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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
    gene page
  • 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
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 9, 55.37 cM
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    254 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
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; chr3:133397882-133475212 (+)  GRCh38.p7
Human Diseases
more
  • Diseases
    1 with human BFSP2 associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    5 phenotypes from 3 alleles in 3 genetic backgrounds
    21 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Mutations at this locus result in eye abnormalities.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    19
  • GO References
    13
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 death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
    682
  • Tissues
    4
  • cDNA Data
    18
  • Literature Summary
    10
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    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 21
      Genomic 1
      cDNA 18
      Primer pair 2

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:2143053
    References
    more
    • Summaries
      All 56
      Developmental Gene Expression 10
      Gene Ontology 13
      Phenotypes 21
    • 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:276474 Varadaraj K, et al., C-Terminal End of Aquaporin 0 Regulates Lens Gap Junction Channel Function. Invest Ophthalmol Vis Sci. 2019 Jun 3;60(7):2525-2531
    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
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    06/23/2022
    MGI 6.20     		The Jackson Laboratory