Entity Details

Primary name BFSP2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ13515
EntryNameBFSP2_HUMAN
FullNamePhakinin
TaxID9606
Evidenceevidence at protein level
Length415
SequenceStatuscomplete
DateCreated2001-11-16
DateModified2021-06-02

Ontological Relatives

GenesBFSP2

GO terms

Show/Hide Table
GOName
GO:0005200 structural constituent of cytoskeleton
GO:0005212 structural constituent of eye lens
GO:0005882 intermediate filament
GO:0005886 plasma membrane
GO:0005938 cell cortex
GO:0007601 visual perception
GO:0045109 intermediate filament organization
GO:0048469 cell maturation
GO:0050896 response to stimulus
GO:0070307 lens fiber cell development

Subcellular Location

Show/Hide Table
Subcellular Location
Cell membrane
Cytoplasm

Domains

Show/Hide Table
DomainNameCategoryType
IPR002957 Keratin, type IFamilyFamily
IPR027694 PhakininFamilyFamily
IPR039008 Intermediate filament, rod domainDomainDomain

Diseases

Show/Hide Table
Disease IDSourceNameDescription
611597 OMIMCataract 12, multiple types (CTRCT12)An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. The opacities can be nuclear, sutural, stellate cortical, lamellar, cortical, nuclear embryonic, Y-sutural, punctate cortical, congenital or with juvenile- and adult-onset. The disease is caused by variants affecting the gene represented in this entry.

Interactions

56 interactions

InteractorPartnerSourcesPublicationsLink
BFSP2_HUMANSYCE1_HUMANBioGRID, IntAct25416956 25910212 32296183 details
BFSP2_HUMANATF4_HUMANBioGRID, IntAct25416956 25910212 29892012 31515488 32296183 details
BFSP2_HUMANMBIP1_HUMANBioGRID, IntAct25416956 25910212 details
BFSP2_HUMANSRTD3_HUMANBioGRID, IntAct32296183 details
BFSP2_HUMANCAGE1_HUMANBioGRID, IntAct32296183 details
BFSP2_HUMANPBX2_HUMANBioGRID, IntAct32296183 details
BFSP2_HUMANABI3_HUMANBioGRID, IntAct32296183 details
BFSP2_HUMANMYOG_HUMANBioGRID, IntAct32296183 details
BFSP2_HUMANCACO1_HUMANBioGRID, IntAct28514442 32296183 details
BFSP2_HUMANK1H1_HUMANBioGRID, IntAct32296183 details
BFSP2_HUMANCEP44_HUMANBioGRID, IntAct28514442 32296183 details
BFSP2_HUMANUBP54_HUMANBioGRID, IntAct32296183 details
BFSP2_HUMANPO6F2_HUMANBioGRID, IntAct32296183 details
BFSP2_HUMANSNPC5_HUMANBioGRID, IntAct32296183 details
BFSP2_HUMANMAGA6_HUMANBioGRID, IntAct32296183 details
BFSP2_HUMANK1C27_HUMANBioGRID, IntAct32296183 details
BFSP2_HUMANBICRL_HUMANBioGRID, IntAct32296183 details
BFSP2_HUMANBFSP1_HUMANBioGRID, HPRD, IntAct28514442 32296183 7504675 details
BFSP2_HUMANCDR2L_HUMANBioGRID, IntAct28514442 32296183 details
BFSP2_HUMANRNS10_HUMANBioGRID, IntAct32296183 details
BFSP2_HUMANBEX5_HUMANBioGRID, IntAct32296183 details
BFSP2_HUMANPRS8_HUMANBioGRID, IntAct32296183 details
BFSP2_HUMANSCOC_HUMANBioGRID, IntAct28514442 32296183 details
BFSP2_HUMANBEX3_HUMANBioGRID, IntAct32296183 details
BFSP2_HUMANPANKY_HUMANBioGRID, IntAct32296183 details
BFSP2_HUMANECSIT_HUMANBioGRID, IntAct32296183 details
BFSP2_HUMANMCCD1_HUMANBioGRID, IntAct32296183 details
BFSP2_HUMANDMAP1_HUMANBioGRID, IntAct32296183 details
BFSP2_HUMANBL1S2_HUMANBioGRID, IntAct32296183 details
BFSP2_HUMANSNAPN_HUMANBioGRID, IntAct32296183 details
BFSP2_HUMANMS18B_HUMANBioGRID, IntAct32296183 details
BFSP2_HUMANSUFU_HUMANBioGRID, IntAct28514442 32296183 details
BFSP2_HUMANAMOL2_HUMANBioGRID, IntAct32296183 details
BFSP2_HUMANRINT1_HUMANBioGRID, IntAct32296183 details
BFSP2_HUMANDISC1_HUMANBioGRID, IntAct32296183 details
BFSP2_HUMANUSBP1_HUMANBioGRID, IntAct25910212 32296183 details
BFSP2_HUMANASPP1_HUMANBioGRID, IntAct32296183 details
BFSP2_HUMANKRT37_HUMANBioGRID, IntAct32296183 details
BFSP2_HUMANWASC3_HUMANBioGRID, IntAct32296183 details
BFSP2_HUMANHGS_HUMANBioGRID, IntAct32296183 details
BFSP2_HUMANCSN6_HUMANBioGRID, IntAct32296183 details
BFSP2_HUMANK1C24_HUMANBioGRID, IntAct32296183 details
BFSP2_HUMANZN343_HUMANBioGRID, IntAct32296183 details
BFSP2_HUMANCEP63_HUMANBioGRID, IntAct32296183 details
BFSP2_HUMANCC062_HUMANBioGRID, IntAct32296183 details
BFSP2_HUMANHAUS1_HUMANBioGRID, IntAct32296183 details
BFSP2_HUMANCDCA4_HUMANBioGRID, IntAct32296183 details
BFSP2_HUMANSAPC2_HUMANBioGRID, IntAct32296183 details
BFSP2_HUMANCC153_HUMANBioGRID, IntAct32296183 details
BFSP2_HUMANK1C14_HUMANBioGRID, IntAct32296183 details
BFSP2_HUMANPBX4_HUMANBioGRID, IntAct32296183 details
BFSP2_HUMANCT55_HUMANBioGRID, IntAct32296183 details
BFSP2_HUMANZN620_HUMANBioGRID, IntAct32296183 details
BFSP2_HUMANTRIB3_HUMANBioGRID, IntAct32296183 details
BFSP2_HUMANSYC1L_HUMANBioGRID32296183 details
BFSP2_HUMANCC183_HUMANBioGRID32296183 details