| Type | Description |
|---|---|
| Definition | PDZ domain containing 7 |
| Date | Results | Publications |
|---|---|---|
| 2020-01-25 14:49:00 | PDZD7 can be an important causative gene for moderate to severe in Koreans. Moreover, at least some, if not all, p.Arg164Trp alleles in Koreans could exert a potential founder effect and arise from diverse haplotypes as a mutational hot spot. | 31454969 |
| 2019-07-20 12:27:00 | Three mutations in PDZD7 gene linked to autosomal recessive non-syndromic hearing loss were identified in a Chinese pedigree. The findings expand not only our knowledge of genetic causes of but also PDZD7 genes mutation spectrum of the disease. They will aid personalized genetic counseling, molecular diagnostics and clinical management of this condition. | 31129248 |
| 2019-06-15 10:54:00 | Lnc-PDZD7 promotes stemness properties and suppresses chemosensitivity though the miR-101/EZH2/ATOH8 pathway. | 30786928 |
| 2018-06-23 10:35:00 | This is the first report to identify PDZD7 as an gene in the Chinese population. Our finding could expand the pathogenic spectrum and strengthens the clinical diagnostic role of the PDZD7 gene in patients. | 29048736 |
| 2018-01-13 13:06:00 | PDZD7 is confirmed as a bona fide autosomal recessive nonsyndromic hearing loss gene. | 26849169 |
| Type | IDs |
|---|---|
| Synonymous | DFNB57, PDZK7 |
| Gene |
UniProtKB-ID:
PDZD7_HUMAN,
A0A2R8YFN1_HUMAN,
A0A2R8Y892_HUMAN
UniprotKB:
Q9H5P4,
A0A2R8YFN1,
A0A2R8Y892
UniParc:
UPI000387BBFD,
UPI0000576821,
UPI0007DC6F54,
UPI0000072FD2,
UPI0001D15DE5
EMBL:
AL133215,
FJ617449,
AK026862,
BC029054
Ensembl:
ENSG00000186862
KO:
hsa:79955
|
| Nucleutide sequences |
EMBL-CDS:
AAH29054.1,
ACU45386.1,
BAB15577.1
Ensembl_TRS:
ENST00000370215,
ENST00000619208,
ENST00000645349,
ENST00000644782
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000480489,
ENSP00000359234,
ENSP00000495283,
ENSP00000496747
RefSeq:
XP_016872157.1,
XP_011538481.1,
XP_011538483.1,
XP_011538479.1,
NP_079171.1,
XP_005270222.1,
XP_011538480.1,
XP_016872156.1,
NP_001182192.1,
XP_011538485.1,
NP_001337973.1
|
| Others |
UniRef100:
UniRef100_A0A2R8Y892,
UniRef100_A0A2R8YFN1,
UniRef100_Q9H5P4
UniRef90:
UniRef90_A0A2R8Y892,
UniRef90_A0A2R8YFN1,
UniRef90_Q9H5P4
UniRef50:
UniRef50_E9Q9W7-2,
UniRef50_Q9H5P4-1,
UniRef50_Q9H5P4
UniGene:
Hs.438245
CCDS:
CCDS73182.1,
CCDS31269.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| 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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