BFSP2

GENERAL INFORMATION

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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

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RNA tissue category

HPA:Not detected
GTEx:Tissue enhanced (spleen)

Protein evidence

Evidence at protein level

Protein localization

External data suggests expression in lens. RNA-based expert annotation could not be performed.

ANTIBODY RELIABILITY

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Data reliability
description

External characterization data supports antibody staining pattern while RNA data does not. Additional tissue expression in retina.

Data reliability

Supportive based on 1 antibody.
HPA038464
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
N/A
Endocrine tissues
N/A
Bone marrow & immune system
N/A
Muscle tissues
N/A
Lung
N/A
Nasopharynx
N/A
N/A
Bronchus
N/A
N/A
Lung
N/A
Liver & gallbladder
N/A
Liver
N/A
Pancreas
N/A
Pancreas
N/A
Gastrointestinal tract
N/A
Kidney & urinary bladder
N/A
Male tissues
N/A
Testis
N/A
Epididymis
N/A
N/A
Prostate
N/A
Seminal vesicle
N/A
N/A
Female tissues
N/A
Breast
N/A
N/A
Vagina
N/A
N/A
Cervix, uterine
N/A
N/A
Ovary
N/A
Placenta
N/A
Adipose & soft tissue
N/A
Skin
N/A
Skin
N/A
Cerebral cortex

Lateral ventricle

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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RNA-based expert annotation could not be performed, due to inconclusive results. View immunohistochemistry primary data.


RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Not detected

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enhanced (spleen)

Organ

Expression



GENE INFORMATION

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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 78.38)

Entrez gene

8419

UniProt

Q13515 (UniProt - Evidence at protein level)

neXtProt

NX_Q13515

Antibodypedia

BFSP2 antibodies


PROTEIN BROWSER

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ENST00000302334
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

BFSP2-001 ENSP00000304987
ENST00000302334
Q13515
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