Gene Gene information from NCBI Gene database.
Entrez ID 90411
Gene name Multiple coagulation factor deficiency 2, ER cargo receptor complex subunit
Gene symbol MCFD2
Synonyms (NCBI Gene)
F5F8DF5F8D2LMAN1IPSDNSF
Chromosome 2
Chromosome location 2p21
Summary 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.
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.
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607788 18451 ENSG00000180398
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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.
  Reactome
    COPII-mediated vesicle transport
Cargo concentration in the ER
Transport to the Golgi and subsequent modification
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
14
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Abnormal bleeding Likely pathogenic rs1668185105 RCV001270559
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Factor 5 and Factor VIII, combined deficiency of, 2 Likely pathogenic; Pathogenic rs387906286, rs387906287, rs1253799389, rs1294221028, rs1558461545, rs137852913, rs137852914, rs78289603, rs1572611822 RCV000002999
RCV000003000
RCV000003001
RCV000003002
RCV000003003
RCV000003004
RCV000003005
RCV000003006
RCV000985001
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Factor V and factor VIII, combined deficiency of, type 1 Likely pathogenic rs387906286, rs1484184249 RCV000851698
RCV000851982
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MCFD2-related disorder Likely pathogenic rs387906286 RCV003407262
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
COMBINED DEFICIENCY OF FACTOR V AND FACTOR VIII CTD, Orphanet
CTD, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COMBINED IMMUNODEFICIENCY, ENTEROPATHY SPECTRUM Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2 CTD, Disgenet, HPO
CTD, Disgenet, HPO
CTD, Disgenet, HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Blood Coagulation Disorders Inherited Associate 17971482
★☆☆☆☆
Found in Text Mining only
Cerebral Infarction Associate 39521256
★☆☆☆☆
Found in Text Mining only
Coagulation Protein Disorders Associate 9245995
★☆☆☆☆
Found in Text Mining only
COVID 19 Associate 39521256
★☆☆☆☆
Found in Text Mining only
Factor V Deficiency Associate 20138881
★☆☆☆☆
Found in Text Mining only
Factors VIII IX And XI Combined Deficiency of Associate 17971482
★☆☆☆☆
Found in Text Mining only
Familial Multiple Coagulation Factor Deficiency I Associate 16044454, 16304051, 17971482, 18056485, 20138881, 20142513, 32170195, 34939437
★☆☆☆☆
Found in Text Mining only
Familial Multiple Coagulation Factor Deficiency I Stimulate 9245995
★☆☆☆☆
Found in Text Mining only
Hemophilia A Associate 16044454, 20138881
★☆☆☆☆
Found in Text Mining only
Intervertebral Disc Degeneration Associate 34939437
★☆☆☆☆
Found in Text Mining only