| Type | Description |
|---|---|
| Definition | PHD finger protein 21A |
| Date | Results | Publications |
|---|---|---|
| 2020-11-21 13:15:00 | of the BHC80 Gene Contributes to Neuroendocrine Prostate Cancer Progression. | 30910347 |
| 2020-06-20 11:30:00 | PHF21A is involved in autism spectrum disorder and intellectual disability, and its haploinsufficiency causes a diverse neurological phenotype. | 31649809 |
| 2019-05-25 11:44:00 | PHF21A truncating mutations were identified in three patients with intellectual disability and craniofacial anomalies. | 30487643 |
| 2019-02-23 12:30:00 | Study analyzed by RNA-Sequencing (RNA-Seq) two patient-derived cell lines with heterozygous loss of PHF21A compared to unaffected individuals and identified 1,885 genes that were commonly misregulated. The patient cells displayed down-regulation of key pathways relevant to learning and memory, including Cyclic Adenosine Monophosphate (cAMP)-signaling pathway genes. | 28571721 |
| 2017-10-21 12:22:00 | this case lends further support that haploinsufficiency of PHF21A contributes to the intellectual disability and craniofacial abnormalities in PSS and that there are other genes in the region which likely contribute to the behavioral phenotype in this syndrome. | 28127865 |
| Type | IDs |
|---|---|
| Synonymous | BHC80, BM-006 |
| Gene |
UniProtKB-ID:
PF21A_HUMAN
UniprotKB:
Q96BD5
UniParc:
UPI000004F8A7,
UPI00003667A7,
UPI000006E1CB
EMBL:
CH471064,
BX648236,
AF208848,
AY090777,
AB051483,
BC015714,
AK023258,
AK021530
Ensembl:
ENSG00000135365
KO:
hsa:51317
|
| Nucleutide sequences |
EMBL-CDS:
AAH15714.1,
EAW68013.1,
EAW68012.1,
CAH10542.1,
BAB14492.1,
BAB21787.1,
BAB13839.1,
AAM09095.1,
AAF64262.1,
EAW68015.1,
EAW68017.1
Gene_ORFName:
BM-006
Ensembl_TRS:
ENST00000418153,
ENST00000323180
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000323152,
ENSP00000398824
RefSeq:
XP_016873386.1,
XP_016873390.1,
NP_001338955.1,
XP_016873376.1,
XP_016873384.1,
XP_011518469.1,
XP_016873396.1,
XP_016873383.1,
XP_011518468.1,
XP_011518477.1,
XP_016873391.1,
XP_016873389.1,
XP_011518460.1,
XP_016873382.1,
XP_016873377.1,
XP_011518464.1,
NP_001338960.1,
XP_016873394.1,
NP_001095272.1,
XP_016873379.1,
NP_001338956.1,
XP_011518476.1,
XP_016873385.1,
XP_024304344.1,
XP_011518466.1,
XP_011518463.1,
XP_011518481.1,
XP_016873380.1,
XP_016873381.1,
XP_024304346.1,
XP_011518467.1,
NP_001338957.1,
XP_016873395.1,
XP_011518459.1,
XP_016873387.1,
NP_001338961.1,
XP_016873375.1,
XP_011518470.1,
XP_024304342.1,
NP_001338958.1,
NP_057705.3,
XP_016873374.1,
XP_011518462.1,
XP_005253022.1,
XP_024304343.1,
NP_001338959.1,
NP_001338954.1,
XP_016873388.1,
XP_016873397.1,
XP_016873378.1,
XP_024304345.1
|
| Others |
UniRef100:
UniRef100_Q96BD5
UniRef90:
UniRef90_Q96BD5
UniRef50:
UniRef50_Q96BD5
UniGene:
Hs.502458
CCDS:
CCDS31474.1,
CCDS44578.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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