BSND cDNA ORF clone, Homo sapiens(human)

Gene
Clones
gRNAs

Summary

Gene Symbol	BSND
Entrez Gene ID	7809
Full Name	barttin CLCNK type accessory beta subunit
Synonyms	BART,DFNB73
General protein information	Preferred Names barttin CLCNK type accessory beta subunit Names barttin Bartter syndrome, infantile, with sensorineural deafness (Barttin) barttin CLCNK-type chloride channel accessory beta subunit deafness, autosomal recessive 73
Gene Type	protein-coding
Organism	Homo sapiens(human)
Genome	Chromosome: 1 Map Location: 1p32.3
Summary	This gene encodes an essential beta subunit for CLC chloride channels. These heteromeric channels localize to basolateral membranes of renal tubules and of potassium-secreting epithelia of the inner ear. Mutations in this gene have been associated with Bartter syndrome with sensorineural deafness. [provided by RefSeq, Jul 2008].
Disorder MIM:	606412
Disorder Html:	Bartter syndrome, type 4a, 602522 (3); Sensorineural deafness with mild renal dysfunction, 602522 (3)

mRNA and Protein(s)

mRNA	Protein	Name
NM_057176.2	NP_476517.1	barttin
NM_057176.3	NP_476517.1	barttin

Pathways from BioSystems

Homologies

Canis lupus familiaris (dog)	BSND	XP_003434700.1
Xenopus tropicalis (tropical clawed frog)	bsnd	XP_002931511.1
Pan troglodytes (chimpanzee)	BSND	XP_001143070.2
Homo sapiens (human)	BSND	NP_476517.1
Bos taurus (cattle)	BSND	NP_001180013.1
Rattus norvegicus (Norway rat)	Bsnd	NP_620435.1
	BSND	XP_001114228.1
Mus musculus (house mouse)	Bsnd	NP_536706.2

Gene Ontology
Bibliography

Related articles in PubMed

BSND is a Novel Immunohistochemical Marker for Oncocytic Salivary Gland Tumors.
Shinmura K, Kato H, Kawanishi Y, Kamo T, Inoue Y, Yoshimura K, Sugiyama K, Misawa K, Hosokawa S, Mineta H, Sugimura H
Pathology oncology research : POR(2017 May)

Carboxyl-terminal Truncations of ClC-Kb Abolish Channel Activation by Barttin Via Modified Common Gating and Trafficking.
St?lting G, Bungert-Pl?mke S, Franzen A, Fahlke C
The Journal of biological chemistry290(51)30406-16(2015 Dec)

Tryptophan Scanning Mutagenesis Identifies the Molecular Determinants of Distinct Barttin Functions.
Wojciechowski D, Fischer M, Fahlke C
The Journal of biological chemistry290(30)18732-43(2015 Jul)

Human CLC-K Channels Require Palmitoylation of Their Accessory Subunit Barttin to Be Functional.
Steinke KV, Gorinski N, Wojciechowski D, Todorov V, Guseva D, Ponimaskin E, Fahlke C, Fischer M
The Journal of biological chemistry290(28)17390-400(2015 Jul)

GeneRIFs: Gene References Into Functions What's a GeneRIF?

results demonstrate that the carboxyl terminus of hClC-Kb is not part of the binding site for barttin, but functionally modifies the interplay with barttin.
Title: Carboxyl-terminal Truncations of ClC-Kb Abolish Channel Activation by Barttin Via Modified Common Gating and Trafficking.

These results demonstrate that mutations in a cluster of hydrophobic residues within transmembrane domain 1 affect barttin-CLC-K interaction and impair gating modification by the accessory subunit
Title: Tryptophan Scanning Mutagenesis Identifies the Molecular Determinants of Distinct Barttin Functions.

R8W and G47R, two naturally occurring barttin mutations identified in patients with Bartter syndrome type IV, reduce barttin palmitoylation and CLC-K/barttin channel activity.
Title: Human CLC-K Channels Require Palmitoylation of Their Accessory Subunit Barttin to Be Functional.

