SLC35B2

Chr 6p21.1

solute carrier family 35 member B2

Aliases:: UGTrel4
MANE:: ENST00000393812.4

OMIM: 610788 ↗NCBI: 347734 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

SLC35B2 · Q8TB61

v62025-08-01

Predicted Aligned Error matrix for SLC35B2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

80.9/ 100

Confident

432 residues

Confidence breakdown

Very high(≥ 90)40%
Confident(70–90)41%
Low(50–70)10%
Very low(< 50)10%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomal
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

leukodystrophy, hypomyelinating, 26, with chondrodysplasia
0.55
primary bone dysplasia with multiple joint dislocations
0.33
scoliosis
0.25
short stature due to GHSR deficiency
0.25
Abnormality of the skeletal system
0.25
Cerebral atrophy
0.25
Intellectual disability
0.25
Abnormal corpus callosum morphology
0.25
Short long bone
0.25
Short stature
0.25

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

Protein function (UniProt)

Adenosine 3'-phospho 5'-phosphosulfate transporter 1

Probably functions as a 3'-phosphoadenylyl sulfate:adenosine 3',5'-bisphosphate antiporter at the Golgi membranes. Mediates the transport from the cytosol into the lumen of the Golgi of 3'-phosphoadenylyl sulfate/adenosine 3'-phospho 5'-phosphosulfate (PAPS), a universal sulfuryl donor for sulfation events that take place in that compartment