BFSP2 cDNA ORF clone, Homo sapiens(human)

Gene
Clones
gRNAs

Summary

Gene Symbol	BFSP2
Entrez Gene ID	8419
Full Name	beaded filament structural protein 2
Synonyms	CP47,CP49,CTRCT12,LIFL-L,PHAKOSIN
General protein information	Preferred Names beaded filament structural protein 2 Names phakinin 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
Gene Type	protein-coding
Organism	Homo sapiens(human)
Genome	Chromosome: 3 Map Location: 3q22.1
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].
Disorder MIM:	603212
Disorder Html:	Cataract 12, multiple types, 611597 (3)

mRNA and Protein(s)

mRNA	Protein	Name
NM_003571.4	NP_003562.1	phakinin
XM_024453789.1	XP_024309557.1	phakinin isoform X2
XM_024453788.1	XP_024309556.1	phakinin isoform X1
XM_017007315.1	XP_016862804.1	phakinin isoform X3
NM_003571.3	NP_003562.1	phakinin

Pathways from BioSystems

Homologies

Canis lupus familiaris (dog)	BFSP2	XP_851599.1
Gallus gallus (chicken)	BFSP2	NP_990549.1
Xenopus tropicalis (tropical clawed frog)	bfsp2	XP_002937781.1
Pan troglodytes (chimpanzee)	BFSP2	XP_516760.3
Bos taurus (cattle)	BFSP2	NP_776673.1
Mus musculus (house mouse)	Bfsp2	NP_001002896.1
Rattus norvegicus (Norway rat)	Bfsp2	NP_001264363.1
	BFSP2	XP_002803046.1
Homo sapiens (human)	BFSP2	NP_003562.1
Danio rerio (zebrafish)	bfsp2	NP_001008633.1

Gene Ontology
Bibliography

Related articles in PubMed

Human alpha A-crystallin missing N-terminal domain poorly complexes with filensin and phakinin.
Chaves JM, Gupta R, Srivastava K, Srivastava O
Biochemical and biophysical research communications494(1-2)402-408(2017 12)

Architecture of the human interactome defines protein communities and disease networks.
Huttlin EL, Bruckner RJ, Paulo JA, Cannon JR, Ting L, Baltier K, Colby G, Gebreab F, Gygi MP, Parzen H, Szpyt J, Tam S, Zarraga G, Pontano-Vaites L, Swarup S, White AE, Schweppe DK, Rad R, Erickson BK, Obar RA, Guruharsha KG, Li K, Artavanis-Tsakonas S, Gygi SP, Harper JW
Nature545(7655)505-509(2017 05)

Widespread macromolecular interaction perturbations in human genetic disorders.
Sahni N, Yi S, Taipale M, Fuxman Bass JI, Coulombe-Huntington J, Yang F, Peng J, Weile J, Karras GI, Wang Y, Kov?cs IA, Kamburov A, Krykbaeva I, Lam MH, Tucker G, Khurana V, Sharma A, Liu YY, Yachie N, Zhong Q, Shen Y, Palagi A, San-Miguel A, Fan C, Balcha D, Dricot A, Jordan DM, Walsh JM, Shah AA, Yang X, Stoyanova AK, Leighton A, Calderwood MA, Jacob Y, Cusick ME, Salehi-Ashtiani K, Whitesell LJ, Sunyaev S, Berger B, Barab?si AL, Charloteaux B, Hill DE, Hao T, Roth FP, Xia Y, Walhout AJM, Lindquist S, Vidal M
Cell161(3)647-660(2015 Apr)

A novel p.G112E mutation in BFSP2 associated with autosomal dominant pulverulent cataract with sutural opacities.
Liu Q, Wang KJ, Zhu SQ
Current eye research39(10)1013-9(2014 Oct)

Novel recessive BFSP2 and PITX3 mutations: insights into mutational mechanisms from consanguineous populations.
Aldahmesh MA, Khan AO, Mohamed J, Alkuraya FS
Genetics in medicine : official journal of the American College of Medical Genetics13(11)978-81(2011 Nov)

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 following BFSP2 gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the BFSP2 cDNA ORF which is encoded by the open reading frame (ORF) sequence. ORF sequences can be delivered in our standard vector, pcDNA3.1⁺/C-(K)DYK or the vector of your choice as an expression/transfection-ready ORF clone. Not the clone you want? Click here to find your clone.

***CloneID	Accession No.	Definition	**Vector	*Turnaround time	Price (USD)
OHu21139	NM_003571.3 Latest version!	Homo sapiens beaded filament structural protein 2 (BFSP2), mRNA.	pcDNA3.1-C-(k)DYK or customized vector	in pcDNA3.1-C-(k)DYK	$159.50-$223.30 $319.00
OHu108599	NM_003571.4 Latest version!	Homo sapiens beaded filament structural protein 2 (BFSP2), mRNA.	pcDNA3.1-C-(k)DYK or customized vector	9-11	$223.30 $319.00
OHu105453	XM_024453788.1 Latest version!	Homo sapiens beaded filament structural protein 2 (BFSP2), transcript variant X1, mRNA.	pcDNA3.1-C-(k)DYK or customized vector	9-11	$69.30 $99.00
OHu105454	XM_024453789.1 Latest version!	Homo sapiens beaded filament structural protein 2 (BFSP2), transcript variant X2, mRNA.	pcDNA3.1-C-(k)DYK or customized vector	9-11	$69.30 $99.00
OHu94644	XM_017007315.1 Latest version!	Homo sapiens beaded filament structural protein 2 (BFSP2), transcript variant X3, mRNA.	pcDNA3.1-C-(k)DYK or customized vector	9-11	$223.30 $319.00

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** GenScript guarantees 100% sequence accuracy of all synthetic DNA constructs we deliver, but we do not guarantee protein expression in your experimental system. Protein expression is influenced by many factors that may vary between experiments or laboratories. In addition, please pay attention to the signal peptide, propeptide and transit peptide in target ORF, which may affect the choice of vector (N/C terminal tag vector).

