MCFD2 (multiple coagulation factor deficiency 2, ER cargo receptor complex subunit)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
90411
Gene name Gene Name - the full gene name approved by the HGNC.
Multiple coagulation factor deficiency 2, ER cargo receptor complex subunit
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MCFD2
Synonyms (NCBI Gene) Gene synonyms aliases
F5F8D, F5F8D2, LMAN1IP, SDNSF
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p21
Summary Summary of gene provided in NCBI Entrez 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
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(9)
SNP ID Visualize variation Clinical significance Consequence
rs78289603 C>A,G Pathogenic Coding sequence variant, missense variant
rs137852913 G>C Pathogenic Coding sequence variant, missense variant
rs137852914 A>G Pathogenic Coding sequence variant, missense variant
rs387906286 C>T Likely-pathogenic, pathogenic Intron variant
rs387906287 C>T Pathogenic Splice donor variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1694)
miRTarBase ID miRNA Experiments Reference
MIRT021603 hsa-miR-142-3p Microarray 17612493
MIRT023482 hsa-miR-23b-3p Sequencing 20371350
MIRT046152 hsa-miR-30b-5p CLASH 23622248
MIRT045792 hsa-miR-191-5p CLASH 23622248
MIRT039421 hsa-miR-421 CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(12)
GO ID Ontology Definition Evidence Reference
GO:0005509 Function Calcium ion binding IEA
GO:0005515 Function Protein binding IPI 12717434, 16304051, 17971482, 19787799, 20138881, 20142513, 32296183, 32814053, 33961781, 35271311
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane TAS
GO:0005793 Component Endoplasmic reticulum-Golgi intermediate compartment IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
607788 18451 ENSG00000180398
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q8NI22
Protein name Multiple coagulation factor deficiency protein 2 (Neural stem cell-derived neuronal survival protein)
Protein 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.
PDB 2VRG , 3A4U , 3LCP , 3WHT , 3WHU , 3WNX , 4YGB , 4YGC , 4YGD , 4YGE , 8JP4 , 8JP5 , 8JP6 , 8JP7 , 8JP8 , 8JP9 , 8JPG
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13499 EF-hand_7 69 → 146 EF-hand domain pair Domain
Sequence 
MTMRSLLRTPFLCGLLWAFCAPGARAEEPAASFSQPGSMGLDKNTVHDQEHIMEHLEGVI
NKPEAEMSPQELQLHYFKMHDYDGNNLLDGLELSTAITHVHKEEGSEQAPLMSEDELINI
IDGVLRDDDKNNDGYIDYAEFAKSLQ
Sequence length 146
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    COPII-mediated vesicle transport
Cargo concentration in the ER
Transport to the Golgi and subsequent modification
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Factor V Deficiency Factor 5 and Factor VIII, combined deficiency of, 2 rs1572611822, rs387906286, rs387906287, rs1253799389, rs1294221028, rs1558461545, rs137852913, rs137852914, rs78289603 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Combined Deficiency Of Factor V And Factor VIII combined deficiency of factor V and factor VIII N/A N/A GenCC
Show/Hide Text Mining Associations (11)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Blood Coagulation Disorders Inherited Associate 17971482
Cerebral Infarction Associate 39521256
Coagulation Protein Disorders Associate 9245995
COVID 19 Associate 39521256
Factor V Deficiency Associate 20138881
Factors VIII IX And XI Combined Deficiency of Associate 17971482
Familial Multiple Coagulation Factor Deficiency I Associate 16044454, 16304051, 17971482, 18056485, 20138881, 20142513, 32170195, 34939437
Familial Multiple Coagulation Factor Deficiency I Stimulate 9245995
Hemophilia A Associate 16044454, 20138881
Intervertebral Disc Degeneration Associate 34939437