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MCFD2 Gene

protein-coding   GIFtS: 67
GCID: GC02M047129

Multiple Coagulation Factor Deficiency 2

  See MCFD2-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Multiple Coagulation Factor Deficiency 21 2     F5F8D2
Neural Stem Cell-Derived Neuronal Survival Protein2 3     LMAN1IP2
SDNSF2 3     Multiple Coagulation Factor Deficiency Protein 22
F5F8D22 5     

External Ids:    HGNC: 184511   Entrez Gene: 904112   Ensembl: ENSG000001803987   OMIM: 6077885   UniProtKB: Q8NI223   

Export aliases for MCFD2 gene to outside databases

Previous GC identifers: GC02M047086 GC02M047103 GC02M047040 GC02M046867


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include calcium ion binding.

UniProtKB/Swiss-Prot: MCFD2_HUMAN, Q8NI22
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 Wiki entry for MCFD2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NC_018913.2  NT_022184.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the MCFD2 gene promoter:
         GR   Bach2   GCNF   HNF-3beta   SRY   GCNF-1   GR-alpha   GCNF-2   Pax-4a   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMCFD2 promoter sequence
   Search Chromatin IP Primers for MCFD2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MCFD2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2p21   Ensembl cytogenetic band:  2p21   HGNC cytogenetic band: 2p21

MCFD2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MCFD2 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M047129:  view genomic region     (about GC identifiers)

Start:
47,129,009 bp from pter      End:
47,168,994 bp from pter
Size:
39,986 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: MCFD2_HUMAN, Q8NI22 (See protein sequence)
Recommended Name: Multiple coagulation factor deficiency protein 2 precursor  
Size: 146 amino acids; 16390 Da
Subunit: Interacts in a calcium-dependent manner with LMAN1
Sequence caution: Sequence=CAD38756.1; Type=Erroneous initiation;
6 PDB 3D structures from and Proteopedia for MCFD2:
2VRG (3D)        3A4U (3D)        3LCP (3D)        3WHT (3D)        3WHU (3D)        3WNX (3D)    
Secondary accessions: A8K7W2 D6W5A9 E9PD95 Q53SS3 Q68D61 Q8N3M5
Alternative splicing: 3 isoforms:  Q8NI22-1   Q8NI22-2   Q8NI22-3   

Explore the universe of human proteins at neXtProt for MCFD2: NX_Q8NI22

Explore proteomics data for MCFD2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys143
  • Glycosylation2 at Ser94, Thr95, Thr98
  • Modification sites at PhosphoSitePlus

  • See MCFD2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (7 alternative transcripts): 
    NP_001164977.1  NP_001164978.1  NP_001164979.1  NP_001164980.1  NP_001164981.1  NP_001164982.1  NP_644808.1  

    ENSEMBL proteins: 
     ENSP00000386651   ENSP00000386941   ENSP00000317271   ENSP00000387202   ENSP00000386386  
     ENSP00000386279   ENSP00000387082   ENSP00000386261   ENSP00000402717   ENSP00000387360  
     ENSP00000387541   ENSP00000394647  
    Reactome Protein details: Q8NI22

    MCFD2 Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for MCFD2

     
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for MCFD2
    Cloud-Clone Corp. CLIAs for MCFD2
    Search eBioscience for ELISAs for MCFD2 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    EFHAND: EF-hand domain containing

    3 InterPro protein domains:
     IPR011992 EF-hand-dom_pair
     IPR002048 EF_hand_dom
     IPR018247 EF_Hand_1_Ca_BS

    Graphical View of Domain Structure for InterPro Entry Q8NI22

    ProtoNet protein and cluster: Q8NI22

    UniProtKB/Swiss-Prot: MCFD2_HUMAN, Q8NI22
    Domain: Essentially unstructured in the absence of calcium ions. Requires calcium ions for folding
    Similarity: Contains 2 EF-hand domains


    Find genes that share domains with MCFD2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MCFD2_HUMAN, Q8NI22
    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): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--
         
