Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	2483
Gene name	FSHD region gene 1
Gene symbol	FRG1
Synonyms (NCBI Gene)	FRG1AFSG1
Chromosome	4
Chromosome location	4q35.2
Summary	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

Show/Hide all (10)

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
MIRT1004376	hsa-miR-3910	CLIP-seq
MIRT1004377	hsa-miR-4668-3p	CLIP-seq
MIRT1004378	hsa-miR-506	CLIP-seq
MIRT1004379	hsa-miR-548c-3p	CLIP-seq
MIRT1004380	hsa-miR-605	CLIP-seq

Show/Hide all (21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000398	Process	MRNA splicing, via spliceosome	IC	11991638
GO:0003723	Function	RNA binding	HDA	22658674
GO:0003723	Function	RNA binding	IEA
GO:0003779	Function	Actin binding	IEA
GO:0005515	Function	Protein binding	IPI	22365833, 25416956, 32296183
GO:0005634	Component	Nucleus	IEA
GO:0005681	Component	Spliceosomal complex	IEA
GO:0005730	Component	Nucleolus	IBA
GO:0005730	Component	Nucleolus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0006364	Process	RRNA processing	IEA
GO:0006397	Process	MRNA processing	IEA
GO:0007517	Process	Muscle organ development	IEA
GO:0008380	Process	RNA splicing	IEA
GO:0015030	Component	Cajal body	IEA
GO:0030018	Component	Z disc	IEA
GO:0042254	Process	Ribosome biogenesis	IEA
GO:0051015	Function	Actin filament binding	IBA
GO:0055120	Component	Striated muscle dense body	IBA
GO:0071013	Component	Catalytic step 2 spliceosome	IBA
GO:0071013	Component	Catalytic step 2 spliceosome	IDA	11991638

MIM	HGNC	e!Ensembl
601278	3954	ENSG00000109536

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

MAEYSYVKSTKLVLKGTKTKSKKKKSKDKKRKREEDEETQLDIVGIWWTVTNFGEISGTI
AIEMDKGTYIHALDNGLFTLGAPHKEVDEGPSPPEQFTAVKLSDSRIALKSGYGKYLGIN
SDGLVVGRSDAIGPREQWEPVFQNGKMALLASNSCFIRCNEAGDIEAKSKTAGEEEMIKI
RSCAERETKKKDDIPEEDKGNVKQCEINYVKKFQSFQDHKLKISKEDSKILKKARKDGFL
HETLLDRRAKLKADRYCK

Sequence length

258

Interactions

View interactions

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Pulmonary artery atresia	Pathogenic	rs17425208	RCV002510600

Show/Hide Unknown Diseases (15)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Adrenocortical carcinoma, hereditary	not provided	rs770433406	RCV005912204
Cervical cancer	Benign	rs62345291	RCV005937228
CIC-rearranged sarcoma	not provided	rs770433406	RCV000993825
Colon adenocarcinoma	not provided	rs770433406	RCV005912202
Colorectal cancer	not provided	rs770433406	RCV005912205
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	rs73024915	RCV004560280
Familial cancer of breast	Benign; not provided	rs62345291, rs770433406	RCV005937226 RCV005912201
FRG1-related disorder	Likely benign; Benign	rs753051337, rs1061653, rs75112782, rs1430246786, rs62345291	RCV003896972 RCV003974620 RCV003982260 RCV003949596 RCV003982129
Gastric cancer	not provided	rs770433406	RCV005912207
Hepatocellular carcinoma	Benign	rs62345291	RCV005937227
Melanoma	Benign	rs62345291	RCV005937231
Nonpapillary renal cell carcinoma	not provided	rs770433406	RCV005912203
Sarcoma	Benign; not provided	rs62345291, rs770433406	RCV005937230 RCV005912206
Uterine corpus endometrial carcinoma	Benign; not provided	rs62345291, rs770433406	RCV005937232 RCV005912208
Uveal melanoma	Benign	rs62345291	RCV005937229

Show/Hide Text Mining Associations (14)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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
Non Muscle Invasive Bladder Neoplasms	Associate	39817975
Prostatic Neoplasms	Inhibit	30975102
Retinopathy of Prematurity	Associate	40084286
Stomach Neoplasms	Associate	34795329

FRG1 (FSHD region gene 1)