Reactome | MCFD2 [endoplasmic reticulum-Golgi intermediate compartment membrane]

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

HGNC:18451 MCFD2

KEGG Gene (Homo sapiens):90411 MCFD2

Monarch:90411 MCFD2

NCBI Gene:90411 MCFD2

OMIM:607788 MCFD2

UCSC:Q8NI22 MCFD2

Reference Transcript

Other Identifiers

0003140368

11717009_s_at

11717010_a_at

11745178_a_at

11748317_s_at

212245_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:0000139

GO:0003674

GO:0005509

GO:0005515

GO:0005575

GO:0005622

GO:0005737

GO:0005783

GO:0005789

GO:0005793

GO:0005794

GO:0006464

GO:0006810

GO:0006888

GO:0008150

GO:0009058

GO:0012507

GO:0015031

GO:0016192

GO:0018279

GO:0022607

GO:0031410

GO:0033116

GO:0043167

GO:0043226

GO:0046872

GO:0048208

GO:0061024

GO:0065003

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

Participant Of

hasComponent

hexameric LMAN1:MCFD2 [endoplasmic reticulum-Golgi intermediate compartment membrane]

Other forms of this molecule

MCFD2 [ER to Golgi transport vesicle membrane]

MCFD2 [endoplasmic reticulum 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] (Sus scrofa)

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] (Danio rerio)

Cross References

RefSeq

NP_001164980.1, NP_644808.1, NP_001164982.1, NP_001164977.1, NP_001164979.1, NP_001164981.1, NP_001164978.1

OpenTargets

ENSG00000180398

GeneCards

Q8NI22

HPA

ENSG00000180398-MCFD2

Ensembl

ENSP00000317271, ENSP00000387082, ENSP00000386386, ENST00000444761, ENSP00000386651, ENSP00000387202, ENST00000319466, ENSP00000386261, ENSP00000386279, ENSP00000386941, ENST00000409973, ENST00000409147, ENSG00000180398, ENST00000409105, ENST00000412438, ENST00000409218, ENSP00000402717, ENST00000409913, ENST00000409207, ENST00000409800, ENSP00000394647

PRO

Q8NI22

Orphanet

16385

HMDB Protein

HMDBP07789

PDB

2VRG, 3WNX, 4YGC, 4YGE, 3WHU, 3LCP, 3A4U, 4YGD, 3WHT, 4YGB

Interactors (4)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:Q8N2H4 SYS1	1	SYS1 [trans-Golgi network membrane] (R-HSA-6813921)	0.556	3
UniProt:P78382 SLC35A1	2	SLC35A1 V93Cfs*17 [Golgi membrane] (R-HSA-5651957) SLC35A1 [Golgi membrane] (R-HSA-727812)	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