About   Help   FAQ
Flna Gene Detail
Summary
  • Symbol
    Flna
  • Name
    filamin, alpha
  • Synonyms
    ABP-280, actin-binding protein 280, Dilp2, F730004A14Rik, filamin-1, Fln1, GENA 379
  • Feature Type
    protein coding gene
  • IDs
    MGI:95556
    NCBI Gene: 192176
  • Gene Overview
    MyGene.info: FLNA
Location & Maps
more
  • Sequence Map
    ChrX:74223461-74249820 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      26360 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome X, 37.89 cM
  • Detailed Genetic Map ± 1 cM
  • Mapping Data
    12 experiments
Homology
more
  • Human Ortholog
    FLNA, filamin A
  • Vertebrate Orthologs
    7
  • Human Ortholog
    FLNA, filamin A
    Orthology source: HomoloGene
  • Synonyms
    ABP-280, ABPX, CSBS, CVD1, FLN, FLN1, FLN-A, FMD, MNS, NHBP, OPD, OPD1, OPD2, XLVD, XMVD
  • Links
    NCBI Gene ID: 2316
    neXtProt AC: NX_P21333

  • Chr Location
    Xq28; chrX:154348529-154374638 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    4 with Flna mouse models; 9 with human FLNA associations

Human Disease Mouse Models
       Melnick-Needles Syndrome; MNS   OMIM: 309350 View 1 model
Otopalatodigital Syndrome, Type I; OPD1   OMIM: 311300 View 1 model
Otopalatodigital Syndrome, Type II; OPD2   OMIM: 304120 View 1 model
Periventricular Nodular Heterotopia 1; PVNH1   OMIM: 300049 View 1 model
       Cardiac Valvular Dysplasia, X-Linked; CVD1   OMIM: 314400
FG Syndrome 2; FGS2   OMIM: 300321
Frontometaphyseal Dysplasia; FMD   OMIM: 305620
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked   OMIM: 300048
Terminal Osseous Dysplasia; TOD   OMIM: 300244
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    46 phenotypes from 4 alleles in 5 genetic backgrounds
    1 images
    22 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    21
  • Chemically induced (ENU)
    1
  • Gene trapped
    16
  • Targeted
    4
  • Incidental Mutations
    APF
Females heterozygous for an X-linked, ENU-induced mutation exhibit dilated pupils and milder cardiac, sternum, and palate defects than males. Hemizygous males are inviable and exhibit incomplete septation of the outflow tract, septal defects, cleft palate and incomplete fusion of the sternum.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000016503 VEGA Gene Model | MGI Sequence Detail 26360 C57BL/6J ±  kb
transcript OTTMUST00000039863 VEGA | MGI Sequence Detail 8312 Not Applicable  
polypeptide OTTMUSP00000017782 VEGA | MGI Sequence Detail 2647 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    84 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 545
    Genomic 7
    cDNA 537
    Primer pair 1

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-9829, MGI:1934608, MGI:2444346
References
more
  • Summaries
    All 92
    Developmental Gene Expression 19
    Diseases 1
    Gene Ontology 18
    Phenotypes 22
  • Earliest
    J:18473 Gariboldi M, et al., Comparative mapping of the actin-binding protein 280 genes in human and mouse. Genomics. 1994 May 15;21(2):428-30
  • Latest
    J:230309 Bandaru S, et al., Deficiency of filamin A in endothelial cells impairs left ventricular remodelling after myocardial infarction. Cardiovasc Res. 2015 Feb 1;105(2):151-9

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
05/24/2016
MGI 6.04
The Jackson Laboratory