***One clone ID might be correlated to multiple accession numbers, which share the same CDS sequence.

Reference Sequences (Refseq)

BFSP2 ( NM_003571.3 ) cDNA ORF clone, Homo sapiens(human) -> NP_003562.1 Homo sapiens beaded filament structural protein 2 (BFSP2), mRNA.

Price & Availability↑

CloneID	OHu21139
Clone ID Related Accession (Same CDS sequence)	NM_003571.3
Accession Version	NM_003571.3 Latest version!	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 1248bp) Protein sequence SNP
Vector	pcDNA3.1-C-(k)DYK or customized vector	User Manual
Clone information	Clone Map	MSDS
Tag on pcDNA3.1⁺/C-(K)DYK	C terminal DYKDDDDK tags
ORF Insert Method	CloneEZ™ Seamless cloning technology
Insert Structure	linear
Update Date	2018-06-29
Organism	Homo sapiens(human)
Product	phakinin
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BM696550.1, BC113520.1 and BM667774.1. This sequence is a reference standard in the RefSeqGene project. On Sep 6, 2013 this sequence version replaced NM_003571.2. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: U48224.1, BC113518.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA2161674 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

ATGAGTGAGA GGCGAGTGGT AGTGGACTTG CCCACCAGTG CCAGCTCCAG CATGCCCCTC 
CAGAGGCGCA GGGCGTCCTT CAGGGGGCCA CGGTCATCAT CCTCCCTGGA GAGCCCCCCA 
GCCTCCAGGA CCAATGCCAT GAGTGGCCTT GTCCGAGCAC CCGGGGTCTA TGTAGGAACA 
GCACCCAGTG GGTGCATAGG TGGCTTGGGT GCCCGTGTGA CCCGCCGGGC CCTCGGCATC 
AGCAGTGTCT TCCTTCAGGG CCTGCGGAGC TCAGGCCTGG CCACCGTGCC GGCTCCAGGT 
TTGGAGAGGG ACCATGGTGC TGTTGAGGAC CTAGGGGGCT GCCTGGTGGA ATATATGGCC 
AAAGTGCACG CCCTTGAGCA AGTCAGTCAG GAGCTGGAAA CACAACTGCG GATGCACCTG 
GAGAGCAAAG CCACACGCTC GGGAAACTGG GGTGCCCTAC GGGCTTCCTG GGCCAGCAGC 
TGCCAGCAGG TGGGTGAGGC AGTCTTGGAA AATGCCCGGC TCATGCTGCA GACAGAAACT 
ATCCAGGCCG GAGCAGATGA CTTTAAAGAG AGATATGAAA ATGAGCAGCC ATTTCGAAAG 
GCAGCAGAAG AGGAAATTAA CTCTCTGTAT AAAGTCATTG ATGAGGCTAA TTTGACTAAA 
ATGGACCTGG AGAGTCAAAT AGAAAGTCTG AAAGAAGAAC TTGGCTCTCT ATCAAGAAAC 
TATGAAGAGG ATGTGAAGCT GCTGCACAAA CAGTTGGCAG GGTGTGAGCT GGAACAAATG 
GATGCTCCCA TTGGCACTGG TCTGGACGAC ATCCTTGAGA CGATCAGAAT TCAGTGGGAG 
AGAGATGTTG AAAAGAACCG GGTGGAGGCA GGAGCCCTGC TCCAAGCTAA GCAACAGGCG 
GAGGTGGCCC ACATGTCCCA GACCCAGGAG GAGAAGCTGG CAGCTGCCCT CAGGGTGGAG 
TTACACAACA CTTCGTGCCA AGTCCAGAGC CTCCAGGCTG AGACAGAATC CTTACGTGCC 
CTGAAACGAG GCCTGGAGAA CACCTTGCAC GATGCCAAGC ACTGGCATGA CATGGAGCTC 
CAGAACCTGG GCGCTGTGGT CGGCCGGCTG GAGGCGGAGC TCAGGGAAAT CCGAGCGGAG 
GCGGAGCAGC AGCAACAGGA GCGCGCGCAT CTGCTGGCCC GCAAGTGCCA GCTGCAGAAG 
GACGTGGCGT CCTACCACGC CCTGCTGGAC AGGGAGGAGA GCGGCTGA

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

RefSeq	NP_003562.1
CDS	90..1337
Translation	MSERRVVVDLPTSASSSMPLQRRRASFRGPRSSSSLESPPASRTNAMSGLVRAPGVYVGTAPSGCIGGLGARVTRRALGISSVFLQGLRSSGLATVPAPGLERDHGAVEDLGGCLVEYMAKVHALEQVSQELETQLRMHLESKATRSGNWGALRASWASSCQQVGEAVLENARLMLQTETIQAGADDFKERYENEQPFRKAAEEEINSLYKVIDEANLTKMDLESQIESLKEELGSLSRNYEEDVKLLHKQLAGCELEQMDAPIGTGLDDILETIRIQWERDVEKNRVEAGALLQAKQQAEVAHMSQTQEEKLAAALRVELHNTSCQVQSLQAETESLRALKRGLENTLHDAKHWHDMELQNLGAVVGRLEAELREIRAEAEQQQQERAHLLARKCQLQKDVASYHALLDREESG

Target ORF information:

RefSeq Version	NM_003571.3
Organism	Homo sapiens(human)
Definition	Homo sapiens beaded filament structural protein 2 (BFSP2), mRNA.

