SBF2

Chr 11p15.4

SET binding factor 2

Aliases:: KIAA1766, MTMR13, DENND7B
MANE:: ENST00000256190.13

OMIM: 607697 ↗NCBI: 81846 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

SBF2 · Q86WG5

v62025-08-01

Predicted Aligned Error matrix for SBF2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

73.2/ 100

Confident

1,849 residues

Confidence breakdown

Very high(≥ 90)26%
Confident(70–90)43%
Low(50–70)10%
Very low(< 50)21%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Glaucoma (developmental)
BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy
BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder
BIALLELIC, autosomal or pseudoautosomal
Structural eye disease
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Charcot-Marie-Tooth disease type 4B2
0.77
Charcot-Marie-Tooth disease type 4
0.56
hereditary disease
0.50
Charcot-Marie-Tooth disease
0.46
Abnormality of the skeletal system
0.45
hypertensive disorder
0.45
Tip-toe gait
0.40
Varicose veins
0.40
essential hypertension
0.38
congestive heart failure
0.37

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

Protein function (UniProt)

Myotubularin-related protein 13

Guanine nucleotide exchange factor (GEF) which activates RAB21 and possibly RAB28 (PubMed:20937701, PubMed:25648148). Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form (PubMed:20937701, PubMed:25648148). In response to starvation-induced autophagy, activates RAB21 which in turn binds to and regulates SNARE protein VAMP8 endolysosomal transport required for SNARE-mediated autophagosome-lysosome fusion (PubMed:25648148). Acts as an adapter for the phosphatase MTMR2 (By similarity). Increases MTMR2 catalytic activity towards phosphatidylinositol 3,5-bisphosphate and to a lesser extent towards phosphatidylinositol 3-phosphate (By similarity)