| Type | Description |
|---|---|
| Definition | gap junction protein gamma 3 |
| Date | Results | Publications |
|---|---|---|
| 2021-03-06 13:33:00 | GJB4 and GJC3 variants in non-syndromic hearing impairment in Ghana. | 32524838 |
| 2017-07-22 10:25:00 | Based on these findings, we suggest that p.W77S mutant has a dominant negative effect on the formation and function of the gap junction. These results give a novel molecular elucidation for the mutation of GJC3 in the development of hearing loss. | 28367085 |
| 2013-12-14 12:02:00 | Although p.R15G and p.L23H mutants do not decrease the trafficking of CX proteins, mutations in GJC3 genes result in a loss of hemichannel function of CX30.2/CX31.3 protein, possibly causing hearing loss. | 23179405 |
| 2011-12-03 10:28:00 | The connexin30.2/CX31.3 shares functional properties with pannexin (hemi) channels rather than gap junction channels of other Connexins. | 21480002 |
| 2010-12-11 11:15:00 | Mutations in the Cx29 gene do not play a role in the causation of non syndromic hearing impairment in Indian population. | 20632892 |
| Type | IDs |
|---|---|
| Synonymous | CX29, CX30.2, CX31.3, GJE1 |
| Gene |
UniProtKB-ID:
CXG3_HUMAN
UniprotKB:
Q8NFK1
UniParc:
UPI0000071F87
EMBL:
CH471091,
BC043381,
AF503615,
CH236956,
AY297109
Ensembl:
ENSG00000176402
KO:
hsa:349149
|
| Nucleutide sequences |
EMBL-CDS:
AAH43381.1,
AAM21145.1,
EAL23863.1,
AAP51161.1,
EAW76624.1
Ensembl_TRS:
ENST00000312891
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000325775
RefSeq:
NP_853516.1
|
| Others |
UniRef100:
UniRef100_Q8NFK1
UniRef90:
UniRef90_Q8NFK1
UniRef50:
UniRef50_Q921C1
UniGene:
Hs.647524
CCDS:
CCDS34697.1
|
| {{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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