FLNA - filamin A Gene

Also Known as FLN; FMD; MNS; OPD; ABPX; CSBS; CVD1; FGS2; FLN1; NHBP; OPD1; OPD2; XLVD; XMVD; FLN-A; ABP-280

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2316

About FLNA

Cytogenetic location: Xq28 Genomic coordinates (GRCh38): X:154,348,531-154,374,634 (from NCBI)

This gene has 21 transcripts (splice variants), 203 orthologues, 36 paralogues and is associated with 114 phenotypes. Broad expression in endometrium (RPKM 345.6), esophagus (RPKM 285.0) and 22 other tissues.

Summary

The protein encoded by this gene is an actin-binding protein that crosslinks actin filaments and links actin filaments to membrane glycoproteins. The encoded protein is involved in remodeling the Cytoskeleton to effect changes in cell shape and migration. This protein interacts with integrins, transmembrane receptor complexes, and second messengers. Defects in this gene are a cause of several syndromes, including periventricular nodular heterotopias (PVNH1, PVNH4), otopalatodigital syndromes (OPD1, OPD2), frontometaphyseal dysplasia (FMD), Melnick-Needles syndrome (MNS), and X-linked congenital idiopathic intestinal pseudoobstruction (CIIPX). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2009]

FLNA Products (2)

mRNA	Protein	Name
NM_001110556.2	NP_001104026.1	filamin-A isoform 2
NM_001456.4	NP_001447.2	filamin-A isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables DNA-binding transcription factor binding	IPI IPI: Inferred from physical interaction	15684392	GOA
enables Fc-gamma receptor I complex binding	IDA IDA: Inferred from direct assay	1833070	GOA
enables G protein-coupled receptor binding	IPI IPI: Inferred from physical interaction	26460884	GOA
enables GTPase binding	IPI IPI: Inferred from physical interaction	16291724	GOA
enables actin filament binding	IDA IDA: Inferred from direct assay	2391361	GOA
enables kinase binding	IPI IPI: Inferred from physical interaction	20713593	GOA
enables potassium channel regulator activity	IDA IDA: Inferred from direct assay	24951510	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	4044584	GOA
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	2391361	GOA
enables small GTPase binding	IDA IDA: Inferred from direct assay	10051605	GOA
enables transmembrane transporter binding	IPI IPI: Inferred from physical interaction	24951510	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in actin crosslink formation	IDA IDA: Inferred from direct assay	10051605	GOA
involved in actin cytoskeleton organization	IDA IDA: Inferred from direct assay	10051605	GOA
involved in adenylate cyclase-inhibiting dopamine receptor signaling pathway	IMP IMP: Inferred from mutant phenotype	10692483	GOA
involved in cilium assembly	IMP IMP: Inferred from mutant phenotype	22121117	GOA
involved in cytoplasmic sequestering of protein	IMP IMP: Inferred from mutant phenotype	17536008	GOA
involved in establishment of protein localization	IDA IDA: Inferred from direct assay	18322202	GOA
acts upstream of or within mitotic spindle assembly	IDA IDA: Inferred from direct assay	18548008	GOA
involved in negative regulation of DNA-binding transcription factor activity	IDA IDA: Inferred from direct assay	15684392	GOA
involved in negative regulation of apoptotic process	IMP IMP: Inferred from mutant phenotype	18177638	GOA
involved in negative regulation of protein catabolic process	IMP IMP: Inferred from mutant phenotype	18322202	GOA
involved in negative regulation of transcription by RNA polymerase I	IDA IDA: Inferred from direct assay	22307607	GOA
involved in positive regulation of integrin-mediated signaling pathway	IMP IMP: Inferred from mutant phenotype	18177638	GOA
involved in positive regulation of potassium ion transmembrane transport	IDA IDA: Inferred from direct assay	24951510	GOA
involved in positive regulation of protein import into nucleus	IMP IMP: Inferred from mutant phenotype	15684392	GOA
involved in positive regulation of substrate adhesion-dependent cell spreading	IMP IMP: Inferred from mutant phenotype	18177638	GOA
involved in protein localization to cell surface	IDA IDA: Inferred from direct assay	18322202	GOA
involved in protein localization to plasma membrane	IDA IDA: Inferred from direct assay	24951510	GOA
involved in protein stabilization	IMP IMP: Inferred from mutant phenotype	18322202	GOA
involved in receptor clustering	IDA IDA: Inferred from direct assay	10692483	GOA
involved in regulation of cell migration	IDA IDA: Inferred from direct assay	16291724	GOA
involved in semaphorin-plexin signaling pathway	IGI IGI: Inferred from genetic interaction	25358863	GOA
involved in tubulin deacetylation	IMP IMP: Inferred from mutant phenotype	26157139	GOA
involved in wound healing, spreading of cells	IDA IDA: Inferred from direct assay	16291724	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of Myb complex	IDA IDA: Inferred from direct assay	18548008	GOA
located in actin cytoskeleton	IDA IDA: Inferred from direct assay	25358863	GOA
located in cell-cell junction	IDA IDA: Inferred from direct assay	16291724	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	15684392	GOA
located in nucleolus	IMP IMP: Inferred from mutant phenotype	22307607	GOA
located in nucleus	IDA IDA: Inferred from direct assay	15684392	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	18322202	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

