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

2019-04-01  

Identity

HGNC
MCFD2
LOCATION
2p21
LOCUSID
90411
ALIAS
F5F8D,F5F8D2,LMAN1IP,SDNSF
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 90411
MIM: 607788
HGNC: 18451
Ensembl: ENSG00000180398

Variants:

dbSNP: 90411
ClinVar: 90411
TCGA: ENSG00000180398
COSMIC: MCFD2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000180398ENST00000319466Q8NI22
ENSG00000180398ENST00000409105Q8NI22
ENSG00000180398ENST00000409147Q8NI22
ENSG00000180398ENST00000409207Q8NI22
ENSG00000180398ENST00000409218Q8NI22
ENSG00000180398ENST00000409800Q8NI22
ENSG00000180398ENST00000409913Q8NI22
ENSG00000180398ENST00000409973Q8NI22
ENSG00000180398ENST00000412438Q8NI22
ENSG00000180398ENST00000417180C9JTR4
ENSG00000180398ENST00000434262H7BZ18
ENSG00000180398ENST00000444761Q8NI22
ENSG00000180398ENST00000649435A0A3B3IU18

Expression (GTEx)

0
50
100
150
200
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Asparagine N-linked glycosylationREACTOMER-HSA-446203
Transport to the Golgi and subsequent modificationREACTOMER-HSA-948021
ER to Golgi Anterograde TransportREACTOMER-HSA-199977
COPII (Coat Protein 2) Mediated Vesicle TransportREACTOMER-HSA-204005
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Cargo concentration in the ERREACTOMER-HSA-5694530

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
127174342003Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complex.69
158862092005LMAN1 and MCFD2 form a cargo receptor complex and interact with coagulation factor VIII in the early secretory pathway.46
170101202006Cargo selectivity of the ERGIC-53/MCFD2 transport receptor complex.25
237092262013Structural characterization of carbohydrate binding by LMAN1 protein provides new insight into the endoplasmic reticulum export of factors V (FV) and VIII (FVIII).24
180564852008The sugar-binding ability of ERGIC-53 is enhanced by its interaction with MCFD2.17
177853712007Novel germ cell markers characterize testicular seminoma and fetal testis.15
200075472010EF-hand domains of MCFD2 mediate interactions with both LMAN1 and coagulation factor V or VIII.12
183910772008Genotype-phenotype correlation in combined deficiency of factor V and factor VIII.11
183910772008Genotype-phenotype correlation in combined deficiency of factor V and factor VIII.11
185907412008New insights into multiple coagulation factor deficiency from the solution structure of human MCFD2.11

Citation

Dessen P

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

Atlas Genet Cytogenet Oncol Haematol. 2019-04-01

Online version: http://atlasgeneticsoncology.org/gene/57847/mcfd2