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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

BFSP2 Gene

protein-coding GIFtS: 51
GCID: GC03P133118

beaded filament structural protein 2, phakinin

Explore 11 diseases affiliated with
BFSP2 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Beaded Filament Structural Protein 2, Phakinin¹ ²		Lens Intermediate Filament-Like Light² ³
CP47¹ ² ³ ⁵		49 KDa Cytoskeletal Protein² ³
CP49¹ ² ³ ⁵		PHAKOSIN²
LIFL-L¹ ² ³		Beaded Filament Protein CP49²
Phakinin¹		Bfps2, Cytoskeletal Protein, 49-KD²
Lens Fiber Cell Beaded Filament Protein CP 47² ³		Beaded Filament Structural Protein 2³
Lens Fiber Cell Beaded Filament Protein CP 49² ³

External Ids:	HGNC: 1041¹	Entrez Gene: 8419²	Ensembl: ENSG00000170819⁷	OMIM: 603212⁵	UniProtKB: Q13515³

Export aliases for BFSP2 gene to outside databases

Previous GC identifers: GC03P130061 GC03P133863 GC03P134400 GC03P134439 GC03P134601 GC03P130499

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for BFSP2:

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)

UniProtKB/Swiss-Prot: BFSP2_HUMAN, Q13515

Function: Involved in stabilization of lens fiber cell cytoskeleton (By similarity)

Gene Wiki entry for BFSP2

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000003.11 NC_018914.1 NT_005612.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the BFSP2 gene promoter:
AML1a HEN1 IRF-2 PPAR-gamma1 HFH-1 HOXA5 ARP-1 Zic3 RSRFC4
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: BFSP2 promoter sequence

Search SABiosciences Chromatin IP Primers for BFSP2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BFSP2

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q22.1 Ensembl cytogenetic band: 3q22.1 HGNC cytogenetic band: 3q22.1

BFSP2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BFSP2 gene location

GeneLoc information about chromosome 3 GeneLoc Exon Structure

GeneLoc location for GC03P133118: view genomic region (about GC identifiers)

Start:	133,118,790 bp from pter	End:	133,194,066 bp from pter
Size:	75,277 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: BFSP2_HUMAN, Q13515 (See protein sequence)

Recommended Name: Phakinin

Size: 415 amino acids; 45880 Da

Subunit: Associates with BFSP1. Interacts with LGSN

Subcellular location: Membrane. Cytoplasm. Cytoplasm, cytoskeleton. Note=Membrane- and cytoskeleton-associated

Secondary accessions: Q14D32 Q9HBW5

Explore the universe of human proteins at neXtProt for BFSP2: NX_Q13515

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q13515

BFSP2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_003562.1

ENSEMBL proteins:

ENSP00000304987

Human Recombinant Protein Products:

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	Uscn Proteins for BFSP2

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	IDA	--
GO:0005882	intermediate filament	IEA	--
GO:0005886	plasma membrane	IDA	--

BFSP2 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for BFSP2

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

BFSP2 for domains About GeneDecksing

3 InterPro domains/families:

IPR001664 IF

IPR016044 F

IPR002957 Keratin_I

Graphical View of Domain Structure for InterPro Entry Q13515

ProtoNet protein and cluster: Q13515

2 Blocks protein families:

IPB001664 Intermediate filament protein

IPB002957 Type I keratin signature

UniProtKB/Swiss-Prot: BFSP2_HUMAN, Q13515

Similarity: Belongs to the intermediate filament family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: BFSP2_HUMAN, Q13515

Function: Involved in stabilization of lens fiber cell cytoskeleton (By similarity)

miRNA Products:		Browse 3'-UTR reporter clones for miRNA target validation Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat BFSP2
		1 QIAGEN miScript miRNA Assays for microRNA that regulate BFSP2:
		hsa-miR-330-3p
		SwitchGear 3'UTR luciferase reporter plasmid: BFSP2 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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Gene Editing
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		Search LifeMap BioReagents cell lines for BFSP2

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BFSP2

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005200	structural constituent of cytoskeleton	TAS	9628810
GO:0005212	structural constituent of eye lens	IEA	--
GO:0005515	protein binding	--	--

BFSP2 for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-outs for BFSP2: Bfsp2^tm1Pgf Bfsp2^tm1Raq
     1 MGI mutant phenotype (inferred from 3 alleles) (MGI details for Bfsp2):

vision/eye

BFSP2 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for BFSP2

STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

1 Interacting protein for BFSP2 (Q13515³ ENSP00000304987⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
BFSP1	Q12934³, ENSP00000367104⁴	I2D: score=1 STRING: ENSP00000367104

About this table

Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007010	cytoskeleton organization	--	--
GO:0007601	visual perception	IEA	--
GO:0045104	intermediate filament cytoskeleton organization	IEA	--
GO:0048469	cell maturation	IEA	--
GO:0050896	response to stimulus	IEA	--