FLNA Protein Structure

Filamin

0
500
1000
1500
2000
2500
2647 a.a.

Protein Preferred Names	Protein Names
filamin-A	actin binding protein 280

FLNA Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	FLNA	P21333	FOXC1	Homo sapiens	Q12948	IF	15684392
Intra	FLNA	P21333	FOXC1	Homo sapiens	Q12948	Anti Bait CoIP	15684392
Intra	FLNA	P21333	FOXC1	Homo sapiens	Q12948	Pull Down	15684392
Intra	FLNA	P21333	FOXC1	Homo sapiens	Q12948	Anti Tag CoIP	15684392
Intra	FLNA	P21333	NRP1	Homo sapiens	O14786	SPR	24021649
Intra	FLNA	P21333	ITGA2B	Homo sapiens	P08514-1	NMR	25849143
Intra	FLNA	P21333	ITGA2B	Homo sapiens	P08514-1	SPR	25849143
Intra	FLNA	P21333	ITGB7	Homo sapiens	P26010-1	Pull Down	21926999
Intra	FLNA	P21333	ITGB7	Homo sapiens	P26010-1	Anti Tag CoIP	21926999
Intra	FLNA	P21333	SHANK3	Homo sapiens	Q9BYB0	Y2H Pooling	21653829
Intra	FLNA	P21333	SHANK3	Homo sapiens	Q9BYB0	Anti Tag CoIP	21653829
Intra	FLNA	P21333	OPRM1	Homo sapiens	P35372	Y2H	14573758
Intra	FLNA	P21333	OPRM1	Homo sapiens	P35372	Confocal	14573758
Intra	FLNA	P21333	PHLDB2	Homo sapiens	Q86SQ0	Anti Tag CoIP	26496610
Intra	FLNA	P21333	FLNB	Homo sapiens	O75369	Y2H	12393796
Intra	FLNA	P21333	CCNB2	Homo sapiens	O95067	Pull Down	17408621
Intra	FLNA	P21333	CCNB2	Homo sapiens	O95067	Anti Bait CoIP	17408621
Intra	FLNA	P21333	CCNB2	Homo sapiens	O95067	Protein Kinase Assay	17408621
Intra	FLNA	P21333	CCNB2	Homo sapiens	O95067	Imaging	17408621
Intra	FLNA	P21333	CCNB2	Homo sapiens	O95067	Far-WB	17408621
Intra	FLNA	P21333	GRB2	Homo sapiens	P62993	Peptide Array	17474147
Intra	FLNA	P21333	ITGB3	Homo sapiens	P05106	NMR	25849143
Intra	FLNA	P21333	ITGB7	Homo sapiens	P26010	Saturation Binding	17690686
Intra	FLNA	P21333	ITGB7	Homo sapiens	P26010	Filter Binding	17690686
Intra	FLNA	P21333	ITGB7	Homo sapiens	P26010	Pull Down	15225631
Intra	FLNA	P21333	ITGB1	Homo sapiens	P05556	Pull Down	15225631
Intra	FLNA	P21333	ITGB1	Homo sapiens	P05556	Anti Bait CoIP	9722563
Intra	FLNA	P21333	ITGB1	Homo sapiens	P05556	IF	18177638
Intra	FLNA	P21333	FXR1	Homo sapiens	P51114	Anti Tag CoIP	21653829
Intra	FLNA	P21333	FXR1	Homo sapiens	P51114	Y2H Pooling	21653829
Intra	FLNA	P21333	ARHGAP24	Homo sapiens	Q8N264	Pull Down	16862148
Intra	FLNA	P21333	ARHGAP24	Homo sapiens	Q8N264	Anti Tag CoIP	16862148
Cross	FLNA	P21333	ITGB1	Gallus gallus	P07228	ELISA	9722563
Cross	FLNA	P21333	ITGB1	Gallus gallus	P07228	Y2H	9722563
Cross	FLNA	P21333	Q9WMX2-PRO_0000037548	Hepatitis C virus	Q9WMX2-PRO_0000037548	Anti Bait CoIP	21914078
Cross	FLNA	P21333	Q9WMX2-PRO_0000037548	Hepatitis C virus	Q9WMX2-PRO_0000037548	Confocal	21914078
Cross	FLNA	P21333	Q9WMX2-PRO_0000037551	Hepatitis C virus	Q9WMX2-PRO_0000037551	Confocal	21914078
Cross	FLNA	P21333	Q9WMX2-PRO_0000037551	Hepatitis C virus	Q9WMX2-PRO_0000037551	Anti Bait CoIP	21914078

