1. Gene
  2. DEF6 - DEF6 guanine nucleotide exchange factor Gene

DEF6 - DEF6 guanine nucleotide exchange factor Gene

Homo sapiens

Also known as IBP; SLAT; IMD87; SWAP70L

Gene ID: 50619 | Gene type: protein coding

About 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.

Summary

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 Products(1)

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

DEF6 Protein Structure

PH

PH: PH domain (218 - 311)

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  • 631 a.a.
Protein Preferred Names Protein Names

differentially expressed in FDCP 6 homolog

DEF-6

DEF6 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
DEF6 Q9H4E7 HOMEZ Homo sapiens Q8IX15-3 25416956
Intra
DEF6 Q9H4E7 PTK2 Homo sapiens I6L996 25416956
Intra
DEF6 Q9H4E7 PTK2 Homo sapiens I6L996 25416956
Intra
DEF6 Q9H4E7 PTK2 Homo sapiens I6L996 32296183
Intra
DEF6 Q9H4E7 PTK2 Homo sapiens I6L996 25416956
Intra
DEF6 Q9H4E7 PTK2 Homo sapiens I6L996 32296183
Intra
DEF6 Q9H4E7 SAP18 Homo sapiens O00422 32296183
Intra
DEF6 Q9H4E7 SAP18 Homo sapiens O00422 32296183
Intra
DEF6 Q9H4E7 REL Homo sapiens Q04864-2 32296183
Intra
DEF6 Q9H4E7 REL Homo sapiens Q04864-2 32296183
Intra
DEF6 Q9H4E7 TEPSIN Homo sapiens Q96N21 32296183
Intra
DEF6 Q9H4E7 TEPSIN Homo sapiens Q96N21 32296183
Intra
DEF6 Q9H4E7 GOLGA6A Homo sapiens Q9NYA3 32296183
Intra
DEF6 Q9H4E7 GOLGA6A Homo sapiens Q9NYA3 32296183
Intra
DEF6 Q9H4E7 GOLGA6A Homo sapiens Q9NYA3 32296183
Intra
DEF6 Q9H4E7 L3MBTL3 Homo sapiens Q96JM7-2 32296183
Intra
DEF6 Q9H4E7 L3MBTL3 Homo sapiens Q96JM7-2 32296183
Intra
DEF6 Q9H4E7 ARHGAP22 Homo sapiens Q7Z5H3-2 32296183
Intra
DEF6 Q9H4E7 ARHGAP22 Homo sapiens Q7Z5H3-2 32296183
Intra
DEF6 Q9H4E7 EIF4ENIF1 Homo sapiens Q9NRA8 25416956
Intra
DEF6 Q9H4E7 EIF4ENIF1 Homo sapiens Q9NRA8 25416956
Intra
DEF6 Q9H4E7 EIF4ENIF1 Homo sapiens Q9NRA8 25416956
Intra
DEF6 Q9H4E7 KIAA1328 Homo sapiens Q86T90 32296183
Intra
DEF6 Q9H4E7 KIAA1328 Homo sapiens Q86T90 32296183
Intra
DEF6 Q9H4E7 RASAL3 Homo sapiens Q86YV0 32296183
Intra
DEF6 Q9H4E7 RASAL3 Homo sapiens Q86YV0 32296183
Intra
DEF6 Q9H4E7 CCDC88B Homo sapiens A6NC98 32296183
Intra
DEF6 Q9H4E7 CCDC88B Homo sapiens A6NC98 32296183
Intra
DEF6 Q9H4E7 PSMA1 Homo sapiens P25786 32296183
Intra
DEF6 Q9H4E7 PSMA1 Homo sapiens P25786 32296183
Intra
DEF6 Q9H4E7 ZNF688 Homo sapiens P0C7X2 32296183
Intra
DEF6 Q9H4E7 ZNF688 Homo sapiens P0C7X2 32296183
Intra
DEF6 Q9H4E7 TCF4 Homo sapiens P15884 31515488
Intra
DEF6 Q9H4E7 TCF4 Homo sapiens P15884 25416956
Intra
DEF6 Q9H4E7 GOLGA6L9 Homo sapiens A6NEM1 32296183
Intra
DEF6 Q9H4E7 GOLGA6L9 Homo sapiens A6NEM1 32296183
Intra
DEF6 Q9H4E7 INCA1 Homo sapiens Q0VD86 32296183
Intra
DEF6 Q9H4E7 INCA1 Homo sapiens Q0VD86 32296183
Intra
DEF6 Q9H4E7 PBXIP1 Homo sapiens Q96AQ6 25416956
Intra
DEF6 Q9H4E7 CDC42EP1 Homo sapiens Q00587 25416956
Intra
DEF6 Q9H4E7 CDC42EP1 Homo sapiens Q00587 25416956
Intra
DEF6 Q9H4E7 SLU7 Homo sapiens O95391 32296183
Intra
DEF6 Q9H4E7 SLU7 Homo sapiens O95391 32296183
Intra
DEF6 Q9H4E7 INTS2 Homo sapiens Q9H0H0 32296183
Intra
DEF6 Q9H4E7 INTS2 Homo sapiens Q9H0H0 32296183
Intra
DEF6 Q9H4E7 KRT31 Homo sapiens Q15323 32296183
Intra
DEF6 Q9H4E7 KRT31 Homo sapiens Q15323 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
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

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

Orthologs Information

Species Symbol Source 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