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Protein

Multiple coagulation factor deficiency protein 2

Gene

MCFD2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Calcium bindingi81 – 921Add BLAST12
Calcium bindingi129 – 1402Add BLAST12

GO - Molecular functioni

GO - Biological processi

Keywordsi

Biological processER-Golgi transport, Protein transport, Transport
LigandCalcium, Metal-binding

Enzyme and pathway databases

ReactomeiR-HSA-204005 COPII-mediated vesicle transport
R-HSA-5694530 Cargo concentration in the ER
R-HSA-948021 Transport to the Golgi and subsequent modification

Names & Taxonomyi

Protein namesi
Recommended name:
Multiple coagulation factor deficiency protein 2
Alternative name(s):
Neural stem cell-derived neuronal survival protein
Gene namesi
Name:MCFD2
Synonyms:SDNSF
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000180398.11
HGNCiHGNC:18451 MCFD2
MIMi607788 gene
neXtProtiNX_Q8NI22

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Endoplasmic reticulum, Golgi apparatus

Pathology & Biotechi

Involvement in diseasei

Factor V and factor VIII combined deficiency 2 (F5F8D2)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:613625
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07224581D → H in F5F8D2. 1 PublicationCorresponds to variant dbSNP:rs78289603Ensembl.1
Natural variantiVAR_019076129D → E in F5F8D2; interferes with protein folding. 2 PublicationsCorresponds to variant dbSNP:rs137852913EnsemblClinVar.1
Natural variantiVAR_072246135Y → N in F5F8D2. 1 PublicationCorresponds to variant dbSNP:rs748641905Ensembl.1
Natural variantiVAR_019077136I → T in F5F8D2; interferes with protein folding. 2 PublicationsCorresponds to variant dbSNP:rs137852914EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi90411
MalaCardsiMCFD2
MIMi613625 phenotype
OpenTargetsiENSG00000180398
Orphaneti35909 Combined deficiency of factor V and factor VIII
PharmGKBiPA134925788

Chemistry databases

DrugBankiDB00025 Antihemophilic Factor (Recombinant)

Polymorphism and mutation databases

BioMutaiMCFD2
DMDMi49036425

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 26Sequence analysisAdd BLAST26
ChainiPRO_000000415927 – 146Multiple coagulation factor deficiency protein 2Add BLAST120

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei106PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ8NI22
MaxQBiQ8NI22
PaxDbiQ8NI22
PeptideAtlasiQ8NI22
PRIDEiQ8NI22
ProteomicsDBi73813
73814 [Q8NI22-2]
73815 [Q8NI22-3]
TopDownProteomicsiQ8NI22-1 [Q8NI22-1]

PTM databases

iPTMnetiQ8NI22
PhosphoSitePlusiQ8NI22

Expressioni

Gene expression databases

BgeeiENSG00000180398 Expressed in 247 organ(s), highest expression level in metanephros
CleanExiHS_MCFD2
ExpressionAtlasiQ8NI22 baseline and differential
GenevisibleiQ8NI22 HS

Organism-specific databases

HPAiCAB022410
HPA034593

Interactioni

Subunit structurei

Interacts in a calcium-dependent manner with LMAN1.3 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
LMAN1P492579EBI-2689785,EBI-1057738

Protein-protein interaction databases

BioGridi124712, 42 interactors
DIPiDIP-56233N
IntActiQ8NI22, 9 interactors
MINTiQ8NI22
STRINGi9606.ENSP00000317271

Structurei

Secondary structure

1146
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ8NI22
SMRiQ8NI22
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ8NI22

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini68 – 103EF-hand 1PROSITE-ProRule annotationAdd BLAST36
Domaini116 – 146EF-hand 2PROSITE-ProRule annotationAdd BLAST31

Domaini

Essentially unstructured in the absence of calcium ions. Requires calcium ions for folding.1 Publication

