| Type | Description |
|---|---|
| Definition | solute carrier family 20 member 2 |
| Date | Results | Publications |
|---|---|---|
| 2021-01-16 15:53:00 | Interplay between primary familial brain calcification-associated SLC20A2 and XPR1 phosphate transporters requires inositol polyphosphates for control of cellular phosphate homeostasis. | 32393577 |
| 2020-11-21 13:20:00 | Partial reduced Pi transport function of PiT-2 might not be sufficient to induce brain calcification of idiopathic basal ganglia calcification. | 31754123 |
| 2020-08-13 18:50:00 | Slc20a2, Encoding the Phosphate Transporter PiT2, Is an Important Genetic Determinant of Bone Quality and Strength. | 30721528 |
| 2020-07-25 11:20:00 | Our results confirm that deletion in SLC20A2 is a causal mechanism for PFBC and highlight the importance of functional study for classifying a rare missense variant as (likely) pathogenic. | 30891739 |
| 2020-05-23 10:04:00 | Biallelic mutations in SLC20A2 cause severe symptoms and brain calcification in primary familial brain calcification in China. | 31003906 |
| Type | IDs |
|---|---|
| Synonymous | GLVR-2, GLVR2, IBGC1, IBGC3, MLVAR, PIT-2, PIT2, RAM1, Ram-1 |
| Gene |
UniProtKB-ID:
S20A2_HUMAN,
B4DJ71_HUMAN,
A0A384MR38_HUMAN,
B2RBR4_HUMAN
UniprotKB:
Q08357,
B4DJ71,
A0A384MR38,
B2RBR4
UniParc:
UPI00017508BB,
UPI00017A713E,
UPI000006DC58
EMBL:
BC028600,
AK314774,
L20852,
GQ900924,
AK295952,
AK291202
Ensembl:
ENSG00000168575
KO:
hsa:6575
|
| Nucleutide sequences |
EMBL-CDS:
BAF83891.1,
AAH28600.1,
AAA18018.1,
BAG58733.1,
ADO22441.1,
BAG37311.1
Ensembl_TRS:
ENST00000342228,
ENST00000520179,
ENST00000520262
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000429712,
ENSP00000340465,
ENSP00000429754
RefSeq:
NP_001244110.1,
XP_016869238.1,
XP_005273672.1,
NP_006740.1,
XP_016869240.1,
XP_006716453.1,
XP_005273670.1,
XP_016869237.1,
XP_024303003.1,
XP_006716454.1,
XP_024303004.1,
XP_024303005.1,
XP_016869239.1,
XP_016869241.1,
NP_001244109.1
|
| Others |
UniRef100:
UniRef100_B4DJ71,
UniRef100_Q08357,
UniRef100_B2RBR4
UniRef90:
UniRef90_Q08357,
UniRef90_B4DJ71
UniRef50:
UniRef50_B4DJ71,
UniRef50_Q08357
UniGene:
Hs.653173,
Hs.654763
CCDS:
CCDS6132.1
|
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|---|---|---|---|---|---|---|---|---|
| Refseq |
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