DEF6 - DEF6 guanine nucleotide exchange factor Gene

中文名称：DEF6 鸟嘌呤核苷酸交换因子

种属: Homo sapiens

同用名: IBP; SLAT; IMD87; SWAP70L

基因 ID: 50619 | 基因类型: protein coding

关于 DEF6

Cytogenetic location: 6p21.31 Genomic coordinates (GRCh38): 6:35,297,818-35,321,771 (from NCBI)

This gene has 6 transcripts (splice variants), 229 orthologues, 2 paralogues and is associated with 1 phenotype. Broad expression in lymph node (RPKM 23.3), bone marrow (RPKM 22.5) and 21 other tissues.

功能概要

DEF6 或 IBP 是 RAC (MIM 602048) 和 CDC42 (MIM 116952) 的鸟嘌呤核苷酸交换因子 (GEF) ，在 B 细胞和 T 细胞中高度表达 (Gupta 等人，2003 [PubMed 12923183]) 。[已提供 OMIM，2008 年 3 月]

DEF6, or IBP, is a guanine nucleotide exchange factor (GEF) for RAC (MIM 602048) and CDC42 (MIM 116952) that is highly expressed in B and T cells (Gupta et al., 2003 [PubMed 12923183]).[supplied by OMIM, Mar 2008]

DEF6 基因产物(1)

mRNA	Protein	Name
NM_022047.4	NP_071330.3	differentially expressed in FDCP 6 homolog

DEF6 蛋白结构

0
100
200
300
400
500
631 a.a.

