ENSG00000180398


Homo sapiens

Features
Gene ID: ENSG00000180398
  
Biological name :MCFD2
  
Synonyms : MCFD2 / multiple coagulation factor deficiency 2 / Q8NI22
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 2
Strand: -1
Band: p21
Gene start: 46901870
Gene end: 46941855
  
Corresponding Affymetrix probe sets: 1559309_at (Human Genome U133 Plus 2.0 Array)   212245_at (Human Genome U133 Plus 2.0 Array)   212246_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000394647
Ensembl peptide - ENSP00000387541
Ensembl peptide - ENSP00000402717
Ensembl peptide - ENSP00000317271
Ensembl peptide - ENSP00000386261
Ensembl peptide - ENSP00000386279
Ensembl peptide - ENSP00000386386
Ensembl peptide - ENSP00000386651
Ensembl peptide - ENSP00000386941
Ensembl peptide - ENSP00000387082
Ensembl peptide - ENSP00000387202
Ensembl peptide - ENSP00000387360
NCBI entrez gene - 90411     See in Manteia.
OMIM - 607788
RefSeq - NM_001171510
RefSeq - NM_139279
RefSeq - NM_001171506
RefSeq - NM_001171507
RefSeq - NM_001171508
RefSeq - NM_001171509
RefSeq - NM_001171511
RefSeq Peptide - NP_001164981
RefSeq Peptide - NP_644808
RefSeq Peptide - NP_001164977
RefSeq Peptide - NP_001164978
RefSeq Peptide - NP_001164979
RefSeq Peptide - NP_001164980
RefSeq Peptide - NP_001164982
swissprot - Q8NI22
swissprot - C9JTR4
swissprot - H7BZ18
Ensembl - ENSG00000180398
  
Related genetic diseases (OMIM): 613625 - Factor V and factor VIII, combined deficiency of, 613625
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 mcfd2ENSDARG00000039757Danio rerio
 MCFD2ENSGALG00000010017Gallus gallus
 Mcfd2ENSMUSG00000024150Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR002048  EF-hand domain
 IPR011992  EF-hand domain pair
 IPR018247  EF-Hand 1, calcium-binding site


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006888 ER to Golgi vesicle-mediated transport TAS
 biological_processGO:0015031 protein transport IEA
 biological_processGO:0016192 vesicle-mediated transport IEA
 biological_processGO:0018279 protein N-linked glycosylation via asparagine TAS
 biological_processGO:0048208 COPII vesicle coating TAS
 cellular_componentGO:0000139 Golgi membrane IEA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane TAS
 cellular_componentGO:0005793 endoplasmic reticulum-Golgi intermediate compartment IEA
 cellular_componentGO:0005794 Golgi apparatus IEA
 cellular_componentGO:0012507 ER to Golgi transport vesicle membrane TAS
 cellular_componentGO:0033116 endoplasmic reticulum-Golgi intermediate compartment membrane TAS
 molecular_functionGO:0005509 calcium ion binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
COPII-mediated vesicle transport
Cargo concentration in the ER
Transport to the Golgi and subsequent modification


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000132 Menorrhagia 
Show

 HP:0000421 Epistaxis 
Show

 HP:0001934 Persistent bleeding after trauma 
Show

 HP:0003125 Factor VIII deficiency 
Show

 HP:0003225 Factor V deficiency 
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000074695 LMAN1 / P49257 / lectin, mannose binding 1  / complex
 ENSG00000185010 F8 / P00451 / coagulation factor VIII  / complex / reaction
 ENSG00000198734 F5 / P12259 / coagulation factor V  / complex / reaction
 ENSG00000180398 MCFD2 / Q8NI22 / multiple coagulation factor deficiency 2  / complex






 

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