Cross: Cross-species interaction Intra: Intraspecies interaction

FLNA Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P80129	Filamin A Antibody (YA435)	WB, ICC/IF, IHC-P, FC	Human, Mouse
HY-P86490	Filamin A Antibody (YA6182)	WB, IHC-P, ICC/IF, IP, ELISA	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Melnick-Needles Syndrome	MNS Melnick-Needles Osteodysplasty Osteodysplasty Of Melnick And Needles Osteochondrodysplasias
Cardiac Valvular Dysplasia, X-Linked	Xmvd X-Linked Cardiac Valvular Dysplasia CVD1 Filamin A-Related X-Linked Myxomatous Valvular Dysplasia Flna-Related Valvular Dystrophy Flna-Related X-Linked Myxomatous Valvular Dysplasia Valvular Heart Disease, Congenital Myxomatous Valvular Dystrophy, X-Linked Congenital Valvular Heart Disease X-Linked Myxomatous Valvular Dystrophy CVDPX Ehlers-Danlos Syndrome, Type V, Formerly Eds5, Formerly Dystrophie Valvulaire Associee A Flna Eds 5 Ehlers-Danlos Syndrome, Type 5 Dystrophie Valvulaire Associée À Flna Filamin-A-Associated Myxomatous Mitral Valve Disease Filamin-A-Related Myxomatous Mitral Valve Dystrophy Congenital Valvular Dysplasia Cvdx Ehlers-Danlos Syndrome Type 5
Otopalatodigital Syndrome, Type Ii	Otopalatodigital Syndrome Type 2 Faciopalatoosseous Syndrome OPD2 Opd Ii Syndrome Opd Syndrome 2 Cranioorodigital Syndrome Fpo Oto-Palato-Digital Syndrome, Type Ii Andre Syndrome Oto-Palato-Digital Syndrome Type 2 Otopalatodigital Syndrome Type Ii Cranio-Oro-Digital Syndrome Opd 2 Syndrome Opd Syndrome, Type 2 Taybi Syndrome Otopalatodigital Syndrome 2 Oto-Palato-Digital Syndrome, Type 2 Oto-Palato-Digital Syndrome Type 1
Otopalatodigital Syndrome, Type I	Otopalatodigital Syndrome Type 1 Taybi Syndrome OPD1 Opd Syndrome 1 Oto-Palato-Digital Syndrome Type 1 Opd I Syndrome Oto-Palato-Digital Syndrome, Type I Otopalatodigital Syndrome Type I Opd Syndrome Cranioorodigital Syndrome Faciopalatoosseous Syndrome Fpo Opd Syndrome, Type 1 Otopalatodigital Syndrome 1
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Congenital Idiopathic Intestinal Pseudoobstruction IPOX Ciip Ciipx Intestinal Pseudoobstruction, Neuronal Congenital Short Bowel Syndrome, X-Linked Ciip X-Linked Neuronal Intestinal Pseudoobstruction Ciip, X-Linked Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, With Central Nervous System Involvement Congenital Short Bowel Syndrome Intestinal Pseudoobstruction Neuronal Chronic Idiopathic X-Linked CSBSX Intestinal Pseudo-Obstruction
Fg Syndrome 2	FGS2 Fg Syndrome, Type 2
Terminal Osseous Dysplasia	Terminal Osseous Dysplasia And Pigmentary Defects Terminal Osseous Dysplasia-Pigmentary Defects Syndrome Todpd TOD Odpd Odpf Syndrome Osseous Dysplasia, Digital, With Facial Pigmentary Defects And Multiple Frenula Odpf Digital Osseous Dysplasia With Facial Pigmentary Defects And Multiple Frenula Terminal Osseous Dysplasia With Pigmentary Defects Dcd Digitocutaneous Dysplasia Terminal Osseous Dysplasia And Pigmentary Defect Syndrome Osseous Dysplasia And Pigmentary Defects
Periventricular Nodular Heterotopia 1	PVNH1 Heterotopia, Periventricular, X-Linked Dominant Nhbp Heterotopia, Periventricular, Ehlers-Danlos Variant Bpnh Nodular Heterotopia Bilateral Periventricular Heterotopia, Familial Nodular Nodular Heterotopia, Bilateral Periventricular Periventricular Nodular Heterotopia 4, Formerly Pvnh4, Formerly Heterotopia, Periventricular, 1 X-Linked Periventricular Heterotopia Bilateral Periventricular Nodular Heterotopia Heterotopia Familial Nodular Heterotopia Periventricular X-Linked Dominant Familial Nodular Heterotopia Periventricular Heterotopia Ehlers-Danlos Variant Periventricular Heterotopia X-Linked Dominant Periventricular Nodular Heterotopia 4 Pvnh4 Heterotopia, Periventricular, Type 1 Periventricular Heterotopia, X-Linked
