function and oxidative stress 3. ISOC2 has clinical relevance to multiple diseases: it was identified as a prognostic mitochondrial-related gene in breast cancer, with expression levels correlating with patient outcomes and immunotherapy response 4. Additionally, a coding region variant in ISOC2 (rs4801638) showed nominal association with neural tube defects in a folate-interaction study 5, and differential splicing of ISOC2 exon 3 was validated in hepatocellular carcinoma samples 6. These findings suggest ISOC2 plays multifaceted roles in cancer development, mitochondrial homeostasis, and developmental anomalies.

Sources cited
1
ISOC2 binds and interacts with tumor suppressor p16(INK4a), colocalizes with it, and over-expression inhibits p16(INK4a) expression
PMID: 17658461
2
ISOC2 is a direct target of SAHA histone deacetylase inhibitor and functions as putative hydrolase involved in negative regulation of p16(INK4a)
PMID: 21898820
3
ISOC2 is involved in mitochondrial structure and is underexpressed in infertile men with varicocele, correlating with impaired mitochondrial function
PMID: 29530785
4
ISOC2 is one of nine prognostic mitochondrial-related genes in breast cancer prognostic model with independent prognostic value for overall survival
PMID: 39380996
5
ISOC2 rs4801638 variant shows nominal association with neural tube defect risk in genome-wide association study
PMID: 41378749
6
ISOC2 exon 3 alternative splicing is differentially expressed and validated in hepatocellular carcinoma samples
PMID: 30592283
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.42Moderate
Alzheimer diseaseOpen Targets
0.22Weak
lysosomal storage diseaseOpen Targets
0.22Weak
multiple sclerosisOpen Targets
0.22Weak
Parkinson diseaseOpen Targets
0.22Weak
trauma complicationOpen Targets
0.16Weak
cataractOpen Targets
0.13Weak
glomerulonephritisOpen Targets
0.12Weak
cardiovascular diseaseOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.00Suggestive
secondary progressive multiple sclerosisOpen Targets
0.00Suggestive
chronic kidney diseaseOpen Targets
0.00Suggestive
meningeal tuberculosisOpen Targets
0.00Suggestive
prostate cancerOpen Targets
0.00Suggestive
hepatocellular carcinomaOpen Targets
0.00Suggestive
craniofacial microsomiaOpen Targets
0.00Suggestive
infertilityOpen Targets
0.00Suggestive
macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing lossOpen Targets
0.00Suggestive
varicoceleOpen Targets
0.00Suggestive
Uterine CarcinosarcomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SERF2Shared pathway100%CDKN2AProtein interaction79%OPLAHProtein interaction76%NAPRTProtein interaction75%MROH6Protein interaction74%DAZAP2Shared pathway50%
Tissue Expression6 tissues
Liver
100%
Heart
14%
Bone Marrow
11%
Lung
10%
Ovary
9%
Brain
6%
Gene Interaction Network
Click a node to explore
ISOC2SERF2CDKN2AOPLAHNAPRTMROH6DAZAP2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q96AB3
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.23LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.81 [0.55–1.23]
RankingsWhere ISOC2 stands among ~20K protein-coding genes
  • #10,023of 20,598
    Most Researched41
  • #12,997of 17,882
    Most Constrained (LOEUF)1.23
Genes detectedISOC2
Sources retrieved9 papers
Response time—
📄 Sources
9▼
1
Mitochondrial-related genes as prognostic and metastatic markers in breast cancer: insights from comprehensive analysis and clinical models.
PMID: 39380996
Front Immunol · 2024
1.00
2
Transformation to a patient-centred medical home led and delivered by an urban Aboriginal and Torres Strait Islander community, and association with engagement and quality-of-care: quantitative findings from a pilot study.
PMID: 37674143
BMC Health Serv Res · 2023
0.89
3
Proteomic Signatures of Sperm Mitochondria in Varicocele: Clinical Use as Biomarkers of Varicocele Associated Infertility.
PMID: 29530785
J Urol · 2018
0.78
4
Folate Interaction With Genetic Risk for Neural Tube Defects Among Infants in Bangladesh.
PMID: 41378749
Birth Defects Res · 2025
0.67
5
Identification and characterization of a novel protein ISOC2 that interacts with p16INK4a.
PMID: 17658461
Biochem Biophys Res Commun · 2007
0.56