| Type | Description |
|---|---|
| Definition | chromosome 12 open reading frame 4 |
| Date | Results | Publications |
|---|---|---|
| 2017-06-24 11:34:00 | Results indicate a founder missense variant (p.Leu328Pro) in seven affected individuals from two Finnish consanguineous families and a deletion (p.Gln267fs) in one affected individual from a consanguineous Dutch family in the C12orf4 gene on chromosome 12. | 27311568 |
| 2016-04-02 10:08:00 | Mass spectrometry analysis identified protein RGD1311164 (C12orf4), with no previously described function. Our data demonstrate that RGD1311164 is a cytoplasmic protein implicated in the early signaling events following FcepsilonRI-induced cell activation | 25122211 |
| Type | IDs |
|---|---|
| Gene |
UniProtKB-ID:
CL004_HUMAN
UniprotKB:
Q9NQ89
UniParc:
UPI0000038C60
EMBL:
CH471116,
AJ272205,
AL834377,
BX641128,
BC016908
Ensembl:
ENSG00000047621
KO:
hsa:57102
|
| Nucleutide sequences |
EMBL-CDS:
CAD39040.1,
EAW88845.1,
CAC01126.1,
AAH16908.1,
CAE46058.1,
EAW88846.1
Ensembl_TRS:
ENST00000261250,
ENST00000545746
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000439996,
ENSP00000261250
RefSeq:
NP_001339891.1,
XP_006719055.1,
NP_001333084.1,
NP_001333085.1,
NP_001333082.1,
NP_001333086.1,
NP_001291740.1,
NP_065107.1
|
| Others |
UniRef100:
UniRef100_Q9NQ89
UniRef90:
UniRef90_Q9NQ89
UniRef50:
UniRef50_Q9NQ89
UniGene:
Hs.302977
CCDS:
CCDS8528.1
|
| {{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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