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FLNC filamin C, gamma [ Homo sapiens (human) ]

Gene ID: 2318, updated on 12-Apr-2014
Official Symbol
FLNCprovided by HGNC
Official Full Name
filamin C, gammaprovided by HGNC
Primary source
HGNC:3756
See related
Ensembl:ENSG00000128591; HPRD:00018; MIM:102565; Vega:OTTHUMG00000023627
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ABPA; ABPL; FLN2; MFM5; MPD4; ABP-280; ABP280A
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. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Location :
7q32-q35
Sequence :
Chromosome: 7; NC_000007.14 (128830382..128859274)
See FLNC in Epigenomics, MapViewer

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene transfer RNA proline 15 (anticodon AGG) Neighboring gene coiled-coil domain containing 136 Neighboring gene uncharacterized LOC100130705 Neighboring gene ATPase, H+ transporting, lysosomal 14kDa, V1 subunit F

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env HIV-1 gp120 promotes filamin binding to both CD4 and CXCR4 PubMed
pol gag-pol A number of focal adhesion plaque proteins are specifically cleaved by HIV-1 protease, including fimbrin, focal adhesion plaque kinase (FAK), talin, and, to a lesser extent, filamin, spectrin and fibronectin PubMed

Go to the HIV-1, Human Protein Interaction Database

  • Cell junction organization, organism-specific biosystem (from REACTOME)
    Cell junction organization, organism-specific biosystem
    Cell junction organization
  • Cell-Cell communication, organism-specific biosystem (from REACTOME)
    Cell-Cell communication, organism-specific biosystemCell-to-Cell communication is crucial for multicellular organisms because it allows organisms to coordinate the activity of their cells. Some cell-to-cell communication requires direct cell-cell cont...
  • Cell-extracellular matrix interactions, organism-specific biosystem (from REACTOME)
    Cell-extracellular matrix interactions, organism-specific biosystemCellâ??extracellular matrix (ECM) interactions play a critical role in regulating a variety of cellular processes in multicellular organisms including motility, shape change, survival, proliferation ...
  • Focal adhesion, organism-specific biosystem (from KEGG)
    Focal adhesion, organism-specific biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
  • Focal adhesion, conserved biosystem (from KEGG)
    Focal adhesion, conserved biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
  • MAPK signaling pathway, organism-specific biosystem (from KEGG)
    MAPK signaling pathway, organism-specific biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
  • MAPK signaling pathway, conserved biosystem (from KEGG)
    MAPK signaling pathway, conserved biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
  • Proteoglycans in cancer, organism-specific biosystem (from KEGG)
    Proteoglycans in cancer, organism-specific biosystemMany proteoglycans (PGs) in the tumor microenvironment have been shown to be key macromolecules that contribute to biology of various types of cancer including proliferation, adhesion, angiogenesis a...
  • Proteoglycans in cancer, conserved biosystem (from KEGG)
    Proteoglycans in cancer, conserved biosystemMany proteoglycans (PGs) in the tumor microenvironment have been shown to be key macromolecules that contribute to biology of various types of cancer including proliferation, adhesion, angiogenesis a...
  • Salmonella infection, organism-specific biosystem (from KEGG)
    Salmonella infection, organism-specific biosystemSalmonella infection usually presents as a self-limiting gastroenteritis or the more severe typhoid fever and bacteremia. The common disease-causing Salmonella species in human is a single species, S...
  • Salmonella infection, conserved biosystem (from KEGG)
    Salmonella infection, conserved biosystemSalmonella infection usually presents as a self-limiting gastroenteritis or the more severe typhoid fever and bacteremia. The common disease-causing Salmonella species in human is a single species, S...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
actin binding IEA
Inferred from Electronic Annotation
more info
 
ankyrin binding IPI
Inferred from Physical Interaction
more info
 
cytoskeletal protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cell junction assembly TAS
Traceable Author Statement
more info
 
muscle fiber development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Z disc IEA
Inferred from Electronic Annotation
more info
 
costamere TAS
Traceable Author Statement
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
 
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
cytosol TAS
Traceable Author Statement
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
 
sarcolemma IDA
Inferred from Direct Assay
more info
 
sarcoplasm IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
filamin-C
Names
filamin-C
FLN-C
filamin 2
filamin-2
ABP-280-like protein
ABP-L, gamma filamin
actin binding protein 280
actin-binding-like protein

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011807.1 RefSeqGene

    Range
    5001..33846
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001127487.1NP_001120959.1  filamin-C isoform b

    See proteins identical to NP_001120959.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
    Source sequence(s)
    AB208865, AF089841, AF146692, AJ012737
    Consensus CDS
    CCDS47705.1
    UniProtKB/Swiss-Prot
    Q14315
    UniProtKB/TrEMBL
    Q59H94
    Related
    ENSP00000344002, OTTHUMP00000212838, ENST00000346177, OTTHUMT00000350795
    Conserved Domains (3) summary
    smart00557
    Location:14431536
    Blast Score: 317
    IG_FLMN; Filamin-type immunoglobulin domains
    cd00014
    Location:37141
    Blast Score: 250
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    pfam00630
    Location:23742460
    Blast Score: 188
    Filamin; Filamin/ABP280 repeat
  2. NM_001458.4NP_001449.3  filamin-C isoform a

    See proteins identical to NP_001449.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AB208865, AF089841, AF146692, AJ012737
    Consensus CDS
    CCDS43644.1
    UniProtKB/Swiss-Prot
    Q14315
    UniProtKB/TrEMBL
    Q59H94
    Related
    ENSP00000327145, OTTHUMP00000025245, ENST00000325888, OTTHUMT00000059948
    Conserved Domains (3) summary
    smart00557
    Location:14431536
    Blast Score: 317
    IG_FLMN; Filamin-type immunoglobulin domains
    cd00014
    Location:37141
    Blast Score: 250
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    pfam00630
    Location:24072493
    Blast Score: 188
    Filamin; Filamin/ABP280 repeat

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000007.14

    Range
    128830382..128859274
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006715910.1XP_006715973.1  

    Conserved Domains (3) summary
    smart00557
    Location:13501443
    Blast Score: 317
    IG_FLMN; Filamin-type immunoglobulin domains
    cd00014
    Location:37141
    Blast Score: 250
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    pfam00630
    Location:23142400
    Blast Score: 188
    Filamin; Filamin/ABP280 repeat

Alternate HuRef

Genomic

  1. AC_000139.1 Alternate HuRef

    Range
    122832064..122860967
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018918.2 Alternate CHM1_1.1

    Range
    128403744..128432589
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Supplemental Content

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