Case Report: G47R mutation decreases barttin expression, resulting CIC-K location being changed from the basement membrane to the cytoplasm in the tubule and might have varying effects on renal function associated with factors other than this gene.
Title: Renal dysfunction and barttin expression in Bartter syndrome Type IV associated with a G47R mutation in BSND in a family.

BSND, was first modeled, and then, the identified mutation was further analyzed by using different bioinformatics tools.
Title: Identification of missense mutation (I12T) in the BSND gene and bioinformatics analysis.

The following BSND gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the BSND 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)
OHu28293	NM_057176.3 Latest version!	Homo sapiens barttin CLCNK type accessory subunit beta (BSND), mRNA.	pcDNA3.1-C-(k)DYK or customized vector	in pcDNA3.1-C-(k)DYK	$154.50-$216.30 $309.00
View Old Accession Versions >>
OHu28293	NM_057176.2	Homo sapiens barttin CLCNK type accessory beta subunit (BSND), mRNA.	pcDNA3.1-C-(k)DYK or customized vector	in pcDNA3.1-C-(k)DYK	$154.50-$216.30 $309.00
Hide Old Accession Versions >>

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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)

BSND ( NM_057176.2 ) cDNA ORF clone, Homo sapiens(human) -> NP_476517.1 Homo sapiens barttin CLCNK type accessory beta subunit (BSND), mRNA.

Price & Availability↑

CloneID	OHu28293
Clone ID Related Accession (Same CDS sequence)	NM_057176.2 , NM_057176.3
Accession Version	NM_057176.2	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 963bp) 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	2017-09-30
Organism	Homo sapiens(human)
Product	barttin
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AY034632.1. This sequence is a reference standard in the RefSeqGene project. On Apr 30, 2002 this sequence version replaced NM_057176.1. 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 :: AY034632.1, AK129999.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968832, SAMEA1970526 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

ATGGCTGACG AGAAGACCTT CCGGATCGGC TTCATTGTGC TGGGGCTTTT CCTGCTGGCC 
CTCGGTACGT TCCTCATGAG CCATGATCGG CCCCAGGTCT ACGGCACCTT CTATGCCATG 
GGCAGCGTCA TGGTGATCGG GGGCATCATC TGGAGCATGT GCCAGTGCTA CCCCAAGATC 
ACCTTCGTCC CTGCTGACTC TGACTTTCAA GGCATCCTCT CCCCAAAGGC CATGGGCCTG 
CTGGAGAATG GGCTTGCTGC CGAGATGAAG AGCCCCAGTC CCCAGCCGCC CTATGTAAGG 
CTGTGGGAGG AAGCCGCCTA TGACCAGAGC CTGCCTGACT TCAGCCACAT CCAGATGAAA 
GTCATGAGCT ACAGTGAGGA CCACCGCTCC TTGCTGGCCC CTGAGATGGG GCAGCCGAAG 
CTGGGAACCA GTGATGGAGG AGAAGGTGGC CCTGGCGACG TTCAGGCCTG GATGGAGGCT 
GCCGTGGTCA TCCACAAGGG CTCAGACGAG AGTGAAGGGG AAAGACGCCT AACTCAGAGC 
TGGCCCGGCC CCCTGGCCTG TCCCCAGGGC CCTGCCCCCT TGGCTTCCTT CCAAGATGAC 
CTGGACATGG ACTCCAGTGA AGGCAGCAGC CCCAATGCAT CTCCACATGA CAGGGAGGAA 
GCTTGTTCCC CACAACAGGA ACCTCAGGGC TGCAGGTGCC CGCTGGACCG CTTCCAAGAC 
TTTGCCCTGA TTGATGCCCC AACGTTGGAG GATGAGCCCC AAGAGGGGCA GCAGTGGGAA 
ATAGCCCTGC CCAACAACTG GCAGCGGTAC CCAAGGACAA AGGTGGAGGA GAAGGAGGCT 
TCGGACACAG GTGGGGAGGA ACCTGAGAAG GAAGAGGAAG ACCTGTACTA TGGGCTGCCA 
GATGGAGCCG GGGACCTCCT CCCGGACAAG GAGCTGGGTT TTGAGCCTGA CACCCAAGGC 
TGA

