Bsnd (barttin CLCNK type accessory beta subunit)

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Gene: Bsnd (barttin CLCNK type accessory beta subunit) Mus musculus

Analyze

Symbol:

Bsnd

Name:

barttin CLCNK type accessory beta subunit

RGD ID:

731636

MGI Page

MGI

Description:

Contributes to chloride channel activity. Predicted to be involved in cellular ion homeostasis and chloride transport. Localizes to basolateral plasma membrane; integral component of plasma membrane; and protein-containing complex. Is expressed in central nervous system; inner ear; and metanephros. Used to study Bartter disease type 4a. Human ortholog(s) of this gene implicated in Bartter disease; Bartter disease type 4a; and sensorineural hearing loss. Orthologous to human BSND (barttin CLCNK type accessory subunit beta); INTERACTS WITH 1,2-dimethylhydrazine; bisphenol A; vancomycin.

Type:

protein-coding

RefSeq Status:

VALIDATED

Also known as:

Bartter syndrome, infantile, with sensorineural deafness (Barttin); barttin; MGC47291

RGD Orthologs

Human

Rat

Chinchilla

Bonobo

Dog

Squirrel

Pig

Green Monkey

Naked Mole-Rat

Alliance Genes

More Info

more info ...

Latest Assembly:

GRCm38 - Mouse Genome Assembly GRCm38

Position:

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	4	106,340,653 - 106,349,440 (-)	NCBI	GRCm39		mm39
GRCm39 Ensembl	4	106,340,653 - 106,349,480 (-)	Ensembl
GRCm38	4	106,483,456 - 106,492,243 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	4	106,483,456 - 106,492,283 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	4	106,156,061 - 106,164,848 (-)	NCBI	GRCm37		mm9	NCBIm37
MGSCv36	4	105,981,388 - 105,990,172 (-)	NCBI			mm8
Celera	4	104,844,413 - 104,853,119 (-)	NCBI		Celera
Cytogenetic Map	4	C7	NCBI

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

autosomal recessive nonsyndromic deafness (ISO)

Bartter disease (ISO)

Bartter disease type 4A (IEA,ISO)

Sensorineural Deafness with Mild Renal Dysfunction (ISO)

sensorineural hearing loss (ISO)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dimethylhydrazine (EXP)

17beta-estradiol (ISO)

ammonium chloride (ISO)

benzo[a]pyrene (ISO)

bisphenol A (EXP)

bucladesine (ISO)

cefaloridine (ISO)

flusilazole (ISO)

furosemide (ISO)

gentamycin (ISO)

medroxyprogesterone acetate (ISO)

methylisothiazolinone (ISO)

paracetamol (ISO)

Triptolide (ISO)

vancomycin (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

cellular chloride ion homeostasis (NAS)

cellular ion homeostasis (ISO)

cellular potassium ion homeostasis (NAS)

chloride transport (IBA,ISO)

sensory perception of sound (NAS)

Cellular Component

basolateral plasma membrane (IBA,IDA)

integral component of membrane (ISO)

integral component of plasma membrane (IBA,IDA)

membrane (IEA)

plasma membrane (IEA)

protein-containing complex (IDA)

Molecular Function

chloride channel activity (IDA)

chloride channel regulator activity (IBA,ISO)

protein binding (IPI)

Phenotype Annotations Click to see Annotation Detail View

Mammalian Phenotype

abnormal kidney physiology (IAGP)

abnormal stria vascularis morphology (IAGP)

abnormal vestibuloocular dark reflex (IAGP)

absent distortion product otoacoustic emissions (IAGP)

alkalosis (IAGP)

cochlear outer hair cell degeneration (IAGP)

collapsed Reissner membrane (IAGP)

decreased body size (IAGP)

decreased circulating chloride level (IAGP)

decreased circulating creatinine level (IAGP)

decreased circulating sodium level (IAGP)

decreased endocochlear potential (IAGP)

decreased physiological sensitivity to xenobiotic (IAGP)

decreased systemic arterial blood pressure (IAGP)

decreased urine osmolality (IAGP)

decreased urine sodium level (IAGP)

dehydration (IAGP)

hydronephrosis (IAGP)

hypokalemia (IAGP)

increased circulating aldosterone level (IAGP)

increased circulating bicarbonate level (IAGP)

increased hematocrit (IAGP)

increased or absent threshold for auditory brainstem response (IAGP)

polyuria (IAGP)

postnatal lethality, complete penetrance (IAGP)

stria vascularis degeneration (IAGP)

thin stria vascularis (IAGP)

References

References - curated


1.	Birkenhager R, etal., Nat Genet. 2001 Nov;29(3):310-4.
2.	MGD data from the GO Consortium
3.	OMIM Disease Annotation Pipeline
4.	RGD automated import pipeline
5.	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6.	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:10349636	PMID:11042159	PMID:11076861	PMID:11217851	PMID:11734858	PMID:12466851	PMID:12477932	PMID:15489334	PMID:16141072	PMID:16141073	PMID:16602821	PMID:18353863
PMID:18485340	PMID:18614997	PMID:18833191	PMID:19521566	PMID:20346939	PMID:20944551	PMID:21267068	PMID:21593186	PMID:21677750	PMID:21873635	PMID:21925491	PMID:23684652
PMID:24727668	PMID:24952082	PMID:28994389	PMID:29107558	PMID:29326302	PMID:31362893	PMID:31879347

Genomics

Comparative Map Data

Bsnd
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	4	106,340,653 - 106,349,440 (-)	NCBI	GRCm39		mm39
GRCm39 Ensembl	4	106,340,653 - 106,349,480 (-)	Ensembl
GRCm38	4	106,483,456 - 106,492,243 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	4	106,483,456 - 106,492,283 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	4	106,156,061 - 106,164,848 (-)	NCBI	GRCm37		mm9	NCBIm37
MGSCv36	4	105,981,388 - 105,990,172 (-)	NCBI			mm8
Celera	4	104,844,413 - 104,853,119 (-)	NCBI		Celera
Cytogenetic Map	4	C7	NCBI

BSND
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38.p13 Ensembl	1	54,998,933 - 55,017,172 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh38	1	54,998,933 - 55,017,172 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	1	55,464,606 - 55,482,845 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	55,237,205 - 55,247,053 (+)	NCBI	NCBI36		hg18	NCBI36
Build 34	1	55,176,637 - 55,186,485	NCBI
Celera	1	53,752,220 - 53,762,073 (+)	NCBI
Cytogenetic Map	1	p32.3	NCBI
HuRef	1	53,578,679 - 53,587,911 (+)	NCBI		HuRef
CHM1_1	1	55,580,238 - 55,590,632 (+)	NCBI		CHM1_1

Bsnd
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
mRatBN7.2	5	121,251,774 - 121,260,571 (-)	NCBI
Rnor_6.0 Ensembl	5	126,071,846 - 126,080,698 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_6.0	5	126,071,849 - 126,080,647 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_5.0	5	129,918,748 - 129,927,546 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	5	127,542,219 - 127,551,017 (-)	NCBI	RGSC3.4		rn4	RGSC3.4
RGSC_v3.1	5	127,547,444 - 127,556,243 (-)	NCBI
Celera	5	120,001,260 - 120,010,060 (-)	NCBI		Celera
Cytogenetic Map	5	q34	NCBI

Bsnd
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955464	4,459,628 - 4,468,927 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955464	4,459,686 - 4,468,749 (-)	NCBI	ChiLan1.0	ChiLan1.0

BSND
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
PanPan1.1	1	55,869,495 - 55,879,674 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	1	55,869,495 - 55,879,674 (+)	Ensembl	panpan1.1		panPan2
Mhudiblu_PPA_v0	1	54,281,736 - 54,292,159 (+)	NCBI	Mhudiblu_PPA_v0		panPan3

BSND
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	5	54,225,393 - 54,239,305 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	5	54,225,389 - 54,237,110 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	5	54,294,651 - 54,310,910 (-)	NCBI
ROS_Cfam_1.0	5	54,413,340 - 54,426,512 (-)	NCBI
UMICH_Zoey_3.1	5	54,410,446 - 54,426,677 (-)	NCBI
UNSW_CanFamBas_1.0	5	54,300,457 - 54,315,533 (-)	NCBI
UU_Cfam_GSD_1.0	5	54,688,907 - 54,702,075 (-)	NCBI

Bsnd
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024405058	69,077,490 - 69,086,314 (+)	NCBI
SpeTri2.0	NW_004936522	6,329,981 - 6,338,825 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

BSND
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	6	157,425,878 - 157,432,577 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	6	157,424,389 - 157,432,571 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	6	145,489,124 - 145,496,137 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

BSND
(Chlorocebus sabaeus - African green monkey)

Vervet Assembly	Chr	Position (strand)	Source	Genome Browsers
Vervet Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	20	77,943,853 - 77,960,883 (-)	NCBI
ChlSab1.1 Ensembl	20	77,940,881 - 77,955,094 (-)	Ensembl

Bsnd
(Heterocephalus glaber - naked mole-rat)

Molerat Assembly	Chr	Position (strand)	Source	Genome Browsers
Molerat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla 1.0	NW_004624862	4,917,196 - 4,927,139 (-)	NCBI

Position Markers

Bsnd

Mouse Assembly	Chr	Position (strand)	Source	JBrowse
Cytogenetic Map	4	C7	UniSTS
cM Map	4	49.67	UniSTS

QTLs in Region (GRCm38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
11567249	Elorr3_m	ethanol induced loss of righting response 3 (mouse)					4	3722677	156183778	Mouse
4142047	Mvwf3_m	modifier of von Willebrand factor 3 (mouse)			Not determined			14010457	117215009	Mouse
26884449	Sklq2_m	skull length QTL 2, 5 week (mouse)					4	36700000	129100000	Mouse
27226724	Tibw2_m	tibia width 2, proximal, 10 week (mouse)					4	43000000	108500000	Mouse
1357895	Ctrcts_m	cataract severity (mouse)			Not determined		4	45709925	138615442	Mouse
11532714	Sluc43_m	susceptibility to lung cancer 43 (mouse)					4	46642108	123233418	Mouse
4141900	Skts-fp1_m	skin tumor susceptibility in FVB and PWK 1 (mouse)			Not determined		4	53550839	124161387	Mouse
27095905	Scvln3_m	sacral vertebrae length 2, 5 week (mouse)					4	55600000	129100000	Mouse
26884437	Sklq13_m	skull length QTL 13, 16 week (mouse)					4	57700000	155600000	Mouse
27095939	Ulnl9_m	ulna length 9, 16 week (mouse)					4	65400000	119000000	Mouse
25314312	Syncl2_m	synaptonemal complex length 2 (mouse)					4	65800000	146500000	Mouse
27095900	Scvln9_m	sacral vertebrae length 2, 10 week (mouse)					4	68100000	107300000	Mouse
27095917	Scvln14_m	sacral vertebrae length 2, 16 week (mouse)					4	68100000	130500000	Mouse
26884445	Sklq7_m	skull length QTL 7, 10 week (mouse)					4	68100000	150800000	Mouse
27095924	Pglq2_m	pelvic girdle length QTL 2, 5 week (mouse)					4	69200000	131000000	Mouse
1302031	Bulb1_m	bulb size 1 (mouse)			Not determined		4	74145650	108145792	Mouse
1301597	Anxty_m	anxiety (mouse)			Not determined		4	74219337	128115487	Mouse
10412193	Plep_m	plasma lepin levels (mouse)			Not determined		4	74556462	108556746	Mouse
11532700	Sluc43d_m	susceptibility to lung cancer 43d (mouse)					4	74556462	108556746	Mouse
11532701	Sluc43e_m	susceptibility to lung cancer 43e (mouse)					4	74556462	108556746	Mouse
11532702	Sluc43f_m	susceptibility to lung cancer 43f (mouse)					4	74556462	108556746	Mouse
11532703	Sluc43g_m	susceptibility to lung cancer 43g (mouse)					4	74556462	108556746	Mouse
11532704	Sluc43a_m	susceptibility to lung cancer 43a (mouse)					4	74556462	108556746	Mouse
11532705	Sluc43b_m	susceptibility to lung cancer 43b (mouse)					4	74556462	108556746	Mouse
11532706	Sluc43c_m	susceptibility to lung cancer 43c (mouse)					4	74556462	108556746	Mouse
11532707	Sluc43h_m	susceptibility to lung cancer 43h (mouse)					4	74556462	108556746	Mouse
11532708	Sluc43i_m	susceptibility to lung cancer 43i (mouse)					4	74556462	108556746	Mouse
26884431	Zlq8_m	zygomatic length QTL 8, 16 week (mouse)					4	74800000	108500000	Mouse
1301545	Gauc_m	glucose area under curve (mouse)			Not determined		4	76874870	110875068	Mouse
1300697	Sle2_m	systemic lupus erythmatosus susceptibility 2 (mouse)			Not determined		4	78069342	112069538	Mouse
11039504	Ltpr4a_m	Leishmania tropica response 4a (mouse)					4	79477514	113477630	Mouse
11039505	Ltpr4c_m	Leishmania tropica response 4c (mouse)					4	79477514	113477630	Mouse
11039506	Ltpr4b_m	Leishmania tropica response 4b (mouse)					4	79477514	113477630	Mouse
11039517	Ltpr4_m	Leishmania tropica response 4 (mouse)					4	79477514	113477630	Mouse
12904933	Edlmmq3_m	extensor digitorum longus muscle mass QTL 3 (mouse)					4	81325754	115325754	Mouse
1302204	Spm1_m	splenomegaly modifier (mouse)			Not determined		4	82356158	116356345	Mouse
27095921	Pglq12_m	pelvic girdle length QTL 12, 16 week (mouse)					4	83200000	108500000	Mouse
1301867	Idd11_m	insulin dependent diabetes susceptibility 11 (mouse)			Not determined		4	83747673	117747809	Mouse
27226787	Feml14_m	femur length 14, 10 week (mouse)					4	85000000	107300000	Mouse
1301556	Cd4vts1_m	CD4 virgin T cell subset 1 (mouse)			Not determined		4	85571641	119571840	Mouse
1357726	Lnopy1_m	lens opacity 1 (mouse)			Not determined		4	85571641	119571840	Mouse
1301930	Papg1_m	pulmonary adenoma progression 1 (mouse)			Not determined		4	85923970	119924082	Mouse
1301118	Bbaa23_m	B.burgdorferi-associated arthritis 23 (mouse)			Not determined		4	85923970	119924082	Mouse
27226746	Metcl8_m	metatarsal-calcaneal length 8, 10 week (mouse)					4	87600000	107300000	Mouse
27226739	Metcl14_m	metatarsal-calcaneal length 14, 16 week (mouse)					4	87600000	108500000	Mouse
27095927	Pglq7_m	pelvic girdle length QTL 7, 10 week (mouse)					4	88200000	108500000	Mouse
27226716	Metcl2_m	metatarsal-calcaneal length 2, 5 week (mouse)					4	88200000	118700000	Mouse
27226770	Tibl11_m	tibia length 11, 10 week (mouse)					4	88600000	108500000	Mouse
27226766	Tibl17_m	tibia length 17, 16 week (mouse)					4	88600000	108600000	Mouse
11532738	Abd1_m	autoimmune biliary disease 1 (mouse)					4	89063832	116413923	Mouse
4141549	W10q10_m	weight 10 weeks QTL 10 (mouse)			Not determined			89063832	140740892	Mouse
4141093	W3q17_m	weight 3 weeks QTL 17 (mouse)			Not determined			89063832	140740892	Mouse
4141623	W6q13_m	weight 6 weeks QTL 13 (mouse)			Not determined			89063832	140740892	Mouse
1357529	Lvrq8_m	liver weight QTL 8 (mouse)			Not determined		4	89063832	140740892	Mouse
39128212	Lwq21_m	liver weight QTL 21 (mouse)					4	89063832	140740892	Mouse
1301823	Bmd7_m	bone mineral density 7 (mouse)			Not determined		4	89063832	151570093	Mouse
13824982	Svwq1_m	seminal vesicle weight QTL 1 (mouse)					4	90000000	119000000	Mouse
1300918	Stheal4_m	soft tissue heal 4 (mouse)			Not determined		4	90112430	124112550	Mouse
11553870	Cmmm_m	carcinoma modifier of MSM (mouse)					4	90733471	124733584	Mouse
27226760	Feml19_m	femur length 19, 16 week (mouse)					4	91000000	108600000	Mouse
27226782	Tibl2_m	tibia length 2, 5 week (mouse)					4	91000000	111400000	Mouse
13208562	Wght7_m	weight 7 (mouse)					4	91000000	148000000	Mouse
15039368	Nmrs19_m	NAFLD-associated magnetic resonance shift 19 (mouse)					4	91025583	125025583	Mouse
12904002	Opfaq9_m	open field activity QTL 9 (mouse)					4	93118593	127118593	Mouse
1301731	Cafq2_m	caffeine metabolism QTL 2 (mouse)			Not determined		4	94875058	128875257	Mouse
1301233	Sbw2_m	splenomegaly-NZB x NZW 2 (mouse)			Not determined		4	95069342	128115487	Mouse
1301815	Sles2_m	systemic lupus erythmatosus suppressor 2 (mouse)			Not determined		4	95069342	150592401	Mouse
14696687	Gdq1_m	grooming duration QTL 1, males (mouse)					4	97000000	112000000	Mouse
1300580	Lbw2_m	lupus NZB x NZW 2 (mouse)			Not determined		4	98657302	128115487	Mouse
1301106	Skts7_m	skin tumor susceptibility 7 (mouse)			Not determined		4	100214774	134215009	Mouse
1301847	Fecq2_m	fecundity QTL 2 (mouse)			Not determined		4	100214774	134215009	Mouse
14696689	Gdq2_m	grooming duration QTL 2, females (mouse)					4	101000000	125000000	Mouse
12880433	Fgf23lq1_m	FGF23 serum level QTL 1 (mouse)					4	101300000	135300000	Mouse
1300689	Dob1_m	Dietary obesity 1 (mouse)			Body weight		4	101717404	123233418	Mouse
15039377	Bw45_m	body weight QTL 45 (mouse)					4	105812001	139812001	Mouse
15039378	Adip30_m	adiposity 30 (mouse)					4	105812001	139812001	Mouse
15039382	Ltgq7_m	liver triglyceride QTL 7 (mouse)					4	105812001	139812001	Mouse
12910794	Pwbwq8_m	post-weaning body weight QTL 8 (mouse)					4	105978113	141706527	Mouse
12910797	Pwgrq4_m	pre-weaning growth rate QTL 4 (mouse)					4	105978113	141706527	Mouse
12910808	Pwbwq9_m	post-weaning body weight QTL 9 (mouse)					4	105978113	141706527	Mouse
12910813	Pwbwq4_m	pre-weaning body weight QTL 4 (mouse)					4	105978113	141706527	Mouse

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	768
Count of miRNA genes:	473
Interacting mature miRNAs:	552
Transcripts:	ENSMUST00000054472
Prediction methods:	Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Expression

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_080458	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AF391088	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK052587	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL954352	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY373833	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC038287	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH466527	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Reference Sequences

RefSeq Acc Id:

ENSMUST00000054472 ⟹ ENSMUSP00000049563

RefSeq Status:

Type:

CODING

Position:

Mouse Assembly	Chr	Position (strand)	Source
GRCm38.p6 Ensembl	4	106,483,456 - 106,492,283 (-)	Ensembl

RefSeq Acc Id:

NM_080458 ⟹ NP_536706

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Mouse Assembly	Chr	Position (strand)	Source
GRCm39	4	106,340,653 - 106,349,440 (-)	NCBI
GRCm38	4	106,483,456 - 106,492,243 (-)	ENTREZGENE
MGSCv37	4	106,156,061 - 106,164,848 (-)	RGD
Celera	4	104,844,413 - 104,853,119 (-)	RGD
cM Map	4		ENTREZGENE

Sequence:

show sequence

GAAGCGTGTCACCTGCCCTGCTGGGCTCAGGGCTGAGAGCTGGGCCTGTGGAGTTTGCTCCTTG
CTCTGTGCATCATCACCTTGGTTCTCAGCCATCTCCTGGAGCATCCTTCCTTGAGAGCCTGCTC
AGCGTTTGAGGAGGATTGCGGGCAGTCCCCTGCTGGTGTGCTGATCAGCTAGCTACCAGGGCTG
GTTAGCCACCATGGCTGATGAGAAGACCTTCCGAATCGGCTTCATCGTGCTGGGCCTCTTCCTG
CTATCCCTGGGTACATTCCTTATGAGCCACGATCGACCCCAGGTCTACGGCACCTTCTATGCCA
TGGGCAGCGTCATGGTGATCGGGGGTGTCATCTGGAGCATGTGCCAATGCTATCCTAAGATCAC
CTTTGTGCCAGCAGACTCTGACTTCCAAGGCATCTTGTCCCCAAAGGCCCTGAGCCTGCTGGAG
ACCGGGCTTTCGGAGGTAAAGAGCCCCCAGCCCCCCTACGTCAGGCTGTGGGAAGAAGCCGCCT
ATGACCAGAGCCTCCCAGACTTCACTCACATCCAAATGAAGGTCATGGGCTACAGTGAGGACCC
CAGGCCACTGCTGGCCCCCGAGCTGAAGACAGGAGCCAGCAGTGTCAGGGAAGGCGAGCCTCGT
ACTGCTCAGGCCTGGATGGAGGCTCCGGTGGTCGTCCATAGAGGGTCAGATGAGAACGAGGGAG
AGAAATCCCATTCTCAGAGCAGCCCTTCAGTGGGTCCCCAAGGCTCTGCACCCTTGGCCTCATT
CCATGACGACCTGGACGTGGGCTCCAGCGAAGGCAGCAGCCTGCAACCATCCCCCAACAGGGAT
GAGCCACACCGGCAGGTGCCCTGGGCCAGCAGGGGTCCACTGGATCGCTTCAGTGACTTTGCTC
TGATTGACGACACCCCTACATCTGAGGACACGGTCCTGGACGGGCAGGCACGGGAGGCAGCGCT
ACCCAGAAAGCAGCAATGGTCCCTGAGGATGAAGGGGGAGACTGTCCAGGCACGCGCAGAAGAA
CCGGAGCAGGAGGAGGAAGATCTGTACTACGGGCTGCCAGACAGCCCTGGGAACCCCCTACCCG
ACAAAGAGTTGGGCTTCGAGCCTGACATCCAGGGCTGAGATGAAACTGCCTCCTGTGTCTAGCC
TGACAGCACTGCTGTCTTCATGTGACCCCTCAAGGGCTCAGTTTTCCAAGTCCCAAACAGGATT
GTATGGAGGACCAAGTGAGGCAGTGAACTGAAGCATCTTGGGAACTGAAAGGAACACACATGGG
GGGCAGCAATCCTCCCCCCTGCGAGCCACATGCGTCTGGTTGTAGCTTGTTCTGCTGACCTGCA
GGGACAGTGGGGTTTTCTGAGGTCCTGTGTGACAGCCAGACCCCCAGAAGCCCTTCTCCATCTC
CTAATGCTAGCTTCTGATTGGGCCTCCTGTGGTGCTACCCAGGGCCTCTGAGAACCCCATGTCC
ACTGTGTTTTGGTCCTCTGATGGGTGTTGGACTCACGCACCCCTCTCAGAGCCGATGCTGTCTC
CTGGCTCAGTGTCTTTAGCAGTTTCTCTGCTCTGGGATCTATGACTCTCTGTGGCTGACTTCTG
CTGAGCTGAGCTGACCTCTGGATATTACTCTAGTCCCTCCTGTTCATGCCCCTAGCCCATGCCT
ATACCCTTGCTTGAGCTGTGTTCTTCCAGGGCCCCTTGTGCTGAGTGAACTCCCACCCATTCCT
ATACACCCACCAAAGTGACCTTTCTCCTGCTAGTTTTCCTGGCATCCCAACCCCTAGATGAGAA
TTTCCCTCTGGGGCTTGTGTGTCCATTTCTCTGGCTGGTGCTTGCCACTGCCCAGGGACAGCAT
CTTGACTTCATTCACCAGAGTTCCCAGGAGACCTTTGGCGTATGCAGATCTCAGCAGATCTTGG
AACCTTTGCAGATAGGGTCACCCTCCCCAGTTTTGACAAGTATGGACTCTTAGTCTCTGGCACC
CACTTTTCAAAATGGCTTCTAGACAGTCATAAAAACCAGGCGAAAAGCTACCAGAAGAGAACCC
AACAACAACTCACAAAGCACACTTGCATTGGTTTGGAATGGACAAAATCCAGCTGCTGAAGTAA
TTCCACTTGGTGCCCTTGGCACTTACTGAGCATCTGCTATGTGCCAGGCTCAGCTTGGAAAACA
GTCATTGGTCCCTGACCCTGTAAAGGGCTCATGGTCTGAGCTGGCTGTCTTGTAAGCTGGGAAC
ACAGCATGGAAGGTGGATGGGAGCAGAGTCACTCTCCTGTCTGCAGGTCTTGCAGAACCCTCTG
TTCTCAGCCCAGCATGGAAGGAGCCATAAGGAGAAAGGTGTTGCTGCTTTCTCCAGCCAGGTCT
ACACAACTTAGACCTGTTCTGAGATGTCTAAGAGCAGGGCACTGGGAGAAGGTTAGGGGTCTCA
GCCGAGGGAAGGAGATGCCCACCGGTGCTCACTGAGAACACACCACAACCCTCCCCATGTCTGG
GGCATTTCTACCTCTTCAGTGAAGACGCCTCCACCAGGCACCTCCTCTCTGCTGATAGGTCACA
GACCAGGTGTCCCTGCTCCTGTCTCAGCCAAGGGTGAGGTGACATGTAGCTGCTGTCTGTGTAC
TGCTGGCCCAGGCAAGGACTGACTGTGACCCACATCAGACAGAGCAAAGTCAGCACCAGGGGAT
GAAATAAAAAAGTTTTTTAACTTCAAAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_536706	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH38287	(Get FASTA)	NCBI Sequence Viewer
	AAL33907	(Get FASTA)	NCBI Sequence Viewer
	AAQ81629	(Get FASTA)	NCBI Sequence Viewer
	BAC35049	(Get FASTA)	NCBI Sequence Viewer
	EDL30816	(Get FASTA)	NCBI Sequence Viewer
	EDL30817	(Get FASTA)	NCBI Sequence Viewer
	Q8VIM4	(Get FASTA)	NCBI Sequence Viewer