Target ORF information:

Epitope	DYKDDDDK
Bacterial selection	AMP^R
Mammalian selection	Neo^R
Vector	pcDNA3.1⁺/C-(K)DYK

NM_003571.3

ORF Insert Sequence:

ATGAGTGAGA GGCGAGTGGT AGTGGACTTG CCCACCAGTG CCAGCTCCAG CATGCCCCTC 
CAGAGGCGCA GGGCGTCCTT CAGGGGGCCA CGGTCATCAT CCTCCCTGGA GAGCCCCCCA 
GCCTCCAGGA CCAATGCCAT GAGTGGCCTT GTCCGAGCAC CCGGGGTCTA TGTAGGAACA 
GCACCCAGTG GGTGCATAGG TGGCTTGGGT GCCCGTGTGA CCCGCCGGGC CCTCGGCATC 
AGCAGTGTCT TCCTTCAGGG CCTGCGGAGC TCAGGCCTGG CCACCGTGCC GGCTCCAGGT 
TTGGAGAGGG ACCATGGTGC TGTTGAGGAC CTAGGGGGCT GCCTGGTGGA ATATATGGCC 
AAAGTGCACG CCCTTGAGCA AGTCAGTCAG GAGCTGGAAA CACAACTGCG GATGCACCTG 
GAGAGCAAAG CCACACGCTC GGGAAACTGG GGTGCCCTAC GGGCTTCCTG GGCCAGCAGC 
TGCCAGCAGG TGGGTGAGGC AGTCTTGGAA AATGCCCGGC TCATGCTGCA GACAGAAACT 
ATCCAGGCCG GAGCAGATGA CTTTAAAGAG AGATATGAAA ATGAGCAGCC ATTTCGAAAG 
GCAGCAGAAG AGGAAATTAA CTCTCTGTAT AAAGTCATTG ATGAGGCTAA TTTGACTAAA 
ATGGACCTGG AGAGTCAAAT AGAAAGTCTG AAAGAAGAAC TTGGCTCTCT ATCAAGAAAC 
TATGAAGAGG ATGTGAAGCT GCTGCACAAA CAGTTGGCAG GGTGTGAGCT GGAACAAATG 
GATGCTCCCA TTGGCACTGG TCTGGACGAC ATCCTTGAGA CGATCAGAAT TCAGTGGGAG 
AGAGATGTTG AAAAGAACCG GGTGGAGGCA GGAGCCCTGC TCCAAGCTAA GCAACAGGCG 
GAGGTGGCCC ACATGTCCCA GACCCAGGAG GAGAAGCTGG CAGCTGCCCT CAGGGTGGAG 
TTACACAACA CTTCGTGCCA AGTCCAGAGC CTCCAGGCTG AGACAGAATC CTTACGTGCC 
CTGAAACGAG GCCTGGAGAA CACCTTGCAC GATGCCAAGC ACTGGCATGA CATGGAGCTC 
CAGAACCTGG GCGCTGTGGT CGGCCGGCTG GAGGCGGAGC TCAGGGAAAT CCGAGCGGAG 
GCGGAGCAGC AGCAACAGGA GCGCGCGCAT CTGCTGGCCC GCAAGTGCCA GCTGCAGAAG 
GACGTGGCGT CCTACCACGC CCTGCTGGAC AGGGAGGAGA GCGGCTGA

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

BFSP2 ( NM_003571.4 ) cDNA ORF clone, Homo sapiens(human) -> NP_003562.1 Homo sapiens beaded filament structural protein 2 (BFSP2), mRNA.

Price & Availability↑

CloneID	OHu108599
Clone ID Related Accession (Same CDS sequence)	NM_003571.4
Accession Version	NM_003571.4 Latest version!	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 1248bp) Protein sequence SNP
Vector	pcDNA3.1-C-(k)DYK or customized vector	User Manual
Clone information	Clone Map	MSDS
Tag on pcDNA3.1⁺/C-(K)DYK	C terminal DYKDDDDK tags
ORF Insert Method	CloneEZ™ Seamless cloning technology
Insert Structure	linear
Update Date	2019-10-10
Organism	Homo sapiens(human)
Product	phakinin
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC055753.21 and AC022296.34. On May 17, 2019 this sequence version replaced NM_003571.3. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC113518.1, U48224.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA2161674 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000302334.3/ ENSP00000304987.2 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## COMPLETENESS: complete on the 3' end.

