MCFD2 - multiple coagulation factor deficiency 2, ER cargo receptor complex subunit Gene

Also Known as F5F8D; SDNSF; F5F8D2; LMAN1IP

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 90411

About MCFD2

Cytogenetic location: 2p21 Genomic coordinates (GRCh38): 2:46,901,870-46,941,855 (from NCBI)

This gene has 18 transcripts (splice variants), 221 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in adrenal (RPKM 49.7), thyroid (RPKM 38.1) and 25 other tissues.

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 V (FV) and VIII (FVIII) from the endoplasmic reticulum to the Golgi apparatus via an endoplasmic reticulum Golgi intermediate compartment (ERGIC). Mutations in this gene cause combined deficiency of FV and FVIII (F5F8D); a rare autosomal recessive bleeding disorder characterized by mild to moderate bleeding and coordinate reduction in plasma FV and FVIII levels. This protein has also been shown to maintain stem cell potential in adult central nervous system and is a marker for testicular germ cell tumors. The 3' UTR of this gene contains a transposon-like human repeat element named 'THE 1'. A processed RNA pseudogene of this gene is on chromosome 6p22.1. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2016]

MCFD2 Products (7)

mRNA	Protein	Name
NM_001171506.2	NP_001164977.1	multiple coagulation factor deficiency protein 2 isoform A precursor
NM_001171507.2	NP_001164978.1	multiple coagulation factor deficiency protein 2 isoform A precursor
NM_001171508.2	NP_001164979.1	multiple coagulation factor deficiency protein 2 isoform A precursor
NM_001171509.3	NP_001164980.1	multiple coagulation factor deficiency protein 2 isoform B
NM_001171510.3	NP_001164981.1	multiple coagulation factor deficiency protein 2 isoform B
NM_001171511.3	NP_001164982.1	multiple coagulation factor deficiency protein 2 isoform C
NM_139279.6	NP_644808.1	multiple coagulation factor deficiency protein 2 isoform A precursor

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	12717434	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MCFD2 Protein Structure

EF-hand_7

0
100
146 a.a.

Protein Preferred Names	Protein Names
multiple coagulation factor deficiency protein 2	neural stem cell-derived neuronal survival protein

