MCFD2

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

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

COPII vesicle coating Source: Reactome
ER to Golgi vesicle-mediated transport Source: Reactome
protein transport Source: UniProtKB-KW

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Biological process	ER-Golgi transport, Protein transport, Transport
Ligand	Calcium, Metal-binding

Enzyme and pathway databases

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

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 2 Alternative 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	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 2

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000180398.11
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:18451 MCFD2
MIMⁱ	607788 gene
neXtProtⁱ	NX_Q8NI22

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.

Keywords - Diseaseⁱ

Disease mutation

Organism-specific databases

DisGeNET More...DisGeNETⁱ	90411
MalaCards human disease database More...MalaCardsⁱ	MCFD2
MIMⁱ	613625 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000180398
Orphanetⁱ	35909 Combined deficiency of factor V and factor VIII
PharmGKBⁱ	PA134925788

Chemistry databases

Drug and drug target database More...DrugBankⁱ	DB00025 Antihemophilic Factor (Recombinant)

DrugBankⁱ

DB00025 Antihemophilic Factor (Recombinant)

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

Phosphoprotein

Proteomic databases

EPDⁱ	Q8NI22
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	Q8NI22
PaxDbⁱ	Q8NI22
PeptideAtlas More...PeptideAtlasⁱ	Q8NI22
PRIDEⁱ	Q8NI22
ProteomicsDBⁱ	73813 73814 [Q8NI22-2] 73815 [Q8NI22-3]
TopDownProteomicsⁱ	Q8NI22-1 [Q8NI22-1]

PTM databases

iPTMnetⁱ	Q8NI22
PhosphoSitePlusⁱ	Q8NI22

Expressionⁱ

Gene expression databases

Bgeeⁱ	ENSG00000180398 Expressed in 247 organ(s), highest expression level in metanephros
CleanExⁱ	HS_MCFD2
ExpressionAtlasⁱ	Q8NI22 baseline and differential
Genevisibleⁱ	Q8NI22 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	CAB022410 HPA034593

HPAⁱ

CAB022410
HPA034593

Interactionⁱ

Subunit structureⁱ

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

Binary interactionsⁱ

With	Entry	#Exp.	IntAct	Notes
LMAN1	P49257	9	EBI-2689785,EBI-1057738

With

Entry

#Exp.

IntAct

Notes

LMAN1

P49257

9

EBI-2689785,EBI-1057738

Protein-protein interaction databases

BioGridⁱ	124712, 42 interactors
Database of interacting proteins More...DIPⁱ	DIP-56233N
IntActⁱ	Q8NI22, 9 interactors
Molecular INTeraction database More...MINTⁱ	Q8NI22
STRINGⁱ	9606.ENSP00000317271

Structureⁱ

Secondary structure

Legend: HelixTurnBeta strandPDB Structure known for this area

Feature key	Position(s)	DescriptionActions	Length
Helixⁱ	70 – 78	Combined sources	9
Beta strandⁱ	85 – 89	Combined sources	5
Helixⁱ	90 – 97	Combined sources	8
Beta strandⁱ	106 – 108	Combined sources	3
Helixⁱ	114 – 128	Combined sources	15
Beta strandⁱ	133 – 137	Combined sources	5
Helixⁱ	138 – 142	Combined sources	5

Show more details

3D structure databases

ProteinModelPortalⁱ	Q8NI22
SMRⁱ	Q8NI22
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Miscellaneous databases

EvolutionaryTraceⁱ	Q8NI22

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, Signal

Phylogenomic databases

eggNOGⁱ	KOG4065 Eukaryota ENOG41124J6 LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00390000003130
HOGENOMⁱ	HOG000113497
HOVERGENⁱ	HBG060762
InParanoidⁱ	Q8NI22
KEGG Orthology (KO) More...KOⁱ	K20364
OMAⁱ	ISHVHKE
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G0ZJA
PhylomeDBⁱ	Q8NI22
TreeFamⁱ	TF315801

Family and domain databases

InterProⁱ	View protein in InterPro IPR011992 EF-hand-dom_pair IPR018247 EF_Hand_1_Ca_BS IPR002048 EF_hand_dom
Pfam protein domain database More...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

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. Align Add to basket

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

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

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

« Hide

        10         20         30         40         50
MEHLEGVINK PEAEMSPQEL QLHYFKMHDY DGNNLLDGLE LSTAITHVHK 
        60         70         80         90 
EEGSEQAPLM SEDELINIID GVLRDDDKNN DGYIDYAEFA KSLQ

