BFSP2
entrez
8419
canonical
uniprot
Q13515
canonical
ensembl
ENSG00000170819
resolver
ensp
ENSP00000304987
resolver
enst
ENST00000302334
resolver
genesymbol
BFSP2
resolver
hgnc
HGNC:1041
resolver
uniprot
Q14D32
resolver
uniprot
Q9HBW5
resolver
uniprot_entry
BFSP2_HUMAN
resolver
uniprot_sec
Q14D32
resolver
uniprot_sec
Q9HBW5
resolver
amino_acid_sequence
MSERRVVVDLPTSASSSMPLQRRRASFRGPRSSSSLESPPASRTNAMSGLVRAPGVYVGTAPSGCIGGLGARVTRRALGISSVFLQGLRSSGLATVPAPGLERDHGAVEDLGGCLVEYMAKVHALEQVSQELETQLRMHLESKATRSGNWGALRASWASSCQQVGEAVLENARLMLQTETIQAGADDFKERYENEQPFRKAAEEEINSLYKVIDEANLTKMDLESQIESLKEELGSLSRNYEEDVKLLHKQLAGCELEQMDAPIGTGLDDILETIRIQWERDVEKNRVEAGALLQAKQQAEVAHMSQTQEEKLAAALRVELHNTSCQVQSLQAETESLRALKRGLENTLHDAKHWHDMELQNLGAVVGRLEAELREIRAEAEQQQQERAHLLARKCQLQKDVASYHALLDREESG
uniprot
proteins
disease_involvement
DISEASE: Cataract 12, multiple types (CTRCT12) [MIM:611597]: 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. {ECO:0000269|PubMed:10729115, ECO:0000269|PubMed:10739768, ECO:0000269|PubMed:15570218, ECO:0000269|PubMed:17200662, ECO:0000269|PubMed:17982427, ECO:0000269|PubMed:28839118, ECO:0000269|PubMed:29914532}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Required for the correct formation of lens intermediate filaments as part of a complex composed of BFSP1, BFSP2 and CRYAA (PubMed:28935373). Plays a role in maintenance of retinal lens optical clarity (By similarity). {ECO:0000250|UniProtKB:Q6NVD9, ECO:0000269|PubMed:28935373}.
uniprot
proteins
mass_dalton
45880
uniprot
proteins
protein_family
Intermediate filament family
uniprot
proteins
pubmed
10729115
uniprot
proteins
pubmed
10739768
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15570218
uniprot
proteins
pubmed
17200662
uniprot
proteins
pubmed
17982427
uniprot
proteins
pubmed
28839118
uniprot
proteins
pubmed
28935373
uniprot
proteins
pubmed
29914532
uniprot
proteins
pubmed
8636093
uniprot
proteins
sequence_length
415
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q28177}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q28177}; Cytoplasmic side {ECO:0000250|UniProtKB:Q28177}. Cytoplasm {ECO:0000250|UniProtKB:D3ZER2}. Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:Q28177}. Cytoplasm, cell cortex {ECO:0000250|UniProtKB:Q28177}. Note=Expressed primarily at the plasma membrane in peripheral lens fiber cells, however also localizes to the cytoplasm in mature lens fiber cells. {ECO:0000250|UniProtKB:Q28177}.
uniprot
proteins