Human Gene MCFD2 (ENST00000319466.9_6) from GENCODE V47lift37
  Description: multiple coagulation factor deficiency 2, ER cargo receptor complex subunit, transcript variant 1 (from RefSeq NM_139279.6)
Gencode Transcript: ENST00000319466.9_6
Gencode Gene: ENSG00000180398.13_10
Transcript (Including UTRs)
   Position: hg19 chr2:47,129,013-47,142,945 Size: 13,933 Total Exon Count: 4 Strand: -
Coding Region
   Position: hg19 chr2:47,132,602-47,136,310 Size: 3,709 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:47,129,013-47,142,945)mRNA (may differ from genome)Protein (146 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MCFD2_HUMAN
DESCRIPTION: RecName: Full=Multiple coagulation factor deficiency protein 2; AltName: Full=Neural stem cell-derived neuronal survival protein; Flags: Precursor;
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.
SUBUNIT: Interacts in a calcium-dependent manner with LMAN1.
SUBCELLULAR LOCATION: Endoplasmic reticulum-Golgi intermediate compartment. Endoplasmic reticulum. Golgi apparatus.
DOMAIN: Essentially unstructured in the absence of calcium ions. Requires calcium ions for folding.
DISEASE: 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.
SIMILARITY: Contains 2 EF-hand domains.
SEQUENCE CAUTION: Sequence=CAD38756.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: MCFD2
Diseases sorted by gene-association score: factor v and factor viii, combined deficiency of* (1672), combined factor v and viii deficiency (13), coumarin resistance (9)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 83.66 RPKM in Adrenal Gland
Total median expression: 1196.85 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -32.3090-0.359 Picture PostScript Text
3' UTR -1080.403589-0.301 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011992 - EF-hand-like_dom
IPR018247 - EF_Hand_1_Ca_BS
IPR018249 - EF_HAND_2

Pfam Domains:
PF13202 - EF hand
PF13499 - EF-hand domain pair

SCOP Domains:
47473 - EF-hand

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2VRG - NMR MuPIT 3A4U - X-ray MuPIT 3LCP - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q8NI22
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0046872 metal ion binding

Biological Process:
GO:0006888 ER to Golgi vesicle-mediated transport
GO:0015031 protein transport
GO:0016192 vesicle-mediated transport
GO:0048208 COPII vesicle coating

Cellular Component:
GO:0000139 Golgi membrane
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005793 endoplasmic reticulum-Golgi intermediate compartment
GO:0005794 Golgi apparatus
GO:0012507 ER to Golgi transport vesicle membrane
GO:0033116 endoplasmic reticulum-Golgi intermediate compartment membrane


