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Aliases for MCFD2 Gene

Aliases for MCFD2 Gene

  • Multiple Coagulation Factor Deficiency 2 2 3
  • Neural Stem Cell-Derived Neuronal Survival Protein 3 4
  • F5F8D2 3 6
  • SDNSF 3 4
  • Multiple Coagulation Factor Deficiency Protein 2 3
  • LMAN1IP 3
  • F5F8D 3

External Ids for MCFD2 Gene

Summaries for MCFD2 Gene

Entrez Gene Summary for MCFD2 Gene

  • This gene encodes a soluble luminal protein with two calmodulin-like EF-hand motifs at its C-terminus. This protein forms a complex with LAMN1 (lectin mannose binding protein 1; also known as ERGIC-53) that facilitates the transport of coagulation factors V (FV) and VIII (FVIII) from the endoplasmic reticulum to the Golgi apparatus via an endoplasmic reticulum Golgi intermediate compartment (ERGIC). Mutations in this gene cause combined deficiency of FV and FVIII (F5F8D); a rare autosomal recessive bleeding disorder characterized by mild to moderate bleeding and coordinate reduction in plasma FV and FVIII levels. This protein has also been shown to maintain stem cell potential in adult central nervous system and is a marker for testicular germ cell tumors. The 3' UTR of this gene contains a transposon-like human repeat element named 'THE 1'. A processed RNA pseudogene of this gene is on chromosome 6p22.1. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jun 2010]

GeneCards Summary for MCFD2 Gene

MCFD2 (Multiple Coagulation Factor Deficiency 2) is a Protein Coding gene. Diseases associated with MCFD2 include factor v and factor viii, combined deficiency of and combined factor v and viii deficiency. Among its related pathways are Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein and Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein. GO annotations related to this gene include calcium ion binding.

UniProtKB/Swiss-Prot for MCFD2 Gene

  • 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.

Gene Wiki entry for MCFD2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MCFD2 Gene

Genomics for MCFD2 Gene

Genomic Location for MCFD2 Gene

Start:
46,901,870 bp from pter
End:
46,941,855 bp from pter
Size:
39,986 bases
Orientation:
Minus strand

Genomic View for MCFD2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MCFD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MCFD2 Gene

Regulatory Elements for MCFD2 Gene

Proteins for MCFD2 Gene

  • Protein details for MCFD2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NI22-MCFD2_HUMAN
    Recommended name:
    Multiple coagulation factor deficiency protein 2
    Protein Accession:
    Q8NI22
    Secondary Accessions:
    • A8K7W2
    • D6W5A9
    • E9PD95
    • Q53SS3
    • Q68D61
    • Q8N3M5

    Protein attributes for MCFD2 Gene

    Size:
    146 amino acids
    Molecular mass:
    16390 Da
    Quaternary structure:
    • Interacts in a calcium-dependent manner with LMAN1.
    SequenceCaution:
    • Sequence=CAD38756.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MCFD2 Gene

    Alternative splice isoforms for MCFD2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MCFD2 Gene

Proteomics data for MCFD2 Gene at MOPED

Post-translational modifications for MCFD2 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys143
  • Glycosylation at Ser94, Thr95, and Thr98

No data available for DME Specific Peptides for MCFD2 Gene

Domains for MCFD2 Gene

Gene Families for MCFD2 Gene

HGNC:
  • EFHAND :EF-hand domain containing

Protein Domains for MCFD2 Gene

Suggested Antigen Peptide Sequences for MCFD2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8NI22

UniProtKB/Swiss-Prot:

MCFD2_HUMAN
Domain:
  • Essentially unstructured in the absence of calcium ions. Requires calcium ions for folding.:
    • Q8NI22
  • Contains 2 EF-hand domains.:
    • Q8NI22
genes like me logo Genes that share domains with MCFD2: view

Function for MCFD2 Gene

Molecular function for MCFD2 Gene

UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for MCFD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
genes like me logo Genes that share ontologies with MCFD2: view

Phenotypes for MCFD2 Gene

GenomeRNAi human phenotypes for MCFD2:
genes like me logo Genes that share phenotypes with MCFD2: view

miRNA for MCFD2 Gene

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for MCFD2 Gene

Localization for MCFD2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MCFD2 Gene

Endoplasmic reticulum-Golgi intermediate compartment. Endoplasmic reticulum. Golgi apparatus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MCFD2 Gene COMPARTMENTS Subcellular localization image for MCFD2 gene
Compartment Confidence
endoplasmic reticulum 5
golgi apparatus 5
mitochondrion 2
extracellular 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for MCFD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005793 endoplasmic reticulum-Golgi intermediate compartment IEA --
GO:0005794 Golgi apparatus IEA --
GO:0012507 ER to Golgi transport vesicle membrane TAS --
genes like me logo Genes that share ontologies with MCFD2: view

Pathways for MCFD2 Gene

genes like me logo Genes that share pathways with MCFD2: view

Gene Ontology (GO) - Biological Process for MCFD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015031 protein transport IEA --
GO:0016192 vesicle-mediated transport IEA --
GO:0018279 protein N-linked glycosylation via asparagine TAS --
GO:0043687 post-translational protein modification TAS --
GO:0044267 cellular protein metabolic process TAS --
genes like me logo Genes that share ontologies with MCFD2: view

Compounds for MCFD2 Gene

(1) HMDB Compounds for MCFD2 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2

(1) Drugbank Compounds for MCFD2 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Antihemophilic Factor
  • AHF
target modulator

(1) Novoseek inferred chemical compound relationships for MCFD2 Gene

Compound -log(P) Hits PubMed IDs
warfarin 34 2
genes like me logo Genes that share compounds with MCFD2: view

