Family

Protein FRG2 (IPR026245)

Short name: FRG2

Family relationships

None.

Description

FRG2, a member of a chromosomally dispersed gene family, has been identified and characterised [PMID: 15520407]. Low levels of FRG2 expression were detectable in differentiating myoblasts of autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) patients, partly from chromosome 4, but originating largely from its homologue on chromosome 10 [PMID: 15520407]. In non-FSHD myopathy patients, only distantly-related FRG2 homologues are transcribed, while differentiating myoblasts from healthy controls do not express any member of this gene family [PMID: 15520407]. The localisation of FRG2 genes close to the D4Z4 repeats on chromosomes 4 and 10, their transcriptional up-regulation in FSHD myoblast cultures, potential involvement in myogenesis, and promoter properties, render FRG2 an attractive candidate for FSHD pathogenesis. Nevertheless, sequence- and motif-based searches have shed no light on the function of the predicted protein [PMID: 15520407].

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
PRINTS
PANTHER
Pfam