BORCS5

Chr 12p13.2

BLOC-1 related complex subunit 5

Aliases:: LOH1CR12
MANE:: ENST00000314565.9

OMIM: 616598 ↗NCBI: 118426 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

BORCS5 · Q969J3

v62025-08-01

Predicted Aligned Error matrix for BORCS5 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

79.7/ 100

Confident

196 residues

Confidence breakdown

Very high(≥ 90)50%
Confident(70–90)16%
Low(50–70)25%
Very low(< 50)10%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis
BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia
BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

hypothyroidism
0.36
arthrogryposis multiplex congenita
0.27
neurodevelopmental disorder
0.27
acne
0.27
microcephaly
0.26
polymicrogyria
0.26
Global developmental delay
0.26
Agenesis of corpus callosum
0.26
Seizure
0.26
Abnormal cerebral cortex morphology
0.26

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

Protein function (UniProt)

BLOC-1-related complex subunit 5

As part of the BORC complex may play a role in lysosomes movement and localization at the cell periphery. Associated with the cytosolic face of lysosomes, the BORC complex may recruit ARL8B and couple lysosomes to microtubule plus-end-directed kinesin motor. Thereby, it may indirectly play a role in cell spreading and motility