Frontometaphyseal Dysplasia 1	FMD1 Fmd
Frontometaphyseal Dysplasia	Fmd Dysplasia, Frontometaphyseal
Patent Ductus Arteriosus 1	Patent Ductus Arteriosus PDA1 Pda Ductus Arteriosus, Patent Patent Ductus Arteriosus, Susceptibility To Patent Ductus Botalli Patency Of The Ductus Arteriosus Patent Ductus Arteriosus Familial Ductus Arteriosus Patent Patent Ductus Arteriosus - Persisting Type
Periventricular Nodular Heterotopia	Periventricular Heterotopia Pvnh Familial Nodular Heterotopia Heterotopia, Periventricular Periventricular Heterotopia, X-Linked
Oto-Palatal-Digital Syndrome	Type 2 Oto-Palato-Digital Syndrome Type 1
Otopalatodigital Syndrome Spectrum Disorder	Opd Spectrum Disorder Opsd Fronto-Otopalatodigital Osteodysplasia
X-Linked Keloid Scarring-Reduced Joint Mobility-Increased Optic Cup-To-Disc Ratio Syndrome
X-Linked Ehlers-Danlos Syndrome	Eds V Ehlers-Danlos Syndrome Type 5 X-Linked Eds
Migraine With Aura	Classic Migraine Migraine With Typical Aura Migraine Accompagnée Complicated Migraine Classical Migraine Acute Migraine With Aura
Congenital Short Bowel Syndrome	CSBS Congenital Short Bowel Congenital Short Bowel And Malrotation Syndrome Csbm Bowel, Short, Syndrome, Congenital Intestinal Pseudo-Obstruction
Patent Foramen Ovale	Atrial Septal Defect Within Oval Fossa Foramen Ovale Patent Ostium Secundum Atrial Septal Defect Atrial Septal Defect, Ostium Secundum Type Foramen Ovale, Patent Defect, Patent Or Persistent, Ostium Secundum Ostium Secundum Type Atrial Septal Defect Persistent Ostium Secundum Asd Ostium Secundum Type Ostium Secundum Asd Osasd Asd, Ostium Secundum Type Pfo - [Patent Foramen Ovale] Open Foramen Ovale Open Oval Foramen Persistent Foramen Ovale Secundum Atrial Septal Defect
Cleft Palate, Isolated	Cleft Palate Isolated Cleft Palate CPI Cp Palatoschisis Cleft Palate Isolated Uranostaphyloschisis Congenital Fissure Of Palate Cleft Of Secondary Palate
Prune Belly Syndrome	Eagle-Barrett Syndrome Abdominal Muscle Deficiency Syndrome PBS Abdominal Muscles, Absence Of, With Urinary Tract Abnormality And Cryptorchidism Egbrs Eagle-Barret Syndrome Urethral Obstruction Sequence Obrinsky Syndrome Triad Syndrome Obrisnksy Syndrome Euos Early Urethral Obstruction Sequence Renal Dysplasia Or Hydronephrosis, Oligohydramnios And Subsequent Lung Hypoplasia Due To Urethral Obstruction Absence Of Abdominal Muscles With Urinary Tract Abnormality And Cryptorchidism Abdomen Muscle Deficiency Syndrome Abdomen Muscular Deficiency Syndrome Abdominal Muscular Deficiency Syndrome Abdominal Muscle Aplasia Syndrome
Arterial Tortuosity Syndrome	Arterial Tortuosity Ats ATORS Tortuosity, Arterial, Syndrome
Fanconi Anemia, Complementation Group C	Fanconi Anemia Complementation Group C FANCC Facc Fac Fa3 Fanconi Pancytopenia Type 3 Fanconi Pancytopenia, Type 3 Faces Syndrome Facial Features , Anorexia, Cachexia, Eye And Skin Anomalies Friedman-Goodman Syndrome Abnormality Of The Face
Short Bowel Syndrome	Short Gut Syndrome Acquired Short Bowel Syndrome Secondary Short Bowel Syndrome Short Bowel Nos