MCFD2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	MCFD2	Q8NI22	P2RY6	Homo sapiens	Q15077	Y2H Prey Pooling	32296183
Intra	MCFD2	Q8NI22	P2RY6	Homo sapiens	Q15077	Y2H Array	32296183
Intra	MCFD2	Q8NI22	LMAN1	Homo sapiens	P49257	X-Ray Diffraction	20138881
Intra	MCFD2	Q8NI22	LMAN1	Homo sapiens	P49257	Anti Tag CoIP	33961781
Intra	MCFD2	Q8NI22	LMAN1	Homo sapiens	P49257	Anti Bait CoIP	16304051
Intra	MCFD2	Q8NI22	CMTM5	Homo sapiens	Q96DZ9-2	Validated Y2H	32296183
Intra	MCFD2	Q8NI22	LAMP2	Homo sapiens	P13473-2	Y2H Array	32814053
Intra	MCFD2	Q8NI22	LAMP2	Homo sapiens	P13473-2	Y2H Pooling	32814053
Intra	MCFD2	Q8NI22	LAMP2	Homo sapiens	P13473-2	Validated Y2H	32814053
Cross	MCFD2	Q8NI22	LMAN1	Chlorocebus aethiops	Q9TU32	Anti Bait CoIP	12717434
Cross	MCFD2	Q8NI22	LMAN1	Chlorocebus aethiops	Q9TU32	Anti Tag CoIP	12717434
Intra	MCFD2	Q8NI22	SH3GLB1	Homo sapiens	Q9Y371	Y2H Pooling	32814053
Intra	MCFD2	Q8NI22	SH3GLB1	Homo sapiens	Q9Y371	Validated Y2H	32814053
Intra	MCFD2	Q8NI22	SH3GLB1	Homo sapiens	Q9Y371	Y2H Array	32814053
Intra	MCFD2	Q8NI22	CCK	Homo sapiens	P06307	Y2H Pooling	32814053
Intra	MCFD2	Q8NI22	CCK	Homo sapiens	P06307	Validated Y2H	32814053
Intra	MCFD2	Q8NI22	CCK	Homo sapiens	P06307	Y2H Array	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Factor V And Factor Viii, Combined Deficiency Of, 2	Factor V And Factor Viii, Combined Deficiency Of F5F8D2 Combined Deficiency Of Factor V And Factor Viii F5f8d Factor 5 And Factor Viii, Combined Deficiency Of, 2 Fv And Fviii Combined Deficiency Factor V And Factor Viii Combined Deficiency 2 Mcfd2 Multiple Coagulation Factor Deficiency 2 Deficiency, Combined, Factor V And Factor Viii, Type 2
Factor V And Factor Viii, Combined Deficiency Of, 1	F5F8D1 Familial Multiple Coagulation Factor Deficiency I Fmfd1 Fmfd I Multiple Coagulation Factor Deficiency I Mcfd1 Combined Factor V And Viii Deficiency Factor V And Factor Viii, Combined Deficiency Of, Type 1 Factor V And Factor Viii Combined Deficiency 1 Multiple Coagulation Factor Deficiency 1 Deficiency, Combined, Factor V And Factor Viii, Type 1 Factor V And Factor Viii, Combined Deficiency Of
Severe Combined Immunodeficiency	Scid Severe Combined Immunodeficiency Disease Combined T And B Cell Inborn Immunodeficiency Immunodeficiency, Severe Combined Scid - [Severe Combined Immunodeficiencies]
Thrombocytopenia	Low Platelet Count Low Platelets Decreased Platelets Platelet Dysfunction Nos
Coumarin Resistance	Warfarin Resistance Warfarin Sensitivity Coumadin Sensitivity Warfarin Response Poor Metabolism Of Coumarin Coumarin, Poor Metabolism Of CMRES
Brachydactyly, Type D	Brachydactyly Type D BDD Stub Thumb Brachydactyly D
Hereditary Combined Deficiency Of Vitamin K-Dependent Clotting Factors	Hereditary Combined Deficiency Of Factors Ii, Vii, Ix And X Vkcfd
Factor V Deficiency	Parahemophilia Labile Factor Deficiency Proaccelerin Deficiency Owren Disease Owren Parahemophilia Quebec Platelet Disorder Deficiency, Labile Hereditary Hypoproaccelerinaemia Owren'S Disease Congenital Factor V Deficiency FA5D Factor 5 Deficiency Deficiency, Factor V
Factor Viii Deficiency	Autosomal Hemophilia A Hemophilia A Autosomal Factor Viii Deficiency Classic Hemophilia A Congenital Factor Viii Disorder Subhemophilia Factor 8 Deficiency, Congenital Factor Viii
Prothrombin Deficiency	Factor Ii Deficiency Hypoprothrombinemia Dysprothrombinemia Deficiency, Prothrombin Inherited Factor Ii Deficiency Hereditary Factor Ii Deficiency Disease
