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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MCFD2 Gene

protein-coding   GIFtS: 62
GCID: GC02M047129

multiple coagulation factor deficiency 2
 Explore 15 diseases affiliated with
MCFD2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for MCFD2    

Aliases
for MCFD2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Multiple Coagulation Factor Deficiency 21 2     Neural Stem Cell-Derived Neuronal Survival Protein2 3
SDNSF1 2 3     F5F8D22 5
F5F8D1 2     Multiple Coagulation Factor Deficiency Protein 22
LMAN1IP1 2     Neural Stem Cell Derived Neuronal Survival Protein2

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


Summaries
for MCFD2 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for MCFD2:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  NT_022184.15  
Regulatory elements:
   SABiosciences 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 plasmid: MCFD2 promoter sequence
   Search SABiosciences Chromatin IP Primers for MCFD2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for MCFD2 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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
Subcellular location: Endoplasmic reticulum-Golgi intermediate compartment. Endoplasmic reticulum. Golgi apparatus
Sequence caution: Sequence=CAD38756.1; Type=Erroneous initiation;
3 PDB 3D structures from and Proteopedia for MCFD2:
2VRG (3D)        3A4U (3D)        3LCP (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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8NI22

    • MCFD2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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
    Human Recombinant Protein Products: 
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    Novus Biologicals MCFD2 Proteins
    Novus Biologicals MCFD2 Lysates
    Browse Sino Biological Recombinant Proteins
    ProSpec Recombinant Protein for MCFD2
    Uscn Proteins for MCFD2

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region ----
    GO:0005783endoplasmic reticulum IEA--
    GO:0005793endoplasmic reticulum-Golgi intermediate compartment IEA--
    GO:0005794Golgi apparatus IEA--
    GO:0012507ER to Golgi transport vesicle membrane TAS--


    MCFD2 for ontologies           About GeneDecksing



    MCFD2 Antibody Products: 
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    Uscn ELISAs and CLIAs for MCFD2

    Protein Domains /
    Families
    for MCFD2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    MCFD2 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR011992 EF-hand-like_dom
     IPR002048 EF_hand_Ca-bd
     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


    Function
    for MCFD2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

    miRNA
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    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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    Inhib. RNA
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    Gene Editing
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    Clone
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MCFD2 

    Cell Line
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    Search LifeMap BioReagents cell lines for MCFD2

    In Situ Assay
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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--


    MCFD2 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for MCFD2:
     Increased G1 DNA content 


    Pathways & Interactions
    for MCFD2 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Asparagine N-linked glycosylation
    		Asparagine N-linked glycosylation1.00
    		Metabolism of proteins0.15
    		Post-translational protein modification0.44
    2N-glycan antennae elongation in the medial/trans-Golgi
    		Transport to the Golgi and subsequent modification0.56

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    4        Reactome Pathways for MCFD2
        Transport to the Golgi and subsequent modification
    Asparagine N-linked glycosylation
    Metabolism of proteins
    Post-translational protein modification



    MCFD2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MCFD2

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    4 Interacting proteins for MCFD2 (Q8NI222, 3 ENSP000003172714) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    LMAN1P492572, 3, ENSP000002510474MINT-7557086 I2D: score=3 STRING: ENSP00000251047
    F8P004513, ENSP000003533934I2D: score=2 STRING: ENSP00000353393
    HDAC1Q135473I2D: score=5 
    RXRBP287023I2D: score=1 
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    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:0019752carboxylic acid metabolic process ----
    GO:0043687post-translational protein modification TAS--


    MCFD2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for MCFD2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    MCFD2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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 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)

    Search CenterWatch for drugs/clinical trials and news about MCFD2 

    Transcripts
    for MCFD2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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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    8/60 QIAGEN miScript miRNA 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
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MCFD2 (see all 7)
    OriGene shRNA RFP: MCFD2
    Browse OriGene siRNA
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MCFD2
    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 7): MCFD2 (NM_139279)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MCFD2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MCFD2 
    Primer
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MCFD2

    Additional cDNA 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 

    24/354 AceView cDNA sequences (see all 354):

    BU625610 AI499559 BG777732 BU158582 BU580817 AL833900 BM692582 AI829545 
    AA370568 AI362034 AI079820 BQ575115 W74369 AU123619 AA135505 BQ012977 
    BP381359 BU533741 AI361507 BC040357 AA343789 AA600007 CA944885 CF552934 

    GeneLoc Exon Structure

    5/9 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

    Expression
    for MCFD2 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MCFD2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GATTCTTTTC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See MCFD2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MCFD2

    SOURCE GeneReport for Unigene cluster: Hs.662152
        SABiosciences Custom PCR Arrays for MCFD2
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    In Situ
    Assay Products:     
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    Orthologs
    for MCFD2 gene

