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Aliases for MCFD2 Gene

Aliases for MCFD2 Gene

  • Multiple Coagulation Factor Deficiency 2 2 3 5
  • Neural Stem Cell-Derived Neuronal Survival Protein 3 4
  • SDNSF 3 4
  • LMAN1IP 3
  • F5F8D2 3
  • F5F8D 3

External Ids for MCFD2 Gene

Previous GeneCards Identifiers for MCFD2 Gene

  • GC02M047086
  • GC02M047103
  • GC02M047040
  • GC02M047129
  • GC02M046867

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 LMAN1 (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, Apr 2016]

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 factor viii deficiency. Among its related pathways are Transport to the Golgi and subsequent modification and Vesicle-mediated transport. 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

Regulatory Elements for MCFD2 Gene

Promoters for MCFD2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MCFD2 on UCSC Golden Path with GeneCards custom track

Genomic Location for MCFD2 Gene

Chromosome:
2
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

Genes around MCFD2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MCFD2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MCFD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Antibody Products

No data available for DME Specific Peptides for MCFD2 Gene

Domains & Families for MCFD2 Gene

Gene Families for MCFD2 Gene

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 :
  • Essentially unstructured in the absence of calcium ions. Requires calcium ions for folding.
Domain:
  • Essentially unstructured in the absence of calcium ions. Requires calcium ions for folding.
  • Contains 2 EF-hand domains.
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.

Phenotypes for MCFD2 Gene

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

Human Phenotype Ontology for MCFD2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for MCFD2 Gene

miRTarBase miRNAs that target MCFD2

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets 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:0005789 endoplasmic reticulum membrane TAS --
GO:0033116 endoplasmic reticulum-Golgi intermediate compartment membrane TAS --
genes like me logo Genes that share ontologies with MCFD2: view

Pathways & Interactions 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:0018279 protein N-linked glycosylation via asparagine TAS --
GO:0043687 post-translational protein modification TAS --
GO:0048208 COPII vesicle coating TAS --
genes like me logo Genes that share ontologies with MCFD2: view

No data available for SIGNOR curated interactions for MCFD2 Gene

Drugs & Compounds for MCFD2 Gene

(3) Drugs for MCFD2 Gene - From: DrugBank, Novoseek, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Antihemophilic Factor Approved, Investigational Pharma Target, modulator 0
calcium Nutra 0
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

Protein differential expression in normal tissues from HIPED for MCFD2 Gene

This gene is overexpressed in Skin (16.9) and Salivary gland (10.6).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with MCFD2: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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
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
chimpanzee
(Pan troglodytes)
Mammalia MCFD2 35
  • 99.77 (n)
  • 100 (a)
MCFD2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mcfd2 35
  • 81.15 (n)
  • 85.52 (a)
oppossum
(Monodelphis domestica)
Mammalia MCFD2 36
  • 66 (a)
OneToOne
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
tropical clawed frog
(Silurana tropicalis)
Amphibia mcfd2 35
  • 63.38 (n)
  • 60.56 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.14697 35
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
VAR_019076 Factor V and factor VIII combined deficiency 2 (F5F8D2)
VAR_019077 Factor V and factor VIII combined deficiency 2 (F5F8D2)
VAR_072245 Factor V and factor VIII combined deficiency 2 (F5F8D2)
VAR_072246 Factor V and factor VIII combined deficiency 2 (F5F8D2)
rs8861 -- 46,902,145(+) ATCCA(A/G)TAAAC utr-variant-3-prime

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

Variation tolerance for MCFD2 Gene

Residual Variation Intolerance Score: 37.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.60; 12.92% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(6) MalaCards diseases for MCFD2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
factor v and factor viii, combined deficiency of
  • combined deficiency of factor v and factor viii
factor viii deficiency
  • hemophilia a
combined factor v and viii deficiency
  • factor v and factor viii, combined deficiency of
coumarin resistance
  • warfarin sensitivity
hemophilia
  • hemophilia a
- elite association - COSMIC cancer census association via MalaCards
Search MCFD2 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for MCFD2

Genetic Association Database (GAD)
MCFD2
Human Genome Epidemiology (HuGE) Navigator
MCFD2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MCFD2
genes like me logo Genes that share disorders with MCFD2: view

No data available for Genatlas for MCFD2 Gene

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 67
  2. EF-hand domains of MCFD2 mediate interactions with both LMAN1 and coagulation factor V or VIII. (PMID: 20007547) Zheng C. … Zhang B. (Blood 2010) 3 23
  3. 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 23
  4. The sugar-binding ability of ERGIC-53 is enhanced by its interaction with MCFD2. (PMID: 18056485) Kawasaki N. … Yamamoto K. (Blood 2008) 3 23
  5. Genotype-phenotype correlation in combined deficiency of factor V and factor VIII. (PMID: 18391077) Zhang B. … Ginsburg D. (Blood 2008) 3 23

Products for MCFD2 Gene

Sources for MCFD2 Gene

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