Bfsp2 beaded filament structural protein 2 [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Bfsp2provided by RGD
Official Full Name: beaded filament structural protein 2provided by RGD
Primary source: RGD:1591927
See related: EnsemblRapid:ENSRNOG00000010899 AllianceGenome:RGD:1591927
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: CP47; CP49; LIFL-L
Summary: Predicted to be a structural constituent of eye lens. Predicted to be involved in intermediate filament organization. Predicted to act upstream of or within cell maturation; intermediate filament cytoskeleton organization; and lens fiber cell development. Predicted to be located in cytoplasm. Predicted to be active in intermediate filament. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in Thymus (RPKM 16.2), Spleen (RPKM 14.0) and 5 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 8q32

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	8	NC_086026.1 (112885087..112942246, complement)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	8	NC_051343.1 (104006226..104063399, complement)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	8	NC_005107.4 (111908614..111965889, complement)

Chromosome 8 - NC_086026.1 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 degradation of filensin and phakinin in normal and cataractous rat lenses, was examined.
Title: The function of filensin and phakinin in lens transparency.

Submit: New GeneRIF Correction

General gene information

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Markers

RH134167 (e-PCR)
- UniSTS:217449

BM387416 (e-PCR)
- UniSTS:261510

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables structural constituent of eye lens	ISO Inferred from Sequence Orthology more info
enables structural molecule activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within cell maturation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cytoskeleton organization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within intermediate filament cytoskeleton organization	ISO Inferred from Sequence Orthology more info
involved_in intermediate filament organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in intermediate filament organization	ISO Inferred from Sequence Orthology more info
involved_in intermediate filament organization	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within lens fiber cell development	ISO Inferred from Sequence Orthology 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
located_in cytoplasm	ISO Inferred from Sequence Orthology 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	IEA Inferred from Electronic Annotation more info
located_in intermediate filament	ISO Inferred from Sequence Orthology 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 structural protein 2, phakinin; 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.

mRNA and Protein(s)

NM_001277434.2 → NP_001264363.1 phakinin

Status: VALIDATED

Source sequence(s)

JAXUCZ010000008

UniProtKB/Swiss-Prot

D3ZER2

UniProtKB/TrEMBL

A0A8I6AGG7

Related

ENSRNOP00000029527.5, ENSRNOT00000032376.9

Conserved Domains (1) summary

pfam00038
Location:116 → 416

Filament; Intermediate filament protein

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

Reference GRCr8

Genomic

NC_086026.1 Reference GRCr8

Range

112885087..112942246 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_039081978.1 → XP_038937906.1 phakinin isoform X1

UniProtKB/TrEMBL

A0A8I6AGG7

Conserved Domains (1) summary

pfam00038
Location:116 → 415

Filament; Intermediate filament protein
XM_039081979.2 → XP_038937907.1 phakinin isoform X4

Conserved Domains (1) summary

pfam00038
Location:32 → 289

Filament; Intermediate filament protein
XM_039081980.2 → XP_038937908.2 phakinin isoform X2
XM_063266000.1 → XP_063122070.1 phakinin isoform X3