Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	144347
Gene name	Refilin A
Gene symbol	RFLNA
Synonyms (NCBI Gene)	CFM2FAM101A
Chromosome	12
Chromosome location	12q24.31

17 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

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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal. Show/Hide Unknown Diseases (18)
ATRIAL FIBRILLATION	—	GWAS catalog	34594039, 40050429, 40645996	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	38062574	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS	—	GWAS catalog	39024449	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC KETOACIDOSIS	—	GWAS catalog	39024449	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	GWAS catalog	28881265	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL CLUBFOOT WITH OR WITHOUT ASSOCIATED LOWER LIMB ANOMALIES	—	GWAS catalog	24667120	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA	—	GWAS catalog	39024449	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	35835914	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	35026594	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	39349817	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	36810956	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	39024449	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	30374069, 32589924, 40205036	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	GWAS catalog	30374069, 34450027, 36376028, 40205036	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	34450027, 40205036	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESTLESS LEGS SYNDROME	—	GWAS catalog	38839884	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	26198764, 28991256, 30285260, 35396580, 36738649	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	30054458, 30297969, 32541925, 35551307, 36738649, 38062574, 38374256, 38685053, 39024449, 39349817, 39379762	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (7)
Congenital clubfoot	Congenital Clubfoot	GWASDB_DG	24667120	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	30054458	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	GWASCAT_DG	28881265	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29493464	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis of hip	Osteoarthritis Of Hip	GWASCAT_DG	30374069	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASCAT_DG	26198764, 28991256, 30285260	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME	Spondylocarpotarsal Synostosis Syndrome	BEFREE	30796325	★★★★★ ★☆☆☆☆ Found in Text Mining only

RFLNA (refilin A)

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