Gene: DEF6

Alternate names for this Gene: IBP|SLAT|SWAP70L

Gene 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]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AY241694.1, SRR1163658.502397.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000316637.7/ ENSP00000319831.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END##

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.31

Description of this Gene: DEF6 guanine nucleotide exchange factor

Type of Gene: protein-coding

rs16874262 in DEF6 gene and Height PMID 21998595 2011 Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.

rs9380500 in DEF6 gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.