FLNC - filamin C Gene
Also Known as ABPA; ABPL; FLN2; MFM5; MPD4; RCM5; CMH26; ABP-280; ABP280A
Species: Homo sapiens
About FLNC
This gene has 3 transcripts (splice variants), 269 orthologues, 36 paralogues and is associated with 9 phenotypes. Biased expression in heart (RPKM 81.4), prostate (RPKM 45.4) and 9 other tissues.
Summary
This gene encodes one of three related filamin genes, specifically gamma filamin. These filamin proteins crosslink actin filaments into orthogonal networks in cortical cytoplasm and participate in the anchoring of membrane proteins for the actin Cytoskeleton. Three functional domains exist in filamin: an N-terminal filamentous actin-binding domain, a C-terminal self-association domain, and a membrane glycoprotein-binding domain. Mutations in this gene are a cause of cardiopathy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2022]
FLNC Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001127487.2 | NP_001120959.1 | filamin-C isoform b |
| NM_001458.5 | NP_001449.3 | filamin-C isoform a |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables ankyrin binding |
IPI
IPI: Inferred from physical interaction
|
21223964 | GOA |
| enables cytoskeletal protein binding |
IPI
IPI: Inferred from physical interaction
|
17987659 | GOA |
| enables identical protein binding |
IPI
IPI: Inferred from physical interaction
|
15642266 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
11038172 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in sarcomere organization |
IMP
IMP: Inferred from mutant phenotype
|
34405687 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
12393796 | GOA |
| located in sarcolemma |
IDA
IDA: Inferred from direct assay
|
21223964 | GOA |
FLNC Protein Structure
CH: Calponin homology (CH) domain (40 - 141)
CH: Calponin homology (CH) domain (163 - 257)
Filamin: Filamin/ABP280 repeat (274 - 365)
Filamin: Filamin/ABP280 repeat (374 - 464)
Filamin: Filamin/ABP280 repeat (472 - 562)
Filamin: Filamin/ABP280 repeat (571 - 654)
Filamin: Filamin/ABP280 repeat (665 - 755)
Filamin: Filamin/ABP280 repeat (762 - 858)
Filamin: Filamin/ABP280 repeat (866 - 956)
Filamin: Filamin/ABP280 repeat (965 - 1052)
Filamin: Filamin/ABP280 repeat (1060 - 1146)
Filamin: Filamin/ABP280 repeat (1153 - 1240)
Filamin: Filamin/ABP280 repeat (1248 - 1341)
Filamin: Filamin/ABP280 repeat (1348 - 1434)
Filamin: Filamin/ABP280 repeat (1441 - 1530)
Filamin: Filamin/ABP280 repeat (1538 - 1627)
Filamin: Filamin/ABP280 repeat (1634 - 1731)
Filamin: Filamin/ABP280 repeat (1795 - 1850)
Filamin: Filamin/ABP280 repeat (1859 - 1943)
Filamin: Filamin/ABP280 repeat (2040 - 2125)
Filamin: Filamin/ABP280 repeat (2238 - 2303)
Filamin: Filamin/ABP280 repeat (2314 - 2397)
Filamin: Filamin/ABP280 repeat (2418 - 2493)
Filamin: Filamin/ABP280 repeat (2503 - 2589)
Filamin: Filamin/ABP280 repeat (2633 - 2721)
- 0
- 500
- 1000
- 1500
- 2000
- 2500
- 2725 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
filamin-C |
|
FLNC Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
FLNC | Q14315 | MYOT | Homo sapiens | Q9UBF9 | 11038172 | |
|
Intra
|
FLNC | Q14315 | MYOT | Homo sapiens | Q9UBF9 | 11038172 | |
|
Intra
|
FLNC | Q14315 | MYOT | Homo sapiens | Q9UBF9 | 11038172 | |
|
Intra
|
FLNC | Q14315 | XIRP1 | Homo sapiens | Q702N8 | 16631741 | |
|
Intra
|
