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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
DNMBP
dynamin binding protein
Chromosome 10 Β· 10q24.2
NCBI Gene: 23268Ensembl: ENSG00000107554.17HGNC: HGNC:30373UniProt: A0A1B0GTX1
65PubMed Papers
21Diseases
0Drugs
5Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cell-cell junctionprotein bindingguanyl-nucleotide exchange factor activitycytosolTotal congenital cataractcataracttotal early-onset cataractcongenital hydrocephalus
✦AI Summary

DNMBP (dynamin binding protein) functions as a guanine nucleotide exchange factor (GEF) for CDC42, regulating multiple cytoskeletal processes critical for epithelial cell organization and development 12. The protein plays essential roles in maintaining apical junction structure through F-actin organization 12, controlling spindle orientation during lumenogenesis 3, and supporting ciliogenesis. DNMBP is required for normal nephrogenesis, with reduced expression impairing differentiation of distal and connecting tubules while causing glomus and ciliary defects 4. Under hyperosmotic stress, the ubiquitin ligase Nedd4-2 promotes DNMBP localization to P-bodies, facilitating CDC42 activation and downstream p38-MAPK signaling 5. In disease contexts, DNMBP has been implicated in late-onset Alzheimer's disease, with SNPs in the gene showing association with AD risk in Japanese and Belgian populations, particularly in APOE epsilon4-negative individuals 67, though findings have not consistently replicated in Caucasian populations 8. Additionally, the DNMBP-AS1 long non-coding RNA regulates metabolic reprogramming in colorectal cancer through a competing endogenous RNA network 9 and promotes prostate cancer progression via miR-6766-3p/LCLAT1 regulation 10. DNMBP mutations are associated with cataract 48, indicating roles in lens development.

Sources cited
1
DNMBP regulates apical junction structure through F-actin organization in epithelial cells
PMID: 17015620
2
DNMBP plays a role in F-actin organization and epithelial junction regulation
PMID: 19767742
3
DNMBP participates in lumenogenesis by regulating spindle orientation
PMID: 20479467
4
Nedd4-2 targets DNMBP to P-bodies under hyperosmotic stress, facilitating CDC42 activation and p38-MAPK signaling
PMID: 40975170
5
DNMBP is essential for nephrogenesis, with knockdown causing reduced tubule differentiation and ciliary defects
PMID: 30863317
6
DNMBP SNPs associate with late-onset Alzheimer's disease in Japanese population, particularly in APOE epsilon3*3 individuals
PMID: 16740596
7
DNMBP genetic variants associate with late-onset AD in Belgian population, specifically in APOE epsilon4 non-carriers
PMID: 18359537
8
DNMBP SNPs show no significant association with Alzheimer's disease in Caucasian American cohort
PMID: 17442457
9
DNMBP-AS1 long non-coding RNA regulates colorectal cancer metabolic reprogramming and immune responses
PMID: 40603870
10
DNMBP-AS1 promotes prostate cancer development through miR-6766-3p and LCLAT1 regulation
PMID: 36602957
Disease Associationsβ“˜21
Total congenital cataractOpen Targets
0.65Moderate
cataractOpen Targets
0.42Moderate
total early-onset cataractOpen Targets
0.37Weak
congenital hydrocephalusOpen Targets
0.34Weak
Parkinson diseaseOpen Targets
0.28Weak
anaphylaxisOpen Targets
0.25Weak
corneal ulcerOpen Targets
0.24Weak
placenta praeviaOpen Targets
0.23Weak
intracranial hemorrhageOpen Targets
0.22Weak
adolescent idiopathic scoliosisOpen Targets
0.22Weak
migraine disorderOpen Targets
0.19Weak
Age-related cataractOpen Targets
0.15Weak
cervical carcinomaOpen Targets
0.09Suggestive
non-alcoholic fatty liver diseaseOpen Targets
0.09Suggestive
colorectal carcinomaOpen Targets
0.04Suggestive
Senior-Boichis syndromeOpen Targets
0.03Suggestive
sclerosing cholangitisOpen Targets
0.03Suggestive
adenomaOpen Targets
0.03Suggestive
Alzheimer diseaseOpen Targets
0.03Suggestive
cholestasis, intrahepatic, of pregnancy 3Open Targets
0.02Suggestive
Cataract 48UniProt
Pathogenic Variants5
NM_015221.4(DNMBP):c.2260+1G>APathogenic
Hydrocephalus, nonsyndromic, autosomal recessive 1
β˜…β˜†β˜†β˜†2025
NM_015221.4(DNMBP):c.811C>T (p.Arg271Ter)Pathogenic
Cataract 48
β˜…β˜†β˜†β˜†2019β†’ Residue 271
NM_015221.4(DNMBP):c.1442del (p.Gly481fs)Likely pathogenic
Cataract 48
β˜…β˜†β˜†β˜†β†’ Residue 481
NM_015221.4(DNMBP):c.2947_2948del (p.Glu982_Asp983insTer)Pathogenic
Cataract 48
β˜†β˜†β˜†β˜†2019β†’ Residue 982
NM_015221.4(DNMBP):c.2852_2855del (p.Thr951fs)Pathogenic
Cataract 48
β˜†β˜†β˜†β˜†2019β†’ Residue 951
View on ClinVar β†—
Related Genes
CDC42Protein interaction100%AMPHProtein interaction95%BIN1Protein interaction95%WASLProtein interaction95%BIN3Protein interaction89%MCF2LShared pathway50%
Tissue Expression6 tissues
Ovary
100%
Bone Marrow
99%
Liver
89%
Lung
81%
Heart
58%
Brain
26%
Gene Interaction Network
Click a node to explore
DNMBPCDC42AMPHBIN1WASLBIN3MCF2L
PROTEIN STRUCTURE
Preparing viewer…
PDB4CC2 Β· 1.55 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.66LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.55 [0.46–0.66]
RankingsWhere DNMBP stands among ~20K protein-coding genes
  • #7,162of 20,598
    Most Researched65
  • #3,558of 5,498
    Most Pathogenic Variants5
  • #4,872of 17,882
    Most Constrained (LOEUF)0.66
Genes detectedDNMBP
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
The ubiquitin ligase Nedd4-2 promotes localization of DNMBP/Tuba to P-bodies under hyperosmotic stress.
PMID: 40975170
J Biol Chem Β· 2025
1.00
2
Dynamin Binding Protein Is Required for
PMID: 30863317
Front Physiol Β· 2019
0.90
3
DNMBP-AS1/hsa-miR-30a-5p/PGC1Ξ± axis suppresses tumor progression of colorectal cancer by inhibiting PKM2-mediated Warburg effect and enhance anti-PD-1 therapy efficacy.
PMID: 40603870
Cell Death Discov Β· 2025
0.80
4
Long non-coding RNA DNMBP-AS1 promotes prostate cancer development by regulating LCLAT1.
PMID: 36602957
Syst Biol Reprod Med Β· 2023
0.70
5
Dynamin-binding protein gene on chromosome 10q is associated with late-onset Alzheimer's disease.
PMID: 16740596
Hum Mol Genet Β· 2006
0.60