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

Gene Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	144347
Gene name Gene Name - the full gene name approved by the HGNC.	Refilin A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	RFLNA
Synonyms (NCBI Gene) Gene synonyms aliases	CFM2, FAM101A
Chromosome Chromosome number	12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	12q24.31

Show/Hide all(17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0031005	Function	Filamin binding	IBA
GO:0031005	Function	Filamin binding	IEA
GO:0032432	Component	Actin filament bundle	IBA
GO:0032432	Component	Actin filament bundle	IEA
GO:0048705	Process	Skeletal system morphogenesis	IBA
GO:0048705	Process	Skeletal system morphogenesis	IEA
GO:0061181	Process	Regulation of chondrocyte development	IEA
GO:0061182	Process	Negative regulation of chondrocyte development	IBA
GO:0061182	Process	Negative regulation of chondrocyte development	IEA
GO:0061572	Process	Actin filament bundle organization	IBA
GO:0061572	Process	Actin filament bundle organization	IEA
GO:0061572	Process	Actin filament bundle organization	IEA
GO:1900158	Process	Negative regulation of bone mineralization involved in bone maturation	IBA
GO:1900158	Process	Negative regulation of bone mineralization involved in bone maturation	IEA

MIM	HGNC	e!Ensembl
615927	27051	ENSG00000178882

Protein

UniProt ID

Q6ZTI6

Protein name

Refilin-A (Regulator of filamin protein A) (RefilinA)

Protein function

Involved in the regulation of the perinuclear actin network and nuclear shape through interaction with filamins. Plays an essential role in actin cytoskeleton formation in developing cartilaginous cells.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF15068	FAM101	1 → 203	FAM101 family	Family

Sequence

MVGHLHLQGMEDSLKEQGREGLLDSPDSGLPPSPSPSPPFYSLAPGILDARAGGAGASSE
PPGPSEARAPPSQLPNPPASEMRPRMLPVFFGESIKVNPEPTHEIRCNSEVKYASEKHFQ
DKVFYAPVPTVTAYSETIVAAPNCTWRNYRSQLTLEPRPRALRFRSTTIIFPKHARSTFR
TTLHCSLGRPSRWFTASVQLQLCQDPAPSLLGPATL

Sequence length

216

Interactions

View interactions

Show/Hide Unknown Diseases (10)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Atrial Fibrillation	Atrial fibrillation	N/A	N/A	GWAS
Diabetes	Type 2 diabetes (adjusted for BMI), Triglyceride levels in non-type 2 diabetes, Type 2 diabetes, Type 2 diabetes with ketoacidosis (PheCode 250.21), Type 2 diabetes mellitus adjusted for BMI or coronary artery disease (pleiotropy), Type 2 diabetes mellitus or coronary artery disease (pleiotropy)	N/A	N/A	GWAS
Endometriosis	Endometriosis	N/A	N/A	GWAS
Glaucoma	Glaucoma	N/A	N/A	GWAS
Insomnia	Insomnia	N/A	N/A	GWAS
Metabolic Syndrome	Metabolic syndrome	N/A	N/A	GWAS
Oligodendroglioma	Oligodendroglioma	N/A	N/A	GWAS
Osteoarthritis Of Hip	Osteoarthritis (hip)	N/A	N/A	GWAS
Restless Legs Syndrome	Restless legs syndrome	N/A	N/A	GWAS
Schizophrenia	Schizophrenia	N/A	N/A	GWAS

Show/Hide Text Mining Associations (3)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Death	Associate	32600304
Neoplasms	Associate	35064017
Spondylocarpotarsal synostosis	Associate	33916386

RFLNA (refilin A)