FERMT3

Chr 11q13.1

FERM domain containing kindlin 3

Aliases:: URP2, KIND3, MIG2B, MGC10966, UNC112C
MANE:: ENST00000345728.10

OMIM: 607901 ↗NCBI: 83706 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

FERMT3 · Q86UX7

v62025-08-01

Predicted Aligned Error matrix for FERMT3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

82.9/ 100

Confident

667 residues

Confidence breakdown

Very high(≥ 90)49%
Confident(70–90)33%
Low(50–70)9%
Very low(< 50)9%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Bleeding and platelet disorders
BIALLELIC, autosomal or pseudoautosomal
COVID-19 research
BIALLELIC, autosomal or pseudoautosomal
Inherited bleeding disorders
BIALLELIC, autosomal or pseudoautosomal
Osteopetrosis
BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease
BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

leukocyte adhesion deficiency 3
0.78
Leukocyte adhesion deficiency type III
0.68
leukocyte adhesion deficiency
0.60
lysosomal storage disease
0.23
Alzheimer disease
0.23
Parkinson disease
0.23
neurodegenerative disease
0.23
multiple sclerosis
0.23
hereditary disease
0.19
neoplasm
0.10

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

Protein function (UniProt)

Fermitin family homolog 3

Plays a central role in cell adhesion in hematopoietic cells (PubMed:19234463, PubMed:26359933). Acts by activating the integrin beta-1-3 (ITGB1, ITGB2 and ITGB3) (By similarity). Required for integrin-mediated platelet adhesion and leukocyte adhesion to endothelial cells (PubMed:19234460). Required for activation of integrin beta-2 (ITGB2) in polymorphonuclear granulocytes (PMNs) (By similarity)