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SLC24A4 A146V [plasma membrane]
Stable Identifier
R-HSA-5626265
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
plasma membrane
Synonyms
Sodium/potassium/calcium exchanger 4, NCKX4_HUMAN
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Disorders of transmembrane transporters (Homo sapiens)
SLC transporter disorders (Homo sapiens)
Defective SLC24A4 causes hypomineralized amelogenesis imperfecta (AI) (Homo sapiens)
Defective SLC24A4 does not exchange extracellular 4Na+ for cytosolic Ca2+, K+ (Homo sapiens)
SLC24A4 mutants [plasma membrane] (Homo sapiens)
SLC24A4 A146V [plasma membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:Q8NFF2 SLC24A4
Gene Names
SLC24A4, NCKX4
Chain
signal peptide:1-38, chain:39-622
Reference Genes
BioGPS Gene:123041 SLC24A4
COSMIC (genes):SLC24A4 SLC24A4
CTD Gene:123041 SLC24A4
dbSNP Gene:123041 SLC24A4
ENSEMBL:ENSG00000140090 SLC24A4
HGNC:10978 SLC24A4
KEGG Gene (Homo sapiens):123041 SLC24A4
Monarch:123041 SLC24A4
NCBI Gene:123041 SLC24A4
OMIM:609840 SLC24A4
UCSC:Q8NFF2 SLC24A4
Reference Transcript
RefSeq:NM_153646.3 SLC24A4
RefSeq:NM_153647.3 SLC24A4
RefSeq:NM_153648.3 SLC24A4
Other Identifiers
0000870280
0005910364
11735593_a_at
11735594_a_at
123041
1568870_at
16787564
243969_at
3548853
3548854
3548855
3548856
3548857
3548858
3548859
3548860
3548861
3548862
3548863
3548864
3548868
3548869
3548885
3548886
3548888
3548889
3548890
3548892
3548893
3548894
3548895
3548896
3548900
3548902
3548912
3548914
3548916
3548917
3548923
3548924
3548925
3548927
3548928
7976263
86080_at
A_14_P127959
A_23_P503010
A_33_P3318148
GE526582
GE795459
GO:0003674
GO:0005262
GO:0005575
GO:0005622
GO:0005737
GO:0005886
GO:0005887
GO:0006810
GO:0006811
GO:0006813
GO:0006814
GO:0006816
GO:0006874
GO:0007608
GO:0008150
GO:0008273
GO:0015293
GO:0015297
GO:0016020
GO:0016021
GO:0022857
GO:0035725
GO:0042592
GO:0044214
GO:0048646
GO:0048856
GO:0050877
GO:0050896
GO:0055085
GO:0070588
GO:0071805
GO:0097186
GO:0098656
Hs.177386.0.A1_3p_at
Hs2.385530.1.S1_3p_at
ILMN_1675391
ILMN_1708530
ILMN_1815949
ILMN_2370738
PH_hs_0010544
TC14000570.hg
TC14001815.hg
Participant Of
hasMember
SLC24A4 mutants [plasma membrane]
Other forms of this molecule
SLC24A4 S499C [plasma membrane]
SLC24A4 R339* [plasma membrane]
SLC24A4 [plasma membrane]
Modified Residues
Name
L-alanine 146 replaced with L-valine
Coordinate
146
PsiMod
L-alanine removal [MOD:01631]
A protein modification that effectively removes or replaces an L-alanine.
L-valine residue [MOD:00029]
A protein modification that effectively converts a source amino acid residue to an L-valine.
Disease
Name
Identifier
Synonyms
amelogenesis imperfecta
2187
Cross References
RefSeq
NP_705933.2
,
NP_705932.2
,
NP_705934.1
OpenTargets
ENSG00000140090
GeneCards
Q8NFF2
HPA
ENSG00000140090-SLC24A4
Ensembl
ENSP00000433302
,
ENSP00000431840
,
ENST00000532405
,
ENSP00000376948
,
ENST00000531433
,
ENST00000393265
,
ENSG00000140090
PRO
Q8NFF2
Orphanet
21893
HMDB Protein
HMDBP03054
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