蛋白主名

其他名称

differentially expressed in FDCP 6 homolog

DEF-6

DEF6 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
Intra	DEF6	Q9H4E7	HOMEZ	Homo sapiens	Q8IX15-3	Validated Y2H	25416956
Intra	DEF6	Q9H4E7	PTK2	Homo sapiens	I6L996	Validated Y2H	25416956
Intra	DEF6	Q9H4E7	PTK2	Homo sapiens	I6L996	Y2H Array	25416956
Intra	DEF6	Q9H4E7	PTK2	Homo sapiens	I6L996	Y2H Array	32296183
Intra	DEF6	Q9H4E7	PTK2	Homo sapiens	I6L996	Y2H Prey Pooling	25416956
Intra	DEF6	Q9H4E7	PTK2	Homo sapiens	I6L996	Y2H Prey Pooling	32296183
Intra	DEF6	Q9H4E7	SAP18	Homo sapiens	O00422	Y2H Array	32296183
Intra	DEF6	Q9H4E7	SAP18	Homo sapiens	O00422	Y2H Prey Pooling	32296183
Intra	DEF6	Q9H4E7	REL	Homo sapiens	Q04864-2	Y2H Prey Pooling	32296183
Intra	DEF6	Q9H4E7	REL	Homo sapiens	Q04864-2	Y2H Array	32296183
Intra	DEF6	Q9H4E7	TEPSIN	Homo sapiens	Q96N21	Y2H Prey Pooling	32296183
Intra	DEF6	Q9H4E7	TEPSIN	Homo sapiens	Q96N21	Y2H Array	32296183
Intra	DEF6	Q9H4E7	GOLGA6A	Homo sapiens	Q9NYA3	Validated Y2H	32296183
Intra	DEF6	Q9H4E7	GOLGA6A	Homo sapiens	Q9NYA3	Y2H Prey Pooling	32296183
Intra	DEF6	Q9H4E7	GOLGA6A	Homo sapiens	Q9NYA3	Y2H Array	32296183
Intra	DEF6	Q9H4E7	L3MBTL3	Homo sapiens	Q96JM7-2	Y2H Array	32296183
Intra	DEF6	Q9H4E7	L3MBTL3	Homo sapiens	Q96JM7-2	Y2H Prey Pooling	32296183
Intra	DEF6	Q9H4E7	ARHGAP22	Homo sapiens	Q7Z5H3-2	Y2H Prey Pooling	32296183
Intra	DEF6	Q9H4E7	ARHGAP22	Homo sapiens	Q7Z5H3-2	Y2H Array	32296183
Intra	DEF6	Q9H4E7	EIF4ENIF1	Homo sapiens	Q9NRA8	Y2H Array	25416956
Intra	DEF6	Q9H4E7	EIF4ENIF1	Homo sapiens	Q9NRA8	Y2H Prey Pooling	25416956
Intra	DEF6	Q9H4E7	EIF4ENIF1	Homo sapiens	Q9NRA8	Validated Y2H	25416956
Intra	DEF6	Q9H4E7	KIAA1328	Homo sapiens	Q86T90	Y2H Prey Pooling	32296183
Intra	DEF6	Q9H4E7	KIAA1328	Homo sapiens	Q86T90	Y2H Array	32296183
Intra	DEF6	Q9H4E7	RASAL3	Homo sapiens	Q86YV0	Y2H Prey Pooling	32296183
Intra	DEF6	Q9H4E7	RASAL3	Homo sapiens	Q86YV0	Y2H Array	32296183
Intra	DEF6	Q9H4E7	CCDC88B	Homo sapiens	A6NC98	Y2H Array	32296183
Intra	DEF6	Q9H4E7	CCDC88B	Homo sapiens	A6NC98	Y2H Prey Pooling	32296183
Intra	DEF6	Q9H4E7	PSMA1	Homo sapiens	P25786	Y2H Prey Pooling	32296183
Intra	DEF6	Q9H4E7	PSMA1	Homo sapiens	P25786	Y2H Array	32296183
Intra	DEF6	Q9H4E7	ZNF688	Homo sapiens	P0C7X2	Y2H Prey Pooling	32296183
Intra	DEF6	Q9H4E7	ZNF688	Homo sapiens	P0C7X2	Y2H Array	32296183
Intra	DEF6	Q9H4E7	TCF4	Homo sapiens	P15884	Y2H Array	31515488
Intra	DEF6	Q9H4E7	TCF4	Homo sapiens	P15884	Validated Y2H	25416956
Intra	DEF6	Q9H4E7	GOLGA6L9	Homo sapiens	A6NEM1	Y2H Array	32296183
Intra	DEF6	Q9H4E7	GOLGA6L9	Homo sapiens	A6NEM1	Y2H Prey Pooling	32296183
Intra	DEF6	Q9H4E7	INCA1	Homo sapiens	Q0VD86	Y2H Prey Pooling	32296183
Intra	DEF6	Q9H4E7	INCA1	Homo sapiens	Q0VD86	Y2H Array	32296183
Intra	DEF6	Q9H4E7	PBXIP1	Homo sapiens	Q96AQ6	Y2H Prey Pooling	25416956
Intra	DEF6	Q9H4E7	CDC42EP1	Homo sapiens	Q00587	Y2H Array	25416956
Intra	DEF6	Q9H4E7	CDC42EP1	Homo sapiens	Q00587	Y2H Prey Pooling	25416956
Intra	DEF6	Q9H4E7	SLU7	Homo sapiens	O95391	Y2H Array	32296183
Intra	DEF6	Q9H4E7	SLU7	Homo sapiens	O95391	Y2H Prey Pooling	32296183
Intra	DEF6	Q9H4E7	INTS2	Homo sapiens	Q9H0H0	Y2H Prey Pooling	32296183
Intra	DEF6	Q9H4E7	INTS2	Homo sapiens	Q9H0H0	Y2H Array	32296183
Intra	DEF6	Q9H4E7	KRT31	Homo sapiens	Q15323	Y2H Array	32296183
Intra	DEF6	Q9H4E7	KRT31	Homo sapiens	Q15323	Y2H Prey Pooling	32296183

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

Immunodeficiency 87 And Autoimmunity

IMD87

Immunodeficiency 60

Bach2-Related Immunodeficiency And Autoimmunity	Brida
Imd60

Hemolytic Anemia

Anemia, Hemolytic	Anemia Hemolytic
Anaemia Due To Other Disorders Of Glutathione Metabolism	Chronic Non Spherocytic Anaemia
G6pd - [Glucose-6-Phosphate Dehydrogenase Deficiency] Anaemia	Anaemia Due To Glucose-6-Phosphate Dehydrogenase Deficiency
Glucose-6-Phosphate Dehydrogenase Deficiency With Anaemia	Glucose-6-Phosphate Dehydrogenase Deficiency Anaemia
Favism Anaemia	Haemolytic Anaemia Due Tog6pd Deficiency
Favism	Pentose Phosphate Pathway Disorder Anaemia
Anaemia Due To Pentose Phosphate Pathway Defect

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-RS03671	DEF6 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Bos taurus	DEF6	VGNC	VGNC:27986
Macaca mulatta	DEF6	VGNC	VGNC:71769
Felis catus	DEF6	VGNC	VGNC:61425
Canis familiaris	DEF6	VGNC	VGNC:39874
Rattus norvegicus	DEF6	RGD	RGD:1307945
Mus musculus	DEF6	MGD	MGI:1346328

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