ATGAGTGAGA GGCGAGTGGT AGTGGACTTG CCCACCAGTG CCAGCTCCAG CATGCCCCTC 
CAGAGGCGCA GGGCGTCCTT CAGGGGGCCA CGGTCATCAT CCTCCCTGGA GAGCCCCCCA 
GCCTCCAGGA CCAATGCCAT GAGTGGCCTT GTCCGAGCAC CCGGGGTCTA TGTAGGAACA 
GCACCCAGTG GGTGCATAGG TGGCTTGGGT GCCCGTGTGA CCCGCCGGGC CCTCGGCATC 
AGCAGTGTCT TCCTTCAGGG CCTGCGGAGC TCAGGCCTGG CCACCGTGCC GGCTCCAGGT 
TTGGAGAGGG ACCATGGTGC TGTTGAGGAC CTAGGGGGCT GCCTGGTGGA ATATATGGCC 
AAAGTGCACG CCCTTGAGCA AGTCAGTCAG GAGCTGGAAA CACAACTGCG GATGCACCTG 
GAGAGCAAAG CCACACGCTC GGGAAACTGG GGTGCCCTAC GGGCTTCCTG GGCCAGCAGC 
TGCCAGCAGG TGGGTGAGGC AGTCTTGGAA AATGCCCGGC TCATGCTGCA GACAGAAACT 
ATCCAGGCCG GAGCAGATGA CTTTAAAGAG AGATATGAAA ATGAGCAGCC ATTTCGAAAG 
GCGGCAGAAG AGGAAATTAA CTCTCTGTAT AAAGTCATTG ATGAGGCTAA TTTGACTAAA 
ATGGACCTGG AGAGTCAAAT AGAAAGTCTG AAAGAAGAAC TTGGCTCTCT ATCAAGAAAC 
TATGAAGAGG ATGTGAAGCT GCTGCACAAA CAGTTGGCAG GGTGTGAGCT GGAACAAATG 
GATGCTCCCA TTGGCACTGG TCTGGACGAC ATCCTTGAGA CGATCAGAAT TCAGTGGGAG 
AGAGATGTTG AAAAGAACCG GGTGGAGGCA GGAGCCCTGC TCCAAGCTAA GCAACAGGCG 
GAGGTGGCCC ACATGTCCCA GACCCAGGAG GAGAAGCTGG CAGCTGCCCT CAGGGTGGAG 
TTACACAACA CTTCGTGCCA AGTCCAGAGC CTCCAGGCTG AGACAGAATC CTTACGTGCC 
CTGAAACGAG GCCTGGAGAA CACCTTGCAC GATGCCAAGC ACTGGCATGA CATGGAGCTC 
CAGAACCTGG GCGCTGTGGT CGGCCGGCTG GAGGCGGAGC TCAGGGAAAT CCGAGCGGAG 
GCGGAGCAGC AGCAACAGGA GCGCGCGCAT CTGCTGGCCC GCAAGTGCCA GCTGCAGAAG 
GACGTGGCGT CCTACCACGC CCTGCTGGAC AGGGAGGAGA GCGGCTGA

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

RefSeq	NP_003562.1
CDS	29..1276
Translation	MSERRVVVDLPTSASSSMPLQRRRASFRGPRSSSSLESPPASRTNAMSGLVRAPGVYVGTAPSGCIGGLGARVTRRALGISSVFLQGLRSSGLATVPAPGLERDHGAVEDLGGCLVEYMAKVHALEQVSQELETQLRMHLESKATRSGNWGALRASWASSCQQVGEAVLENARLMLQTETIQAGADDFKERYENEQPFRKAAEEEINSLYKVIDEANLTKMDLESQIESLKEELGSLSRNYEEDVKLLHKQLAGCELEQMDAPIGTGLDDILETIRIQWERDVEKNRVEAGALLQAKQQAEVAHMSQTQEEKLAAALRVELHNTSCQVQSLQAETESLRALKRGLENTLHDAKHWHDMELQNLGAVVGRLEAELREIRAEAEQQQQERAHLLARKCQLQKDVASYHALLDREESG

Target ORF information:

RefSeq Version	NM_003571.4
Organism	Homo sapiens(human)
Definition	Homo sapiens beaded filament structural protein 2 (BFSP2), mRNA.

Target ORF information:

Epitope	DYKDDDDK
Bacterial selection	AMP^R
Mammalian selection	Neo^R
Vector	pcDNA3.1⁺/C-(K)DYK

NM_003571.4

ORF Insert Sequence:

ATGAGTGAGA GGCGAGTGGT AGTGGACTTG CCCACCAGTG CCAGCTCCAG CATGCCCCTC 
CAGAGGCGCA GGGCGTCCTT CAGGGGGCCA CGGTCATCAT CCTCCCTGGA GAGCCCCCCA 
GCCTCCAGGA CCAATGCCAT GAGTGGCCTT GTCCGAGCAC CCGGGGTCTA TGTAGGAACA 
GCACCCAGTG GGTGCATAGG TGGCTTGGGT GCCCGTGTGA CCCGCCGGGC CCTCGGCATC 
AGCAGTGTCT TCCTTCAGGG CCTGCGGAGC TCAGGCCTGG CCACCGTGCC GGCTCCAGGT 
TTGGAGAGGG ACCATGGTGC TGTTGAGGAC CTAGGGGGCT GCCTGGTGGA ATATATGGCC 
AAAGTGCACG CCCTTGAGCA AGTCAGTCAG GAGCTGGAAA CACAACTGCG GATGCACCTG 
GAGAGCAAAG CCACACGCTC GGGAAACTGG GGTGCCCTAC GGGCTTCCTG GGCCAGCAGC 
TGCCAGCAGG TGGGTGAGGC AGTCTTGGAA AATGCCCGGC TCATGCTGCA GACAGAAACT 
ATCCAGGCCG GAGCAGATGA CTTTAAAGAG AGATATGAAA ATGAGCAGCC ATTTCGAAAG 
GCGGCAGAAG AGGAAATTAA CTCTCTGTAT AAAGTCATTG ATGAGGCTAA TTTGACTAAA 
ATGGACCTGG AGAGTCAAAT AGAAAGTCTG AAAGAAGAAC TTGGCTCTCT ATCAAGAAAC 
TATGAAGAGG ATGTGAAGCT GCTGCACAAA CAGTTGGCAG GGTGTGAGCT GGAACAAATG 
GATGCTCCCA TTGGCACTGG TCTGGACGAC ATCCTTGAGA CGATCAGAAT TCAGTGGGAG 
AGAGATGTTG AAAAGAACCG GGTGGAGGCA GGAGCCCTGC TCCAAGCTAA GCAACAGGCG 
GAGGTGGCCC ACATGTCCCA GACCCAGGAG GAGAAGCTGG CAGCTGCCCT CAGGGTGGAG 
TTACACAACA CTTCGTGCCA AGTCCAGAGC CTCCAGGCTG AGACAGAATC CTTACGTGCC 
CTGAAACGAG GCCTGGAGAA CACCTTGCAC GATGCCAAGC ACTGGCATGA CATGGAGCTC 
CAGAACCTGG GCGCTGTGGT CGGCCGGCTG GAGGCGGAGC TCAGGGAAAT CCGAGCGGAG 
GCGGAGCAGC AGCAACAGGA GCGCGCGCAT CTGCTGGCCC GCAAGTGCCA GCTGCAGAAG 
GACGTGGCGT CCTACCACGC CCTGCTGGAC AGGGAGGAGA GCGGCTGA

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

BFSP2 ( XM_024453788.1 ) cDNA ORF clone, Homo sapiens(human) -> XP_024309556.1 Homo sapiens beaded filament structural protein 2 (BFSP2), transcript variant X1, mRNA.