Omphalocele	Omphalocoele Congenital Omphalocele Exomphalos Exumbilication
Constipation
X-Linked Chronic Idiopathic Intestinal Pseudo-Obstruction
Ebstein Anomaly	Ebstein'S Anomaly Ebstein'S Anomaly Of Common Atrioventricular Valve Ebstein'S Anomaly Of Right Atrioventricular Valve Ebstein'S Anomaly Of Tricuspid Valve Ebstein'S Malformation Ebstein Malformation Of The Tricuspid Valve Ebstein Anomaly Of The Tricuspid Valve Ebstein Disease Accessory Tricuspid Valve Tissue Congenital Ebstein Deformity Of Tricuspid Valve Ebstein Syndrome Ebstein Cardiopathy Ebstein Anomaly Of Tricuspid Valve
Intestinal Pseudo-Obstruction	Chronic Intestinal Pseudoobstruction Chronic Intestinal Pseudo-Obstruction Cipo Neuronal Intestinal Dysplasia Hollow Visceral Myopathy Familial Visceral Neuropathy Paralytic Ileus Intestinal Pseudoobstruction Chronic Idiopathic Intestinal Pseudo-Obstruction Ciip Congenital Short Bowel Syndrome Enteric Neuropathy Familial Visceral Myopathy Ipo Pseudo-Obstruction Of Intestine Pseudointestinal Obstruction Syndrome Pseudoobstructive Syndrome Congenital Idiopathic Intestinal Pseudoobstruction Visceral Myopathy, Familial
Ehlers-Danlos Syndrome	Eds Cutis Hyperelastica Elastic Skin Ehlers-Danlos Syndromes Ed Syndrome Ehlers Danlos Syndrome Ehlers Danlos Disease Eds - [Ehlers-Danlos Syndrome]
Myopathy, Myofibrillar, 5	Myofibrillar Myopathy 5 MFM5 Myopathy, Myofibrillar, Filamin C-Related Filaminopathy, Autosomal Dominant Filaminopathy Muscle Filaminopathy Autosomal Dominant Filaminopathy Mfm Filamin C-Related Myopathy Myofibrillar Filamin C-Related Myopathy, Myofibrillar, Type 5
Bleeding Disorder, Platelet-Type, 19	Platelet-Type Bleeding Disorder 19 BDPLT19 Severe Autosomal Recessive Macrothrombocytopenia Bleeding Disorder, Platelet Type 19
Boomerang Dysplasia	BOOMD Boomerang-Like Skeletal Dysplasia Dwarfism With Short, Bowed, Rigid Limbs And Characteristic Facies Piepkorn Dysplasia Dysplasia, Boomerang
Exophthalmos	Proptosis
Hydrocephalus	Hydrocephalus, Nonsyndromic, Autosomal Recessive Hydrocephalus, X-Linked Hydrocephalus Adverse Event Hydrocephaly Nos
West Syndrome	Infantile Spasms Infantile Spasms Syndrome Infantile Spasm X-Linked Infantile Spasm Syndrome X-Linked Infantile Spasms Epileptic Encephalopathy, Early Infantile, 1 Is Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg West'S Syndrome Spasms, Infantile Is -[Infantile Spasm] Salaam Spasm Salaam Tic
Intestinal Obstruction	Inspissated Milk Syndrome Milk Curd Syndrome
Osteochondrodysplasia	Skeletal Dysplasia Chondrodystrophy Congenital Anomaly Of Cartilage Osteochondrodysplasias Cartilage Development Disorder Osteochondrodysplasia Syndrome Dysplasia, Skeletal Mucopolysaccharidosis Iv
Syphilitic Encephalitis
Aortic Valve Disease 1	Aortic Valve Disease Bicuspid Aortic Valve Aortic Valve Disorder AOVD1 Bav Bicuspid Aortic Valve Disease Familial Bicuspid Aortic Valve Aortic Valve Calcification Aovd Aortic Valve, Bicuspid Aortic Valve, Calcification Of Aortic Stenosis, Calcific Familial Bav Calcific Aortic Stenosis Calcification Of Aortic Valve Abnormality Of The Aortic Valve Aortic Valve Disease, Type 1 Aortic Valve Disease 2 Bicommissural Aortic Valve
Polymicrogyria, Bilateral Perisylvian, X-Linked	Bilateral Perisylvian Polymicrogyria Polymicrogyria, Bilateral Perisylvian Pmgx Perisylvian Syndrome, Congenital Bilateral Cbps Congenital Bilateral Perisylvian Syndrome Perisylvian Syndrome BPPX Bpp
