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SLC9A6 255-256del [early endosome membrane]
Stable Identifier
R-HSA-5661066
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
early endosome membrane
Synonyms
Sodium/hydrogen exchanger 6, SL9A6_HUMAN
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Disorders of transmembrane transporters (Homo sapiens)
SLC transporter disorders (Homo sapiens)
Defective SLC9A6 causes X-linked, syndromic mental retardation,, Christianson type (MRXSCH) (Homo sapiens)
Defective SLC9A6 does not exchange Na+ for H+ across the early endosome membrane (Homo sapiens)
SLC9A6 mutants [early endosome membrane] (Homo sapiens)
SLC9A6 255-256del [early endosome membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:Q92581 SLC9A6
Gene Names
SLC9A6, KIAA0267, NHE6
Chain
chain:1-669
Reference Genes
BioGPS Gene:10479 SLC9A6
COSMIC (genes):SLC9A6 SLC9A6
CTD Gene:10479 SLC9A6
dbSNP Gene:10479 SLC9A6
ENSEMBL:ENSG00000198689.13 SLC9A6
HGNC:11079 SLC9A6
KEGG Gene (Homo sapiens):10479 SLC9A6
Monarch:10479 SLC9A6
NCBI Gene:10479 SLC9A6
OMIM:300231 SLC9A6
UCSC:Q92581 SLC9A6
Reference Transcript
RefSeq:NM_001177651.1 SLC9A6
RefSeq:XM_006724726.3 SLC9A6
RefSeq:NM_001042537.1 SLC9A6
RefSeq:XM_017029224.1 SLC9A6
RefSeq:NM_006359.2 SLC9A6
RefSeq:XM_017029223.1 SLC9A6
Other Identifiers
0001050056
10479
11719516_a_at
11719517_a_at
17107206
17107211
203909_PM_at
203909_at
36542_at
3992352
3992355
3992356
3992360
3992361
3992362
3992363
3992364
3992367
3992370
3992372
3992373
3992376
3992377
3992378
3992379
3992381
3992382
3992383
3992384
3992385
64264_r_at
8170097
A_23_P22625
A_24_P410562
D87743_at
GE54235
GO:0005215
GO:0005515
GO:0005622
GO:0005737
GO:0005768
GO:0005783
GO:0005789
GO:0005886
GO:0006811
GO:0006812
GO:0006814
GO:0006885
GO:0010008
GO:0015297
GO:0015299
GO:0015385
GO:0015386
GO:0016020
GO:0016021
GO:0030154
GO:0031410
GO:0031901
GO:0043226
GO:0043231
GO:0048675
GO:0048812
GO:0048856
GO:0051453
GO:0055037
GO:0055038
GO:0055085
GO:0071805
GO:0097484
GO:0098719
GO:1902600
HMNXSV003044497
ILMN_1655892
ILMN_1677829
ILMN_2269619
ILMN_2363097
PH_hs_0003938
TC0X000656.hg
TC0X000657.hg
g5454069_3p_at
Participates
as a member of
SLC9A6 mutants [early endosome membrane] (Homo sapiens)
Other forms of this molecule
SLC9A6 E547* [early endosome membrane]
SLC9A6 R468* [early endosome membrane]
SLC9A6 338-340del [early endosome membrane]
SLC9A6 H171fs*60 [early endosome membrane]
SLC9A6 [early endosome membrane]
Modified Residues
Name
Deletion of residues 255 to 256
Disease
Name
Identifier
Synonyms
syndromic intellectual disability
DOID:0050888
Cross References
RefSeq
XP_016884712.1
,
XP_006724789.1
,
NP_001036002.1
,
XP_016884713.1
,
NP_006350.1
,
NP_001171122.1
Guide to Pharmacology - Targets
953
OpenTargets
ENSG00000198689
GeneCards
Q92581
HPA
ENSG00000198689-SLC9A6
Ensembl
ENST00000637581
,
ENST00000636347
,
ENSP00000490527
,
ENST00000636092
,
ENSP00000359729
,
ENST00000370701
,
ENST00000370698
,
ENST00000637234
,
ENST00000370695
,
ENSP00000359735
,
ENSG00000198689
,
ENSP00000490648
,
ENSP00000359732
,
ENSP00000490406
,
ENSP00000490731
PRO
Q92581
Pharos - Targets
Q92581
Orphanet
17207
HMDB Protein
HMDBP07998
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