UniProtKB - Q8NI22 (MCFD2_HUMAN)
Protein
Multiple coagulation factor deficiency protein 2
Gene
MCFD2
Organism
Homo sapiens (Human)
Status
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 key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Calcium bindingi | 81 – 92 | 1Add BLAST | 12 | |
Calcium bindingi | 129 – 140 | 2Add BLAST | 12 |
GO - Molecular functioni
- calcium ion binding Source: InterPro
GO - Biological processi
- COPII vesicle coating Source: Reactome
- endoplasmic reticulum to Golgi vesicle-mediated transport Source: Reactome
- protein N-linked glycosylation via asparagine Source: Reactome
- protein transport Source: UniProtKB-KW
Keywordsi
Biological process | ER-Golgi transport, Protein transport, Transport |
Ligand | Calcium, Metal-binding |
Enzyme and pathway databases
PathwayCommonsi | Q8NI22 |
Reactomei | R-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 2Alternative name(s): Neural stem cell-derived neuronal survival protein |
Gene namesi | Name:MCFD2 Synonyms:SDNSF |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000180398.11 |
HGNCi | HGNC:18451, MCFD2 |
MIMi | 607788, gene |
neXtProti | NX_Q8NI22 |
Subcellular locationi
Endoplasmic reticulum
- Endoplasmic reticulum 1 Publication
Golgi apparatus
- Golgi apparatus 1 Publication
Other locations
- Endoplasmic reticulum-Golgi intermediate compartment 1 Publication
Endoplasmic reticulum
- endoplasmic reticulum membrane Source: Reactome
Golgi apparatus
- Golgi membrane Source: GOC
Other locations
- endoplasmic reticulum-Golgi intermediate compartment membrane Source: Reactome
- ER to Golgi transport vesicle membrane Source: Reactome
Keywords - Cellular componenti
Endoplasmic reticulum, Golgi apparatusPathology & 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_072245 | 81 | D → H in F5F8D2. 1 PublicationCorresponds to variant dbSNP:rs78289603Ensembl. | 1 | |
Natural variantiVAR_019076 | 129 | D → E in F5F8D2; interferes with protein folding. 2 PublicationsCorresponds to variant dbSNP:rs137852913EnsemblClinVar. | 1 | |
Natural variantiVAR_072246 | 135 | Y → N in F5F8D2. 1 PublicationCorresponds to variant dbSNP:rs748641905Ensembl. | 1 | |
Natural variantiVAR_019077 | 136 | I → T in F5F8D2; interferes with protein folding. 2 PublicationsCorresponds to variant dbSNP:rs137852914EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease mutationOrganism-specific databases
DisGeNETi | 90411 |
MalaCardsi | MCFD2 |
MIMi | 613625, phenotype |
OpenTargetsi | ENSG00000180398 |
Orphaneti | 35909, Combined deficiency of factor V and factor VIII |
PharmGKBi | PA134925788 |
Miscellaneous databases
Pharosi | Q8NI22, Tbio |
Chemistry databases
DrugBanki | DB00025, Antihemophilic factor, human recombinant DB13998, Lonoctocog alfa DB13999, Moroctocog alfa |
Polymorphism and mutation databases
BioMutai | MCFD2 |
DMDMi | 49036425 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 26 | Sequence analysisAdd BLAST | 26 | |
ChainiPRO_0000004159 | 27 – 146 | Multiple coagulation factor deficiency protein 2Add BLAST | 120 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 106 | PhosphoserineBy similarity | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q8NI22 |
jPOSTi | Q8NI22 |
MassIVEi | Q8NI22 |
MaxQBi | Q8NI22 |
PaxDbi | Q8NI22 |
PeptideAtlasi | Q8NI22 |
PRIDEi | Q8NI22 |
ProteomicsDBi | 73813 [Q8NI22-1] 73814 [Q8NI22-2] 73815 [Q8NI22-3] |
TopDownProteomicsi | Q8NI22-1 [Q8NI22-1] |
PTM databases
GlyGeni | Q8NI22, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | Q8NI22 |
PhosphoSitePlusi | Q8NI22 |
Expressioni
Gene expression databases
Bgeei | ENSG00000180398, Expressed in metanephros and 258 other tissues |
ExpressionAtlasi | Q8NI22, baseline and differential |
Genevisiblei | Q8NI22, HS |
Organism-specific databases
HPAi | ENSG00000180398, Low tissue specificity |
Interactioni
Subunit structurei
Interacts in a calcium-dependent manner with LMAN1.
