DNMBP

Chr 10q24.2

dynamin binding protein

Aliases:: KIAA1010, Tuba, ARHGEF36
MANE:: ENST00000324109.9

OMIM: 611282 ↗NCBI: 23268 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

DNMBP · Q6XZF7

v62025-08-01

Predicted Aligned Error matrix for DNMBP — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

63.9/ 100

Low

1,577 residues

Confidence breakdown

Very high(≥ 90)27%
Confident(70–90)26%
Low(50–70)6%
Very low(< 50)41%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Bilateral congenital or childhood onset cataracts
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Total congenital cataract
0.65
cataract
0.42
total early-onset cataract
0.37
congenital hydrocephalus
0.34
anaphylaxis
0.25
corneal ulcer
0.24
Parkinson disease
0.24
placenta praevia
0.24
intracranial hemorrhage
0.24
adolescent idiopathic scoliosis
0.24

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Dynamin-binding protein

Plays a critical role as a guanine nucleotide exchange factor (GEF) for CDC42 in several intracellular processes associated with the actin and microtubule cytoskeleton. Regulates the structure of apical junctions through F-actin organization in epithelial cells (PubMed:17015620, PubMed:19767742). Participates in the normal lumenogenesis of epithelial cell cysts by regulating spindle orientation (PubMed:20479467). Plays a role in ciliogenesis (By similarity). May play a role in membrane trafficking between the cell surface and the Golgi (By similarity)