Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2483
Gene name Gene Name - the full gene name approved by the HGNC.
FSHD region gene 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FRG1
Synonyms (NCBI Gene) Gene synonyms aliases
FRG1A, FSG1
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q35.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene maps to a location 100 kb centromeric of the repeat units on chromosome 4q35 which are deleted in facioscapulohumeral muscular dystrophy (FSHD). It is evolutionarily conserved and has related sequences on multiple human chromosomes but DNA seque
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT005215 hsa-miR-30a-5p pSILAC 18668040
MIRT023829 hsa-miR-1-3p Proteomics 18668040
MIRT005215 hsa-miR-30a-5p Proteomics;Other 18668040
MIRT1004374 hsa-miR-124 CLIP-seq
MIRT1004375 hsa-miR-3714 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000398 Process MRNA splicing, via spliceosome IC 11991638
GO:0003723 Function RNA binding HDA 22658674
GO:0005515 Function Protein binding IPI 22365833, 25416956, 32296183
GO:0005730 Component Nucleolus IBA 21873635
GO:0006364 Process RRNA processing IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601278 3954 ENSG00000109536
Protein
UniProt ID Q14331
Protein name Protein FRG1 (FSHD region gene 1 protein)
Protein function Binds to mRNA in a sequence-independent manner. May play a role in regulation of pre-mRNA splicing or in the assembly of rRNA into ribosomal subunits. May be involved in mRNA transport. May be involved in epigenetic regulation of muscle differen
PDB 6ZYM , 7A5P , 8I0W
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06229 FRG1 67 256 FRG1-like domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in adult muscle, lymphocytes, fetal brain, muscle, and placenta. Also expressed in the smooth muscle of arteries and veins, the sweat glands and the epidermis. {ECO:0000269|PubMed:20970242}.
Sequence
Sequence length 258
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
External ophthalmoplegia External Ophthalmoplegia rs1569484022
Facioscapulohumeral muscular dystrophy Muscular Dystrophy, Facioscapulohumeral, Facioscapulohumeral muscular dystrophy 1a rs387907319, rs397514623, rs1057519614, rs1598416221, rs886041918, rs886042417, rs1057519644, rs1245372794, rs1555642277, rs1555644339, rs1555647265, rs886044369, rs1568350731, rs377471712, rs2075161300
View all (2 more)
23720823, 23525014, 23300487
Hearing loss Sensorineural Hearing Loss (disorder) rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359
View all (184 more)
Mental retardation Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 30821106
Breast Neoplasms Associate 34795329
Carcinogenesis Associate 34795329, 36521634
Colonic Neoplasms Inhibit 28947680
Fasciculation Associate 19607661
Lung Neoplasms Associate 36653483
Lymphatic Metastasis Associate 36653483
Muscular Dystrophies Associate 36521634
Muscular Dystrophy Facioscapulohumeral Associate 18852887, 19607661, 19809486
Neoplasms Associate 28947680, 34795329