Type | Description |
---|---|
Definition | solute carrier family 9 member A6 |
Date | Results | Publications |
---|---|---|
2020-12-26 13:11:00 | Assorted dysfunctions of endosomal alkali cation/proton exchanger SLC9A6 variants linked to Christianson syndrome. | 32277048 |
2019-01-19 11:03:00 | NHE6 role in the neoplasm chemoresistance.NHE6 transport from endosomes to the plasma membrane triggers endosome hyperacidification. | 28635961 |
2017-11-11 10:49:00 | membrane trafficking of the ES mutant in SLC9A6was impaired and elicited marked reductions in total dendritic length, area and arborization, and triggered apoptotic cell death | 27590723 |
2017-10-28 12:00:00 | by sequencing panels of genes in patients with no precise clinical diagnosis, NGS can broaden the clinical variability associated with a known gene. We also argue that SLC9A6 gene mutations in females could be responsible for a monogenic cause of mild learning disability/constitutive speech disorders. | 27256868 |
2017-06-24 10:41:00 | We describe a large extended family with three affected males, four carrier females, one presumed carrier female and one obligate carrier female with a c.190G>T, p.E64X mutation known to cause a premature stop codon in SLC9A6 | 27142213 |
Type | IDs |
---|---|
Synonymous | MRSA, NHE6 |
Gene |
UniProtKB-ID:
SL9A6_HUMAN,
A0A1B0GV11_HUMAN
UniprotKB:
Q92581,
A0A1B0GV11
UniParc:
UPI00002125B7,
UPI0000062320,
UPI00002125B8,
UPI000012FD2F
EMBL:
D87743,
BC035029,
AF030409,
AL732579,
AK316255,
AK300475,
BC049169,
AK289775
Ensembl:
ENSG00000198689
KO:
hsa:10479
|
Nucleutide sequences |
EMBL-CDS:
BAA13449.1,
BAG62192.1,
AAC39643.1,
BAF82464.1,
AAH35029.1,
AAH49169.1,
BAH14626.1
Ensembl_TRS:
ENST00000370701,
ENST00000636347,
ENST00000637234,
ENST00000636092,
ENST00000637581,
ENST00000370698,
ENST00000370695,
ENST00000637195
|
Protein sequencees |
Ensembl_PRO:
ENSP00000490527,
ENSP00000359732,
ENSP00000490731,
ENSP00000490406,
ENSP00000490648,
ENSP00000359729,
ENSP00000359735,
ENSP00000490330
RefSeq:
NP_006350.1,
NP_001171122.1,
XP_016884713.1,
XP_016884714.1,
NP_001036002.1,
XP_006724789.1,
XP_016884712.1,
NP_001317581.1,
NP_001366039.1
|
Others |
UniRef100:
UniRef100_Q92581
UniRef90:
UniRef90_Q92581
UniRef50:
UniRef50_Q92581
UniGene:
Hs.62185
CCDS:
CCDS44003.1,
CCDS55504.1,
CCDS14654.1
|
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Refseq |
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