BFSP2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

BFSP2 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for BFSP2
1 Novoseek chemical compound relationship for BFSP2 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
cp-49	98.9	85	9573335 (8), 7781747 (8), 15777782 (7), 10603445 (6) (see all 19)

Search CenterWatch for drugs/clinical trials and news about BFSP2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for BFSP2 gene:

NM_003571.2

Unigene Cluster for BFSP2:

Beaded filament structural protein 2, phakinin

Hs.659862 [show with all ESTs]

Unigene Representative Sequence: NM_003571

6 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000302334(uc003epn.1) ENST00000513441 ENST00000511140 ENST00000511434

ENST00000510039 ENST00000503047

miRNA Products:		Browse 3'-UTR reporter clones for miRNA target validation Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat BFSP2
		1 QIAGEN miScript miRNA Assays for microRNA that regulate BFSP2:
		hsa-miR-330-3p
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Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for BFSP2 (see all 4) OriGene shRNA RFP: BFSP2 OriGene siRNA: BFSP2
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat BFSP2

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		GenScript: all cDNA clones in your preferred vector: BFSP2 (NM_003571)
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Additional cDNA sequence:

BC113518.1 BC113520.1 U48224.1

4 DOTS entries:

DT.100907 DT.70100625 DT.95157819 DT.75149633

24/111 AceView cDNA sequences (see all 111):

BM696566 BM706388 BM705695 BF726285 BU736946 BM705975 BM667774 BM705024

BU735124 BM693678 BM701618 BF726550 BM696550 BU735463 NM_003571 BU739460

BF727082 BU738074 BM700126 BM700495 BM679002 BU734797 BU737021 BM664254

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

BFSP2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CTGCAGACAG

About this image

BFSP2 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Eye

Lens

Eye

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See BFSP2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for BFSP2

SOURCE GeneReport for Unigene cluster: Hs.659862

UniProtKB/Swiss-Prot: BFSP2_HUMAN, Q13515

Tissue specificity: Lens

SABiosciences Custom PCR Arrays for BFSP2

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BFSP2

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BFSP2

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for BFSP2 gene from 3/9 species (see all 9) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	BFSP2¹	beaded filament structural protein 2, phakinin	68.6(n) 64.99(a)		396141 NM_205218.1 NP_990549.1
lizard (Anolis carolinensis)	Reptilia	BFSP2⁶	--	60(a)	1 ↔ 1	GL343224.1(2342766-2357508)
zebrafish (Danio rerio)	Actinopterygii	bfsp2¹	beaded filament structural protein 2, phakinin	59.78(n) 54.85(a)		494090 NM_001008633.1 NP_001008633.1

ENSEMBL Gene Tree for BFSP2 (if available)
TreeFam Gene Tree for BFSP2 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for BFSP2 gene

KRT34² KRT222² KRT31² ENSG00000264058² KRT35² KRT39² KRT40² KRT37²

KRT32² KRT38² KRT36² KRT33B² KRT33A²

8 SIMAP similar genes for BFSP2 using alignment to 1 protein entry: BFSP2_HUMAN:

KRT18 KRT13 KRT19 KRT20 KRT10 KRT14

KRT17 KRT15

BFSP2 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 3 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs121908938^1,2	C	pathogenic	133167457(+)	`AAGAA-/GAACTTGG`	1	--	cds¹		0	--	--	--	--
rs104893685^1,2	C	pathogenic	133169276(+)	`AGAACC/TGGGTG`	2	R W	mis¹		1		NA	4552
rs143823064^1,2		--	133116796(+)	`AATCTC/TTTTGA`	3	--	int¹ us2k¹		0	--	--	--	--
rs185231435^1,2		--	133116810(+)	`TGTTTG/TCAGTT`	3	--	int¹ us2k¹		0	--	--	--	--
rs77919320^1,2	C,F,	--	133116825(+)	`CAAAAC/TAGACT`	3	--	us2k¹ int¹		3		CSA WA	122
rs189206295^1,2		--	133116880(+)	`CCCCCA/CTCTTT`	3	--	us2k¹ int¹		0	--	--	--	--
rs146872587^1,2		--	133116927(+)	`AATATC/GTTTGG`	3	--	int¹ us2k¹		0	--	--	--	--
rs140737645^1,2		--	133117034(+)	`GTAGCC/GTGAAC`	3	--	int¹ us2k¹		0	--	--	--	--
rs73211831^1,2	C,	--	133117109(+)	`CAGTGT/CCATCC`	3	--	int¹ us2k¹		3		NA WA	240
rs112047644^1,2	C,	--	133117271(+)	`GCCAAC/TACTGA`	1	--	us2k¹		2		CSA WA	120