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

RefSeq	NP_476517.1
CDS	244..1206
Translation	MADEKTFRIGFIVLGLFLLALGTFLMSHDRPQVYGTFYAMGSVMVIGGIIWSMCQCYPKITFVPADSDFQGILSPKAMGLLENGLAAEMKSPSPQPPYVRLWEEAAYDQSLPDFSHIQMKVMSYSEDHRSLLAPEMGQPKLGTSDGGEGGPGDVQAWMEAAVVIHKGSDESEGERRLTQSWPGPLACPQGPAPLASFQDDLDMDSSEGSSPNASPHDREEACSPQQEPQGCRCPLDRFQDFALIDAPTLEDEPQEGQQWEIALPNNWQRYPRTKVEEKEASDTGGEEPEKEEEDLYYGLPDGAGDLLPDKELGFEPDTQG

Target ORF information:

RefSeq Version	NM_057176.2
Organism	Homo sapiens(human)
Definition	Homo sapiens barttin CLCNK type accessory beta subunit (BSND), mRNA.

Target ORF information:

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

NM_057176.2

ORF Insert Sequence:

ATGGCTGACG AGAAGACCTT CCGGATCGGC TTCATTGTGC TGGGGCTTTT CCTGCTGGCC 
CTCGGTACGT TCCTCATGAG CCATGATCGG CCCCAGGTCT ACGGCACCTT CTATGCCATG 
GGCAGCGTCA TGGTGATCGG GGGCATCATC TGGAGCATGT GCCAGTGCTA CCCCAAGATC 
ACCTTCGTCC CTGCTGACTC TGACTTTCAA GGCATCCTCT CCCCAAAGGC CATGGGCCTG 
CTGGAGAATG GGCTTGCTGC CGAGATGAAG AGCCCCAGTC CCCAGCCGCC CTATGTAAGG 
CTGTGGGAGG AAGCCGCCTA TGACCAGAGC CTGCCTGACT TCAGCCACAT CCAGATGAAA 
GTCATGAGCT ACAGTGAGGA CCACCGCTCC TTGCTGGCCC CTGAGATGGG GCAGCCGAAG 
CTGGGAACCA GTGATGGAGG AGAAGGTGGC CCTGGCGACG TTCAGGCCTG GATGGAGGCT 
GCCGTGGTCA TCCACAAGGG CTCAGACGAG AGTGAAGGGG AAAGACGCCT AACTCAGAGC 
TGGCCCGGCC CCCTGGCCTG TCCCCAGGGC CCTGCCCCCT TGGCTTCCTT CCAAGATGAC 
CTGGACATGG ACTCCAGTGA AGGCAGCAGC CCCAATGCAT CTCCACATGA CAGGGAGGAA 
GCTTGTTCCC CACAACAGGA ACCTCAGGGC TGCAGGTGCC CGCTGGACCG CTTCCAAGAC 
TTTGCCCTGA TTGATGCCCC AACGTTGGAG GATGAGCCCC AAGAGGGGCA GCAGTGGGAA 
ATAGCCCTGC CCAACAACTG GCAGCGGTAC CCAAGGACAA AGGTGGAGGA GAAGGAGGCT 
TCGGACACAG GTGGGGAGGA ACCTGAGAAG GAAGAGGAAG ACCTGTACTA TGGGCTGCCA 
GATGGAGCCG GGGACCTCCT CCCGGACAAG GAGCTGGGTT TTGAGCCTGA CACCCAAGGC 
TGA

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

BSND ( NM_057176.3 ) cDNA ORF clone, Homo sapiens(human) -> NP_476517.1 Homo sapiens barttin CLCNK type accessory subunit beta (BSND), mRNA.