    Find genes that share ontologies with MCFD2           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for MCFD2:
     Increased G1 DNA content 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MCFD2
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MCFD2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MCFD2

    miRNA
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    miRTarBase miRNAs that target MCFD2:
    hsa-mir-30b-5p (MIRT046152), hsa-mir-421 (MIRT039421), hsa-mir-23b-3p (MIRT023482), hsa-mir-191-5p (MIRT045792), hsa-mir-142-3p (MIRT021603)

    Block miRNA regulation of human, mouse, rat MCFD2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MCFD2 (see all 60):
    hsa-miR-4307 hsa-miR-607 hsa-miR-4328 hsa-miR-3664-5p hsa-miR-429 hsa-miR-199a-3p hsa-miR-16-1* hsa-miR-374a
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    GenScript: all cDNA clones in your preferred vector (see all 7): MCFD2 (NM_139279)
    Sino Biological Human cDNA Clone for MCFD2
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MCFD2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MCFD2

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MCFD2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MCFD2_HUMAN, Q8NI22: Endoplasmic reticulum-Golgi intermediate compartment. Endoplasmic reticulum. Golgi apparatus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    golgi apparatus5
    mitochondrion2
    extracellular1
    peroxisome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum IEA--
    GO:0005793endoplasmic reticulum-Golgi intermediate compartment IEA--
    GO:0005794Golgi apparatus IEA--
    GO:0012507ER to Golgi transport vesicle membrane TAS--

    Find genes that share ontologies with MCFD2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for MCFD2 About    
    See pathways by source

    SuperPathContained pathways About
    1Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Asparagine N-linked glycosylation0.49
    Transport to the Golgi and subsequent modification0.40
    Post-translational protein modification0.43
    Metabolism of proteins0.30


    Find genes that share SuperPaths with MCFD2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for MCFD2
        Transport to the Golgi and subsequent modification


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MCFD2
    Interactions:

        GeneGlobe Interaction Network for MCFD2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    Selected Interacting proteins for MCFD2 (Q8NI222, 3 ENSP000003172714) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000206289P287023I2D: score=1 
    ENSG00000227322P287023I2D: score=1 
    ENSG00000228333P287023I2D: score=1 
    ENSG00000231321P287023I2D: score=1 
    ENSG00000235712P287023I2D: score=1 
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0015031protein transport IEA--
    GO:0016192vesicle-mediated transport IEA--
    GO:0018279protein N-linked glycosylation via asparagine TAS--
    GO:0043687post-translational protein modification TAS--
    GO:0044267cellular protein metabolic process TAS--

    Find genes that share ontologies with MCFD2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MCFD2

    1 HMDB Compound for MCFD2    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    1 DrugBank Compound for MCFD2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Antihemophilic FactorAHF (see all 3)--targetmodulator17139284 17016423 15886209

    1 Novoseek inferred chemical compound relationship for MCFD2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    warfarin 34 2 14765194 (1), 16270630 (1)



    Find genes that share compounds with MCFD2           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for MCFD2 gene (7 alternative transcripts): 
    NM_001171506.2  NM_001171507.2  NM_001171508.2  NM_001171509.2  NM_001171510.2  NM_001171511.2  NM_139279.5  

    Unigene Cluster for MCFD2:

    Multiple coagulation factor deficiency 2
    Hs.662152  [show with all ESTs]
    Unigene Representative Sequence: NM_001171508
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000409105 ENST00000409913 ENST00000319466(uc021vgz.1 uc002rvk.3 uc002rvl.3 uc021vha.1)
    ENST00000409800(uc021vhb.1) ENST00000493804 ENST00000409207 ENST00000470873
    ENST00000409973 ENST00000409147 ENST00000409218 ENST00000412438 ENST00000434262
    ENST00000477791 ENST00000479225 ENST00000417180 ENST00000487121 ENST00000444761(uc010fba.3 uc010yof.2)

