| Type | Description |
|---|---|
| Definition | protocadherin 12 |
| Date | Results | Publications |
|---|---|---|
| 2019-08-31 12:49:00 | WHSC1 gene variant is associated with dyskinetic cerebral palsy with epilepsy. | 29904113 |
| 2019-08-24 11:16:00 | Autosomal-recessive malformation, diencephalic-mesencephalic junction dysplasia syndrome patients have biallelic mutations in PCDH12 and lack of protein expression. | 30178464 |
| 2019-03-23 12:15:00 | Homozygous PCDH12 mutation is associated with cerebellar ataxia, dystonia, retinopathy, and dysmorphism. | 30459466 |
| 2017-04-29 10:24:00 | Genome-wide analysis to determine the genetic cause of a microcephaly syndrome; found that loss of function of PCDH12 leads to recessive congenital microcephaly with profound developmental disability | 27164683 |
| 2011-07-16 10:36:00 | PCDH12 may play an important role in human placental development, and proteolytic cleavage in response to external factors, such as cytokines and pathological settings, regulates its activity | 21402705 |
| Type | IDs |
|---|---|
| Synonymous | VE-cadherin-2, VECAD2 |
| Gene |
UniProtKB-ID:
PCD12_HUMAN
UniprotKB:
Q9NPG4
UniParc:
UPI00001313B4
EMBL:
AF240635,
AY358428,
AK023785,
AB026893,
AF231025,
AK024140,
AK027282
Ensembl:
ENSG00000113555
KO:
hsa:51294
|
| Nucleutide sequences |
EMBL-CDS:
BAB55016.1,
BAB14677.1,
BAA95162.1,
AAF61931.1,
AAF73962.1,
AAQ88794.1,
BAB14837.1
Gene_ORFName:
UNQ395/PRO731
Ensembl_TRS:
ENST00000231484
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000231484
RefSeq:
NP_057664.1,
XP_024301874.1
|
| Others |
UniRef100:
UniRef100_Q9NPG4
UniRef90:
UniRef90_Q9NPG4
UniRef50:
UniRef50_Q9NPG4
UniGene:
Hs.439474,
Hs.600230
CCDS:
CCDS4269.1
|
| {{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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