Price & Availability↑

CloneID	OHu28293
Clone ID Related Accession (Same CDS sequence)	NM_057176.2 , NM_057176.3
Accession Version	NM_057176.3 Latest version!	Documents for ORF clone product in default vector
Sequence Information	ORF Nucleotide Sequence (Length: 963bp) 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	2019-12-30
Organism	Homo sapiens(human)
Product	barttin
Comment	Comment: REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AK129999.1, AY034632.1, AL590440.1 and AL589790.22. This sequence is a reference standard in the RefSeqGene project. On Sep 20, 2018 this sequence version replaced NM_057176.2. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. 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 :: AK129999.1, SRR1803617.60777.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968832, SAMEA1970526 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000651561.1/ ENSP00000498282.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## COMPLETENESS: complete on the 3' end.

ATGGCTGACG AGAAGACCTT CCGGATCGGC TTCATTGTGC TGGGGCTTTT CCTGCTGGCC 
CTCGGTACGT TCCTCATGAG CCATGATCGG CCCCAGGTCT ACGGCACCTT CTATGCCATG 
GGCAGCGTCA TGGTGATCGG GGGCATCATC TGGAGCATGT GCCAGTGCTA CCCCAAGATC 
ACCTTCGTCC CTGCTGACTC TGACTTTCAA GGCATCCTCT CCCCAAAGGC CATGGGCCTG 
CTGGAGAATG GGCTTGCTGC CGAGATGAAG AGCCCCAGTC CCCAGCCGCC CTATGTAAGG 
CTGTGGGAGG AAGCCGCCTA TGACCAGAGC CTGCCTGACT TCAGCCACAT CCAGATGAAA 
GTCATGAGCT ACAGTGAGGA CCACCGCTCC TTGCTGGCCC CTGAGATGGG GCAGCCGAAG 
CTGGGAACCA GTGATGGAGG AGAAGGTGGC CCTGGCGACG TTCAGGCCTG GATGGAGGCT 
GCCGTGGTCA TCCACAAGGG CTCAGACGAG AGTGAAGGGG AAAGACGCCT AACTCAGAGC 
TGGCCCGGCC CCCTGGCCTG TCCCCAGGGC CCTGCCCCCT TGGCTTCCTT CCAAGATGAC 
CTGGACATGG ACTCCAGTGA AGGCAGCAGC CCCAATGCAT CTCCACATGA CAGGGAGGAA 
GCTTGTTCCC CACAACAGGA ACCTCAGGGC TGCAGGTGCC CGCTGGACCG CTTCCAAGAC 
TTTGCCCTGA TTGATGCCCC AACGTTGGAG GATGAGCCCC AAGAGGGGCA GCAGTGGGAA 
ATAGCCCTGC CCAACAACTG GCAGCGGTAC CCAAGGACAA AGGTGGAGGA GAAGGAGGCT 
TCGGACACAG GTGGGGAGGA ACCTGAGAAG GAAGAGGAAG ACCTGTACTA TGGGCTGCCA 
GATGGAGCCG GGGACCTCCT CCCGGACAAG GAGCTGGGTT TTGAGCCTGA CACCCAAGGC 
TGA

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

RefSeq	NP_476517.1
CDS	255..1217
Translation	MADEKTFRIGFIVLGLFLLALGTFLMSHDRPQVYGTFYAMGSVMVIGGIIWSMCQCYPKITFVPADSDFQGILSPKAMGLLENGLAAEMKSPSPQPPYVRLWEEAAYDQSLPDFSHIQMKVMSYSEDHRSLLAPEMGQPKLGTSDGGEGGPGDVQAWMEAAVVIHKGSDESEGERRLTQSWPGPLACPQGPAPLASFQDDLDMDSSEGSSPNASPHDREEACSPQQEPQGCRCPLDRFQDFALIDAPTLEDEPQEGQQWEIALPNNWQRYPRTKVEEKEASDTGGEEPEKEEEDLYYGLPDGAGDLLPDKELGFEPDTQG

Target ORF information:

RefSeq Version	NM_057176.3
Organism	Homo sapiens(human)
Definition	Homo sapiens barttin CLCNK type accessory subunit beta (BSND), mRNA.