    (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)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for MCFD2 gene from 7/17 species (see all 17)    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 73.24(n)
    73.72(a)    		   421413  NM_001006400.1  NP_001006400.1 
    lizard
    (Anolis carolinensis)    		 Reptilia MCFD26
    		 --
    		 57(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 T04F3.46
    F55A11.16
    		 --
    		 35(a)
    32(a)
    		 many → 1
    many → 1
    		 V(11761873-11763049)
    V(11763120-11764360)


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

    Paralogs
    for MCFD2 gene

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

    MCFD2 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for MCFD2
    PGOHUM00000243529


    Genomic Variants
    for MCFD2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/492 NCBI SNPs in MCFD2 are shown (see all 492)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 2 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs782896031,2
    		Cpathogenic46872280(-) TGCATC/G/TATTAT 21 H D Y mis10--------
    rs556549641,2
    		C,F,--46865776(+) GCCAAC/AAACTG 7 -- ds50014Minor allele frequency- A:0.20WA NA 242
    rs13451301,2
    		H--46865807(-) CCCCTC/TTGGAT 7 -- ds50014Minor allele frequency- T:0.00NS EA 420
    rs101999651,2
    		C,F,A,H,--46865864(+) GGGTAC/GGGAGG 7 -- ds500110Minor allele frequency- G:0.13NS EA NA WA 782
    rs803098831,2
    		F,--46865865(+) GGTACG/AGAGGG 7 -- ds50011Minor allele frequency- A:0.06WA 118
    rs170358781,2
    		C,F,H,--46866099(+) AAATGC/GCTAAA 7 -- ds50019Minor allele frequency- G:0.04NA NS EA WA 798
    rs284059281,2
    		F,--46866186(+) CTATGA/GTAAGA 7 -- ds50011Minor allele frequency- G:0.08NA 120
    rs75860041,2
    		C,F,A,H,--46866215(+) TTGTAG/TTAAAC 7 -- ds500118Minor allele frequency- T:0.12NS EA NA WA 2342
    rs118997891,2
    		C,F,H,--46866269(+) CTGCTC/TGAGGT 7 -- ds50018Minor allele frequency- T:0.01NA NS EA 566
    rs88611,2
    		C,F,O,A,H,--46866545(+) ATCCAA/GTAAAC 7 -- ut31 ese319Minor allele frequency- G:0.11EA MN NS NA WA 4006

    HapMap Linkage Disequilibrium report for MCFD2 (47129009 - 47168994 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for MCFD2: --
    Human Gene Mutation Database (HGMD): MCFD2

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MCFD2
    DNA2.0 Custom Variant and Variant Library Synthesis for MCFD2

    Disorders / Diseases
    for MCFD2 gene

    (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.)
    About This Section
    MCFD2 for disorders           About GeneDecksing

    OMIM gene information: 607788   
    OMIM disorders: 613625  
    UniProtKB/Swiss-Prot: MCFD2_HUMAN, Q8NI22
  • Defects in MCFD2 are a cause of factor V and factor VIII combined deficiency type 2 (F5F8D2) [MIM:613625];
    • also known as multiple coagulation factor deficiency 2 (MCFD2). F5F8D2 is 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

    15 diseases for MCFD2:    About MalaCards
    factor v and factor viii    factor v and factor viii, combined deficiency of    bleeding disorder    combined factor v and viii deficiency
    testicular germ cell tumor    factor viii deficiency    factor v deficiency    warfarin resistance
    congenital dyserythropoietic anemia    germ cell tumor    neuronitis    dyserythropoietic anemia
    hemophilia    seminoma    anemia

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

    4 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: MCFD2 (2 documents)

    Export disorders for MCFD2 gene to outside databases

    Publications
    for MCFD2 gene

    (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)
    About This Section

    PubMed articles for MCFD2 gene, integrated from 9 sources (see all 45):
    (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. (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. (2008)
    3. Crystal structure of the LMAN1-CRD/MCFD2 transport re ceptor complex provides insight into combined deficiency of factor V and factor VIII. (PubMed id 20138881)1, 2, 9 Wigren E....Lindqvist Y. (2010)
    4. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W....Wilson R.K. (2005)
    5. 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. (2005)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. 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. (2004)
    8. Repetitive nucleotide sequence insertions into a novel calmodulin-related gene and its processed pseudogene. (PubMed id 2463956)1, 3 Deka N....Schmid C.W. (1988)
    9. EF-hand domains of MCFD2 mediate interactions with bo th LMAN1 and coagulation factor V or VIII. (PubMed id 20007547)1, 9 Zheng C....Zhang B. (2010)
    10. The sugar-binding ability of ERGIC-53 is enhanced by its interaction with MCFD2. (PubMed id 18056485)1, 9 Kawasaki N....Yamamoto K. (2008)

    External Searches for MCFD2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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      Query String
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    Genome Databases showing MCFD2 gene

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

    Other Databases showing MCFD2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing MCFD2 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for MCFD2 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for MCFD2 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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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    About This Section

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