Seroatlas · Human Serome Atlas

BFSP2

Phakinin

Also known as: BFSP2_HUMAN, CP47, CP49, LIFL-L, phakinin

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q13515
Gene
BFSP2
Ensembl
ENSG00000170819
Chromosome
3
Canonical length
415 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Plasma membrane,Cytosol

OverviewNCBI Gene

More than 99% of the vertebrate ocular lens is comprised of terminally differentiated lens fiber cells. Two lens-specific intermediate filament-like proteins, the protein product of this gene (phakinin), and filensin, are expressed only after fiber cell differentiation has begun. Both proteins are found in a structurally unique cytoskeletal element that is referred to as the beaded filament (BF). Mutations in this gene have been associated with juvenile-onset, progressive cataracts and Dowling-Meara epidermolysis bullosa simplex. [provided by RefSeq, Jun 2009]

Canonical amino-acid sequenceUniProt

415 residues, UniProt reviewed canonical sequence.

>Q13515|BFSP2
     1  MSERRVVVDL PTSASSSMPL QRRRASFRGP RSSSSLESPP ASRTNAMSGL VRAPGVYVGT
    61  APSGCIGGLG ARVTRRALGI SSVFLQGLRS SGLATVPAPG LERDHGAVED LGGCLVEYMA
   121  KVHALEQVSQ ELETQLRMHL ESKATRSGNW GALRASWASS CQQVGEAVLE NARLMLQTET
   181  IQAGADDFKE RYENEQPFRK AAEEEINSLY KVIDEANLTK MDLESQIESL KEELGSLSRN
   241  YEEDVKLLHK QLAGCELEQM DAPIGTGLDD ILETIRIQWE RDVEKNRVEA GALLQAKQQA
   301  EVAHMSQTQE EKLAAALRVE LHNTSCQVQS LQAETESLRA LKRGLENTLH DAKHWHDMEL
   361  QNLGAVVGRL EAELREIRAE AEQQQQERAH LLARKCQLQK DVASYHALLD REESG

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against BFSP2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Cell surface
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.54
Highest tissue expression
0.4 nTPM

Expression across tissuesHPA

Tissue

  • lymph node: 0.4 nTPM
  • tonsil: 0.4 nTPM
  • stomach: 0.1 nTPM
  • adipose tissue: 0 nTPM
  • adrenal gland: 0 nTPM
  • amygdala: 0 nTPM

Single-cell type

  • plasma cells: 149 nCPM
  • epididymal principal cells: 26 nCPM
  • b-cells: 21 nCPM
  • t-cells: 21 nCPM
  • parietal cells: 8.8 nCPM
  • early spermatids: 6.6 nCPM

Immune cell

  • T-reg: 13 nTPM
  • memory CD4 T-cell: 1.6 nTPM
  • eosinophil: 0.3 nTPM
  • gdT-cell: 0.1 nTPM
  • memory CD8 T-cell: 0.1 nTPM
  • myeloid DC: 0.1 nTPM

Brain region

  • cerebral cortex: 0.4 nTPM
  • white matter: 0.3 nTPM
  • basal ganglia: 0.2 nTPM
  • hippocampal formation: 0.2 nTPM
  • amygdala: 0.1 nTPM
  • hypothalamus: 0.1 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about BFSP2.

Disease | AllUniProt

Conditions BFSP2 is implicated in, by any mechanism.

Disease | GeneticClinVar

3 pathogenic / likely-pathogenic of 161 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Cataract 12 multiple types
  • BFSP2-related disorder
  • 7 conditions

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
1.04
gnomAD pLI
0
gnomAD missense Z
0.29
DepMap mean gene effect
0.06
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of BFSP2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads BFSP2 as an antibody target. Whether an autoantibody or antibody against BFSP2 could matter depends on whether native BFSP2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

BFSP2 is annotated at the cell surface, where native BFSP2 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label BFSP2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/BFSP2. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

© 2026 · Seroatlas, Discover Oregon LLC · Terms of use

Loading the interactive Seroatlas protein explorer...