About   Help   FAQ
Flnb Gene Detail
Summary
  • Symbol
    Flnb
  • Name
    filamin, beta
  • Feature Type
    protein coding gene
  • IDs
    MGI:2446089
    NCBI Gene: 286940
  • Alliance
    gene page
  • Transcription Start Sites
    10 TSS
Location &
Maps
more
  • Sequence Map
    Chr14:14518185-14651816 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 14, 4.59 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    3768 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2446089
 protein coding gene Chr14:14518185-14651852 (-)
129S1/SvImJ MGP_129S1SvImJ_G0020984
 protein coding gene Chr14:137977-277649 (+)
A/J MGP_AJ_G0020932
 protein coding gene Chr14:114334-263679 (+)
AKR/J MGP_AKRJ_G0020909
 protein coding gene Chr14:117894-256786 (+)
BALB/cJ MGP_BALBcJ_G0020934
 protein coding gene Chr14:110952-251144 (+)
C3H/HeJ MGP_C3HHeJ_G0020719
 protein coding gene Chr14:123376-266904 (+)
C57BL/6NJ MGP_C57BL6NJ_G0021368
 protein coding gene Chr14:140847-285248 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0018937
 protein coding gene Chr14:1057031-1191046 (+)
CAST/EiJ MGP_CASTEiJ_G0020241
 protein coding gene Chr14:120405-263297 (+)
CBA/J MGP_CBAJ_G0020685
 protein coding gene Chr14:129146-284379 (+)
DBA/2J MGP_DBA2J_G0020808
 protein coding gene Chr14:110234-243913 (+)
FVB/NJ MGP_FVBNJ_G0020790
 protein coding gene Chr14:108520-247009 (+)
LP/J MGP_LPJ_G0020885
 protein coding gene Chr14:119915-258991 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0020816
 protein coding gene Chr14:136633-286584 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0021401
 protein coding gene Chr14:126866-268961 (+)
PWK/PhJ MGP_PWKPhJ_G0019993
 protein coding gene Chr14:132485-267467 (+)
SPRET/EiJ MGP_SPRETEiJ_G0019814
 protein coding gene Chr14:125780-261775 (+)
WSB/EiJ MGP_WSBEiJ_G0020299
 protein coding gene Chr14:120013-262247 (+)



Homology
more
  • Human Ortholog
    FLNB, filamin B
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    FLNB, filamin B
  • Synonyms
    ABP-278, ABP-280, AOI, FH1, FLN1L, FLN-B, LRS1, SCT, TABP, TAP
  • Links
    NCBI Gene ID: 2317
    neXtProt AC: NX_O75369
    UniProt: O75369

  • Chr Location
    3p14.3; chr3:58008398-58172251 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Flnb mouse models; 9 with human FLNB associations

Human Disease Mouse Models
      
IDs
 View 2 models
      
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    85 phenotypes from 6 alleles in 4 genetic backgrounds
    4 phenotypes from multigenic genotypes
    8 images
    28 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.
Mutations in this gene cause skeletal defects including runting, premature mineralization, and bone fusion. Nullizygous mice show a delay and reduction in long bone growth. Truncation mutations cause early fusion of spinal vertebrae due to enhanced chondrocyte hypertrophy and early differentiation.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    24
  • GO References
    11
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
    939
  • Tissues
    82
  • cDNA Data
    34
  • Literature Summary
    18
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000025278 Ensembl Gene Model | MGI Sequence Detail 133632 C57BL/6J ±  kb
    transcript ENSMUST00000052678 Ensembl | MGI Sequence Detail 9100 Not Applicable  
    polypeptide ENSMUSP00000052020 Ensembl | MGI Sequence Detail 2602 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 39
      cDNA 34
      Primer pair 3
      Other 2

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGI:2145716
    References
    more
    • Summaries
      All 68
      Developmental Gene Expression 18
      Diseases 2
      Gene Ontology 11
      Phenotypes 28
    • Earliest
      J:79977 Sheen VL, et al., Filamin A and Filamin B are co-expressed within neurons during periods of neuronal migration and can physically interact. Hum Mol Genet. 2002 Nov 1;11(23):2845-54
    • 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)
    Citing These Resources
    Funding Information
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory