KEGG   Homo sapiens (human): 7809Help
Entry
7809              CDS       T01001                                 

Gene name
BSND, BART, DFNB73
Definition
(RefSeq) barttin CLCNK type accessory beta subunit
  KO
K19331  barttin (chloride channel Ka/b beta subunit)
Organism
hsa  Homo sapiens (human)
Disease
H00239  Bartter syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    7809 (BSND)
Ion channels [BR:hsa04040]
 Chloride channels
  Chloride channel (CLC)
   7809 (BSND)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Barttin Imm17 Got1 DUF2157
Motif
Other DBs
NCBI-GeneID: 7809
NCBI-ProteinID: NP_476517
OMIM: 606412
HGNC: 16512
Ensembl: ENSG00000162399
Vega: OTTHUMG00000008112
Pharos: Q8WZ55(Tbio)
UniProt: Q8WZ55 Q5VU50
Position
1p32.3
AA seq 320 aa AA seqDB search
MADEKTFRIGFIVLGLFLLALGTFLMSHDRPQVYGTFYAMGSVMVIGGIIWSMCQCYPKI
TFVPADSDFQGILSPKAMGLLENGLAAEMKSPSPQPPYVRLWEEAAYDQSLPDFSHIQMK
VMSYSEDHRSLLAPEMGQPKLGTSDGGEGGPGDVQAWMEAAVVIHKGSDESEGERRLTQS
WPGPLACPQGPAPLASFQDDLDMDSSEGSSPNASPHDREEACSPQQEPQGCRCPLDRFQD
FALIDAPTLEDEPQEGQQWEIALPNNWQRYPRTKVEEKEASDTGGEEPEKEEEDLYYGLP
DGAGDLLPDKELGFEPDTQG
NT seq 963 nt NT seq  +upstreamnt  +downstreamnt
atggctgacgagaagaccttccggatcggcttcattgtgctggggcttttcctgctggcc
ctcggtacgttcctcatgagccatgatcggccccaggtctacggcaccttctatgccatg
ggcagcgtcatggtgatcgggggcatcatctggagcatgtgccagtgctaccccaagatc
accttcgtccctgctgactctgactttcaaggcatcctctccccaaaggccatgggcctg
ctggagaatgggcttgctgccgagatgaagagccccagtccccagccgccctatgtaagg
ctgtgggaggaagccgcctatgaccagagcctgcctgacttcagccacatccagatgaaa
gtcatgagctacagtgaggaccaccgctccttgctggcccctgagatggggcagccgaag
ctgggaaccagtgatggaggagaaggtggccctggcgacgttcaggcctggatggaggct
gccgtggtcatccacaagggctcagacgagagtgaaggggaaagacgcctaactcagagc
tggcccggccccctggcctgtccccagggccctgcccccttggcttccttccaagatgac
ctggacatggactccagtgaaggcagcagccccaatgcatctccacatgacagggaggaa
gcttgttccccacaacaggaacctcagggctgcaggtgcccgctggaccgcttccaagac
tttgccctgattgatgccccaacgttggaggatgagccccaagaggggcagcagtgggaa
atagccctgcccaacaactggcagcggtacccaaggacaaaggtggaggagaaggaggct
tcggacacaggtggggaggaacctgagaaggaagaggaagacctgtactatgggctgcca
gatggagccggggacctcctcccggacaaggagctgggttttgagcctgacacccaaggc
tga

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