BFSP2 beaded filament structural protein 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: BFSP2provided by HGNC
Official Full Name: beaded filament structural protein 2provided by HGNC
Primary source: HGNC:HGNC:1041
See related: Ensembl:ENSG00000170819 MIM:603212; AllianceGenome:HGNC:1041
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CP47; CP49; LIFL-L; CTRCT12; PHAKOSIN
Summary: 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]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 3q22.1

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (133400056..133475208)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (136142708..136220306)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (133118900..133194052)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The results suggest that the N-terminal domain of CRYAA is required during in vitro complex formation with filensin and phakinin.
Title: Human alpha A-crystallin missing N-terminal domain poorly complexes with filensin and phakinin.
We report a novel mutation (p.G112E) in the BFSP2 gene, underscoring the physiological importance of the beaded filament protein and supporting its role in human cataract formation.
Title: A novel p.G112E mutation in BFSP2 associated with autosomal dominant pulverulent cataract with sutural opacities.
Data show that BFSP2 and PITX3, hitherto known to cause eye defects only in a dominant fashion, can also present recessively.
Title: Novel recessive BFSP2 and PITX3 mutations: insights into mutational mechanisms from consanguineous populations.
This is the first reported case of a congenital lamellar cataract phenotype associated with the mutation of Arg339His (P.R339H) in BFSP2.
Title: A new mutation in BFSP2 (G1091A) causes autosomal dominant congenital lamellar cataracts.
Progressive phenotype has provided more evidence for the heterogeneity of congenital cataract caused by BFSP2 mutations and for the important role BFSP2 plays in cataract formation.
Title: The E233del mutation in BFSP2 causes a progressive autosomal dominant congenital cataract in a Chinese family.
The Y-sutural opacity in the lens might be the typical and earliest sign for cataract caused by the BFSP2 mutation. In addition, a myopia susceptibility locus in this region, which might also be associated with the mutation in BFSP2.
Title: Clinical description and genome wide linkage study of Y-sutural cataract and myopia in a Chinese family.
Progressive isolated sutural cataract associated with deletion mutation of BFSP2 gene in Chinese pedigree. Physiological importance of beaded filament protein. Role of BFSP2 in human cataract formation.
Title: Progressive sutural cataract associated with a BFSP2 mutation in a Chinese family.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Cataract 12 multiple types MedGen: C3808115 OMIM: 611597 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:482055

G63114 (e-PCR)
- UniSTS:140089

STS-N29638 (e-PCR)
- UniSTS:45935

NoName (e-PCR)
- UniSTS:481174

RH70648 (e-PCR)
- UniSTS:50133

NoName (e-PCR)
- UniSTS:486364

RH119012 (e-PCR)
- UniSTS:138980

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural constituent of cytoskeleton	TAS Traceable Author Statement more info	PubMed
enables structural constituent of eye lens	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in cell maturation	IEA Inferred from Electronic Annotation more info
involved_in intermediate filament organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in intermediate filament organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in lens fiber cell development	IEA Inferred from Electronic Annotation more info
involved_in visual perception	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cell cortex	IEA Inferred from Electronic Annotation more info
is_active_in cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
is_active_in intermediate filament	IBA Inferred from Biological aspect of Ancestor more info
located_in intermediate filament	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: phakinin

Names: 49 kDa cytoskeletal protein; beaded filament protein CP49; beaded filament structural protein 2, phakinin; bfps2, Cytoskeletal protein, 49-kD; lens fiber cell beaded filament protein CP 47; lens fiber cell beaded filament protein CP 49; lens intermediate filament-like light

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_012425.2 RefSeqGene

Range

5002..80154

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_003571.4 → NP_003562.1 phakinin

See identical proteins and their annotated locations for NP_003562.1

Status: REVIEWED

Source sequence(s)

AC022296, AC055753

Consensus CDS

CCDS33859.1

UniProtKB/Swiss-Prot

Q13515, Q14D32, Q9HBW5

Related

ENSP00000304987.2, ENST00000302334.3

Conserved Domains (1) summary

pfam00038
Location:115 → 414

Filament; Intermediate filament protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

133400056..133475208

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017007315.2 → XP_016862804.1 phakinin isoform X1

UniProtKB/Swiss-Prot

Q13515, Q14D32, Q9HBW5

Conserved Domains (1) summary

pfam00038
Location:115 → 414

Filament; Intermediate filament protein