Price & Availability↑

CloneID	OHu105453
Clone ID Related Accession (Same CDS sequence)	XM_024453788.1
Accession Version	XM_024453788.1 Latest version!	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 588bp) Protein sequence SNP
Vector	pcDNA3.1-C-(k)DYK or customized vector	User Manual
Clone information	Clone Map	MSDS
Tag on pcDNA3.1⁺/C-(K)DYK	C terminal DYKDDDDK tags
ORF Insert Method	CloneEZ™ Seamless cloning technology
Insert Structure	linear
Update Date	2019-12-05
Organism	Homo sapiens(human)
Product	phakinin isoform X1
Comment	Comment: MODEL REFSEQ: This record is predicted by automated computational analysis. This record is derived from a genomic sequence (NC_000003.12) annotated using gene prediction method: Gnomon, supported by mRNA and EST evidence. Also see: Documentation of NCBI's Annotation Process ##Genome-Annotation-Data-START## Annotation Provider :: NCBI Annotation Status :: Updated annotation Annotation Name :: Homo sapiens Updated Annotation Release 109.20191205 Annotation Version :: 109.20191205 Annotation Pipeline :: NCBI eukaryotic genome annotation pipeline Annotation Software Version :: 8.3 Annotation Method :: Best-placed RefSeq; propagated RefSeq model Features Annotated :: Gene; mRNA; CDS; ncRNA ##Genome-Annotation-Data-END##

ATGGACCTGG AGAGTCAAAT AGAAAGTCTG AAAGAAGAAC TTGGCTCTCT ATCAAGAAAC 
TATGAAGAGG ATGTGAAGCT GCTGCACAAA CAGTTGGCAG GGTGTGAGCT GGAACAAATG 
GATGCTCCCA TTGGCACTGG TCTGGACGAC ATCCTTGAGA CGATCAGAAT TCAGTGGGAG 
AGAGATGTTG AAAAGAACCG GGTGGAGGCA GGAGCCCTGC TCCAAGCTAA GCAACAGGCG 
GAGGTGGCCC ACATGTCCCA GACCCAGGAG GAGAAGCTGG CAGCTGCCCT CAGGGTGGAG 
TTACACAACA CTTCGTGCCA AGTCCAGAGC CTCCAGGCTG AGACAGAATC CTTACGTGCC 
CTGAAACGAG GCCTGGAGAA CACCTTGCAC GATGCCAAGC ACTGGCATGA CATGGAGCTC 
CAGAACCTGG GCGCTGTGGT CGGCCGGCTG GAGGCGGAGC TCAGGGAAAT CCGAGCGGAG 
GCGGAGCAGC AGCAACAGGA GCGCGCGCAT CTGCTGGCCC GCAAGTGCCA GCTGCAGAAG 
GACGTGGCGT CCTACCACGC CCTGCTGGAC AGGGAGGAGA GCGGCTGA

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

RefSeq	XP_024309556.1
CDS	635..1222
Translation	MDLESQIESLKEELGSLSRNYEEDVKLLHKQLAGCELEQMDAPIGTGLDDILETIRIQWERDVEKNRVEAGALLQAKQQAEVAHMSQTQEEKLAAALRVELHNTSCQVQSLQAETESLRALKRGLENTLHDAKHWHDMELQNLGAVVGRLEAELREIRAEAEQQQQERAHLLARKCQLQKDVASYHALLDREESG

Target ORF information:

RefSeq Version	XM_024453788.1
Organism	Homo sapiens(human)
Definition	Homo sapiens beaded filament structural protein 2 (BFSP2), transcript variant X1, mRNA.

Target ORF information:

Epitope	DYKDDDDK
Bacterial selection	AMP^R
Mammalian selection	Neo^R
Vector	pcDNA3.1⁺/C-(K)DYK

XM_024453788.1

ORF Insert Sequence:

ATGGACCTGG AGAGTCAAAT AGAAAGTCTG AAAGAAGAAC TTGGCTCTCT ATCAAGAAAC 
TATGAAGAGG ATGTGAAGCT GCTGCACAAA CAGTTGGCAG GGTGTGAGCT GGAACAAATG 
GATGCTCCCA TTGGCACTGG TCTGGACGAC ATCCTTGAGA CGATCAGAAT TCAGTGGGAG 
AGAGATGTTG AAAAGAACCG GGTGGAGGCA GGAGCCCTGC TCCAAGCTAA GCAACAGGCG 
GAGGTGGCCC ACATGTCCCA GACCCAGGAG GAGAAGCTGG CAGCTGCCCT CAGGGTGGAG 
TTACACAACA CTTCGTGCCA AGTCCAGAGC CTCCAGGCTG AGACAGAATC CTTACGTGCC 
CTGAAACGAG GCCTGGAGAA CACCTTGCAC GATGCCAAGC ACTGGCATGA CATGGAGCTC 
CAGAACCTGG GCGCTGTGGT CGGCCGGCTG GAGGCGGAGC TCAGGGAAAT CCGAGCGGAG 
GCGGAGCAGC AGCAACAGGA GCGCGCGCAT CTGCTGGCCC GCAAGTGCCA GCTGCAGAAG 
GACGTGGCGT CCTACCACGC CCTGCTGGAC AGGGAGGAGA GCGGCTGA

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

BFSP2 ( XM_024453789.1 ) cDNA ORF clone, Homo sapiens(human) -> XP_024309557.1 Homo sapiens beaded filament structural protein 2 (BFSP2), transcript variant X2, mRNA.