Dyslexia
Aicardi Syndrome	AIC Corpus Callosum, Agenesis Of, With Chorioretinal Abnormality Agenesis Of Corpus Callosum With Chorioretinal Abnormality Aicardi'S Syndrome Agenesis Of Corpus Callosum With Infantile Spasms And Ocular Abnormalities Callosal Agenesis And Ocular Abnormalities Chorioretinal Anomalies With Acc
Band Heterotopia	Subcortical Band Heterotopia Double Cortex Syndrome Subcortical Laminar Heterotopia Double Cortex Band Heterotopia Of Brain BH Heco Heterotopic Cortex Familial Band Heterotopia Dc Dc Syndrome Heterotopia, Subcortical Band Sbh Sclh Bhy
Atelosteogenesis	Atelosteogenesis, Type 1
Mitral Valve Disease	Chronic Rheumatic Mitral Valve Rheumatic Mitral Insufficiency Disease Of Mitral Valve Mitral Rh Valve Dis. Rheumatic Disease Of Mitral Valve Rheumatic Mitral Valve Changes Rheumatic Mitral Valve Incompetence Rheumatic Mitral Valve Regurgitation Abnormality Of The Mitral Valve Diseases Of Mitral Valve Rheumatic Mitral Regurgitation
Epilepsy	Epilepsy Syndrome Epileptic Syndrome Epilepsies Symptomatic Epilepsies Post Traumatic Epilepsy Traumatic Epilepsy Traumatic Epileptic Epilepsy Due To Hippocampal Sclerosis Epilepsy With Ammon'S Horn Sclerosis Epilepsy Due To Cortical Dysplasia Epilepsy Due To Neuronal Migration Disorders
Tetralogy Of Fallot	TOF Fallot Tetralogy Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle Tetrad Of Fallot Fallot Tetrad Fallot Disease Fallot Complex Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle Interventricular Septal Defect, In Tetralogy Of Fallot Ventricular Septal Defect With Obstructed Right Ventricular Outflow Tof - [Tetralogy Of Fallot] Pulmonary Atresia With Ventricular Septal Defect [Fallot Type] Pulmonary Atresia, Ventricular Septal Defect And Mapcas Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]
Tricuspid Valve Prolapse
Bone Disease	Bone Diseases Skeletal Disease Skeletal Disorder Disorder Of Skeletal System
Hyperostosis	Hypertrophy Of Bone Bone Hypertrophy Bone Thickening Periosteum Thickening
Orthostatic Intolerance	Mitral Valve Prolapse Neurocirculatory Asthenia Mitral Valve Prolapse Syndrome Irritable Heart Systolic Click-Murmur Syndrome Soldiers Heart Cardiovascular Malfunction Arising From Mental Factors Cardiovascular Neurosis Da Costa'S Syndrome Krishaber'S Disease Barlow'S Syndrome Floppy Mitral Valve Mitral Leaflet Syndrome Myxomatous Mitral Valve Prolapse Postural Orthostatic Tachycardia Syndrome Due To Net Deficiency Familial Orthostatic Tachycardia Due To Norepinephrine Transporter Deficiency Orthostatic Intolerance Due To Net Deficiency Pots Due To Net Deficiency OI Intolerance, Orthostatic Mitral Valve Prolapse, Familial, X-Linked Ballooning Mitral Valve Barlow Syndrome Flail Mitral Leaflet Myxomatous Mitral Valve Mitral Valve Prolapse-Click Syndrome Prolapsing Mitral Valve Leaflet Syndrome Billowing Mitral Valve Leaflet Posterior Mitral Leaflet Deformity Ballooning Posterior Leaflet Syndrome Blue Valve Syndrome Floppy Mitral Valve Syndrome Mitral Valvular Prolapse Systolic Click Syndrome
Larsen Syndrome	LRS Larsen Syndrome, Dominant Type Dominant Larsen Syndrome Autosomal Dominant Larsen Syndrome Larsens Syndrome
Opitz-Kaveggia Syndrome	Fg Syndrome Fgs1 Fgs Keller Syndrome OKS Fg Syndrome 1 Fg Syndrome Type 1 Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of Corpus Callosum Intellectual Disability, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of Corpus Callosum Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of The Corpus Callosum
