Reactome will be unavailable due to host maintenance from Friday, April 27 at 6pm to Sunday, April 29 at 11:55pm.

During the outage, you may wish to use our mirror site at reactome.ncpsb.org.

SLC26A4 L236P

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
CCDS5746
ENSG00000091137
ENSP00000265715
ENST00000265715
EntrezGene:5172
g4505696_3p_at
g4505696_3p_x_at
GE54241
GO:0005254
GO:0005886
GO:0005887
GO:0006810
GO:0006811
GO:0006821
GO:0006885
GO:0007605
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:0031526
GO:0032880
GO:0042391
GO:0051453
GO:0055085
GO:0070062
GO:0098656
GO:1902358
GO:1902476
HGNC:8818
HPA042860
Hs.571246
ILMN_1652465
MIM:274600
MIM:600791
MIM:605646
NM_000441
NP_000432
PF00916
PF01740
PH_hs_0040788
SLC26A4
SLC26A4-201
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 HEY
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
GeneCards
PRO
Orphanet
HMDB Protein