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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
  • Multiple Coagulation Factor Deficiency Protein 2 3
  • 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, 2 and Factor Viii Deficiency. Among its related pathways are Metabolism of proteins and Transport to the Golgi and subsequent modification. Gene Ontology (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

Additional gene information for MCFD2 Gene

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

Genomics for MCFD2 Gene

GeneHancer (GH) Regulatory Elements for MCFD2 Gene

Promoters and enhancers for MCFD2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02I046939 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 595.2 -0.7 -720 6.9 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 E2F8 ZNF263 MCFD2 TTC7A ENSG00000225187 ENSG00000228925 ENSG00000272814
GH02I046913 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 583.5 +26.6 26633 4 HDGF PKNOX1 CLOCK FOXA2 SMAD1 MLX ARNT ZFP64 ARID4B SIN3A MCFD2 GC02P046913 TTC7A ENSG00000228925
GH02I046909 Promoter/Enhancer 1.6 EPDnew FANTOM5 ENCODE 612.9 +31.8 31848 2 HDGF ARID4B KLF17 SIN3A FEZF1 BATF IRF4 THRB RARA ZNF366 MCFD2 ENSG00000226548 LINC01119 TTC7A RHOQ GC02P046913 PIR31573
GH02I046977 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 21.2 -42.1 -42075 13 HDGF PKNOX1 CLOCK ARID4B SIN3A IRF4 YY1 ZNF143 FOS KLF13 TTC7A MCFD2 ENSG00000233845 CALM2 ENSG00000228925 RHOQ GC02M046968
GH02I046963 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 20.1 -26.3 -26260 9 FOXA2 MLX ZFP64 ARID4B NEUROD1 SIN3A DMAP1 YY1 SLC30A9 FOS TTC7A MCFD2 CALM2 MSH6 ENSG00000228925 RHOQ GC02M046968 PIR42793
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MCFD2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MCFD2 gene promoter:

Genomic Locations for MCFD2 Gene

Genomic Locations for MCFD2 Gene
chr2:46,901,870-46,941,855
(GRCh38/hg38)
Size:
39,986 bases
Orientation:
Minus strand
chr2:47,129,009-47,168,994
(GRCh37/hg19)

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

Post-translational modifications for MCFD2 Gene

No data available for DME Specific Peptides for MCFD2 Gene

Domains & Families for MCFD2 Gene

Gene Families for MCFD2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

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.
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 From GWAS Catalog for MCFD2 Gene

Gene Ontology (GO) - Molecular Function for MCFD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 20138881
GO:0046872 metal 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

Human Phenotype Ontology for MCFD2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for MCFD2 Gene

miRTarBase miRNAs that target MCFD2

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MCFD2 gene
Compartment Confidence
endoplasmic reticulum 5
golgi apparatus 3
mitochondrion 2
extracellular 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for MCFD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005793 endoplasmic reticulum-Golgi intermediate compartment IEA --
GO:0005794 Golgi apparatus IEA --
genes like me logo Genes that share ontologies with MCFD2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MCFD2 Gene

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:0006810 transport IEA --
GO:0006888 ER to Golgi vesicle-mediated transport TAS --
GO:0015031 protein transport IEA --
GO:0016192 vesicle-mediated transport IEA --
GO:0018279 protein N-linked glycosylation via asparagine 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, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Antihemophilic factor, human recombinant Approved, Investigational Pharma Target, modulator 0
calcium Approved 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:

CRISPR Products

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for MCFD2 Gene



NURSA nuclear receptor signaling pathways regulating expression of MCFD2 Gene:

MCFD2

SOURCE GeneReport for Unigene cluster for MCFD2 Gene:

Hs.662152

Evidence on tissue expression from TISSUES for MCFD2 Gene

  • Nervous system(4.9)
  • Liver(4.4)
  • Heart(4.3)
  • Skin(4.2)
  • Adrenal gland(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MCFD2 Gene

Germ Layers:
  • mesoderm
Systems:
  • cardiovascular
  • reproductive
Organs:
Head and neck:
  • face
  • head
  • nose
Pelvis:
  • uterus
General:
  • blood
  • blood vessel
  • coagulation system
genes like me logo Genes that share expression patterns with MCFD2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners 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 33 34
  • 99.77 (n)
dog
(Canis familiaris)
Mammalia MCFD2 33 34
  • 93.52 (n)
cow
(Bos Taurus)
Mammalia MCFD2 33 34
  • 91.14 (n)
mouse
(Mus musculus)
Mammalia Mcfd2 33 16 34
  • 81.38 (n)
rat
(Rattus norvegicus)
Mammalia Mcfd2 33
  • 81.15 (n)
oppossum
(Monodelphis domestica)
Mammalia MCFD2 34
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves MCFD2 33 34
  • 72.95 (n)
lizard
(Anolis carolinensis)
Reptilia MCFD2 34
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mcfd2 33
  • 63.38 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.14697 33
zebrafish
(Danio rerio)
Actinopterygii mcfd2 33 34
  • 66.42 (n)
-- 33
fruit fly
(Drosophila melanogaster)
Insecta CG17271 34
  • 17 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F55A11.1 33 34
  • 54.45 (n)
T04F3.4 34
  • 32 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 31 (a)
OneToOne
Species where no ortholog for MCFD2 was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs1051317 likely-benign, Combined deficiency of factor V and factor VIII, 1 46,903,009(-) G/T 3_prime_UTR_variant
rs111535939 likely-benign, Combined deficiency of factor V and factor VIII, 1 46,904,117(-) C/A 3_prime_UTR_variant
rs111603188 likely-benign, Combined deficiency of factor V and factor VIII, 1 46,904,421(-) G/A 3_prime_UTR_variant
rs114662283 uncertain-significance, Combined deficiency of factor V and factor VIII, 1 46,904,420(-) C/T 3_prime_UTR_variant
rs115043642 uncertain-significance, Combined deficiency of factor V and factor VIII, 1 46,903,675(-) G/A 3_prime_UTR_variant

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

Variant ID Type Subtype PubMed ID
dgv696e199 CNV deletion 23128226
esv2677617 CNV deletion 23128226
esv3590617 CNV loss 21293372
esv3590618 CNV loss 21293372
esv3590619 CNV loss 21293372
nsv1004828 CNV gain 25217958
nsv1071991 CNV deletion 25765185
nsv457352 CNV loss 19166990
nsv524970 CNV loss 19592680
nsv581749 CNV loss 21841781

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)

Additional Variant Information for MCFD2 Gene

Human Gene Mutation Database (HGMD)
MCFD2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MCFD2

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

Disorders for MCFD2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
factor v and factor viii, combined deficiency of, 2
  • f5f8d2
factor viii deficiency
  • autosomal hemophilia a
coumarin resistance
  • coumarin, poor metabolism of
hemophilia
  • hemophilia, familial
- 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:18590741, ECO:0000269 PubMed:18685427, ECO:0000269 PubMed:20491958}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for MCFD2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (Nature genetics 2003) 2 3 4 22 58
  2. 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 letters 2010) 3 4 22 58
  3. Genotype-phenotype correlation in combined deficiency of factor V and factor VIII. (PMID: 18391077) Zhang B … Ginsburg D (Blood 2008) 3 22 44 58
  4. New insights into multiple coagulation factor deficiency from the solution structure of human MCFD2. (PMID: 18590741) Guy JE … Lindqvist Y (Journal of molecular biology 2008) 3 4 22 58
  5. 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 coagulation & fibrinolysis : an international journal in haemostasis and thrombosis 2008) 3 4 22 58

Products for MCFD2 Gene

Sources for MCFD2 Gene

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