| Type | Description |
|---|---|
| Definition | solute carrier family 24 member 4 |
| Date | Results | Publications |
|---|---|---|
| 2020-11-21 13:27:00 | Association between brown eye colour in rs12913832:GG individuals and SNPs in TYR, TYRP1, and SLC24A4. | 32915910 |
| 2020-07-18 11:22:00 | This nonsense sequence variant c.1192C > T (p.Gln398*) is the sixth disease-causing variant in SLC24A4, which extends its mutation spectrum and confirms the role of this gene in the morphogenesis of human tooth enamel. The identified variant highlights the critical role of SLC24A4 in causing a rare Amelogenesis imperfecta (AI) type in humans. | 32380970 |
| 2017-10-14 11:09:00 | no significant relation was noted between SLC24A4 rs10498633 and late-onset Alzheimer;s disease risk in neither apolipoprotein E (APOE) epsilon4 carriers nor non-carriers after adjusting for age and gender | 27215332 |
| 2017-04-29 10:51:00 | pigment cells express robust, functional NCKX4 activity | 27093457 |
| 2016-11-19 10:04:00 | mutations in SLC24A4 and SLC24A5 are responsible for the phenotypic defects observed in human amylogenesis imperfecta and non-syndromic oculocutaneous albinism patients. | 27129268 |
| Type | IDs |
|---|---|
| Synonymous | AI2A5, NCKX4, SHEP6, SLC24A2 |
| Gene |
UniProtKB-ID:
NCKX4_HUMAN
UniprotKB:
Q8NFF2
UniParc:
UPI0000072070,
UPI000217CB47,
UPI000044C5DE,
UPI000004A149
EMBL:
AK295059,
BC069653,
AF520704,
AF520706,
AL118559,
CH471061,
AL834225,
AF520705,
AK096171
Ensembl:
ENSG00000140090
KO:
hsa:123041
|
| Nucleutide sequences |
EMBL-CDS:
CAD38903.1,
AAH69653.1,
EAW81485.1,
BAC04715.1,
AAM76070.1,
BAG58108.1,
AAM76072.1,
AAM76071.1
Ensembl_TRS:
ENST00000532405,
ENST00000393265,
ENST00000531433
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000431840,
ENSP00000376948,
ENSP00000433302
RefSeq:
XP_011534742.1,
XP_011534741.1,
NP_705932.2,
XP_011534739.1,
XP_011534738.1,
XP_024305246.1,
NP_705934.1,
NP_705933.2,
NP_001365549.1,
XP_005267399.1,
XP_011534740.1
|
| Others |
UniRef100:
UniRef100_Q8NFF2
UniRef90:
UniRef90_Q8NFF2
UniRef50:
UniRef50_Q8NFF2
UniGene:
Hs.385530
CCDS:
CCDS45156.1,
CCDS45155.2,
CCDS9903.2
|
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|---|---|---|---|---|---|---|---|---|
| Refseq |
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