Reference Sequences

RefSeq Acc Id:

NP_536706 ⟸ NM_080458

- UniProtKB:

Q8VIM4 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MADEKTFRIGFIVLGLFLLSLGTFLMSHDRPQVYGTFYAMGSVMVIGGVIWSMCQCYPKITFVP
ADSDFQGILSPKALSLLETGLSEVKSPQPPYVRLWEEAAYDQSLPDFTHIQMKVMGYSEDPRPL
LAPELKTGASSVREGEPRTAQAWMEAPVVVHRGSDENEGEKSHSQSSPSVGPQGSAPLASFHDD
LDVGSSEGSSLQPSPNRDEPHRQVPWASRGPLDRFSDFALIDDTPTSEDTVLDGQAREAALPRK
QQWSLRMKGETVQARAEEPEQEEEDLYYGLPDSPGNPLPDKELGFEPDIQG

hide sequence

RefSeq Acc Id:

ENSMUSP00000049563 ⟸ ENSMUST00000054472

Promoters

RGD ID:

6834961

Promoter ID:

MM_KWN:38775

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

Kidney, Spleen

Transcripts:

OTTMUST00000018616

Position:

Mouse Assembly	Chr	Position (strand)	Source
MGSCv36	4	106,164,539 - 106,165,039 (-)	MPROMDB

RGD ID:

6884042

Promoter ID:

EPDNEW_M5472

Type:

initiation region

Name:

Bsnd_1

Description:

Mus musculus barttin CLCNK type accessory beta subunit , mRNA.

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Experiment Methods:

Single-end sequencing.

Position:

Mouse Assembly	Chr	Position (strand)	Source
GRCm38	4	106,492,243 - 106,492,303	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	MGI:2153465	AgrOrtholog
Ensembl Genes	ENSMUSG00000025418	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein	ENSMUSP00000049563	ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENSMUST00000054472	ENTREZGENE, UniProtKB/Swiss-Prot
InterPro	Barttin	UniProtKB/Swiss-Prot
KEGG Report	mmu:140475	UniProtKB/Swiss-Prot
MGD	MGI:2153465	ENTREZGENE
NCBI Gene	140475	ENTREZGENE
PANTHER	PTHR28399	UniProtKB/Swiss-Prot
Pfam	Barttin	UniProtKB/Swiss-Prot
PhenoGen	Bsnd	PhenoGen
UniProt	BSND_MOUSE	UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary	B1AZI5	UniProtKB/Swiss-Prot
	Q8C740	UniProtKB/Swiss-Prot
	Q8CHY0	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2017-03-21	Bsnd	barttin CLCNK type accessory beta subunit		Bartter syndrome, infantile, with sensorineural deafness (Barttin)	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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