Frank-Ter Haar Syndrome	Ter Haar Syndrome Borrone Dermatocardioskeletal Syndrome FTHS Autosomal Recessive Melnick-Needles Syndrome Borrone Di Rocco Crovato Syndrome Megalocornea, Multiple Skeletal Anomalies, And Developmental Delay Melnick-Needles Syndrome, Autosomal Recessive, Formerly Frank Ter Haar Syndrome
Peters-Plus Syndrome	Krause-Kivlin Syndrome Peters Plus Syndrome Peters Anomaly Irido-Corneo-Trabecular Dysgenesis PTRPLS Peters Anomaly With Short-Limb Dwarfism Peters Anomaly-Short Limb Dwarfism Syndrome Peters Anomaly With Short Limb Dwarfism Peters Congenital Glaucoma Krause-Van Schooneveld-Kivlin Syndrome Peters' Plus Syndrome Peters'-Plus Syndrome Anomaly Peters
Stickler Syndrome, Type I	Stickler Syndrome 1 Stickler Syndrome Type 1 STL1 Aom Stickler Syndrome, Type 1 Stickler Syndrome, Vitreous Type 1 Stickler Syndrome, Membranous Vitreous Type Arthroophthalmopathy, Hereditary Progressive Arthro-Ophthalmopathy Hereditary Progressive Stickler Syndrome Membranous Vitreous Type Stickler Syndrome Type I Stickler Syndrome Vitreous Type 1
Heart Disease	Heart Failure Congenital Heart Disease Heart Diseases Congenital Heart Defects Congenital Heart Defect Heart Malformation Congenital Anomaly Of Heart Heart Defect Heart-Congenital Defect Congenital Heart Disorder Heart Defects Congenital Heart Defects, Congenital Heart Defects Heart Disease, Congenital Disease, Heart, Congenital Congestive Heart Failure
Myofibrillar Myopathy	Desmin Related Myopathy Myotilinopathy Myopathy, Myofibrillar Alpha Beta Crystallinopathy Desmin Storage Myopathy Desminopathy Filaminopathy Protein Surplus Myopathy Zaspopathy Myofibrillar Myopathies Myopathy, Myofibrillar, Desmin-Related Myopathy, Desmin Storage Mfm - [Myofibrillar Myopathy]
Loeys-Dietz Syndrome	Loeys-Dietz Aortic Aneurysm Syndrome Lds Aortic Aneurysm Syndrome Due To Tgf-Beta Receptors Anomalies Furlong Syndrome
Bernard-Soulier Syndrome	Giant Platelet Syndrome BSS Von Willebrand Factor Receptor Deficiency Bdplt1 Platelet Glycoprotein Ib Deficiency Bernard-Soulier Syndrome, Type A1 Bernard-Soulier Syndrome, Type B Bernard Soulier Syndrome Deficiency Of Platelet Glycoprotein 1b Hemorrhagiparous Thrombocytic Dystrophy Bernard-Soulier Syndrome Type C Bleeding Disorder, Platelet-Type, 1 Glycoprotein Ib, Platelet, Deficiency Of Giant Platelet Disorder, Isolated Giant Platelet Disease Macrothrombocytopenia, Familial Bernard-Soulier Type Bernard-Soulier Syndrome, Type C Bernard - Soulier Thrombopathy Hemorrhagic Dystrophic Thrombocytopenia Thrombopathy, Bernard-Soulier Platelet Glycoprotein 1b, Deficiency Of Hemorrhagioparous Thrombocytic Dystrophy Bernard-Soulier Syndrome Type A1 Bernard-Soulier Syndrome Type B Bleeding Disorder Platelet-Type 1 Gpd Macrothrombocytopenia, Familial, Bernard-Soulier Type
Melanoma	Malignant Melanoma Cutaneous Melanoma Naevocarcinoma Malignant Melanomas
Tracheal Stenosis	Stenosis Of Trachea
Miller-Dieker Lissencephaly Syndrome	Miller-Dieker Syndrome Mds MDLS Miller Dieker Syndrome Classical Lissencephaly Syndrome Lissencephaly Due To 17p13.3 Deletion Monosomy 17p13.3 Telomeric Deletion 17p Classical Lissencephaly
Thrombocytopenia	Low Platelet Count Low Platelets Decreased Platelets Platelet Dysfunction Nos
