SLC26A4 L236P [plasma membrane]

Stable Identifier
R-HSA-5627857
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
Pendrin, S26A4_HUMAN
Locations in the PathwayBrowser
External Reference Information
External Reference
Gene Names
SLC26A4, PDS
Chain
chain:1-780
Other Identifiers
0003060497
11737329_at
11751234_a_at
17050251
206529_x_at
3018606
3018612
3018615
3018616
3018617
3018618
3018619
3018620
3018621
3018622
3018623
3018627
3018628
3018629
3018630
3018631
3018632
3018633
3018634
3018636
3018638
3018640
3018641
3018642
36376_at
42860
5172
8135436
A_14_P103076
A_14_P124932
A_23_P331560
AAB88773
AAC51873
BAH11752
C9JQG1
CCDS5746
ENSG00000091137
ENSP00000265715
ENSP00000494017
ENST00000265715
ENST00000644269
EntrezGene:5172
g4505696_3p_at
g4505696_3p_x_at
GE54241
GO:0003674
GO:0005575
GO:0005576
GO:0005615
GO:0005623
GO:0005886
GO:0006810
GO:0006811
GO:0006885
GO:0007605
GO:0008150
GO:0008271
GO:0008272
GO:0015106
GO:0015108
GO:0015111
GO:0015116
GO:0015301
GO:0015698
GO:0015701
GO:0015705
GO:0016020
GO:0016021
GO:0016324
GO:0019531
GO:0019532
GO:0022857
GO:0031526
GO:0032880
GO:0042391
GO:0042592
GO:0043226
GO:0050877
GO:0055085
GO:0070062
GO:0098656
GO:1902358
GO:1902476
HGNC:8818
HPA042860
ILMN_1652465
IPR001902
IPR002645
IPR011547
IPR018045
IPR030285
IPR036513
MIM:274600
MIM:600791
MIM:605646
NM_000441
NP_000432
PF00916
PF01740
PH_hs_0040788
SLC26A4
SLC26A4-201
SLC26A4-208
TC07000695.hg
uc003vep.4
UPI00001315A4
XM_005250425
XM_017012318
XP_005250482
XP_016867807
Participant Of
Other forms of this molecule
Modified Residues
Name
L-leucine 236 replaced with L-proline
Coordinate
236
PsiMod
A protein modification that effectively converts a source amino acid residue to L-proline.
A protein modification that effectively removes or replaces an L-leucine.
Disease
Name Identifier Synonyms
sensorineural hearing loss 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
goiter 12176
Cross References
OpenTargets
GeneCards
PRO
Orphanet
HMDB Protein