-  Descriptions from all associated GenBank mRNAs
  BC037845 - Homo sapiens multiple coagulation factor deficiency 2, mRNA (cDNA clone MGC:42267 IMAGE:4815069), complete cds.
BC040357 - Homo sapiens multiple coagulation factor deficiency 2, mRNA (cDNA clone MGC:9537 IMAGE:3925166), complete cds.
AL833900 - Homo sapiens mRNA; cDNA DKFZp762M047 (from clone DKFZp762M047); complete cds.
CR749562 - Homo sapiens mRNA; cDNA DKFZp686G21263 (from clone DKFZp686G21263).
AK095006 - Homo sapiens cDNA FLJ37687 fis, clone BRHIP2014285.
M23161 - Human transposon-like element mRNA.
AF537214 - Homo sapiens multiple coagulation factor deficiency protein 2 (MCFD2) mRNA, complete cds.
JD448997 - Sequence 430021 from Patent EP1572962.
JD058475 - Sequence 39499 from Patent EP1572962.
JD508376 - Sequence 489400 from Patent EP1572962.
JD132939 - Sequence 113963 from Patent EP1572962.
JD145821 - Sequence 126845 from Patent EP1572962.
JD092628 - Sequence 73652 from Patent EP1572962.
JD111854 - Sequence 92878 from Patent EP1572962.
JD282938 - Sequence 263962 from Patent EP1572962.
JD144387 - Sequence 125411 from Patent EP1572962.
JD102895 - Sequence 83919 from Patent EP1572962.
JD288738 - Sequence 269762 from Patent EP1572962.
JD360707 - Sequence 341731 from Patent EP1572962.
JD528700 - Sequence 509724 from Patent EP1572962.
JD094602 - Sequence 75626 from Patent EP1572962.
JD324854 - Sequence 305878 from Patent EP1572962.
DQ577493 - Homo sapiens piRNA piR-45605, complete sequence.
JD492203 - Sequence 473227 from Patent EP1572962.
JD147044 - Sequence 128068 from Patent EP1572962.
DQ570462 - Homo sapiens piRNA piR-30574, complete sequence.
JD273866 - Sequence 254890 from Patent EP1572962.
JD315596 - Sequence 296620 from Patent EP1572962.
JD371975 - Sequence 352999 from Patent EP1572962.
JD506482 - Sequence 487506 from Patent EP1572962.
JD362595 - Sequence 343619 from Patent EP1572962.
JD364089 - Sequence 345113 from Patent EP1572962.
JD158272 - Sequence 139296 from Patent EP1572962.
JD191771 - Sequence 172795 from Patent EP1572962.
JD325676 - Sequence 306700 from Patent EP1572962.
JD367122 - Sequence 348146 from Patent EP1572962.
JD188859 - Sequence 169883 from Patent EP1572962.
JD524382 - Sequence 505406 from Patent EP1572962.
JD402044 - Sequence 383068 from Patent EP1572962.
JD422401 - Sequence 403425 from Patent EP1572962.
JD186471 - Sequence 167495 from Patent EP1572962.
JD173667 - Sequence 154691 from Patent EP1572962.
JD561940 - Sequence 542964 from Patent EP1572962.
JD219228 - Sequence 200252 from Patent EP1572962.
JD483274 - Sequence 464298 from Patent EP1572962.
JD088981 - Sequence 70005 from Patent EP1572962.
JD375211 - Sequence 356235 from Patent EP1572962.
AK293889 - Homo sapiens cDNA FLJ59187 complete cds, highly similar to Multiple coagulation factor deficiency protein 2 homolog precursor.
JD401080 - Sequence 382104 from Patent EP1572962.
AK292127 - Homo sapiens cDNA FLJ75145 complete cds, highly similar to Homo sapiens multiple coagulation factor deficiency 2 (MCFD2),mRNA.
JD512387 - Sequence 493411 from Patent EP1572962.
JD291391 - Sequence 272415 from Patent EP1572962.
JD327946 - Sequence 308970 from Patent EP1572962.
JD224456 - Sequence 205480 from Patent EP1572962.
AF475284 - Homo sapiens neural stem cell derived neuronal survival protein precursor (SDNSF) mRNA, complete cds.
JD114164 - Sequence 95188 from Patent EP1572962.
DQ891104 - Synthetic construct clone IMAGE:100003734; FLH169368.01X; RZPDo839B0696D multiple coagulation factor deficiency 2 (MCFD2) gene, encodes complete protein.
DQ894285 - Synthetic construct Homo sapiens clone IMAGE:100008745; FLH169364.01L; RZPDo839B0695D multiple coagulation factor deficiency 2 (MCFD2) gene, encodes complete protein.
CU691864 - Synthetic construct Homo sapiens gateway clone IMAGE:100017926 5' read MCFD2 mRNA.
KJ895121 - Synthetic construct Homo sapiens clone ccsbBroadEn_04515 MCFD2 gene, encodes complete protein.
KR709606 - Synthetic construct Homo sapiens clone CCSBHm_00003930 MCFD2 (MCFD2) mRNA, encodes complete protein.
KR709607 - Synthetic construct Homo sapiens clone CCSBHm_00003931 MCFD2 (MCFD2) mRNA, encodes complete protein.
KR709608 - Synthetic construct Homo sapiens clone CCSBHm_00003933 MCFD2 (MCFD2) mRNA, encodes complete protein.
KR709609 - Synthetic construct Homo sapiens clone CCSBHm_00003934 MCFD2 (MCFD2) mRNA, encodes complete protein.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q8NI22 (Reactome details) participates in the following event(s):

R-HSA-5694431 Hexameric LMAN1:MCFD2 bind glycosylated Factor V and VIII precursors
R-HSA-947991 Transport of glycoproteins with Man8 (or Man9) N-glycans to the Golgi
R-HSA-5694522 Inner coat assembly and cargo binding
R-HSA-5694527 Loss of SAR1B GTPase
R-HSA-5694446 BET1:GOSR2:STX5 bind v-SNARES on tethered vesicle
R-HSA-5694441 CSNK1D phosphorylates SEC23
R-HSA-5694439 COPII coat binds TRAPPCII and RAB1:GDP
R-HSA-203973 Vesicle budding
R-HSA-5694417 SEC16 complex binds SAR1B:GTP:SEC23:SEC24
R-HSA-5694418 RAB1:GTP binds USO1 and GORASP1:GOLGA2
R-HSA-5694409 Nucleotide exchange on RAB1
R-HSA-204008 SEC31:SEC13 and v-SNARE recruitment
R-HSA-5694530 Cargo concentration in the ER
R-HSA-948021 Transport to the Golgi and subsequent modification
R-HSA-199977 ER to Golgi Anterograde Transport
R-HSA-446203 Asparagine N-linked glycosylation
R-HSA-204005 COPII-mediated vesicle transport
R-HSA-199991 Membrane Trafficking
R-HSA-597592 Post-translational protein modification
R-HSA-5653656 Vesicle-mediated transport
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: A8K7W2, D6W5A9, E9PD95, ENST00000319466.1, ENST00000319466.2, ENST00000319466.3, ENST00000319466.4, ENST00000319466.5, ENST00000319466.6, ENST00000319466.7, ENST00000319466.8, MCFD2_HUMAN, NM_139279, Q53SS3, Q68D61, Q8N3M5, Q8NI22, SDNSF, uc317qrg.1, uc317qrg.2
UCSC ID: ENST00000319466.9_6
RefSeq Accession: NM_139279.6
Protein: Q8NI22 (aka MCFD2_HUMAN or MCD2_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.