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate MCFD2 (see all 60):
    hsa-miR-4307 hsa-miR-607 hsa-miR-4328 hsa-miR-3664-5p hsa-miR-429 hsa-miR-199a-3p hsa-miR-16-1* hsa-miR-374a
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    Additional mRNA sequence: 

    AF475284.1 AF537214.1 AK095006.1 AK292127.1 AK293889.1 AL833900.1 BC037845.1 BC040357.2 
    CR749562.1 M23161.1 

    21 DOTS entries:

    DT.453181  DT.100685152  DT.95103334  DT.120932672  DT.97817439  DT.120932833  DT.100822677  DT.97771040 
    DT.120932799  DT.92046159  DT.100029291  DT.120932754  DT.92439120  DT.95222486  DT.100822674  DT.102820047 
    DT.102820048  DT.120932803  DT.100725728  DT.102820049  DT.95256030 

    Selected AceView cDNA sequences (see all 354):

    BU681606 BU580362 BM503776 BQ013616 BU158582 BQ575115 BX405614 BI850722 
    BU580817 BX957067 AA343789 AA938337 CA431290 AL833900 AA832207 F06028 
    AA496800 BG572582 BG031427 AW118544 AU123619 AA425583 AW338270 NM_139279 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for MCFD2 (see all 9)    About this scheme

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


    ECgene alternative splicing isoforms for MCFD2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MCFD2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GATTCTTTTC
    MCFD2 Expression
    About this image


    MCFD2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 10) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Pancreas (Endocrine System)
             Islets of Langerhans
    MCFD2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MCFD2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.662152
        Custom PCR Arrays for MCFD2
    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat MCFD2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MCFD2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for MCFD2 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mcfd21 , 5 multiple coagulation factor deficiency 21, 5 81.38(n)1
    82.76(a)1
      17 (57.06 cM)5
    1938131  NM_176808.51  NP_789778.11 
     872546585 
    chicken
    (Gallus gallus)
    Aves MCFD21 multiple coagulation factor deficiency 2 72.95(n)
    73.19(a)
      421413  NM_001006400.1  NP_001006400.1 
    lizard
    (Anolis carolinensis)
    Reptilia MCFD26
    multiple coagulation factor deficiency 2
    58(a)
    1 ↔ 1
    2(143099205-143105918)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.146972 Xenopus laevis transcribed sequence with moderate similarity more 75.21(n)    BX849881.1 
    zebrafish
    (Danio rerio)
    Actinopterygii 570578042   -- 76.81(n)   321433  57057804 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG172716
    --
    17(a)
    1 ↔ 1
    3R(16644849-16647587)
    worm
    (Caenorhabditis elegans)
    Secernentea F55A11.11 F55A11.1 54.45(n)
    48.85(a)
      179610  NM_073566.3  NP_505967.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MCFD2 gene

    Find genes that share paralogs with MCFD2           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for MCFD2
    PGOHUM00000243529


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MCFD2 (see all 874)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289421141,2,4
    Factor V and factor VIII combined deficiency 2 (F5F8D2)4--see VAR_0190772 mis40--------
    rs289421131,2,4
    Factor V and factor VIII combined deficiency 2 (F5F8D2)4--see VAR_0190762 mis40--------
    rs782896031,2
    Cpathogenic147001865(-) TGCATC/G/TATTAT 14 D Y mis10--------
    rs556549641,2
    C,F--46995365(+) GCCAAC/AAACTG 7 -- ds50014Minor allele frequency- A:0.20WA NA 242
    rs13451301,2
    H--46995396(-) CCCCTC/TTGGAT 7 -- ds50014Minor allele frequency- T:0.00NS EA 420
    rs101999651,2
    C,F,A,H--46995453(+) GGGTAC/GGGAGG 7 -- ds500110Minor allele frequency- G:0.13NS EA NA WA 782
    rs803098831,2
    C,F--46995454(+) GGTACG/AGAGGG 7 -- ds50011Minor allele frequency- A:0.06WA 118
    rs75588511,2
    C,F,A,H--46995553(+) TTTTCA/GATAAT 7 -- ds500138Minor allele frequency- N:0.00EA NA NS WA CSA 3419
    rs1432133981,2
    C--46995581(+) CAGTCA/GCCAGA 7 -- ds50010--------
    rs170358781,2
    C,F,H--46995688(+) AAATGC/GCTAAA 7 -- ds50019Minor allele frequency- G:0.04NA NS EA WA 798

    HapMap Linkage Disequilibrium report for MCFD2 (47129009 - 47168994 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for MCFD2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2677617CNV Deletion23128226
    dgv696e199CNV Deletion23128226
    nsv524970CNV Loss19592680
    nsv457352CNV Loss19166990

    Human Gene Mutation Database (HGMD): MCFD2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MCFD2
    DNA2.0 Custom Variant and Variant Library Synthesis for MCFD2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 607788   
    OMIM disorders: 613625  
    UniProtKB/Swiss-Prot: MCFD2_HUMAN, Q8NI22
  • 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 6 diseases for MCFD2:    
    About MalaCards
    factor v and factor viii, combined deficiency of    combined factor v and viii deficiency    warfarin resistance    factor viii deficiency
    paratyphoid fever    germ cell tumors

    2 diseases from the University of Copenhagen DISEASES database for MCFD2:
    Factor VIII deficiency     Paratyphoid fever

    Find genes that share disorders with MCFD2           About GenesLikeMe

    4 Novoseek inferred disease relationships for MCFD2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    f5f8d 99.3 33 12717434 (4), 18056485 (3), 16304051 (3), 17610559 (3) (see all 14)
    coagulation factor deficiency 95.2 13 18590741 (2), 17010120 (1), 17956257 (1), 14765194 (1) (see all 7)
    warfarin resistance 84.5 2 14765194 (1), 16270630 (1)
    coagulopathy 70.4 8 19598067 (1), 18056485 (1), 20007547 (1), 15166951 (1) (see all 6)

    Genetic Association Database (GAD): MCFD2
    Human Genome Epidemiology (HuGE) Navigator: MCFD2 (2 documents)

    Export disorders for MCFD2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for MCFD2 gene, integrated from 10 sources (see all 49):
    (articles sorted by number of sources associating them with MCFD2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complex. (PubMed id 12717434)1, 2, 3, 9 Zhang B.... Ginsburg D. (Nat. Genet. 2003)
    2. New insights into multiple coagulation factor deficiency from the solution structure of human MCFD2. (PubMed id 18590741)1, 2, 9 Guy J.E.... Lindqvist Y. (J. Mol. Biol. 2008)
    3. Crystal structure of the LMAN1-CRD/MCFD2 transport receptor complex provides insight into combined deficiency of factor V and factor VIII. (PubMed id 20138881)1, 2, 9 Wigren E.... Lindqvist Y. (FEBS Lett. 2010)
    4. Genotype-phenotype correlation in combined deficiency of factor V and factor VIII. (PubMed id 18391077)1, 4, 9 Zhang B....Ginsburg D. (Blood 2008)
    5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W.... Wilson R.K. (Nature 2005)
    6. LMAN1 and MCFD2 form a cargo receptor complex and interact with coagulation factor VIII in the early secretory pathway. (PubMed id 15886209)1, 7 Zhang B....Ginsburg D. (J. Biol. Chem. 2005)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. Repetitive nucleotide sequence insertions into a novel calmodulin-related gene and its processed pseudogene. (PubMed id 2463956)1, 3 Deka N....Schmid C.W. (Gene 1988)
    10. EF-hand domains of MCFD2 mediate interactions with both LMAN1 and coagulation factor V or VIII. (PubMed id 20007547)1, 9 Zheng C....Zhang B. (Blood 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 90411 HGNC: 18451 AceView: MCFD2 Ensembl:ENSG00000180398 euGenes: HUgn90411
    ECgene: MCFD2 H-InvDB: MCFD2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for MCFD2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MCFD2 gene:
    Search GeneIP for patents involving MCFD2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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