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Bfsp2 Gene Detail
Summary
  • Symbol
    Bfsp2
  • Name
    beaded filament structural protein 2, phakinin
  • Synonyms
    CP49
  • Feature Type
    protein coding gene
  • IDs
    MGI:1333828
    NCBI Gene: 107993
  • Alliance
  • Transcription Start Sites
    10 TSS
Location &
Maps
more
  • Sequence Map
    Chr9:103302123-103357608 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 9, 55.37 cM
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    265 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1333828
protein coding gene Chr9:103302123-103357619 (-)
129S1/SvImJ MGP_129S1SvImJ_G0035200
protein coding gene Chr9:105051626-105106243 (-)
A/J MGP_AJ_G0035180
protein coding gene Chr9:101265552-101324740 (-)
AKR/J MGP_AKRJ_G0035112
protein coding gene Chr9:103778602-103838858 (-)
BALB/cJ MGP_BALBcJ_G0035173
protein coding gene Chr9:100975096-101033146 (-)
C3H/HeJ MGP_C3HHeJ_G0034883
protein coding gene Chr9:104167265-104226652 (-)
C57BL/6NJ MGP_C57BL6NJ_G0035693
protein coding gene Chr9:107967572-108030729 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0032591
protein coding gene Chr9:98846199-98904750 (-)
CAST/EiJ MGP_CASTEiJ_G0034195
protein coding gene Chr9:104018686-104081748 (-)
CBA/J MGP_CBAJ_G0034852
protein coding gene Chr9:111733531-111789560 (-)
DBA/2J MGP_DBA2J_G0035013
protein coding gene Chr9:100756610-100812535 (-)
FVB/NJ MGP_FVBNJ_G0034961
protein coding gene Chr9:99564594-99617004 (-)
LP/J MGP_LPJ_G0035089
protein coding gene Chr9:105257205-105314396 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0035000
protein coding gene Chr9:113524489-113582809 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0035715
protein coding gene Chr9:104021013-104080736 (-)
PWK/PhJ MGP_PWKPhJ_G0033902
protein coding gene Chr9:101017236-101074740 (-)
SPRET/EiJ MGP_SPRETEiJ_G0033737
protein coding gene Chr9:104070444-104131346 (-)
WSB/EiJ MGP_WSBEiJ_G0034315
protein coding gene Chr9:103906165-103966010 (-)



Homology
more
  • Human Ortholog
    BFSP2, beaded filament structural protein 2
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    BFSP2, beaded filament structural protein 2
  • Synonyms
    CP47, CP49, CTRCT12, LIFL-L, PHAKOSIN
  • Links
    NCBI Gene ID: 8419
    neXtProt AC: NX_Q13515
    UniProt: Q13515

  • Chr Location
    3q22.1; chr3:133400056-133475222 (+)  GRCh38

Human Diseases
more
  • Diseases
    2 with human BFSP2 associations

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

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    5 phenotypes from 3 alleles in 3 genetic backgrounds
    23 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 at this locus result in eye abnormalities.
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
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
non-membrane-bounded 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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 107993 NCBI Gene Model | MGI Sequence Detail 55486 C57BL/6J ±  kb
    transcript NM_001002896 RefSeq | MGI Sequence Detail 1490 C57BL/6  
    polypeptide Q6NVD9 UniProt | EBI | MGI Sequence Detail 416 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 22
      Genomic 1
      cDNA 18
      Primer pair 3

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:2143053
    References
    more
    • Summaries
      All 59
      Developmental Gene Expression 11
      Gene Ontology 13
      Phenotypes 23
    • Earliest
      J:53431 Wigle JT, et al., Prox1 function is crucial for mouse lens-fibre elongation. Nat Genet. 1999 Mar;21(3):318-22
    • Latest
      J:342871 Xiang J, et al., ATF4 May Be Essential for Adaption of the Ocular Lens to Its Avascular Environment. Cells. 2023 Nov 16;12(22)

    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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    last database update
    03/19/2024
    MGI 6.23
    The Jackson Laboratory