Factor X Deficiency	Stuart-Prower Factor Deficiency F10 Deficiency Congenital Stuart Factor Deficiency Factor X Deficiency, Congenital Congenital Factor X Deficiency Disease, Stuart-Prower Stuart Factor Deficiency, Congenital FA10D Factor 10 Deficiency Deficiency, Factor X Hereditary Factor X Deficiency Disease Deficiency Of Factor X Stuart Deficiency Disease Stuart Prower Deficiency Stuart-Prower Disease
Factor Xiii Deficiency	Hereditary Factor Xiii Deficiency Disease Deficiency, Laki-Lorand Factor Congenital Factor Xiii Deficiency Fibrin Stabilizing Factor Deficiency Deficiency, Factor Xiii Factor Xiii Deficiency Disease Deficiency Of Factor Xiii Fibrin-Stabilizing Factor Deficiency Factor Xiii Deficiency, Congenital
Hemarthrosis	Haemarthrosis Of Shoulder Joint Haemarthrosis Of The Ankle And Foot Haemarthrosis Of The Pelvic Region And Thigh Hemarthrosis Involving Ankle And Foot Hemarthrosis Involving Forearm Hemarthrosis Involving Hand Hemarthrosis Involving Lower Leg Hemarthrosis Involving Pelvic Region And Thigh Hemarthrosis Involving Shoulder Region Hemarthrosis Involving Upper Arm Hemarthrosis Of Ankle And/Or Foot Hemarthrosis Of Forearm Hemarthrosis Of Hand Hemarthrosis Of Lower Leg Hemarthrosis Of Shoulder Hemarthrosis Of Shoulder Region Hemarthrosis Of The Ankle And Foot Hemarthrosis Of The Ankle And/Or Foot Hemarthrosis Of The Forearm Hemarthrosis Of The Hand Hemarthrosis Of The Lower Leg Hemarthrosis Of The Pelvic Region And Thigh Hemarthrosis Of The Shoulder Region Hemarthrosis Of The Upper Arm Hemarthrosis Of Upper Arm
Anemia, Congenital Dyserythropoietic, Type Ii	Congenital Dyserythropoietic Anemia Type Ii CDAN2 Cda Ii Hereditary Erythroblastic Multinuclearity With Positive Acidified-Serum Test Cda Type Ii Congenital Dyserythropoietic Anemia Type 2 Hereditary Erythroblastic Multinuclearity With A Positive Acidified-Serum Test Sec23b-Cdg Congenital Dyserythropoietic Anemia, Type Ii Dyserythropoietic Anemia, Hempas Type Hempas Cda Type 2 Dyserythropoietic Anemia, Congenital, Type Ii Cda, Type Ii Congenital Dyserythropoietic Anaemia Type 2 Congenital Dyserythropoietic Anaemia Type Ii Anemia, Dyserythropoietic, Congenital Type 2 Hempas Anemia Dyserythropoietic Anemia, Congenital Type 2 Anemia, Congenital Dyserythropoietic, 2 Dyserythropoietic Anemia Hempas Type Anemia, Dyserythropoietic Congenital, Type Ii Anemia, Dyserythropoietic, Congenital, Type Ii
Venezuelan Hemorrhagic Fever	Guanarito Hemorrhagic Fever Vehf - [Venezuelan Haemorrhagic Fever]
Factor Xi Deficiency	Plasma Thromboplastin Antecedent Deficiency Rosenthal Syndrome Pta Deficiency Hemophilia C Rosenthal Factor Deficiency F11 Deficiency Congenital Factor Xi Deficiency Hereditary Factor Xi Deficiency Disease Haemophilia C Factor Xi Deficiency, Autosomal Dominant Rosenthal'S Disease Factor 11 Deficiency Factor Xi Factor Xi Deficiency, Autosomal Recessive Factor Xi Deficiency, Congenital FA11D Thromboplastin Antecedent Deficiency Pta - [Plasma Thromboplastin Antecedent] Deficiency Congenital Factor Xi Deficiency Disease Rosenthal Disease
Afibrinogenemia, Congenital	Congenital Afibrinogenemia Afibrinogenemia Factor I Deficiency Familial Afibrinogenemia Hypofibrinogenemia, Congenital Fibrinogen Deficiency Afibrinogenemia Congenital CAFBN Congenital Hypofibrinogenemia Hypofibrinogenemia Complement Factor I Deficiency

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08224	MCFD2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21643	Mcfd2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28161	Mcfd2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	MCFD2	MGD	MGI:2183439
Bos taurus	MCFD2	VGNC	VGNC:31304
Macaca mulatta	MCFD2	VGNC	VGNC:106182
Rattus norvegicus	MCFD2	RGD	RGD:628690
Canis familiaris	MCFD2	VGNC	VGNC:43075
Others	MCFD2	NCBI