Keywords - Domaini

Repeat, Signal

Phylogenomic databases

eggNOGiKOG4065 Eukaryota
ENOG41124J6 LUCA
GeneTreeiENSGT00390000003130
HOGENOMiHOG000113497
HOVERGENiHBG060762
InParanoidiQ8NI22
KOiK20364
OMAiISHVHKE
OrthoDBiEOG091G0ZJA
PhylomeDBiQ8NI22
TreeFamiTF315801

Family and domain databases

InterProiView protein in InterPro
IPR011992 EF-hand-dom_pair
IPR018247 EF_Hand_1_Ca_BS
IPR002048 EF_hand_dom
PfamiView protein in Pfam
PF13499 EF-hand_7, 1 hit
SUPFAMiSSF47473 SSF47473, 1 hit
PROSITEiView protein in PROSITE
PS00018 EF_HAND_1, 2 hits
PS50222 EF_HAND_2, 2 hits

Sequences (3+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8NI22-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MTMRSLLRTP FLCGLLWAFC APGARAEEPA ASFSQPGSMG LDKNTVHDQE
60 70 80 90 100
HIMEHLEGVI NKPEAEMSPQ ELQLHYFKMH DYDGNNLLDG LELSTAITHV
110 120 130 140
HKEEGSEQAP LMSEDELINI IDGVLRDDDK NNDGYIDYAE FAKSLQ
Length:146
Mass (Da):16,390
Last modified:October 1, 2002 - v1
Checksum:iEF3F3B28E5C7A8A8
GO
Isoform 2 (identifier: Q8NI22-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-52: Missing.

Show »
Length:94
Mass (Da):10,718
Checksum:iE347C6712D349696
GO
Isoform 3 (identifier: Q8NI22-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-50: MTMRSLLRTP...LDKNTVHDQE → MLSVCSCRTSSGMRSQWPSARQRSSSLSTFR

Show »
Length:127
Mass (Da):14,431
Checksum:iFE9714228D2C4B0E
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JTR4C9JTR4_HUMAN
Multiple coagulation factor deficie...
MCFD2
61Annotation score:
H7BZ18H7BZ18_HUMAN
Multiple coagulation factor deficie...
MCFD2
90Annotation score:

Sequence cautioni

The sequence CAD38756 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07224581D → H in F5F8D2. 1 PublicationCorresponds to variant dbSNP:rs78289603Ensembl.1
Natural variantiVAR_019076129D → E in F5F8D2; interferes with protein folding. 2 PublicationsCorresponds to variant dbSNP:rs137852913EnsemblClinVar.1
Natural variantiVAR_072246135Y → N in F5F8D2. 1 PublicationCorresponds to variant dbSNP:rs748641905Ensembl.1
Natural variantiVAR_019077136I → T in F5F8D2; interferes with protein folding. 2 PublicationsCorresponds to variant dbSNP:rs137852914EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0438151 – 52Missing in isoform 2. 2 PublicationsAdd BLAST52
Alternative sequenceiVSP_0438141 – 50MTMRS…VHDQE → MLSVCSCRTSSGMRSQWPSA RQRSSSLSTFR in isoform 3. CuratedAdd BLAST50

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF475284 mRNA Translation: AAM28465.1
AF537214 mRNA Translation: AAP23162.1
AK292127 mRNA Translation: BAF84816.1
AL833900 mRNA Translation: CAD38756.1 Different initiation.
CR749562 mRNA Translation: CAH18359.1
AC016722 Genomic DNA Translation: AAY15013.1
AC093732 Genomic DNA No translation available.
CH471053 Genomic DNA Translation: EAX00230.1
CH471053 Genomic DNA Translation: EAX00231.1
CH471053 Genomic DNA Translation: EAX00232.1
CH471053 Genomic DNA Translation: EAX00233.1
BC037845 mRNA Translation: AAH37845.1
BC040357 mRNA Translation: AAH40357.1
CCDSiCCDS33192.1 [Q8NI22-1]
CCDS54354.1 [Q8NI22-2]
CCDS54355.1 [Q8NI22-3]
PIRiJS0027
RefSeqiNP_001164977.1, NM_001171506.2 [Q8NI22-1]
NP_001164978.1, NM_001171507.2 [Q8NI22-1]
NP_001164979.1, NM_001171508.2 [Q8NI22-1]
NP_001164980.1, NM_001171509.2 [Q8NI22-2]
NP_001164981.1, NM_001171510.2 [Q8NI22-2]
NP_001164982.1, NM_001171511.2 [Q8NI22-3]
NP_644808.1, NM_139279.5 [Q8NI22-1]
UniGeneiHs.662152