Show »

Length:94

Mass (Da):10,718

Checksum:ⁱE347C6712D349696

GO

Isoform 3 (identifier: Q8NI22-3) [UniParc]FASTA Add to basket

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

« Hide

        10         20         30         40         50
MLSVCSCRTS SGMRSQWPSA RQRSSSLSTF RHIMEHLEGV INKPEAEMSP 
        60         70         80         90        100
QELQLHYFKM HDYDGNNLLD GLELSTAITH VHKEEGSEQA PLMSEDELIN 
       110        120 
IIDGVLRDDD KNNDGYIDYA EFAKSLQ

Show »

Length:127

Mass (Da):14,431

Checksum:ⁱFE9714228D2C4B0E

GO

Computationally mapped potential isoform sequencesⁱ

There are 2 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

Entry	Entry name	Protein names	Gene names	Length	Annotation

C9JTR4	C9JTR4_HUMAN	Multiple coagulation factor deficie... Multiple coagulation factor deficiency protein 2	MCFD2	61	Annotation score:
H7BZ18	H7BZ18_HUMAN	Multiple coagulation factor deficie... Multiple coagulation factor deficiency protein 2	MCFD2	90	Annotation score:

Sequence cautionⁱ

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

Natural variant

Feature key	Position(s)	DescriptionActions	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
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS33192.1 [Q8NI22-1] CCDS54354.1 [Q8NI22-2] CCDS54355.1 [Q8NI22-3]
PIRⁱ	JS0027
NCBI Reference Sequences More...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]
UniGeneⁱ	Hs.662152

Genome annotation databases

Ensemblⁱ	ENST00000319466; 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]
GeneIDⁱ	90411
KEGGⁱ	hsa:90411
UCSC genome browser More...UCSCⁱ	uc002rvk.4 human [Q8NI22-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q8NI22	Multiple coagulation factor deficiency protein 2 homolog		PONAB		146	UniRef100_Q8NI22
Multiple coagulation factor deficiency protein 2 (Fragment)		HUMAN		61
MCFD2 isoform 17 (Fragment)		PANTR		61
Multiple coagulation factor deficiency protein 2 isoform A		MACMU		146
Uncharacterized protein		COLAP		146
+15
Q8NI22-3	MCFD2 isoform 1		PANTR		127	UniRef100_A0A2I3RGX6
Multiple coagulation factor deficiency 2		SAIBB		127
Uncharacterized protein		PROCO		127
Multiple coagulation factor deficiency 2		CALJA		127
Uncharacterized protein		PANPA		127
+1

Protein	Similar proteins		Species	Score	Length	Source
Q8NI22	Multiple coagulation factor deficiency protein 2 homolog		PONAB		146	UniRef90_Q8NI22
Multiple coagulation factor deficiency protein 2 (Fragment)		HUMAN		61
MCFD2 isoform 17 (Fragment)		PANTR		61
Multiple coagulation factor deficiency protein 2 isoform A		MACMU		146
Uncharacterized protein		COLAP		146
+15
Q8NI22-3	MCFD2 isoform 1		PANTR		127	UniRef90_A0A2I3RGX6
Multiple coagulation factor deficiency 2		SAIBB		127
Uncharacterized protein		PROCO		127
Multiple coagulation factor deficiency 2		CALJA		127
Uncharacterized protein		PANPA		127
+14

Protein	Similar proteins		Species	Score	Length	Source
Q8NI22	Multiple coagulation factor deficiency protein 2 homolog		PONAB		146	UniRef50_Q8NI22
Multiple coagulation factor deficiency protein 2 (Fragment)		HUMAN		61
MCFD2 isoform 17 (Fragment)		PANTR		61
Multiple coagulation factor deficiency protein 2 isoform A		MACMU		146
Uncharacterized protein		COLAP		146
+38
Q8NI22-3	MCFD2 isoform 1		PANTR		127	UniRef50_A0A2I3RGX6
Multiple coagulation factor deficiency 2		SAIBB		127
Uncharacterized protein		PROCO		127
Multiple coagulation factor deficiency 2		CALJA		127
Uncharacterized protein		PANPA		127
+16