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1	Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome Berdon Syndrome MMIHS Megacystis Microcolon Intestinal Hypoperistalsis Syndrome Megacystis, Microcolon, Hypoperistalsis Syndrome Visceral Myopathy Mmih Syndrome Megacystis-Microcolon-Intestinal Hypoperistalsis-Hydronephrosis Syndrome MMIHS1 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome, Mmih Mmhs
Chromosome 2q35 Duplication Syndrome	Syndactyly Syndactyly Type 1 Sdty1 Zygodactyly Syndactyly, Type I Sd1 Syndactyly, Type 1, With Or Without Craniosynostosis Symphalangism Non-Syndromic Syndactyly Symphalangy Webbing Of Digits Syndactyly, Type 1
Polymicrogyria	Pmg
Physical Disorder	Physical Illness
Aortic Aneurysm, Familial Thoracic 1	Thoracic Aortic Aneurysm Annuloaortic Ectasia Familial Thoracic Aortic Aneurysm And Aortic Dissection Familial Aortic Dissection Familial Taad Familial Thoracic Aortic Aneurysm Congenital Aneurysm Of Ascending Aorta Familial Aortic Aneurysm Familial Thoracic Aortic Aneurysm And Dissection Aortic Aneurysm, Thoracic AAT1 Faa1 Aortic Dissection, Familial Aortic Aneurysm, Familial Thoracic Aneurysm, Thoracic Aortic Faa Ftaad Taa Taad Cystic Medial Necrosis Of Aorta Familial Non-Syndromic Thoracic Aortic Aneurysm And Aortic Dissection Aortic Aneurysm Thoracic Familial Aortic Aneurysms Aneurysm, Aortic, Thoracic, Familial, Type 1 Aneurysm Of Thoracic Aorta Intrathoracic Aneurysm Thoracic Aorta Aneurysm Thoracic Aortic Aneurysm Without Rupture Thoracic Aneurysm Thorax Arterial Aneurysm Thoracic Artery Aneurysm Thoracic Arterial Aneurysm Thorax Aneurysm Thorax Aortic Aneurysm Dissection Of Thoracic Aorta
Prostate Cancer	Prostate Carcinoma Prostate Cancer, Familial Prostate Neoplasm Prostate Cancer, Somatic Prostate Cancer, Susceptibility To Prostatic Cancer Prostatic Neoplasms Hereditary Prostate Cancer Prostatic Neoplasm Cancer Of Prostate Carcinoma Of Prostate Familial Prostate Cancer Familial Prostate Carcinoma Malignant Tumor Of Prostate Malignant Neoplasm Of Prostate Prostate Cancer, Familial, Susceptibility To Malignant Tumor Of The Prostate Ngp - New Growth Of Prostate Tumor Of The Prostate Prostate Cancer, Hereditary Cancer Of The Prostate Malignant Neoplasm Of The Prostate Prostatic Carcinoma PC Prca Cancer, Prostate Malignant Prostatic Tumour Malignant Tumour Of Prostate Primary Prostate Cancer Primary Malignant Neoplasm Of Prostate Prostate Gland Cancer
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Atrial Heart Septal Defect	Atrial Septal Defect Atrial Septal Defects Atrioseptal Defect Auricular Septal Defect Congenital Atrial Septal Defect Interatrial Septal Defect Interauricular Septal Defect Heart Septal Defects, Atrial Septal Defect, Atrial
Orofacial Cleft	Cleft, Orofacial

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Clinical Phase
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Purity	Phase
HY-139142B	Simufilam hydrochloride	99.85%	Phase 3
HY-139142	Simufilam	99.78%	Phase 3
HY-139142A	Simufilam dihydrochloride	/	Phase 3

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04979	FLNA Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18476	Flna Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24957	Flna Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	FLNA	VGNC	VGNC:72671
Bos taurus	FLNA	VGNC	VGNC:29033
Canis familiaris	FLNA	VGNC	VGNC:40900
Mus musculus	FLNA	MGD	MGI:95556
Rattus norvegicus	FLNA	RGD	RGD:1560614
Felis catus	FLNA	VGNC	VGNC:62291
Others	FLNA	NCBI