3 PublicationsBinary interactionsi
Hide detailsQ8NI22
Protein-protein interaction databases
BioGRIDi | 124712, 67 interactors |
DIPi | DIP-56233N |
IntActi | Q8NI22, 11 interactors |
MINTi | Q8NI22 |
STRINGi | 9606.ENSP00000386651 |
Miscellaneous databases
RNActi | Q8NI22, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
BMRBi | Q8NI22 |
SMRi | Q8NI22 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q8NI22 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 68 – 103 | EF-hand 1PROSITE-ProRule annotationAdd BLAST | 36 | |
Domaini | 116 – 146 | EF-hand 2PROSITE-ProRule annotationAdd BLAST | 31 |
Domaini
Essentially unstructured in the absence of calcium ions. Requires calcium ions for folding.1 Publication
Keywords - Domaini
Repeat, SignalPhylogenomic databases
eggNOGi | KOG4065, Eukaryota |
GeneTreei | ENSGT00940000154141 |
HOGENOMi | CLU_100744_2_0_1 |
InParanoidi | Q8NI22 |
OMAi | LDRNMVQ |
OrthoDBi | 1601131at2759 |
PhylomeDBi | Q8NI22 |
TreeFami | TF315801 |
Family and domain databases
DisProti | DP01637 |
InterProi | View protein in InterPro IPR011992, EF-hand-dom_pair IPR018247, EF_Hand_1_Ca_BS IPR002048, EF_hand_dom |
Pfami | View protein in Pfam PF13499, EF-hand_7, 1 hit |
SUPFAMi | SSF47473, SSF47473, 1 hit |
PROSITEi | View protein in PROSITE PS00018, EF_HAND_1, 2 hits PS50222, EF_HAND_2, 2 hits |
s (3+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 3 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 sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A3B3IU18 | A0A3B3IU18_HUMAN | Multiple coagulation factor deficie... | MCFD2 | 109 | Annotation score: | ||
C9JTR4 | C9JTR4_HUMAN | Multiple coagulation factor deficie... | MCFD2 | 61 | Annotation score: | ||
H7BZ18 | H7BZ18_HUMAN | Multiple coagulation factor deficie... | MCFD2 | 90 | Annotation score: |
Sequence cautioni
The sequence CAD38756 differs from that shown. Reason: Erroneous initiation.Curated
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_072245 | 81 | D → H in F5F8D2. 1 PublicationCorresponds to variant dbSNP:rs78289603Ensembl. | 1 | |
Natural variantiVAR_019076 | 129 | D → E in F5F8D2; interferes with protein folding. 2 PublicationsCorresponds to variant dbSNP:rs137852913EnsemblClinVar. | 1 | |
Natural variantiVAR_072246 | 135 | Y → N in F5F8D2. 1 PublicationCorresponds to variant dbSNP:rs748641905Ensembl. | 1 | |
Natural variantiVAR_019077 | 136 | I → T in F5F8D2; interferes with protein folding. 2 PublicationsCorresponds to variant dbSNP:rs137852914EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_043815 | 1 – 52 | Missing in isoform 2. 2 PublicationsAdd BLAST | 52 | |
Alternative sequenceiVSP_043814 | 1 – 50 | MTMRS…VHDQE → MLSVCSCRTSSGMRSQWPSA RQRSSSLSTFR in isoform 3. CuratedAdd BLAST | 50 |
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 |
CCDSi | CCDS33192.1 [Q8NI22-1] CCDS54354.1 [Q8NI22-2] CCDS54355.1 [Q8NI22-3] |
PIRi | JS0027 |
RefSeqi | NP_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] |
Genome annotation databases
Keywords - Coding sequence diversityi
Alternative splicingSimilar 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 |
CCDSi | CCDS33192.1 [Q8NI22-1] CCDS54354.1 [Q8NI22-2] CCDS54355.1 [Q8NI22-3] |
PIRi | JS0027 |
RefSeqi | NP_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] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2VRG | NMR | - | A | 27-146 | [»] | |
3A4U | X-ray | 1.84 | B | 27-146 | [»] | |