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CloneID	OHu105454
Clone ID Related Accession (Same CDS sequence)	XM_024453789.1
Accession Version	XM_024453789.1 Latest version!	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 471bp) Protein sequence SNP
Vector	pcDNA3.1-C-(k)DYK or customized vector	User Manual
Clone information	Clone Map	MSDS
Tag on pcDNA3.1⁺/C-(K)DYK	C terminal DYKDDDDK tags
ORF Insert Method	CloneEZ™ Seamless cloning technology
Insert Structure	linear
Update Date	2019-12-05
Organism	Homo sapiens(human)
Product	phakinin isoform X2
Comment	Comment: MODEL REFSEQ: This record is predicted by automated computational analysis. This record is derived from a genomic sequence (NC_000003.12) annotated using gene prediction method: Gnomon, supported by mRNA and EST evidence. Also see: Documentation of NCBI's Annotation Process ##Genome-Annotation-Data-START## Annotation Provider :: NCBI Annotation Status :: Updated annotation Annotation Name :: Homo sapiens Updated Annotation Release 109.20191205 Annotation Version :: 109.20191205 Annotation Pipeline :: NCBI eukaryotic genome annotation pipeline Annotation Software Version :: 8.3 Annotation Method :: Best-placed RefSeq; propagated RefSeq model Features Annotated :: Gene; mRNA; CDS; ncRNA ##Genome-Annotation-Data-END##

ATGGATGCTC CCATTGGCAC TGGTCTGGAC GACATCCTTG AGACGATCAG AATTCAGTGG 
GAGAGAGATG TTGAAAAGAA CCGGGTGGAG GCAGGAGCCC TGCTCCAAGC TAAGCAACAG 
GCGGAGGTGG CCCACATGTC CCAGACCCAG GAGGAGAAGC TGGCAGCTGC CCTCAGGGTG 
GAGTTACACA ACACTTCGTG CCAAGTCCAG AGCCTCCAGG CTGAGACAGA ATCCTTACGT 
GCCCTGAAAC GAGGCCTGGA GAACACCTTG CACGATGCCA AGCACTGGCA TGACATGGAG 
CTCCAGAACC TGGGCGCTGT GGTCGGCCGG CTGGAGGCGG AGCTCAGGGA AATCCGAGCG 
GAGGCGGAGC AGCAGCAACA GGAGCGCGCG CATCTGCTGG CCCGCAAGTG CCAGCTGCAG 
AAGGACGTGG CGTCCTACCA CGCCCTGCTG GACAGGGAGG AGAGCGGCTG A

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

RefSeq	XP_024309557.1
CDS	404..874
Translation	MDAPIGTGLDDILETIRIQWERDVEKNRVEAGALLQAKQQAEVAHMSQTQEEKLAAALRVELHNTSCQVQSLQAETESLRALKRGLENTLHDAKHWHDMELQNLGAVVGRLEAELREIRAEAEQQQQERAHLLARKCQLQKDVASYHALLDREESG

Target ORF information:

RefSeq Version	XM_024453789.1
Organism	Homo sapiens(human)
Definition	Homo sapiens beaded filament structural protein 2 (BFSP2), transcript variant X2, mRNA.

Target ORF information:

Epitope	DYKDDDDK
Bacterial selection	AMP^R
Mammalian selection	Neo^R
Vector	pcDNA3.1⁺/C-(K)DYK

XM_024453789.1

ORF Insert Sequence:

ATGGATGCTC CCATTGGCAC TGGTCTGGAC GACATCCTTG AGACGATCAG AATTCAGTGG 
GAGAGAGATG TTGAAAAGAA CCGGGTGGAG GCAGGAGCCC TGCTCCAAGC TAAGCAACAG 
GCGGAGGTGG CCCACATGTC CCAGACCCAG GAGGAGAAGC TGGCAGCTGC CCTCAGGGTG 
GAGTTACACA ACACTTCGTG CCAAGTCCAG AGCCTCCAGG CTGAGACAGA ATCCTTACGT 
GCCCTGAAAC GAGGCCTGGA GAACACCTTG CACGATGCCA AGCACTGGCA TGACATGGAG 
CTCCAGAACC TGGGCGCTGT GGTCGGCCGG CTGGAGGCGG AGCTCAGGGA AATCCGAGCG 
GAGGCGGAGC AGCAGCAACA GGAGCGCGCG CATCTGCTGG CCCGCAAGTG CCAGCTGCAG 
AAGGACGTGG CGTCCTACCA CGCCCTGCTG GACAGGGAGG AGAGCGGCTG A

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

BFSP2 ( XM_017007315.1 ) cDNA ORF clone, Homo sapiens(human) -> XP_016862804.1 Homo sapiens beaded filament structural protein 2 (BFSP2), transcript variant X3, mRNA.

