KEGG   Homo sapiens (human): 5172
Entry
5172              CDS       T01001                                 

Gene name
SLC26A4, DFNB4, EVA, PDS, TDH2B
Definition
(RefSeq) solute carrier family 26 member 4
  KO
K14702  solute carrier family 26 (sodium-independent chloride/iodide transporter), member 4
Organism
hsa  Homo sapiens (human)
Pathway
hsa04918  Thyroid hormone synthesis
Network
nt06322  TRH-TSH-TH signaling
  Element
N00786  Transport of iodide
N00787  Mutation-inactivated NIS to transport of iodide
N00788  Mutation-inactivated PDS to transport of iodide
Disease
H00251  Thyroid dyshormonogenesis
H00605  Deafness, autosomal recessive
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09152 Endocrine system
   04918 Thyroid hormone synthesis
    5172 (SLC26A4)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   02000 Transporters [BR:hsa02000]
    5172 (SLC26A4)
   04147 Exosome [BR:hsa04147]
    5172 (SLC26A4)
Transporters [BR:hsa02000]
 Solute carrier family (SLC)
  SLC26: Multifunctional anion exchanger
   5172 (SLC26A4)
Exosome [BR:hsa04147]
 Exosomal proteins
  Exosomal proteins of other body fluids (saliva and urine)
   5172 (SLC26A4)
SSDB
Motif
Pfam: Sulfate_transp STAS
Other DBs
NCBI-GeneID: 5172
NCBI-ProteinID: NP_000432
OMIM: 605646
HGNC: 8818
Ensembl: ENSG00000091137
Vega: OTTHUMG00000154807
Pharos: O43511(Tbio)
UniProt: O43511
LinkDB
Position
7q22.3
AA seq 780 aa
MAAPGGRSEPPQLPEYSCSYMVSRPVYSELAFQQQHERRLQERKTLRESLAKCCSCSRKR
AFGVLKTLVPILEWLPKYRVKEWLLSDVISGVSTGLVATLQGMAYALLAAVPVGYGLYSA
FFPILTYFIFGTSRHISVGPFPVVSLMVGSVVLSMAPDEHFLVSSSNGTVLNTTMIDTAA
RDTARVLIASALTLLVGIIQLIFGGLQIGFIVRYLADPLVGGFTTAAAFQVLVSQLKIVL
NVSTKNYNGVLSIIYTLVEIFQNIGDTNLADFTAGLLTIVVCMAVKELNDRFRHKIPVPI
PIEVIVTIIATAISYGANLEKNYNAGIVKSIPRGFLPPELPPVSLFSEMLAASFSIAVVA
YAIAVSVGKVYATKYDYTIDGNQEFIAFGISNIFSGFFSCFVATTALSRTAVQESTGGKT
QVAGIISAAIVMIAILALGKLLEPLQKSVLAAVVIANLKGMFMQLCDIPRLWRQNKIDAV
IWVFTCIVSIILGLDLGLLAGLIFGLLTVVLRVQFPSWNGLGSIPSTDIYKSTKNYKNIE
EPQGVKILRFSSPIFYGNVDGFKKCIKSTVGFDAIRVYNKRLKALRKIQKLIKSGQLRAT
KNGIISDAVSTNNAFEPDEDIEDLEELDIPTKEIEIQVDWNSELPVKVNVPKVPIHSLVL
DCGAISFLDVVGVRSLRVIVKEFQRIDVNVYFASLQDYVIEKLEQCGFFDDNIRKDTFFL
TVHDAILYLQNQVKSQEGQGSILETITLIQDCKDTLELIETELTEEELDVQDEAMRTLAS
NT seq 2343 nt   +upstreamnt  +downstreamnt
atggcagcgccaggcggcaggtcggagccgccgcagctccccgagtacagctgcagctac
atggtgtcgcggccggtctacagcgagctcgctttccagcaacagcacgagcggcgcctg
caggagcgcaagacgctgcgggagagcctggccaagtgctgcagttgttcaagaaagaga
gcctttggtgtgctaaagactcttgtgcccatcttggagtggctccccaaataccgagtc
aaggaatggctgcttagtgacgtcatttcgggagttagtactgggctagtggccacgctg
caagggatggcatatgccctactagctgcagttcctgtcggatatggtctctactctgct
tttttccctatcctgacatactttatctttggaacatcaagacatatctcagttggacct
tttccagtggtgagtttaatggtgggatctgttgttctgagcatggcccccgacgaacac
tttctcgtatccagcagcaatggaactgtattaaatactactatgatagacactgcagct
agagatacagctagagtcctgattgccagtgccctgactctgctggttggaattatacag
ttgatatttggtggcttgcagattggattcatagtgaggtacttggcagatcctttggtt
ggtggcttcacaacagctgctgccttccaagtgctggtctcacagctaaagattgtcctc
aatgtttcaaccaaaaactacaatggagttctctctattatctatacgctggttgagatt
tttcaaaatattggtgataccaatcttgctgatttcactgctggattgctcaccattgtc
gtctgtatggcagttaaggaattaaatgatcggtttagacacaaaatcccagtccctatt
cctatagaagtaattgtgacgataattgctactgccatttcatatggagccaacctggaa
aaaaattacaatgctggcattgttaaatccatcccaagggggtttttgcctcctgaactt
ccacctgtgagcttgttctcggagatgctggctgcatcattttccatcgctgtggtggct
tatgctattgcagtgtcagtaggaaaagtatatgccaccaagtatgattacaccatcgat
gggaaccaggaattcattgcctttgggatcagcaacatcttctcaggattcttctcttgt
tttgtggccaccactgctctttcccgcacggccgtccaggagagcactggaggaaagaca
caggttgctggcatcatctctgctgcgattgtgatgatcgccattcttgccctggggaag
cttctggaacccttgcagaagtcggtcttggcagctgttgtaattgccaacctgaaaggg
atgtttatgcagctgtgtgacattcctcgtctgtggagacagaataagattgatgctgtt
atctgggtgtttacgtgtatagtgtccatcattctggggctggatctcggtttactagct
ggccttatatttggactgttgactgtggtcctgagagttcagtttccttcttggaatggc
cttggaagcatccctagcacagatatctacaaaagtaccaagaattacaaaaacattgaa
gaacctcaaggagtgaagattcttagattttccagtcctattttctatggcaatgtcgat
ggttttaaaaaatgtatcaagtccacagttggatttgatgccattagagtatataataag
aggctgaaagcgctgaggaaaatacagaaactaataaaaagtggacaattaagagcaaca
aagaatggcatcataagtgatgctgtttcaacaaataatgcttttgagcctgatgaggat
attgaagatctggaggaacttgatatcccaaccaaggaaatagagattcaagtggattgg
aactctgagcttccagtcaaagtgaacgttcccaaagtgccaatccatagccttgtgctt
gactgtggagctatatctttcctggacgttgttggagtgagatcactgcgggtgattgtc
aaagaattccaaagaattgatgtgaatgtgtattttgcatcacttcaagattatgtgata
gaaaagctggagcaatgcgggttctttgacgacaacattagaaaggacacattctttttg
acggtccatgatgctatactctatctacagaaccaagtgaaatctcaagagggtcaaggt
tccattttagaaacgatcactctcattcaggattgtaaagatacccttgaattaatagaa
acagagctgacggaagaagaacttgatgtccaggatgaggctatgcgtacacttgcatcc
tga

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