Type | Description |
---|---|
Definition | multiple coagulation factor deficiency 2 |
Date | Results | Publications |
---|---|---|
2019-02-23 13:00:00 | MCFD2-deficient mice generated by gene targeting also demonstrate reduced plasma FV and FVIII, with levels lower than those in LMAN1-deficient mice, similar to previous observations in LMAN1- and MCDF2-deficient humans. | 29735583 |
2010-01-21 00:00:00 | These results indicate that increased levels of cargo receptor proteins might have a function either in the quality control of protein folding in the endoplasmic reticulum or in the homeostasis of the intermediate compartment and Golgi complex. | 16899390 |
Type | IDs |
---|---|
Synonymous | 1810021C21Rik, F5f8d, Lman1ip, Sdnsf |
Gene |
UniProtKB-ID:
MCFD2_MOUSE,
D0EW11_MOUSE
UniprotKB:
Q8K5B2,
D0EW11
UniParc:
UPI0000028E54
EMBL:
AF475283,
AK077139,
AK141599,
AK075781,
AK077631,
GQ896356,
GQ896355,
AK151803,
AK033139
Ensembl:
ENSMUSG00000024150
KO:
mmu:193813
|
Nucleutide sequences |
EMBL-CDS:
BAC36638.1,
BAC28169.1,
BAC36914.1,
BAE30702.1,
BAE24757.1,
AAM28464.1,
BAC35955.1,
ACX48448.1,
ACX48449.1
Ensembl_TRS:
ENSMUST00000024963,
ENSMUST00000129616,
ENSMUST00000144236
|
Protein sequencees |
Ensembl_PRO:
ENSMUSP00000123352,
ENSMUSP00000121820,
ENSMUSP00000024963
RefSeq:
XP_030105467.1,
XP_030105469.1,
XP_006523964.1,
XP_030105468.1,
XP_006523963.1,
NP_647456.1,
XP_011244630.1,
NP_789778.1
|
Others |
UniRef100:
UniRef100_Q8K5B2
UniRef90:
UniRef90_Q8K5B3
UniRef50:
UniRef50_Q8K5B3
UniGene:
Mm.30251
CCDS:
CCDS29015.1
|
{{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
---|---|---|---|---|---|---|---|---|
Refseq |
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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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