| Type | Description |
|---|---|
| Definition | GIPC PDZ domain containing family member 3 |
| Date | Results | Publications |
|---|---|---|
| 2018-07-14 10:40:00 | This study is the first report of the contribution of theGIPC3 gene to hearing loss in the Iranian population | 29605370 |
| 2015-08-22 10:47:00 | This study expands the mutational spectrum of GIPC3 in autosomal recessive nonsyndromic hearing impairment. | 25296581 |
| 2013-08-31 11:15:00 | This study identified a novel causative mutation in GIPC3 for congenital nonsyndromic hearing loss in a consanguineous family from Saudi Arabia. | 23510777 |
| 2012-01-26 05:53:00 | A maximum 2-point LOD score of 3.08 was obtained for the marker D19S586. The region overlaps with the recessive locus DFNB15. | 18066515 |
| 2012-01-21 10:55:00 | Haplotype analysis excluded GIPC3 from the obligate linkage interval in this family and defined a novel locus spanning 4.08 Mb and 104 genes. | 21660509 |
| Type | IDs |
|---|---|
| Synonymous | C19orf64, DFNB15, DFNB72, DFNB95 |
| Gene |
UniProtKB-ID:
GIPC3_HUMAN,
A0A2R8Y651_HUMAN
UniprotKB:
Q8TF64,
A0A2R8Y651
UniParc:
UPI000387DED7,
UPI000006F1A9
EMBL:
BC117312,
AC005175,
AC116968,
AB073738,
BC117314
Ensembl:
ENSG00000179855
KO:
hsa:126326
|
| Nucleutide sequences |
EMBL-CDS:
AAC24304.1,
BAB84712.1,
AAI17315.1,
AAI17313.1
Ensembl_TRS:
ENST00000644452,
ENST00000644946
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000493901,
ENSP00000495068
RefSeq:
NP_573568.1,
XP_005259549.1
|
| Others |
UniRef100:
UniRef100_A0A2R8Y651,
UniRef100_Q8TF64
UniRef90:
UniRef90_Q8TF64,
UniRef90_A0A2R8Y651
UniRef50:
UniRef50_A0A5F8A0N9,
UniRef50_Q8TF64
UniGene:
Hs.266873
CCDS:
CCDS32871.1
|
| {{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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