| Type | Description |
|---|---|
| Definition | phospholipase C beta 4 |
| Date | Results | Publications |
|---|---|---|
| 2021-03-27 14:41:00 | Mutations of GNAQ, GNA11, SF3B1, EIF1AX, PLCB4 and CYSLTR in Uveal Melanoma in Chinese Patients. | 31614358 |
| 2021-01-02 12:50:00 | A familial PLCB4 mutation causing auriculocondylar syndrome 2 with variable severity. | 32201334 |
| 2017-11-18 12:25:00 | Dysregulation of primary PLC signaling is linked to several brain disorders including epilepsy, schizophrenia, bipolar disorder, Huntington's disease, depression and Alzheimer's disease. (Review) | 26639088 |
| 2017-11-04 10:40:00 | Novel pathogenic variants in PLCB4 have been found in two of three index patients with typical Auriculocondylar syndrome. | 28328130 |
| 2017-10-28 11:16:00 | Our observations of this case further delineate the phenotype of ACS associated with autosomal recessive PLCB4 loss-of-function mutations, underscoring gastrointestinal dysfunction and severe sleep-related breathing abnormalities as additional features when compared to patients with heterozygous mutations with a presumed dominant negative effect. | 27007857 |
| Type | IDs |
|---|---|
| Synonymous | ARCND2, PI-PLC |
| Gene |
UniProtKB-ID:
PLCB4_HUMAN
UniprotKB:
Q15147
UniParc:
UPI000002B10B,
UPI00002069DF,
UPI00002069E6,
UPI0000131A94
EMBL:
AL121898,
BC117458,
AL031652,
AL121909,
BC143868,
L41349,
AL023805
Ensembl:
ENSG00000101333
KO:
hsa:5332
|
| Nucleutide sequences |
EMBL-CDS:
AAI17459.1,
AAI43869.1,
AAB02027.1
Ensembl_TRS:
ENST00000414679,
ENST00000378501,
ENST00000378493,
ENST00000378473,
ENST00000278655
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000367762,
ENSP00000367754,
ENSP00000367734,
ENSP00000278655,
ENSP00000390616
RefSeq:
XP_016883375.1,
XP_005260781.1,
XP_024307677.1,
NP_001364064.1,
NP_001364065.1,
XP_016883371.1,
XP_024307668.1,
XP_024307678.1,
XP_005260785.1,
XP_016883373.1,
XP_024307676.1,
XP_024307673.1,
XP_024307672.1,
NP_001364063.1,
XP_011527556.1,
NP_877949.2,
XP_006723632.1,
XP_024307666.1,
XP_024307675.1,
XP_016883372.1,
NP_000924.3,
NP_001166117.1,
XP_016883369.1,
NP_001364071.1,
NP_001364072.1
|
| Others |
UniRef100:
UniRef100_Q15147
UniRef90:
UniRef90_Q15147
UniRef50:
UniRef50_Q15147
UniGene:
Hs.472101
CCDS:
CCDS54447.1,
CCDS13104.1,
CCDS13105.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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