FLNC | Q14315 | CRK | Homo sapiens | P46108 | 17474147 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Myopathy, Distal, 4 |
|
|
| Myopathy, Myofibrillar, 5 |
|
|
| Cardiomyopathy, Familial Hypertrophic, 26 |
|
|
| Familial Isolated Restrictive Cardiomyopathy |
|
|
| Restrictive Cardiomyopathy |
|
|
| Hemifacial Hyperplasia |
|
|
| Myofibrillar Myopathy |
|
|
| Patent Foramen Ovale |
|
|
| Dilated Cardiomyopathy |
|
|
| Spastic Ataxia |
|
|
| Aceruloplasminemia |
|
|
| Heart Conduction Disease |
|
|
| Limb-Girdle Muscular Dystrophy |
|
|
| Cardiac Conduction Defect |
|
|
| Cardiomyopathy, Dilated, 1b |
|
|
| Limb-Girdle Muscular Dystrophy Type 1a |
|
|
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
|
| Myopathy |
|
|
| Boomerang Dysplasia |
|
|
| Myopathy, Myofibrillar, 3 |
|
|
| Inclusion Body Myopathy With Early-Onset Paget Disease Of Bone With Or Without Frontotemporal Dementia 2 |
|
|
| Cardiomyopathy, Familial Restrictive, 2 |
|
|
| Myopathy, Myofibrillar, 2 |
|
|
| Muscular Dystrophy |
|
|
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
|
| Melnick-Needles Syndrome |
|
|
| Myopathy, Myofibrillar, 1 |
|
|
| Myopathy, Myofibrillar, 4 |
|
|
| Myopathy, Spheroid Body |
|
|
| Crab Allergy |
|
|
| Miyoshi Muscular Dystrophy |
|
|
| Atelosteogenesis |
|
|
| Otopalatodigital Syndrome Spectrum Disorder |
|
|
| Autosomal Dominant Limb-Girdle Muscular Dystrophy |
|
|
| Frontometaphyseal Dysplasia |
|
|
| Postural Orthostatic Tachycardia Syndrome |
|
|
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
|
| Tibial Muscular Dystrophy |
|
|
| Myopathy, Centronuclear, 1 |
|
|
| Myopathy, Myofibrillar, 8 |
|
|
| Otopalatodigital Syndrome, Type Ii |
|
|
| Hypertrophic Cardiomyopathy |
|
|
| Scapuloperoneal Myopathy |
|
|
| Myopathy, Myofibrillar, 7 |
|
|
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
|
| Mitochondrial Dna Depletion Syndrome 12b |
|
|
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
|
| Xanthomatosis |
|
|
| Gastric Cancer |
|
|
| Hyaline Body Myopathy |
|
|
| Myopathy, Centronuclear, 5 |
|
|
| Naxos Disease |
|
|
| Cardiac Sarcoidosis |
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a |
|
|
| Larsen Syndrome |
|
|
| Periventricular Nodular Heterotopia |
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j |
|
|
| Congenital Structural Myopathy |
|
|
| Terminal Osseous Dysplasia |
|
|
| Left Ventricular Noncompaction |
|
|
| Palmoplantar Keratoderma, Nonepidermolytic |
|
|
| Intrinsic Cardiomyopathy |
|
|
| Batten-Turner Congenital Myopathy |
|
|
| Familial Woolly Hair Syndrome |
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy |
|
|
| Rigid Spine Muscular Dystrophy 1 |
|
|
| Orthostatic Intolerance |
|
|
| Muscle Tissue Disease |
|
|
| Bethlem Myopathy 1 |
|
|
| Arrhythmogenic Right Ventricular Cardiomyopathy |
|
|
| Congenital Fiber-Type Disproportion |
|
|
| Isolated Elevated Serum Creatine Phosphokinase Levels |
|
|
| Brugada Syndrome |
|
|
| Congenital Myasthenic Syndrome |
|
|
| Amyotrophic Lateral Sclerosis 1 |
|
|
| Neuromuscular Disease |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Macaca mulatta | FLNC | VGNC | VGNC:72673 |
| Felis catus | FLNC | VGNC | VGNC:62293 |
| Rattus norvegicus | FLNC | RGD | RGD:1308807 |
| Mus musculus | FLNC | MGD | MGI:95557 |
| Bos taurus | FLNC | VGNC | VGNC:29035 |
| Canis familiaris | FLNC | VGNC | VGNC:40902 |
| Others | FLNC | NCBI |