FRAS1 related extracellular matrix 2
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
Anophthalmia or microphthalmia
BIALLELIC, autosomal or pseudoautosomalCAKUT
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalDeafness and congenital structural abnormalities
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalLimb disorders
BIALLELIC, autosomal or pseudoautosomalStructural eye disease
BIALLELIC, autosomal or pseudoautosomalUnexplained kidney failure in young people
BIALLELIC, autosomal or pseudoautosomal+5 more panels — install the extension to see the full list inline on any page.
Fraser syndrome
isolated cryptophthalmia
hair color
Unilateral renal agenesis
renal agenesis
oculotrichoanal syndrome
polydactyly
eye disorder
renal agenesis, unilateral
complete cryptophthalmia
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
FRAS1-related extracellular matrix protein 2
Extracellular matrix protein required for maintenance of the integrity of the skin epithelium and for maintenance of renal epithelia (PubMed:15838507). Required for epidermal adhesion (PubMed:15838507). Involved in the development of eyelids and the anterior segment of the eyeballs (PubMed:29688405, PubMed:30802441)
Curated MONDO disease pages that list FREM2 among their top associated genes.
FREM2 · Q5SZK8-2isoform
No predicted structure exists for the canonical Q5SZK8 sequence; metrics below describe this isoform.
Mean pLDDT
72.8/ 100
Confident
2,667 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
