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Flnb Gene Detail
Summary
  • Symbol
    Flnb
  • Name
    filamin, beta
  • Feature Type
    protein coding gene
  • IDs
    MGI:2446089
    NCBI Gene: 286940
  • Gene Overview
    MyGene.info: FLNB
Location & Maps
more
  • Sequence Map
    Chr14:7817957-7951588 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      133632 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 14, 4.59 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    FLNB, filamin B
  • Vertebrate Orthologs
    9
  • Human Ortholog
    FLNB, filamin B
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ABP-278, ABP-280, AOI, FH1, FLN1L, FLN-B, LRS1, SCT, TABP, TAP
  • Links
    NCBI Gene ID: 2317
    neXtProt AC: NX_O75369

  • Chr Location
    3p14.3; chr3:58008400-58172255 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 37480
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: FLNB
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Flnb mouse models; 5 with human FLNB associations

Human Disease Mouse Models
       Spondylocarpotarsal Synostosis Syndrome; SCT   OMIM: 272460 View 2 models
       Atelosteogenesis, Type I; AO1   OMIM: 108720
Atelosteogenesis, Type III; AO3   OMIM: 108721
Boomerang Dysplasia   OMIM: 112310
Larsen Syndrome; LRS   OMIM: 150250
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
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  • Phenotype Summary
    79 phenotypes from 6 alleles in 4 genetic backgrounds
    4 phenotypes from multigenic genotypes
    8 images
    18 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.
  • All Mutations and Alleles
    127
  • Chemically induced (ENU)
    1
  • Gene trapped
    122
  • Targeted
    4
  • Incidental Mutations
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
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  • 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
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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
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000036302 VEGA Gene Model | MGI Sequence Detail 133632 C57BL/6J ±  kb
transcript OTTMUST00000093156 VEGA | MGI Sequence Detail 9100 Not Applicable  
polypeptide OTTMUSP00000051606 VEGA | MGI Sequence Detail 2602 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    720 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 34
    cDNA 33
    Primer pair 1

    Microarray probesets 6
Other
Accession IDs
less
MGI:2145716
References
more
  • Summaries
    All 49
    Developmental Gene Expression 11
    Diseases 2
    Gene Ontology 8
    Phenotypes 18
  • 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:228563 Koscielny G, et al., The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data. Nucleic Acids Res. 2014 Jan;42(Database issue):D802-9

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
11/22/2016
MGI 6.06
The Jackson Laboratory