FOCAD

Chr 9p21.3

focadhesin

Aliases:: FLJ20375
MANE:: ENST00000338382.11

OMIM: 614606 ↗NCBI: 54914 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

FOCAD · Q5VW36

v62025-08-01

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

Mean pLDDT

82.8/ 100

Confident

1,801 residues

Confidence breakdown

Very high(≥ 90)23%
Confident(70–90)66%
Low(50–70)8%
Very low(< 50)3%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Cholestasis
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Paediatric pseudo-obstruction syndrome
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

liver disease, severe congenital
0.66
type 2 diabetes mellitus
0.39
placental abruption
0.38
smoking initiation
0.35
diabetes mellitus
0.34
diverticular disease
0.31
pleural empyema
0.29
pneumothorax
0.29
bone Paget disease
0.29
obesity disorder
0.27

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

Protein function (UniProt)

Focadhesin

Required for the maintenance of SKIC2 and SKIC3 proteostatic levels in the liver. May be involved in the regulation of RNA degradation by the exosome complex (PubMed:35864190). Potential tumor suppressor in gliomas

Curated MONDO disease pages that list FOCAD among their top associated genes.

placental abruptionRare

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Disease associations (Open Targets)

Protein function (UniProt)

Diseases associated with FOCAD