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

中文名称：多种凝血因子缺乏症 2，ER 货物受体复合物亚基

种属: Homo sapiens

同用名: F5F8D; SDNSF; F5F8D2; LMAN1IP

基因 ID: 90411 | 基因类型: protein coding

关于 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.

功能概要

该基因编码一种可溶性管腔蛋白，其 C 末端具有两个钙调蛋白样 EF 手基序。该蛋白与 LMAN1 (凝集素甘露糖结合蛋白 1；也称为 ERGIC-53) 形成复合物，促进凝血因子 V (FV) 和 VIII (FVIII) 通过内质网高尔基体从内质网转运至高尔基体中间隔间 (ERGIC) 。该基因的突变导致 FV 和 FVIII (F5F8D) 的联合缺陷；一种罕见的常染色体隐性遗传性出血性疾病，其特征是轻度至中度出血以及血浆 FV 和 FVIII 水平的协调降低。这种蛋白质也被证明可以维持成人中枢神经系统的干细胞潜能，并且是睾丸生殖细胞肿瘤的标志物。该基因的 3' UTR 包含一个名为“THE 1”的类转座子人类重复元件。该基因的加工 RNA 假基因位于染色体 6p22.1 上。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供，2016 年 4 月]

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 基因产物(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

基因本体论

分子功能

分子功能 GO 注释	逻辑证据	参考文献	来源
enables protein binding	IPI IPI: 通过物理相互作用推断	12717434	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

MCFD2 蛋白结构

EF-hand_7

0
100
146 a.a.

蛋白主名

其他名称

multiple coagulation factor deficiency protein 2

neural stem cell-derived neuronal survival protein

MCFD2 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	MCFD2	Q8NI22	P2RY6	Homo sapiens	Q15077	Y2H Prey Pooling	32296183
种属内	MCFD2	Q8NI22	P2RY6	Homo sapiens	Q15077	Y2H Array	32296183
种属内	MCFD2	Q8NI22	LMAN1	Homo sapiens	P49257	X-Ray Diffraction	20138881
种属内	MCFD2	Q8NI22	LMAN1	Homo sapiens	P49257	Anti Tag CoIP	33961781
种属内	MCFD2	Q8NI22	LMAN1	Homo sapiens	P49257	Anti Bait CoIP	16304051
种属内	MCFD2	Q8NI22	CMTM5	Homo sapiens	Q96DZ9-2	Validated Y2H	32296183
种属内	MCFD2	Q8NI22	LAMP2	Homo sapiens	P13473-2	Y2H Array	32814053
种属内	MCFD2	Q8NI22	LAMP2	Homo sapiens	P13473-2	Y2H Pooling	32814053
种属内	MCFD2	Q8NI22	LAMP2	Homo sapiens	P13473-2	Validated Y2H	32814053
种属间	MCFD2	Q8NI22	LMAN1	Chlorocebus aethiops	Q9TU32	Anti Bait CoIP	12717434
种属间	MCFD2	Q8NI22	LMAN1	Chlorocebus aethiops	Q9TU32	Anti Tag CoIP	12717434
种属内	MCFD2	Q8NI22	SH3GLB1	Homo sapiens	Q9Y371	Y2H Pooling	32814053
种属内	MCFD2	Q8NI22	SH3GLB1	Homo sapiens	Q9Y371	Validated Y2H	32814053
种属内	MCFD2	Q8NI22	SH3GLB1	Homo sapiens	Q9Y371	Y2H Array	32814053
种属内	MCFD2	Q8NI22	CCK	Homo sapiens	P06307	Y2H Pooling	32814053
种属内	MCFD2	Q8NI22	CCK	Homo sapiens	P06307	Validated Y2H	32814053
种属内	MCFD2	Q8NI22	CCK	Homo sapiens	P06307	Y2H Array	32814053

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS08224	MCFD2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 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

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