| Type | Description |
|---|---|
| Definition | protein tyrosine phosphatase non-receptor type 23 |
| Date | Results | Publications |
|---|---|---|
| 2021-02-06 13:52:00 | Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities. | 31395947 |
| 2019-03-09 12:59:00 | Our report provides the first description of the clinical phenotype of recessive PTPN23 variants with pathogenicity substantiated by a functional study | 29899372 |
| 2017-12-09 12:47:00 | Mutations in PTPN23 gene is associated with developmental and epileptic encephalopathy. | 29090338 |
| 2017-11-26 01:05:00 | HD-PTP/PTPN23 as a prominent haploinsufficient tumor suppressor gene preventing tumor progression through control of integrin trafficking. | 27210750 |
| 2017-11-25 14:13:00 | the underlying mechanism of PTPN23 function in breast tumorigenesis as that of a key phosphatase that normally suppresses the activity of FYN | 29066500 |
| Type | IDs |
|---|---|
| Synonymous | HD-PTP, HDPTP, PTP-TD14 |
| Gene |
UniProtKB-ID:
PTN23_HUMAN,
B4DST5_HUMAN
UniprotKB:
Q9H3S7,
B4DST5
UniParc:
UPI000006EBC4,
UPI00017A7C8C
EMBL:
CH471055,
AB040904,
BC027711,
AK289502,
BC004881,
AF290614,
AB025194,
AK299906,
AL110210,
BC089042,
AF169350,
BT009758
Ensembl:
ENSG00000076201
KO:
hsa:25930
|
| Nucleutide sequences |
EMBL-CDS:
AAH27711.2,
AAD50276.1,
BAA95995.2,
AAH89042.1,
AAP88760.1,
AAK28025.1,
EAW64823.1,
AAH04881.2,
CAB53676.1,
BAF82191.1,
BAB19280.1,
BAG61747.1
Ensembl_TRS:
ENST00000265562
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000265562
RefSeq:
NP_001291411.1,
XP_005265088.2,
NP_056281.1
|
| Others |
UniRef100:
UniRef100_Q9H3S7
UniRef90:
UniRef90_Q9H3S7
UniRef50:
UniRef50_Q9H3S7
UniGene:
Hs.25524
CCDS:
CCDS2754.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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