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]
UniGeneⁱ	Hs.662152

3D structure databases

Select the link destinations: Protein Data Bank Europe More...PDBeⁱ Protein Data Bank RCSB More...RCSB PDBⁱ Protein Data Bank Japan More...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	[»]
ProteinModelPortalⁱ	Q8NI22
SMRⁱ	Q8NI22
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	124712, 42 interactors
DIPⁱ	DIP-56233N
IntActⁱ	Q8NI22, 9 interactors
MINTⁱ	Q8NI22
STRINGⁱ	9606.ENSP00000317271

Chemistry databases

DrugBankⁱ	DB00025 Antihemophilic Factor (Recombinant)

DrugBankⁱ

DB00025 Antihemophilic Factor (Recombinant)

PTM databases

iPTMnetⁱ	Q8NI22
PhosphoSitePlusⁱ	Q8NI22

Polymorphism and mutation databases

BioMutaⁱ	MCFD2
DMDMⁱ	49036425

Proteomic databases

EPDⁱ	Q8NI22
MaxQBⁱ	Q8NI22
PaxDbⁱ	Q8NI22
PeptideAtlasⁱ	Q8NI22
PRIDEⁱ	Q8NI22
ProteomicsDBⁱ	73813 73814 [Q8NI22-2] 73815 [Q8NI22-3]
TopDownProteomicsⁱ	Q8NI22-1 [Q8NI22-1]

Protocols and materials databases

The DNASU plasmid repository More...DNASUⁱ	90411
Structural Biology Knowledgebase	Search...

Genome annotation databases

Organism-specific databases

CTDⁱ	90411
DisGeNETⁱ	90411
EuPathDBⁱ	HostDB:ENSG00000180398.11
GeneCardsⁱ	MCFD2
HGNCⁱ	HGNC:18451 MCFD2
HPAⁱ	CAB022410 HPA034593
MalaCardsⁱ	MCFD2
MIMⁱ	607788 gene 613625 phenotype
neXtProtⁱ	NX_Q8NI22
OpenTargetsⁱ	ENSG00000180398
Orphanetⁱ	35909 Combined deficiency of factor V and factor VIII
PharmGKBⁱ	PA134925788
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG4065 Eukaryota ENOG41124J6 LUCA
GeneTreeⁱ	ENSGT00390000003130
HOGENOMⁱ	HOG000113497
HOVERGENⁱ	HBG060762
InParanoidⁱ	Q8NI22
KOⁱ	K20364
OMAⁱ	ISHVHKE
OrthoDBⁱ	EOG091G0ZJA
PhylomeDBⁱ	Q8NI22
TreeFamⁱ	TF315801

Enzyme and pathway databases

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

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

ChiTaRSⁱ	MCFD2 human
EvolutionaryTraceⁱ	Q8NI22
GeneWikiⁱ	MCFD2
GenomeRNAiⁱ	90411
Protein Ontology More...PROⁱ	PR:Q8NI22
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000180398 Expressed in 247 organ(s), highest expression level in metanephros
CleanExⁱ	HS_MCFD2
ExpressionAtlasⁱ	Q8NI22 baseline and differential
Genevisibleⁱ	Q8NI22 HS

Family and domain databases

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...

Entry informationⁱ

Entry nameⁱ	MCFD2_HUMAN
Accessionⁱ	Q8NI22Primary (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:	September 12, 2018
	This is version 143 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, Complete proteome, Reference proteome

Documents

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
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

UniProtKB

UniParc

Help

UniRef

Proteomes

Annotation systems

Supporting data

UniProtKB - Q8NI22 (MCFD2_HUMAN)

Your basket is currently empty. i <p>When browsing through different UniProt proteins, you can use the ‘basket’ to save them, so that you can back to find or analyse them later.<p><a href='/help/basket' target='_top'>More...</a></p>

Multiple coagulation factor deficiency protein 2

Select a section on the left to see content.

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Regions

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Endoplasmic reticulum

Golgi apparatus

Other locations

Endoplasmic reticulum

Golgi apparatus

Other locations

Keywords - Cellular componenti

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Keywords - Diseasei

Organism-specific databases

Chemistry databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Amino acid modifications

Keywords - PTMi

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

3D structure databases

Miscellaneous databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Keywords - Domaini

Phylogenomic databases

Family and domain databases

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

Natural variant

Alternative sequence

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

3D structure databases

Protein-protein interaction databases

Chemistry databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Documents

UniProt is an ELIXIR core data resource

Your basket is currently empty. ⁱ

Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Keywords - Domainⁱ

Sequence cautionⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