Genome annotation databases

EnsembliENST00000319466; ENSP00000317271; ENSG00000180398 [Q8NI22-1]
ENST00000409105; ENSP00000386651; ENSG00000180398 [Q8NI22-1]
ENST00000409147; ENSP00000387082; ENSG00000180398 [Q8NI22-2]
ENST00000409207; ENSP00000386386; ENSG00000180398 [Q8NI22-1]
ENST00000409218; ENSP00000386261; ENSG00000180398 [Q8NI22-1]
ENST00000409800; ENSP00000387202; ENSG00000180398 [Q8NI22-2]
ENST00000409913; ENSP00000386941; ENSG00000180398 [Q8NI22-2]
ENST00000409973; ENSP00000386279; ENSG00000180398 [Q8NI22-1]
ENST00000412438; ENSP00000402717; ENSG00000180398 [Q8NI22-1]
ENST00000444761; ENSP00000394647; ENSG00000180398 [Q8NI22-3]
GeneIDi90411
KEGGihsa:90411
UCSCiuc002rvk.4 human [Q8NI22-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF475284 mRNA Translation: AAM28465.1
AF537214 mRNA Translation: AAP23162.1
AK292127 mRNA Translation: BAF84816.1
AL833900 mRNA Translation: CAD38756.1 Different initiation.
CR749562 mRNA Translation: CAH18359.1
AC016722 Genomic DNA Translation: AAY15013.1
AC093732 Genomic DNA No translation available.
CH471053 Genomic DNA Translation: EAX00230.1
CH471053 Genomic DNA Translation: EAX00231.1
CH471053 Genomic DNA Translation: EAX00232.1
CH471053 Genomic DNA Translation: EAX00233.1
BC037845 mRNA Translation: AAH37845.1
BC040357 mRNA Translation: AAH40357.1
CCDSiCCDS33192.1 [Q8NI22-1]
CCDS54354.1 [Q8NI22-2]
CCDS54355.1 [Q8NI22-3]
PIRiJS0027
RefSeqiNP_001164977.1, NM_001171506.2 [Q8NI22-1]
NP_001164978.1, NM_001171507.2 [Q8NI22-1]
NP_001164979.1, NM_001171508.2 [Q8NI22-1]
NP_001164980.1, NM_001171509.2 [Q8NI22-2]
NP_001164981.1, NM_001171510.2 [Q8NI22-2]
NP_001164982.1, NM_001171511.2 [Q8NI22-3]
NP_644808.1, NM_139279.5 [Q8NI22-1]
UniGeneiHs.662152

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2VRGNMR-A27-146[»]
3A4UX-ray1.84B27-146[»]
3LCPX-ray2.45C/D58-146[»]
3WHTX-ray1.80B67-146[»]
3WHUX-ray2.60B67-146[»]
3WNXX-ray2.75B67-146[»]
4YGBX-ray1.60B/D67-146[»]
4YGCX-ray2.40B/D/F/H67-146[»]
4YGDX-ray2.51B/D/F/H67-146[»]
4YGEX-ray3.05B/D/F27-146[»]
ProteinModelPortaliQ8NI22
SMRiQ8NI22
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124712, 42 interactors
DIPiDIP-56233N
IntActiQ8NI22, 9 interactors
MINTiQ8NI22
STRINGi9606.ENSP00000317271

Chemistry databases

DrugBankiDB00025 Antihemophilic Factor (Recombinant)

