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

Homo sapiens

Also known as F5F8D; SDNSF; F5F8D2; LMAN1IP

Gene ID: 90411 | Gene type: protein coding

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

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08224	MCFD2 Human Pre-designed siRNA Set A		/	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

Name
Email *

	Sorry, but the email address you supplied was invalid.