Transcripts for MCFD2 Gene

Unigene Clusters for MCFD2 Gene

Multiple coagulation factor deficiency 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MCFD2 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b · 7c · 7d
SP1: - - - -
SP2: - -
SP3: - - - - - - - -
SP4: - - - - -
SP5: - - - - - - - - -
SP6: - - - - - -
SP7: - - - -
SP8: -
SP9: - - - - - - - -

Relevant External Links for MCFD2 Gene

GeneLoc Exon Structure for
MCFD2
ECgene alternative splicing isoforms for
MCFD2

Expression for MCFD2 Gene

mRNA expression in normal human tissues for MCFD2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for MCFD2 Gene

SOURCE GeneReport for Unigene cluster for MCFD2 Gene Hs.662152

genes like me logo Genes that share expressions with MCFD2: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for MCFD2 Gene

Orthologs for MCFD2 Gene

This gene was present in the common ancestor of animals.

Orthologs for MCFD2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MCFD2 35
  • 99.77 (n)
  • 100 (a)
MCFD2 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MCFD2 35
  • 91.14 (n)
  • 93.01 (a)
MCFD2 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MCFD2 35
  • 93.52 (n)
  • 93.06 (a)
MCFD2 36
  • 79 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mcfd2 35
  • 81.38 (n)
  • 82.76 (a)
Mcfd2 16
Mcfd2 36
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MCFD2 36
  • 66 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mcfd2 35
  • 81.15 (n)
  • 85.52 (a)
chicken
(Gallus gallus)
Aves MCFD2 35
  • 72.95 (n)
  • 73.19 (a)
MCFD2 36
  • 69 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MCFD2 36
  • 58 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.14697 35
tropical clawed frog
(Silurana tropicalis)
Amphibia mcfd2 35
  • 63.38 (n)
  • 60.56 (a)
zebrafish
(Danio rerio)
Actinopterygii -- 35
mcfd2 35
  • 66.42 (n)
  • 63.97 (a)
mcfd2 36
  • 56 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG17271 36
  • 17 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F55A11.1 35
  • 54.45 (n)
  • 48.85 (a)
F55A11.1 36
  • 29 (a)
OneToMany
T04F3.4 36
  • 32 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 31 (a)
OneToOne
Species with no ortholog for MCFD2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MCFD2 Gene

ENSEMBL:
Gene Tree for MCFD2 (if available)
TreeFam:
Gene Tree for MCFD2 (if available)

Paralogs for MCFD2 Gene

Pseudogenes.org Pseudogenes for MCFD2 Gene

genes like me logo Genes that share paralogs with MCFD2: view

No data available for Paralogs for MCFD2 Gene

Variants for MCFD2 Gene

Sequence variations from dbSNP and Humsavar for MCFD2 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs8861 -- 46,902,145(+) ATCCA(A/G)TAAAC utr-variant-3-prime
rs1051317 -- 46,903,009(-) CAAAC(A/C)ATATC utr-variant-3-prime
rs1051328 -- 46,902,252(-) GATTC(C/T)TTTCA utr-variant-3-prime
rs1345129 -- 46,901,409(-) TACCC(C/T)TCTGG downstream-variant-500B
rs1345130 -- 46,901,407(-) CCCCT(C/T)TGGAT downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for MCFD2 Gene

Variant ID Type Subtype PubMed ID
nsv457352 CNV Loss 19166990
esv2677617 CNV Deletion 23128226
dgv696e199 CNV Deletion 23128226
nsv524970 CNV Loss 19592680

Relevant External Links for MCFD2 Gene

HapMap Linkage Disequilibrium report
MCFD2
Human Gene Mutation Database (HGMD)
MCFD2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MCFD2 Gene

Disorders for MCFD2 Gene

(1) OMIM Diseases for MCFD2 Gene (607788)

UniProtKB/Swiss-Prot

MCFD2_HUMAN
  • 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:18685427, ECO:0000269 PubMed:20491958}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for MCFD2 Gene

(4) Novoseek inferred disease relationships for MCFD2 Gene

Disease -log(P) Hits PubMed IDs
f5f8d 99.3 25
coagulation factor deficiency 95.2 8
warfarin resistance 84.5 2
coagulopathy 70.4 6

Relevant External Links for MCFD2

Genetic Association Database (GAD)
MCFD2
Human Genome Epidemiology (HuGE) Navigator
MCFD2
genes like me logo Genes that share disorders with MCFD2: view

Publications for MCFD2 Gene

  1. Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complex. (PMID: 12717434) Zhang B. … Ginsburg D. (Nat. Genet. 2003) 2 3 4 23
  2. Genotype-phenotype correlation in combined deficiency of factor V and factor VIII. (PMID: 18391077) Zhang B. … Ginsburg D. (Blood 2008) 3 23 48
  3. New insights into multiple coagulation factor deficiency from the solution structure of human MCFD2. (PMID: 18590741) Guy J.E. … Lindqvist Y. (J. Mol. Biol. 2008) 3 4 23
  4. The first case of combined coagulation factor V and coagulation factor VIII deficiency in Poland due to a novel p.Tyr135Asn missense mutation in the MCFD2 gene. (PMID: 18685427) Ivaskevicius V. … Oldenburg J. (Blood Coagul. Fibrinolysis 2008) 3 4 23
  5. Crystal structure of the LMAN1-CRD/MCFD2 transport receptor complex provides insight into combined deficiency of factor V and factor VIII. (PMID: 20138881) Wigren E. … Lindqvist Y. (FEBS Lett. 2010) 3 4 23

Products for MCFD2 Gene

Sources for MCFD2 Gene

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