HapMap Linkage Disequilibrium report for BFSP2 (133118790 - 133194066 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 21 variations for BFSP2
15/20 CNVs (see all 20): 59091 91574 79916 91567 68467 91568 79915 79920 6210 79917 91569 59090 91571 79921 79919
1 Indel: 79914
Human Gene Mutation Database (HGMD): BFSP2

Locus Specific Mutation Databases (LSDB): BFSP2

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing BFSP2

DNA2.0 Custom Variant and Variant Library Synthesis for BFSP2

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

BFSP2 for disorders           About GeneDecksing

OMIM gene information: 603212
OMIM disorders: 604219  611597
UniProtKB/Swiss-Prot: BFSP2_HUMAN, Q13515

Defects in BFSP2 are the cause of cataract autosomal dominant multiple types 1 (ADC-MT1) [MIM:611597].

Cataract is an opacification of the crystalline lens of the eye that frequently results in visual impairment or

blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or

progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function.

The opacities can be nuclear, sutural, stellate cortical, lamellar, cortical, nuclear embryonic, Y-sutural, punctate

cortical, congenital or with juvenile- and adult-onset

11 diseases for BFSP2: About MalaCards

cataract cataract, autosomal dominant, multiple types 1 epidermolysis bullosa simplex cataract, juvenile-onset

cataracts, autosomal dominant epidermolysis bullosa congenital cataracts alexander disease

microphthalmia myopia blindness

2 Novoseek disease relationships for BFSP2 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
congenital cataract	74.6	1	10753642 (1)
cataract	60.2	14	17200662 (3), 10739768 (2), 10753642 (1), 17490642 (1) (see all 5)

Export disorders for BFSP2 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for BFSP2 gene, integrated from 9 sources (see all 43):
(articles sorted by number of sources associating them with BFSP2)

Utopia: connect your pdf to the dynamic
world of online information

Gene structure and cDNA sequence identify the beaded filament protein CP49 as a highly divergent type I intermediate filament protein. (PubMed id 8636093)^{1, 2, 9} Hess J.F.... FitzGerald P.G. (1996)
Autosomal-dominant congenital cataract associated with a deletion mutation in the human beaded filament protein gene BFSP2. (PubMed id 10739768)^{1, 2, 9} Jakobs P.M....Litt M. (2000)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
A juvenile-onset, progressive cataract locus on chromosome 3q21-q22 is associated with a missense mutation in the beaded filament structural protein-2. (PubMed id 10729115)^{1, 2} Conley Y.P.... Gorin M.B. (2000)
Chromosomal locations of the genes for the beaded filament proteins CP 115 and CP 47. (PubMed id 7720401)^{1, 9} Hess J.F.... FitzGerald P.G. (1995)
Progressive sutural cataract associated with a BFSP2 mutation in a Chinese family. (PubMed id 17200662)^{1, 9} Zhang L....Liu P. (2006)
Mapping of the human CP49 gene and identification of an intragenic polymorphic marker to allow genetic linkage analysis in autosomal dominant congenital cataract. (PubMed id 10753642)^{1, 9} Carter J.M....Quinlan R.A. (2000)
Primary sequence, secondary structure, gene structure, and assembly properties suggests that the lens-specific cytoskeletal protein filensin represents a novel class of intermediate filament protein. (PubMed id 9628810)^{1, 9} Hess J.F.... FitzGerald P.G. (1998)
Novel recessive BFSP2 and PITX3 mutations: insights in to mutational mechanisms from consanguineous populations. (PubMed id 21836522)¹ Aldahmesh M.A....Alkuraya F.S. (2011)
A new mutation in BFSP2 (G1091A) causes autosomal dominant congenital lamellar cataracts. (PubMed id 18958306)¹ Ma X....Zhu S.Q. (2008)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

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Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 8419	HGNC: 1041	AceView: BFSP2	Ensembl:ENSG00000170819	euGenes: HUgn8419
ECgene: BFSP2	H-InvDB: BFSP2

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for BFSP2	Pharmacogenomics, SNPs, Pathways
Human Intermediate Filament Mutation Database	http://www.interfil.org

Intellectual Property for BFSP2 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for BFSP2 gene:
Search GeneIP for patents involving BFSP2

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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BFSP2 Gene

beaded filament structural protein 2, phakinin

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BFSP2 Gene

beaded filament structural protein 2, phakinin

Aliasesfor BFSP2 gene

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Genomic Viewsfor BFSP2 gene

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Protein Domains /Familiesfor BFSP2 gene

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for BFSP2 gene

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for BFSP2 gene

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for BFSP2 gene

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for BFSP2 gene

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for BFSP2 gene

Expression
for BFSP2 gene

Orthologs
for BFSP2 gene

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for BFSP2 gene

Disorders / Diseases
for BFSP2 gene

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for BFSP2 gene

Intellectual Property
for BFSP2 gene

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for BFSP2 gene