Target ORF information:

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

NM_057176.3

ORF Insert Sequence:

ATGGCTGACG AGAAGACCTT CCGGATCGGC TTCATTGTGC TGGGGCTTTT CCTGCTGGCC 
CTCGGTACGT TCCTCATGAG CCATGATCGG CCCCAGGTCT ACGGCACCTT CTATGCCATG 
GGCAGCGTCA TGGTGATCGG GGGCATCATC TGGAGCATGT GCCAGTGCTA CCCCAAGATC 
ACCTTCGTCC CTGCTGACTC TGACTTTCAA GGCATCCTCT CCCCAAAGGC CATGGGCCTG 
CTGGAGAATG GGCTTGCTGC CGAGATGAAG AGCCCCAGTC CCCAGCCGCC CTATGTAAGG 
CTGTGGGAGG AAGCCGCCTA TGACCAGAGC CTGCCTGACT TCAGCCACAT CCAGATGAAA 
GTCATGAGCT ACAGTGAGGA CCACCGCTCC TTGCTGGCCC CTGAGATGGG GCAGCCGAAG 
CTGGGAACCA GTGATGGAGG AGAAGGTGGC CCTGGCGACG TTCAGGCCTG GATGGAGGCT 
GCCGTGGTCA TCCACAAGGG CTCAGACGAG AGTGAAGGGG AAAGACGCCT AACTCAGAGC 
TGGCCCGGCC CCCTGGCCTG TCCCCAGGGC CCTGCCCCCT TGGCTTCCTT CCAAGATGAC 
CTGGACATGG ACTCCAGTGA AGGCAGCAGC CCCAATGCAT CTCCACATGA CAGGGAGGAA 
GCTTGTTCCC CACAACAGGA ACCTCAGGGC TGCAGGTGCC CGCTGGACCG CTTCCAAGAC 
TTTGCCCTGA TTGATGCCCC AACGTTGGAG GATGAGCCCC AAGAGGGGCA GCAGTGGGAA 
ATAGCCCTGC CCAACAACTG GCAGCGGTAC CCAAGGACAA AGGTGGAGGA GAAGGAGGCT 
TCGGACACAG GTGGGGAGGA ACCTGAGAAG GAAGAGGAAG ACCTGTACTA TGGGCTGCCA 
GATGGAGCCG GGGACCTCCT CCCGGACAAG GAGCTGGGTT TTGAGCCTGA CACCCAAGGC 
TGA

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

PubMed

BSND is a Novel Immunohistochemical Marker for Oncocytic Salivary Gland Tumors.
Pathology oncology research : POR(2017 May)
Shinmura K,Kato H,Kawanishi Y,Kamo T,Inoue Y,Yoshimura K,Sugiyama K,Misawa K,Hosokawa S,Mineta H,Sugimura H

Carboxyl-terminal Truncations of ClC-Kb Abolish Channel Activation by Barttin Via Modified Common Gating and Trafficking.
The Journal of biological chemistry290(51)30406-16(2015 Dec)
St?lting G,Bungert-Pl?mke S,Franzen A,Fahlke C

Tryptophan Scanning Mutagenesis Identifies the Molecular Determinants of Distinct Barttin Functions.
The Journal of biological chemistry290(30)18732-43(2015 Jul)
Wojciechowski D,Fischer M,Fahlke C

Human CLC-K Channels Require Palmitoylation of Their Accessory Subunit Barttin to Be Functional.
The Journal of biological chemistry290(28)17390-400(2015 Jul)
Steinke KV,Gorinski N,Wojciechowski D,Todorov V,Guseva D,Ponimaskin E,Fahlke C,Fischer M

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BSND cDNA ORF clone, Homo sapiens(human)

Gene

Clones

gRNAs

Related articles in PubMed

Target ORF information:

Target ORF information:

ORF Insert Sequence:

Target ORF information:

Target ORF information:

ORF Insert Sequence:

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