DENND5B

Chr 12p11.21

DENN domain containing 5B

Aliases:: MGC24039
MANE:: ENST00000389082.10

OMIM: 617279 ↗NCBI: 160518 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

DENND5B · Q6ZUT9

v62025-08-01

Predicted Aligned Error matrix for DENND5B — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

76.4/ 100

Confident

1,274 residues

Confidence breakdown

Very high(≥ 90)37%
Confident(70–90)35%
Low(50–70)10%
Very low(< 50)18%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

skin wound
0.24
Genu valgum
0.23
Genu varum
0.23
mathematical ability
0.23
intestinal infectious disease
0.20
Abnormality of refraction
0.18
congestive heart failure
0.18
vascular disorder
0.17
schizophrenia
0.15
intelligence
0.15

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

Protein function (UniProt)

DENN domain-containing protein 5B

Guanine nucleotide exchange factor (GEF) which may activate RAB39A and/or RAB39B. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form