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Protein

Multiple coagulation factor deficiency protein 2

Gene

MCFD2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

Complete GO annotation...

Keywords - Biological processi

ER-Golgi transport, Protein transport, Transport

Keywords - Ligandi

Calcium, Metal-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000180398-MONOMER.
ReactomeiR-HSA-204005. COPII (Coat Protein 2) 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

HGNCiHGNC:18451. MCFD2.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Golgi apparatus

Pathology & Biotechi

Involvement in diseasei

Factor V and factor VIII combined deficiency 2 (F5F8D2)3 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 rs78289603dbSNPEnsembl.1
Natural variantiVAR_019076129D → E in F5F8D2; interferes with protein folding. 2 PublicationsCorresponds to variant rs28942113dbSNPEnsembl.1
Natural variantiVAR_072246135Y → N in F5F8D2. 1 PublicationCorresponds to variant rs748641905dbSNPEnsembl.1
Natural variantiVAR_019077136I → T in F5F8D2; interferes with protein folding. 2 PublicationsCorresponds to variant rs28942114dbSNPEnsembl.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.
TopDownProteomicsiQ8NI22-1. [Q8NI22-1]

PTM databases

iPTMnetiQ8NI22.
PhosphoSitePlusiQ8NI22.

Expressioni

Gene expression databases

BgeeiENSG00000180398.
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

Protein-protein interaction databases

BioGridi124712. 42 interactors.
DIPiDIP-56233N.
IntActiQ8NI22. 3 interactors.
MINTiMINT-4829508.
STRINGi9606.ENSP00000317271.

Structurei

Secondary structure

1146
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi70 – 78Combined sources9
Beta strandi85 – 89Combined sources5
Helixi90 – 97Combined sources8
Beta strandi106 – 108Combined sources3
Helixi114 – 128Combined sources15
Beta strandi133 – 137Combined sources5
Helixi138 – 142Combined sources5

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...

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

Sequence similaritiesi

Contains 2 EF-hand domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Signal

Phylogenomic databases

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

Family and domain databases

Gene3Di1.10.238.10. 1 hit.
InterProiIPR011992. EF-hand-dom_pair.
IPR018247. EF_Hand_1_Ca_BS.
IPR002048. EF_hand_dom.
[Graphical view]
PfamiPF13499. EF-hand_7. 1 hit.
[Graphical view]
SUPFAMiSSF47473. SSF47473. 1 hit.
PROSITEiPS00018. EF_HAND_1. 2 hits.
PS50222. EF_HAND_2. 2 hits.
[Graphical view]

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

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

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 rs78289603dbSNPEnsembl.1
Natural variantiVAR_019076129D → E in F5F8D2; interferes with protein folding. 2 PublicationsCorresponds to variant rs28942113dbSNPEnsembl.1
Natural variantiVAR_072246135Y → N in F5F8D2. 1 PublicationCorresponds to variant rs748641905dbSNPEnsembl.1
Natural variantiVAR_019077136I → T in F5F8D2; interferes with protein folding. 2 PublicationsCorresponds to variant rs28942114dbSNPEnsembl.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

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. 3 interactors.
MINTiMINT-4829508.
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.
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.
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

BioCyciZFISH:ENSG00000180398-MONOMER.
ReactomeiR-HSA-204005. COPII (Coat Protein 2) 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.
PROiQ8NI22.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000180398.
CleanExiHS_MCFD2.
ExpressionAtlasiQ8NI22. baseline and differential.
GenevisibleiQ8NI22. HS.

Family and domain databases

Gene3Di1.10.238.10. 1 hit.
InterProiIPR011992. EF-hand-dom_pair.
IPR018247. EF_Hand_1_Ca_BS.
IPR002048. EF_hand_dom.
[Graphical view]
PfamiPF13499. EF-hand_7. 1 hit.
[Graphical view]
SUPFAMiSSF47473. SSF47473. 1 hit.
PROSITEiPS00018. EF_HAND_1. 2 hits.
PS50222. EF_HAND_2. 2 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiMCFD2_HUMAN
AccessioniPrimary (citable) accession number: Q8NI22
Secondary accession number(s): A8K7W2
, D6W5A9, E9PD95, Q53SS3, Q68D61, Q8N3M5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 21, 2004
Last sequence update: October 1, 2002
Last modified: November 2, 2016
This is version 130 of the entry and version 1 of the sequence. [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
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.