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MCFD2 [endoplasmic reticulum-Golgi intermediate compartment membrane]
Stable Identifier
R-HSA-5689836
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
endoplasmic reticulum-Golgi intermediate compartment membrane
Synonyms
Multiple coagulation factor deficiency protein 2, MCFD2_HUMAN
Locations in the PathwayBrowser
Expand all
Metabolism of proteins (Homo sapiens)
Post-translational protein modification (Homo sapiens)
Asparagine N-linked glycosylation (Homo sapiens)
Transport to the Golgi and subsequent modification (Homo sapiens)
ER to Golgi Anterograde Transport (Homo sapiens)
COPII-mediated vesicle transport (Homo sapiens)
BET1:GOSR2:STX5 bind v-SNARES on tethered vesicle (Homo sapiens)
COPII cargo:receptors [endoplasmic reticulum-Golgi intermediate compartment membrane] (Homo sapiens)
LMAN1:MCFD2:glycosylated FV, FVIII precursor [endoplasmic reticulum-Golgi intermediate compartment membrane] (Homo sapiens)
hexameric LMAN1:MCFD2 [endoplasmic reticulum-Golgi intermediate compartment membrane] (Homo sapiens)
MCFD2 [endoplasmic reticulum-Golgi intermediate compartment membrane] (Homo sapiens)
Vesicle-mediated transport (Homo sapiens)
Membrane Trafficking (Homo sapiens)
ER to Golgi Anterograde Transport (Homo sapiens)
COPII-mediated vesicle transport (Homo sapiens)
BET1:GOSR2:STX5 bind v-SNARES on tethered vesicle (Homo sapiens)
COPII cargo:receptors [endoplasmic reticulum-Golgi intermediate compartment membrane] (Homo sapiens)
LMAN1:MCFD2:glycosylated FV, FVIII precursor [endoplasmic reticulum-Golgi intermediate compartment membrane] (Homo sapiens)
hexameric LMAN1:MCFD2 [endoplasmic reticulum-Golgi intermediate compartment membrane] (Homo sapiens)
MCFD2 [endoplasmic reticulum-Golgi intermediate compartment membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:Q8NI22 MCFD2
Gene Names
MCFD2, SDNSF
Chain
signal peptide:1-26, chain:27-146
Reference Genes
BioGPS Gene:90411 MCFD2
COSMIC (genes):MCFD2 MCFD2
CTD Gene:90411 MCFD2
dbSNP Gene:90411 MCFD2
ENSEMBL:ENSG00000180398 MCFD2
ENSEMBL_homo_sapiens_GENE:ENSG00000180398.13 MCFD2
HGNC:18451 MCFD2
KEGG Gene (Homo sapiens):90411 MCFD2
Monarch:90411 MCFD2
NCBI Gene:90411 MCFD2
OMIM:607788 MCFD2
UCSC:Q8NI22 MCFD2
Reference Transcript
RefSeq:NM_001171506.2 MCFD2
RefSeq:NM_001171508.2 MCFD2
RefSeq:NM_001171509.2 MCFD2
RefSeq:NM_001171511.2 MCFD2
RefSeq:NM_001171507.2 MCFD2
RefSeq:NM_001171510.2 MCFD2
RefSeq:NM_139279.5 MCFD2
Other Identifiers
11717009_s_at
11717010_a_at
11745178_a_at
11748317_s_at
212245_PM_at
212245_at
212246_PM_at
212246_at
2551787
2551788
2551789
2551790
2551791
2551794
2551797
2551798
2551799
2551804
2551805
2551809
38727_at
8051998
90411
A_23_P120270
A_24_P103060
GE57876
GO:0005509
GO:0005515
GO:0005783
GO:0005789
GO:0005793
GO:0005794
GO:0012507
GO:0015031
GO:0016192
GO:0031410
GO:0033116
GO:0043226
GO:0046872
HMNXSV003030684
Hs.84775.0.S1_3p_at
Hs.84775.0.S1_3p_x_at
Hs.84775.0.S2_3p_at
ILMN_1761808
ILMN_2202790
M23161_at
PH_hs_0023555
Participates
as a component of
hexameric LMAN1:MCFD2 [endoplasmic reticulum-Golgi intermediate compartment membrane] (Homo sapiens)
Other forms of this molecule
MCFD2 [endoplasmic reticulum membrane]
MCFD2 [ER to Golgi transport vesicle membrane]
Inferred To
MCFD2 [endoplasmic reticulum-Golgi intermediate compartment membrane]
(Bos taurus)
MCFD2 [endoplasmic reticulum-Golgi intermediate compartment membrane]
(Canis familiaris)
MCFD2 [endoplasmic reticulum-Golgi intermediate compartment membrane]
(Gallus gallus)
MCFD2 [endoplasmic reticulum-Golgi intermediate compartment membrane]
(Mus musculus)
MCFD2 [endoplasmic reticulum-Golgi intermediate compartment membrane]
(Rattus norvegicus)
MCFD2 [endoplasmic reticulum-Golgi intermediate compartment membrane]
(Sus scrofa)
Cross References
RefSeq
NP_001164978.1
,
NP_001164980.1
,
NP_001164979.1
,
NP_001164982.1
,
NP_644808.1
,
NP_001164981.1
,
NP_001164977.1
OpenTargets
ENSG00000180398
GeneCards
Q8NI22
HPA
ENSG00000180398-MCFD2
Ensembl
ENSP00000386279
,
ENSP00000386941
,
ENSP00000386261
,
ENSP00000317271
,
ENSP00000387202
,
ENST00000409973
,
ENST00000409105
,
ENSG00000180398
,
ENST00000409147
,
ENSP00000402717
,
ENST00000409913
,
ENST00000412438
,
ENST00000409207
,
ENST00000319466
,
ENST00000409218
,
ENST00000409800
,
ENSP00000386386
,
ENST00000444761
,
ENSP00000394647
,
ENSP00000386651
,
ENSP00000387082
PRO
Q8NI22
Pharos - Targets
Q8NI22
Orphanet
16385
HMDB Protein
HMDBP07789
PDB
4YGD
,
4YGC
,
3WNX
,
3WHT
,
4YGB
,
3WHU
,
3LCP
,
4YGE
,
2VRG
,
3A4U
Interactors (5)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:P78382 SLC35A1
2
SLC35A1 [Golgi membrane]
(R-HSA-727812)
SLC35A1 V93Cfs*17 [Golgi membrane]
(R-HSA-5651957)
0.556
3
UniProt:P06307 CCK
1
CCK [extracellular region]
(R-HSA-388539)
0.556
3
UniProt:Q8N2H4 SYS1
1
SYS1 [trans-Golgi network membrane]
(R-HSA-6813921)
0.556
3
UniProt:Q15077 P2RY6
1
P2RY6 [plasma membrane]
(R-HSA-417924)
0.556
3
UniProt:O00767 SCD
1
SCD [endoplasmic reticulum membrane]
(R-HSA-400117)
0.556
3
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