SLC26A4 E384G [plasma membrane]

Stable Identifier
R-HSA-5627860
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
plasma membrane
Synonyms
Pendrin, S26A4_HUMAN
Locations in the PathwayBrowser
Expand all
External Reference Information
External Reference
UniProt:O43511 SLC26A4
Gene Names
SLC26A4, PDS
Chain
chain:1-780
Reference Genes
BioGPS Gene:5172 SLC26A4
COSMIC (genes):SLC26A4 SLC26A4
CTD Gene:5172 SLC26A4
dbSNP Gene:5172 SLC26A4
ENSEMBL:ENSG00000091137 SLC26A4
HGNC:8818 SLC26A4
KEGG:hsa:5172 SLC26A4
Monarch:5172 SLC26A4
NCBI Gene:5172 SLC26A4
OMIM:605646 SLC26A4
UCSC:O43511 SLC26A4
Reference Transcript
Other Identifiers
11737329_at
11751234_a_at
17050251
206529_PM_x_at
206529_x_at
3018607
3018608
3018612
3018615
3018616
3018617
3018618
3018619
3018620
3018621
3018622
3018623
3018624
3018625
3018626
3018627
3018628
3018629
3018630
3018631
3018632
3018633
3018634
3018636
3018638
3018640
3018641
3018642
36376_at
5172
8135436
A_14_P103076
A_14_P124932
A_23_P331560
GE54241
GO:0005215
GO:0005515
GO:0005886
GO:0006811
GO:0006885
GO:0007605
GO:0008271
GO:0008272
GO:0015106
GO:0015108
GO:0015111
GO:0015116
GO:0015698
GO:0015701
GO:0015705
GO:0016020
GO:0016324
GO:0019531
GO:0019532
GO:0031526
GO:0032880
GO:0043226
GO:0050877
GO:0055085
GO:0070062
GO:0140900
GO:1902358
GO:1902476
HMNXSV003002338
HMNXSV003022888
HMNXSV003029049
ILMN_1652465
PH_hs_0040788
TC07000695.hg
g4505696_3p_at
g4505696_3p_x_at
Participates
as a member of
Other forms of this molecule
SLC26A4 T416P [plasma membrane]
SLC26A4 H723R [plasma membrane]
SLC26A4 L236P [plasma membrane]
SLC26A4 F667C [plasma membrane]
SLC26A4 [plasma membrane]
Modified Residues
Name
L-glutamic acid 384 replaced with glycine
Coordinate
384
PsiMod
glycine residue [MOD:00017]
A protein modification that effectively converts a source amino acid residue to a glycine.
L-glutamic acid removal [MOD:01636]
A protein modification that effectively removes or replaces an L-glutamic acid.
Disease
Name Identifier Synonyms
goiter DOID:12176
sensorineural hearing loss DOID:10003 Perceptive hearing loss, Perceptive deafness [diagnos], Perceptive hearing loss or deafness, high-frequency hearing loss, central hearing loss, sensorineural hearing loss, Sensorineural Deafness, High frequency deafness, Sensory hearing loss, High Frequency Hearing Loss
Cross References
Guide to Pharmacology - Targets
ENSEMBL
OpenTargets
HPA
PRO
Pharos - Targets
GlyGen
Orphanet
HMDB Protein
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