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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
DIP2B
DIP2 acetate--CoA ligase B (putative)
Chromosome 12 Β· 12q13.12
NCBI Gene: 57609Ensembl: ENSG00000066084.14HGNC: HGNC:29284UniProt: Q96IB4
57PubMed Papers
20Diseases
0Drugs
3Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
nucleuscytoplasmmembraneextracellular exosomeAbnormality of the skeletal systemhypertensionintellectual disability, FRA12A typeatrial fibrillation
✦AI Summary

DIP2B (Disco-interacting protein 2 homolog B) is a conserved protein with multiple cellular roles. Functionally, DIP2B negatively regulates axonal outgrowth and is essential for normal synaptic transmission [UniProt], promoting acetylation of alpha-tubulin. The gene contains functional domains including an Acyl-CoA synthetase domain and AMP-binding sites, linking it to metabolic regulation 1. DIP2B dysfunction has significant clinical relevance across multiple disease contexts. Loss-of-function variants in the paralog DIP2C are associated with expressive speech delay and developmental delays 1, suggesting DIP2B may have comparable neurodevelopmental functions. CGG trinucleotide repeat expansions in DIP2B contribute to neurodevelopmental disorders through epigenetic silencing 2, and expanded tandem repeats near DIP2B promoters cause gene silencing through DNA hypermethylation in cardiomyopathy 3. Notably, DIP2B tandem repeat expansions account for approximately 4% of cardiomyopathy risk. In cancer, DIP2B exhibits context-dependent roles. It acts as a tumor suppressor in renal cell carcinoma, where elevated expression correlates with improved survival 4, but shows oncogenic properties in breast cancer and lung adenocarcinoma, where high expression predicts poor prognosis and associates with reduced immune cell infiltration 5. Genetic variants affecting DIP2B alternative polyadenylation influence cancer susceptibility across multiple cancer types 6. Gene fusions involving DIP2B (DIP2B::BRAF) have been identified in melanomas 7.

Sources cited
1
DIP2 proteins are highly conserved and expressed in the central nervous system; DIP2 contains Acyl-CoA synthetase domain and AMP-binding sites
PMID: 38421105
2
DIP2B is implicated in neurodevelopmental disorders through CGG trinucleotide repeat expansion-mediated epigenetic silencing
PMID: 37768318
3
Expanded CGG tandem repeats in DIP2B cause promoter hypermethylation and gene silencing; rare tandem repeat expansions contribute to approximately 4% of cardiomyopathy risk
PMID: 38418263
4
DIP2B exhibits tumor-suppressive role in kidney renal clear cell carcinoma (KIRC) where elevated expression correlates with improved overall survival, but shows oncogenic functions in lung adenocarcinoma
PMID: 40959976
5
DIP2B is highly expressed in breast cancer and associates with poor overall survival, reduced immune cell infiltration, and enrichment in cancer-related pathways including PI3K-AKT signaling
PMID: 37004015
6
Genetic variants affecting DIP2B alternative polyadenylation influence cancer susceptibility; rs2280503 (DIP2B) variant increases posttranscriptional activity and cancer risk
PMID: 38759092
7
DIP2B::BRAF gene fusion has been identified in melanoma samples
PMID: 35871080
Disease Associationsβ“˜20
Abnormality of the skeletal systemOpen Targets
0.48Moderate
hypertensionOpen Targets
0.40Weak
intellectual disability, FRA12A typeOpen Targets
0.38Weak
atrial fibrillationOpen Targets
0.34Weak
Varicose veinsOpen Targets
0.27Weak
bipolar disorderOpen Targets
0.27Weak
venous thromboembolismOpen Targets
0.26Weak
coronary artery diseaseOpen Targets
0.26Weak
atrial heart septal defectOpen Targets
0.22Weak
Ischemic strokeOpen Targets
0.19Weak
androgenetic alopeciaOpen Targets
0.17Weak
vein disorderOpen Targets
0.15Weak
essential hypertensionOpen Targets
0.15Weak
Generalized non-motor (absence) seizureOpen Targets
0.12Weak
Increased blood pressureOpen Targets
0.11Weak
cancerOpen Targets
0.09Suggestive
lung adenocarcinomaOpen Targets
0.08Suggestive
breast cancerOpen Targets
0.07Suggestive
colorectal cancerOpen Targets
0.05Suggestive
neoplasmOpen Targets
0.04Suggestive
Pathogenic Variants3
NM_173602.3(DIP2B):c.4354G>A (p.Glu1452Lys)Likely pathogenic
Intellectual disability, FRA12A type
β˜…β˜†β˜†β˜†2025β†’ Residue 1452
NM_173602.3(DIP2B):c.4044-23_4044-15delLikely pathogenic
Intellectual disability, FRA12A type
β˜…β˜†β˜†β˜†2024
fragile site, folic acid type, rare, fra(12)(q13.1)Pathogenic
Intellectual disability, FRA12A type
β˜†β˜†β˜†β˜†2007
View on ClinVar β†—
Related Genes
DMAP1Protein interaction98%HSDL2Protein interaction81%AASDHProtein interaction73%RALGAPBProtein interaction72%KIAA0319Shared pathway25%CDKL3Shared pathway20%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
61%
Liver
32%
Heart
29%
Ovary
27%
Lung
25%
Gene Interaction Network
Click a node to explore
DIP2BDMAP1HSDL2AASDHRALGAPBKIAA0319CDKL3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q96IB4
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.45Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.37 [0.31–0.45]
RankingsWhere DIP2B stands among ~20K protein-coding genes
  • #7,953of 20,598
    Most Researched57
  • #4,049of 5,498
    Most Pathogenic Variants3
  • #2,491of 17,882
    Most Constrained (LOEUF)0.45 Β· top quartile
Genes detectedDIP2B
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay.
PMID: 38421105
Am J Med Genet A Β· 2024
1.00
2
Unravelling the link between neurodevelopmental disorders and short tandem CGG-repeat expansions.
PMID: 37768318
Emerg Top Life Sci Β· 2023
0.90
3
Identification of fusions with potential clinical significance in melanoma.
PMID: 35871080
Mod Pathol Β· 2022
0.80
4
Systematic analyses uncover endocrine-disrupting chemical-responsive genes linked to endometriosis.
PMID: 41443441
Reprod Toxicol Β· 2026
0.70
5
Pan-Cancer Analysis Identifies DIP2B as a Potential Biomarker That Inhibits Kidney Renal Clear Cell Carcinoma Progression.
PMID: 40959976
IUBMB Life Β· 2025
0.60