MCFD2
entrez
90411
canonical
uniprot
Q8NI22
canonical
ensembl
ENSG00000180398
resolver
ensp
ENSP00000317271
resolver
ensp
ENSP00000386261
resolver
ensp
ENSP00000386279
resolver
ensp
ENSP00000386386
resolver
ensp
ENSP00000386941
resolver
ensp
ENSP00000387202
resolver
ensp
ENSP00000394647
resolver
genesymbol
MCFD2
resolver
genesymbol_syn
SDNSF
resolver
hgnc
HGNC:18451
resolver
uniprot
A8K7W2
resolver
uniprot
B4DF17
resolver
uniprot
D6W5A9
resolver
uniprot
E9PD95
resolver
uniprot
Q53SS3
resolver
uniprot
Q68D61
resolver
uniprot
Q8N3M5
resolver
uniprot_entry
B4DF17_HUMAN
resolver
uniprot_entry
MCFD2_HUMAN
resolver
uniprot_sec
A8K7W2
resolver
uniprot_sec
D6W5A9
resolver
uniprot_sec
E9PD95
resolver
uniprot_sec
Q53SS3
resolver
uniprot_sec
Q68D61
resolver
uniprot_sec
Q8N3M5
resolver
amino_acid_sequence
MTMRSLLRTPFLCGLLWAFCAPGARAEEPAASFSQPGSMGLDKNTVHDQEHIMEHLEGVINKPEAEMSPQELQLHYFKMHDYDGNNLLDGLELSTAITHVHKEEGSEQAPLMSEDELINIIDGVLRDDDKNNDGYIDYAEFAKSLQ
uniprot
proteins
disease_involvement
DISEASE: Factor V and factor VIII combined deficiency 2 (F5F8D2) [MIM:613625]: A blood coagulation disorder characterized by bleeding symptoms similar to those in hemophilia or parahemophilia, that are caused by single deficiency of FV or FVIII, respectively. The most common symptoms are epistaxis, menorrhagia, and excessive bleeding during or after trauma. Plasma levels of coagulation factors V and VIII are in the range of 5 to 30% of normal. {ECO:0000269|PubMed:12717434, ECO:0000269|PubMed:18590741, ECO:0000269|PubMed:18685427, ECO:0000269|PubMed:20491958}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: The MCFD2-LMAN1 complex forms a specific cargo receptor for the ER-to-Golgi transport of selected proteins. Plays a role in the secretion of coagulation factors. {ECO:0000269|PubMed:12717434}.
uniprot
proteins
mass_dalton
16390
uniprot
proteins
pubmed
12717434
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18590741
uniprot
proteins
pubmed
18685427
uniprot
proteins
pubmed
20138881
uniprot
proteins
pubmed
20142513
uniprot
proteins
pubmed
20491958
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
sequence_length
146
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum-Golgi intermediate compartment {ECO:0000269|PubMed:12717434}. Endoplasmic reticulum {ECO:0000269|PubMed:12717434}. Golgi apparatus {ECO:0000269|PubMed:12717434}.
uniprot
proteins