| Type | Description |
|---|---|
| Definition | gap junction protein beta 3 |
| Date | Results | Publications |
|---|---|---|
| 2020-12-26 13:12:00 | The mutation frequencies of GJB2, GJB3, SLC26A4 and MT-RNR1 of patients with severe to profound sensorineural hearing loss in northwest China. | 32645618 |
| 2020-09-26 13:02:00 | Case of erythrokeratodermia variabilis successfully treated with narrowband ultraviolet B. | 31599015 |
| 2020-09-12 16:06:00 | A rare missense mutation in GJB3 (Cx31G45E) is associated with a unique cellular phenotype resulting in necrotic cell death. | 29570224 |
| 2019-08-03 13:08:00 | Four patients were identified to carry the GJB3 mutation in a heterozygous state, including three with c.538C > T and one with c.547G > A | 31035178 |
| 2019-07-06 12:16:00 | Here, we reported a novel compound heterozygous mutations of GJB3 gene in a Chinese EKPV family with autosomal recessive inheritance pattern. | 29992552 |
| Type | IDs |
|---|---|
| Synonymous | CX31, DFNA2, DFNA2B, EKV, EKVP1 |
| Gene |
UniProtKB-ID:
CXB3_HUMAN,
A0A654ICK0_HUMAN
UniprotKB:
O75712,
A0A654ICK0
UniParc:
UPI00001287EC
EMBL:
AF052692,
CH471059,
BC110640,
AK312890,
BC012918,
LT990251,
AF099730,
AJ004856,
AL121988
Ensembl:
ENSG00000188910
KO:
hsa:2707
|
| Nucleutide sequences |
EMBL-CDS:
AAI10641.1,
EAX07442.1,
AAC95471.1,
AAD11816.1,
BAG35737.1,
AAH12918.1,
CAA06165.1,
VZP20051.1
Ensembl_TRS:
ENST00000373362,
ENST00000373366
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000362464,
ENSP00000362460
RefSeq:
NP_076872.1,
NP_001005752.1
|
| Others |
UniRef100:
UniRef100_O75712
UniRef90:
UniRef90_O75712
UniRef50:
UniRef50_O95377
UniGene:
Hs.522561
CCDS:
CCDS384.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
{{protein.nucleotideVersion}}
Ensembl: {{protein.nucleotideEnsembl}} |
{{protein.proteinVersion}}
Ensembl: {{protein.proteinEnsembl}} |
{{uniprot}} , |
Definition: {{{protein.definition}}}Transcript Veriant:{{protein.transcriptVeriant}} Status: {{protein.status}} |
||||
| 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}} - |
{{conservedDomain.comments == '' || conservedDomain.comments == null ? "-" : conservedDomain.comments }} |
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}} - |
{{conservedDomain.comments == '' || conservedDomain.comments == null ? "-" : conservedDomain.comments }} |
||||
暂无数据
| 排名 | 科研单位 | 文献 |
|---|---|---|
| {{affIndex+1}} |
{{aff.value}} |
{{aff.size}} |
目前还没有研究热点单位
| 排名 | 研究人员 | 文献 |
|---|---|---|
| {{authorIndex+1}} |
{{author.value}} |
{{author.size}} |
目前还没有研究热点人员