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CloneID	OHu94644
Clone ID Related Accession (Same CDS sequence)	XM_017007315.1
Accession Version	XM_017007315.1 Latest version!	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 1248bp) Protein sequence SNP
Vector	pcDNA3.1-C-(k)DYK or customized vector	User Manual
Clone information	Clone Map	MSDS
Tag on pcDNA3.1⁺/C-(K)DYK	C terminal DYKDDDDK tags
ORF Insert Method	CloneEZ™ Seamless cloning technology
Insert Structure	linear
Update Date	2019-12-05
Organism	Homo sapiens(human)
Product	phakinin isoform X3
Comment	Comment: MODEL REFSEQ: This record is predicted by automated computational analysis. This record is derived from a genomic sequence (NC_000003.12) annotated using gene prediction method: Gnomon, supported by EST evidence. Also see: Documentation of NCBI's Annotation Process ##Genome-Annotation-Data-START## Annotation Provider :: NCBI Annotation Status :: Updated annotation Annotation Name :: Homo sapiens Updated Annotation Release 109.20191205 Annotation Version :: 109.20191205 Annotation Pipeline :: NCBI eukaryotic genome annotation pipeline Annotation Software Version :: 8.3 Annotation Method :: Best-placed RefSeq; propagated RefSeq model Features Annotated :: Gene; mRNA; CDS; ncRNA ##Genome-Annotation-Data-END##

ATGAGTGAGA GGCGAGTGGT AGTGGACTTG CCCACCAGTG CCAGCTCCAG CATGCCCCTC 
CAGAGGCGCA GGGCGTCCTT CAGGGGGCCA CGGTCATCAT CCTCCCTGGA GAGCCCCCCA 
GCCTCCAGGA CCAATGCCAT GAGTGGCCTT GTCCGAGCAC CCGGGGTCTA TGTAGGAACA 
GCACCCAGTG GGTGCATAGG TGGCTTGGGT GCCCGTGTGA CCCGCCGGGC CCTCGGCATC 
AGCAGTGTCT TCCTTCAGGG CCTGCGGAGC TCAGGCCTGG CCACCGTGCC GGCTCCAGGT 
TTGGAGAGGG ACCATGGTGC TGTTGAGGAC CTAGGGGGCT GCCTGGTGGA ATATATGGCC 
AAAGTGCACG CCCTTGAGCA AGTCAGTCAG GAGCTGGAAA CACAACTGCG GATGCACCTG 
GAGAGCAAAG CCACACGCTC GGGAAACTGG GGTGCCCTAC GGGCTTCCTG GGCCAGCAGC 
TGCCAGCAGG TGGGTGAGGC AGTCTTGGAA AATGCCCGGC TCATGCTGCA GACAGAAACT 
ATCCAGGCCG GAGCAGATGA CTTTAAAGAG AGATATGAAA ATGAGCAGCC ATTTCGAAAG 
GCGGCAGAAG AGGAAATTAA CTCTCTGTAT AAAGTCATTG ATGAGGCTAA TTTGACTAAA 
ATGGACCTGG AGAGTCAAAT AGAAAGTCTG AAAGAAGAAC TTGGCTCTCT ATCAAGAAAC 
TATGAAGAGG ATGTGAAGCT GCTGCACAAA CAGTTGGCAG GGTGTGAGCT GGAACAAATG 
GATGCTCCCA TTGGCACTGG TCTGGACGAC ATCCTTGAGA CGATCAGAAT TCAGTGGGAG 
AGAGATGTTG AAAAGAACCG GGTGGAGGCA GGAGCCCTGC TCCAAGCTAA GCAACAGGCG 
GAGGTGGCCC ACATGTCCCA GACCCAGGAG GAGAAGCTGG CAGCTGCCCT CAGGGTGGAG 
TTACACAACA CTTCGTGCCA AGTCCAGAGC CTCCAGGCTG AGACAGAATC CTTACGTGCC 
CTGAAACGAG GCCTGGAGAA CACCTTGCAC GATGCCAAGC ACTGGCATGA CATGGAGCTC 
CAGAACCTGG GCGCTGTGGT CGGCCGGCTG GAGGCGGAGC TCAGGGAAAT CCGAGCGGAG 
GCGGAGCAGC AGCAACAGGA GCGCGCGCAT CTGCTGGCCC GCAAGTGCCA GCTGCAGAAG 
GACGTGGCGT CCTACCACGC CCTGCTGGAC AGGGAGGAGA GCGGGTAA

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

RefSeq	XP_016862804.1
CDS	2203..3450
Translation	MSERRVVVDLPTSASSSMPLQRRRASFRGPRSSSSLESPPASRTNAMSGLVRAPGVYVGTAPSGCIGGLGARVTRRALGISSVFLQGLRSSGLATVPAPGLERDHGAVEDLGGCLVEYMAKVHALEQVSQELETQLRMHLESKATRSGNWGALRASWASSCQQVGEAVLENARLMLQTETIQAGADDFKERYENEQPFRKAAEEEINSLYKVIDEANLTKMDLESQIESLKEELGSLSRNYEEDVKLLHKQLAGCELEQMDAPIGTGLDDILETIRIQWERDVEKNRVEAGALLQAKQQAEVAHMSQTQEEKLAAALRVELHNTSCQVQSLQAETESLRALKRGLENTLHDAKHWHDMELQNLGAVVGRLEAELREIRAEAEQQQQERAHLLARKCQLQKDVASYHALLDREESG

Target ORF information:

RefSeq Version	XM_017007315.1
Organism	Homo sapiens(human)
Definition	Homo sapiens beaded filament structural protein 2 (BFSP2), transcript variant X3, mRNA.

