FRMD5

Chr 15q15.3

FERM domain containing 5

Aliases:: MGC14161
MANE:: ENST00000417257.6

OMIM: 616309 ↗NCBI: 84978 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

FRMD5 · Q7Z6J6

v62025-08-01

Predicted Aligned Error matrix for FRMD5 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

74.8/ 100

Confident

570 residues

Confidence breakdown

Very high(≥ 90)48%
Confident(70–90)22%
Low(50–70)4%
Very low(< 50)27%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Ataxia and cerebellar anomalies - narrow panel
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

neurodevelopmental disorder with eye movement abnormalities and ataxia
0.75
neurodegenerative disease
0.33
COVID-19
0.33
benign neoplasm of eye
0.30
Alzheimer disease
0.30
metabolic syndrome
0.29
alcohol drinking
0.24
urolithiasis
0.24
schizophrenia
0.20
hereditary disease
0.19

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

Protein function (UniProt)

FERM domain-containing protein 5

May be involved in regulation of cell migration (PubMed:22846708, PubMed:25448675). May regulate cell-matrix interactions via its interaction with ITGB5 and modifying ITGB5 cytoplasmic tail interactions such as with FERMT2 and TLN1. May regulate ROCK1 kinase activity possibly involved in regulation of actin stress fiber formation (PubMed:25448675)