3LCP | X-ray | 2.45 | C/D | 58-146 | [»] | |
3WHT | X-ray | 1.80 | B | 67-146 | [»] | |
3WHU | X-ray | 2.60 | B | 67-146 | [»] | |
3WNX | X-ray | 2.75 | B | 67-146 | [»] | |
4YGB | X-ray | 1.60 | B/D | 67-146 | [»] | |
4YGC | X-ray | 2.40 | B/D/F/H | 67-146 | [»] | |
4YGD | X-ray | 2.51 | B/D/F/H | 67-146 | [»] | |
4YGE | X-ray | 3.05 | B/D/F | 27-146 | [»] | |
BMRBi | Q8NI22 | |||||
SMRi | Q8NI22 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 124712, 67 interactors |
DIPi | DIP-56233N |
IntActi | Q8NI22, 11 interactors |
MINTi | Q8NI22 |
STRINGi | 9606.ENSP00000386651 |
Chemistry databases
DrugBanki | DB00025, Antihemophilic factor, human recombinant DB13998, Lonoctocog alfa DB13999, Moroctocog alfa |
PTM databases
GlyGeni | Q8NI22, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | Q8NI22 |
PhosphoSitePlusi | Q8NI22 |
Polymorphism and mutation databases
BioMutai | MCFD2 |
DMDMi | 49036425 |
Proteomic databases
EPDi | Q8NI22 |
jPOSTi | Q8NI22 |
MassIVEi | Q8NI22 |
MaxQBi | Q8NI22 |
PaxDbi | Q8NI22 |
PeptideAtlasi | Q8NI22 |
PRIDEi | Q8NI22 |
ProteomicsDBi | 73813 [Q8NI22-1] 73814 [Q8NI22-2] 73815 [Q8NI22-3] |
TopDownProteomicsi | Q8NI22-1 [Q8NI22-1] |
Protocols and materials databases
Antibodypediai | 29996, 178 antibodies |
DNASUi | 90411 |
Genome annotation databases
Organism-specific databases
CTDi | 90411 |
DisGeNETi | 90411 |
EuPathDBi | HostDB:ENSG00000180398.11 |
GeneCardsi | MCFD2 |
HGNCi | HGNC:18451, MCFD2 |
HPAi | ENSG00000180398, Low tissue specificity |
MalaCardsi | MCFD2 |
MIMi | 607788, gene 613625, phenotype |
neXtProti | NX_Q8NI22 |
OpenTargetsi | ENSG00000180398 |
Orphaneti | 35909, Combined deficiency of factor V and factor VIII |
PharmGKBi | PA134925788 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG4065, Eukaryota |
GeneTreei | ENSGT00940000154141 |
HOGENOMi | CLU_100744_2_0_1 |
InParanoidi | Q8NI22 |
OMAi | LDRNMVQ |
OrthoDBi | 1601131at2759 |
PhylomeDBi | Q8NI22 |
TreeFami | TF315801 |
Enzyme and pathway databases
PathwayCommonsi | Q8NI22 |
Reactomei | R-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
BioGRID-ORCSi | 90411, 4 hits in 840 CRISPR screens |
ChiTaRSi | MCFD2, human |
EvolutionaryTracei | Q8NI22 |
GeneWikii | MCFD2 |
GenomeRNAii | 90411 |
Pharosi | Q8NI22, Tbio |
PROi | PR:Q8NI22 |
RNActi | Q8NI22, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000180398, Expressed in metanephros and 258 other tissues |
ExpressionAtlasi | Q8NI22, baseline and differential |
Genevisiblei | Q8NI22, HS |
Family and domain databases
DisProti | DP01637 |
InterProi | View protein in InterPro IPR011992, EF-hand-dom_pair IPR018247, EF_Hand_1_Ca_BS IPR002048, EF_hand_dom |
Pfami | View protein in Pfam PF13499, EF-hand_7, 1 hit |
SUPFAMi | SSF47473, SSF47473, 1 hit |
PROSITEi | View protein in PROSITE PS00018, EF_HAND_1, 2 hits PS50222, EF_HAND_2, 2 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | MCFD2_HUMAN | |
Accessioni | Q8NI22Primary (citable) accession number: Q8NI22 Secondary accession number(s): A8K7W2 Q8N3M5 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | June 21, 2004 |
Last sequence update: | October 1, 2002 | |
Last modified: | December 2, 2020 | |
This is version 158 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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, Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - Human chromosome 2
Human chromosome 2: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations