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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
  • Alliance
    gene page
  • Transcription Start Sites
    9 TSS
  • Candidate for QTL
    3 QTL
Location &
Maps
more
  • Sequence Map
    ChrX:73267067-73293426 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 37.89 cM
  • Mapping Data
    13 experiments
Strain
Comparison
more
  • SNPs within 2kb
    316 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_95556
 protein coding gene ChrX:73267067-73293787 (-)
129S1/SvImJ MGP_129S1SvImJ_G0035834
 protein coding gene ChrX:70013121-70039851 (-)
A/J MGP_AJ_G0035815
 protein coding gene ChrX:70206187-70234179 (-)
AKR/J MGP_AKRJ_G0035740
 protein coding gene ChrX:72104198-72127077 (-)
BALB/cJ MGP_BALBcJ_G0035800
 protein coding gene ChrX:69229863-69256319 (-)
C3H/HeJ MGP_C3HHeJ_G0035505
 protein coding gene ChrX:70489787-70516397 (-)
C57BL/6NJ MGP_C57BL6NJ_G0036330
 protein coding gene ChrX:72178217-72206205 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0033174
 protein coding gene ChrX:69271096-69297764 (-)
CAST/EiJ MGP_CASTEiJ_G0034796
 protein coding gene ChrX:55864911-55892805 (-)
CBA/J MGP_CBAJ_G0035480
 protein coding gene ChrX:74169611-74198303 (-)
DBA/2J MGP_DBA2J_G0035637
 protein coding gene ChrX:69658135-69688864 (-)
FVB/NJ MGP_FVBNJ_G0035581
 protein coding gene ChrX:69007682-69034964 (-)
LP/J MGP_LPJ_G0035722
 protein coding gene ChrX:70797496-70824782 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0035619
 protein coding gene ChrX:76724889-76759427 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0036352
 protein coding gene ChrX:69836238-69862180 (-)
PWK/PhJ MGP_PWKPhJ_G0034495
 protein coding gene ChrX:53837244-53864165 (-)
SPRET/EiJ MGP_SPRETEiJ_G0034329
 protein coding gene ChrX:56742588-56769903 (-)
WSB/EiJ MGP_WSBEiJ_G0034937
 protein coding gene ChrX:69112068-69140835 (-)



Homology
more
  • Human Ortholog
    FLNA, filamin A
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    FLNA, filamin A
  • Synonyms
    ABP-280, ABPX, CSBS, CVD1, FGS2, FLN, FLN1, FLN-A, FMD, MNS, NHBP, OPD, OPD1, OPD2, XLVD, XMVD
  • Links
    NCBI Gene ID: 2316
    neXtProt AC: NX_P21333
    UniProt: P21333

  • Chr Location
    Xq28; chrX:154348524-154374634 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Flna mouse models; 12 with human FLNA associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
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
    47 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
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
neoplasm
vision/eye

Click cells to view annotations.
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
    153
  • GO References
    26
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    880
  • Tissues
    101
  • cDNA Data
    535
  • Literature Summary
    33
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000031328 Ensembl Gene Model | MGI Sequence Detail 26360 C57BL/6J ±  kb
    transcript ENSMUST00000033699 Ensembl | MGI Sequence Detail 8312 Not Applicable  
    polypeptide ENSMUSP00000033699 Ensembl | MGI Sequence Detail 2647 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 550
      Genomic 7
      cDNA 539
      Primer pair 4

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-9829, MGI:1934608, MGI:2444346
    References
    more
    • Summaries
      All 141
      Developmental Gene Expression 33
      Diseases 1
      Gene Ontology 26
      Phenotypes 47
    • 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:351471 Kopsidas CA, et al., Sustained generation of neurons destined for neocortex with oxidative metabolic upregulation upon filamin abrogation. iScience. 2024 Jul 19;27(7):110199
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory