SLC9A6 255-256del

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
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 SLC9A6
ENSEMBL:ENSG00000198689 SLC9A6
HGNC:11079 SLC9A6
KEGG Gene (Homo sapiens):hsa:10479 SLC9A6
Monarch:10479 SLC9A6
NCBI Gene:10479 SLC9A6
OMIM:300231 SLC9A6
UCSC:Q92581 SLC9A6
Reference Transcript
Other Identifiers
0001050056
10479
11719516_a_at
11719517_a_at
17107206
17107211
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
59445
59590
64264_r_at
8170097
A0A0D9SFM4
A0A1B0GV11
A0A1B0GW29
A_23_P22625
A_24_P410562
AAC39643
AAH35029
AAH49169
AF030409
AK289775
AK300475
AK316255
AL732579
BAA13449
BAF82464
BAG62192
BAH14626
BC035029
BC049169
CCDS14654
CCDS44003
CCDS55504
D87743
D87743_at
ENSG00000198689
ENSP00000359729
ENSP00000359732
ENSP00000359735
ENSP00000490406
ENSP00000490527
ENSP00000490648
ENSP00000490731
ENST00000370695
ENST00000370698
ENST00000370701
ENST00000636092
ENST00000636347
ENST00000637234
ENST00000637581
EntrezGene:10479
g5454069_3p_at
GE54235
GO:0000902
GO:0003674
GO:0005575
GO:0005622
GO:0005623
GO:0005737
GO:0005768
GO:0005769
GO:0005770
GO:0005783
GO:0005789
GO:0005886
GO:0006810
GO:0006811
GO:0006812
GO:0006814
GO:0006885
GO:0007165
GO:0008150
GO:0010008
GO:0015297
GO:0015299
GO:0015385
GO:0015386
GO:0016020
GO:0016021
GO:0022857
GO:0030154
GO:0030425
GO:0031410
GO:0031547
GO:0031901
GO:0040007
GO:0042592
GO:0043226
GO:0043231
GO:0043679
GO:0044308
GO:0045202
GO:0048675
GO:0048812
GO:0048856
GO:0050808
GO:0051386
GO:0051453
GO:0055037
GO:0055038
GO:0055085
GO:0060996
GO:0071805
GO:0097484
GO:0098719
GO:1902600
HGNC:11079
HPA059445
HPA059590
ILMN_1655892
ILMN_1677829
ILMN_2269619
ILMN_2363097
IPR002090
IPR004709
IPR006153
IPR018422
MIM:300231
MIM:300243
NM_001042537
NM_001177651
NM_001330652
NM_006359
NP_001036002
NP_001171122
NP_001317581
NP_006350
PF00999
PH_hs_0003938
PR01084
PR01088
SLC9A6
SLC9A6-201
SLC9A6-202
SLC9A6-203
SLC9A6-207
SLC9A6-209
SLC9A6-213
SLC9A6-214
TC0X000656.hg
TC0X000657.hg
uc004ezj.3
uc004ezk.4
uc011mvx.3
UPI0000062320
UPI000012FD2F
UPI00002125B7
XM_006724726
XM_017029223
XM_017029224
XP_006724789
XP_016884712
XP_016884713
Participant Of
hasMember
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 0050888
Cross References
RefSeq
GeneCards
PRO
Orphanet
HMDB Protein