PTM databases

iPTMnetiQ8NI22
PhosphoSitePlusiQ8NI22

Polymorphism and mutation databases

BioMutaiMCFD2
DMDMi49036425

Proteomic databases

EPDiQ8NI22
MaxQBiQ8NI22
PaxDbiQ8NI22
PeptideAtlasiQ8NI22
PRIDEiQ8NI22
ProteomicsDBi73813
73814 [Q8NI22-2]
73815 [Q8NI22-3]
TopDownProteomicsiQ8NI22-1 [Q8NI22-1]

Protocols and materials databases

DNASUi90411
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000319466; ENSP00000317271; ENSG00000180398 [Q8NI22-1]
ENST00000409105; ENSP00000386651; ENSG00000180398 [Q8NI22-1]
ENST00000409147; ENSP00000387082; ENSG00000180398 [Q8NI22-2]
ENST00000409207; ENSP00000386386; ENSG00000180398 [Q8NI22-1]
ENST00000409218; ENSP00000386261; ENSG00000180398 [Q8NI22-1]
ENST00000409800; ENSP00000387202; ENSG00000180398 [Q8NI22-2]
ENST00000409913; ENSP00000386941; ENSG00000180398 [Q8NI22-2]
ENST00000409973; ENSP00000386279; ENSG00000180398 [Q8NI22-1]
ENST00000412438; ENSP00000402717; ENSG00000180398 [Q8NI22-1]
ENST00000444761; ENSP00000394647; ENSG00000180398 [Q8NI22-3]
GeneIDi90411
KEGGihsa:90411
UCSCiuc002rvk.4 human [Q8NI22-1]

Organism-specific databases

CTDi90411
DisGeNETi90411
EuPathDBiHostDB:ENSG00000180398.11
GeneCardsiMCFD2
HGNCiHGNC:18451 MCFD2
HPAiCAB022410
HPA034593
MalaCardsiMCFD2
MIMi607788 gene
613625 phenotype
neXtProtiNX_Q8NI22
OpenTargetsiENSG00000180398
Orphaneti35909 Combined deficiency of factor V and factor VIII
PharmGKBiPA134925788
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4065 Eukaryota
ENOG41124J6 LUCA
GeneTreeiENSGT00390000003130
HOGENOMiHOG000113497
HOVERGENiHBG060762
InParanoidiQ8NI22
KOiK20364
OMAiISHVHKE
OrthoDBiEOG091G0ZJA
PhylomeDBiQ8NI22
TreeFamiTF315801

Enzyme and pathway databases

ReactomeiR-HSA-204005 COPII-mediated vesicle transport
R-HSA-5694530 Cargo concentration in the ER
R-HSA-948021 Transport to the Golgi and subsequent modification

Miscellaneous databases

ChiTaRSiMCFD2 human
EvolutionaryTraceiQ8NI22
GeneWikiiMCFD2
GenomeRNAii90411
PROiPR:Q8NI22
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000180398 Expressed in 247 organ(s), highest expression level in metanephros
CleanExiHS_MCFD2
ExpressionAtlasiQ8NI22 baseline and differential
GenevisibleiQ8NI22 HS

Family and domain databases

InterProiView protein in InterPro
IPR011992 EF-hand-dom_pair
IPR018247 EF_Hand_1_Ca_BS
IPR002048 EF_hand_dom
PfamiView protein in Pfam
PF13499 EF-hand_7, 1 hit
SUPFAMiSSF47473 SSF47473, 1 hit
PROSITEiView protein in PROSITE
PS00018 EF_HAND_1, 2 hits
PS50222 EF_HAND_2, 2 hits
ProtoNetiSearch...

Entry informationi

Entry nameiMCFD2_HUMAN
AccessioniPrimary (citable) accession number: Q8NI22
Secondary accession number(s): A8K7W2
, D6W5A9, E9PD95, Q53SS3, Q68D61, Q8N3M5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 21, 2004
Last sequence update: October 1, 2002
Last modified: September 12, 2018
This is version 143 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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