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BFSP2

GENERAL INFORMATION

Gene name

 BFSP2

Gene description

 Beaded filament structural protein 2, phakinin

Protein class

 Disease related genes
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 1
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Not detected
GTEx:Tissue enhanced (spleen)
FANTOM5:Not detected

Protein evidence

 Evidence at protein level

Protein expression

 Expression in lens.

DATA RELIABILITY

Data reliability
description

 External characterization data supports antibody staining but no internal RNA data available for correlation.

Reliability score

 Supported based on 2 antibodies.
HPA038464 , HPA062959
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Eye
N/A
Eye
N/A
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Eye

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Not detected
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (spleen)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Not detected

GENE INFORMATION

Gene name

 BFSP2 (HGNC Symbol)

Synonyms

 CP47, CP49, LIFL-L, phakinin

Description

 Beaded filament structural protein 2, phakinin (HGNC Symbol)

Entrez gene 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]

Chromosome

 3

Cytoband

 q22.1

Chromosome location (bp)

 133399995 - 133475222

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000170819 (version 83.38)

Entrez gene

 8419

UniProt

 Q13515 (UniProt - Evidence at protein level)

neXtProt

 NX_Q13515

Antibodypedia

 BFSP2 antibodies

PROTEIN BROWSER
BFSP2-001

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
BFSP2-001
ENSP00000304987
ENST00000302334
Q13515 [Direct mapping]
Phakinin
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Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
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GO:0005198 [structural molecule activity]
GO:0005200 [structural constituent of cytoskeleton]
GO:0005212 [structural constituent of eye lens]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005882 [intermediate filament]
GO:0005886 [plasma membrane]
GO:0007010 [cytoskeleton organization]
GO:0007601 [visual perception]
GO:0045104 [intermediate filament cytoskeleton organization]
GO:0048469 [cell maturation]
GO:0050896 [response to stimulus]
GO:0070307 [lens fiber cell development]
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 415 aa
45.9 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.