Target ORF information:

Epitope	DYKDDDDK
Bacterial selection	AMP^R
Mammalian selection	Neo^R
Vector	pcDNA3.1⁺/C-(K)DYK

XM_017007315.1

ORF Insert Sequence:

ATGAGTGAGA GGCGAGTGGT AGTGGACTTG CCCACCAGTG CCAGCTCCAG CATGCCCCTC 
CAGAGGCGCA GGGCGTCCTT CAGGGGGCCA CGGTCATCAT CCTCCCTGGA GAGCCCCCCA 
GCCTCCAGGA CCAATGCCAT GAGTGGCCTT GTCCGAGCAC CCGGGGTCTA TGTAGGAACA 
GCACCCAGTG GGTGCATAGG TGGCTTGGGT GCCCGTGTGA CCCGCCGGGC CCTCGGCATC 
AGCAGTGTCT TCCTTCAGGG CCTGCGGAGC TCAGGCCTGG CCACCGTGCC GGCTCCAGGT 
TTGGAGAGGG ACCATGGTGC TGTTGAGGAC CTAGGGGGCT GCCTGGTGGA ATATATGGCC 
AAAGTGCACG CCCTTGAGCA AGTCAGTCAG GAGCTGGAAA CACAACTGCG GATGCACCTG 
GAGAGCAAAG CCACACGCTC GGGAAACTGG GGTGCCCTAC GGGCTTCCTG GGCCAGCAGC 
TGCCAGCAGG TGGGTGAGGC AGTCTTGGAA AATGCCCGGC TCATGCTGCA GACAGAAACT 
ATCCAGGCCG GAGCAGATGA CTTTAAAGAG AGATATGAAA ATGAGCAGCC ATTTCGAAAG 
GCGGCAGAAG AGGAAATTAA CTCTCTGTAT AAAGTCATTG ATGAGGCTAA TTTGACTAAA 
ATGGACCTGG AGAGTCAAAT AGAAAGTCTG AAAGAAGAAC TTGGCTCTCT ATCAAGAAAC 
TATGAAGAGG ATGTGAAGCT GCTGCACAAA CAGTTGGCAG GGTGTGAGCT GGAACAAATG 
GATGCTCCCA TTGGCACTGG TCTGGACGAC ATCCTTGAGA CGATCAGAAT TCAGTGGGAG 
AGAGATGTTG AAAAGAACCG GGTGGAGGCA GGAGCCCTGC TCCAAGCTAA GCAACAGGCG 
GAGGTGGCCC ACATGTCCCA GACCCAGGAG GAGAAGCTGG CAGCTGCCCT CAGGGTGGAG 
TTACACAACA CTTCGTGCCA AGTCCAGAGC CTCCAGGCTG AGACAGAATC CTTACGTGCC 
CTGAAACGAG GCCTGGAGAA CACCTTGCAC GATGCCAAGC ACTGGCATGA CATGGAGCTC 
CAGAACCTGG GCGCTGTGGT CGGCCGGCTG GAGGCGGAGC TCAGGGAAAT CCGAGCGGAG 
GCGGAGCAGC AGCAACAGGA GCGCGCGCAT CTGCTGGCCC GCAAGTGCCA GCTGCAGAAG 
GACGTGGCGT CCTACCACGC CCTGCTGGAC AGGGAGGAGA GCGGGTAA

The stop codons will be deleted if pcDNA3.1⁺/C-(K)DYK vector is selected.

PubMed

Human alpha A-crystallin missing N-terminal domain poorly complexes with filensin and phakinin.
Biochemical and biophysical research communications494(1-2)402-408(2017 12)
Chaves JM,Gupta R,Srivastava K,Srivastava O

Architecture of the human interactome defines protein communities and disease networks.
Nature545(7655)505-509(2017 05)
Huttlin EL,Bruckner RJ,Paulo JA,Cannon JR,Ting L,Baltier K,Colby G,Gebreab F,Gygi MP,Parzen H,Szpyt J,Tam S,Zarraga G,Pontano-Vaites L,Swarup S,White AE,Schweppe DK,Rad R,Erickson BK,Obar RA,Guruharsha KG,Li K,Artavanis-Tsakonas S,Gygi SP,Harper JW

Widespread macromolecular interaction perturbations in human genetic disorders.
Cell161(3)647-660(2015 Apr)
Sahni N,Yi S,Taipale M,Fuxman Bass JI,Coulombe-Huntington J,Yang F,Peng J,Weile J,Karras GI,Wang Y,Kov?cs IA,Kamburov A,Krykbaeva I,Lam MH,Tucker G,Khurana V,Sharma A,Liu YY,Yachie N,Zhong Q,Shen Y,Palagi A,San-Miguel A,Fan C,Balcha D,Dricot A,Jordan DM,Walsh JM,Shah AA,Yang X,Stoyanova AK,Leighton A,Calderwood MA,Jacob Y,Cusick ME,Salehi-Ashtiani K,Whitesell LJ,Sunyaev S,Berger B,Barab?si AL,Charloteaux B,Hill DE,Hao T,Roth FP,Xia Y,Walhout AJM,Lindquist S,Vidal M

A novel p.G112E mutation in BFSP2 associated with autosomal dominant pulverulent cataract with sutural opacities.
Current eye research39(10)1013-9(2014 Oct)
Liu Q,Wang KJ,Zhu SQ

Novel recessive BFSP2 and PITX3 mutations: insights into mutational mechanisms from consanguineous populations.
Genetics in medicine : official journal of the American College of Medical Genetics13(11)978-81(2011 Nov)
Aldahmesh MA,Khan AO,Mohamed J,Alkuraya FS

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BFSP2 cDNA ORF clone, Homo sapiens(human)

Gene

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gRNAs

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Target ORF information:

Target ORF information:

ORF Insert Sequence:

Target ORF information:

Target ORF information:

ORF Insert Sequence:

Target ORF information:

Target ORF information:

ORF Insert Sequence:

Target ORF information:

Target ORF information:

ORF Insert Sequence:

Target ORF information:

Target ORF information:

ORF Insert Sequence:

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