Format

Send to:

Choose Destination

DEF6 DEF6 guanine nucleotide exchange factor [ Homo sapiens (human) ]

Gene ID: 50619, updated on 23-Nov-2021

Summary

Official Symbol
DEF6provided by HGNC
Official Full Name
DEF6 guanine nucleotide exchange factorprovided by HGNC
Primary source
HGNC:HGNC:2760
See related
Ensembl:ENSG00000023892 MIM:610094
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
IBP; SLAT; IMD87; SWAP70L
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]
Expression
Broad expression in lymph node (RPKM 23.3), bone marrow (RPKM 22.5) and 21 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See DEF6 in Genome Data Viewer
Location:
6p21.31
Exon count:
11
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (35297818..35321771)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (35265595..35289548)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101929285 Neighboring gene signal peptide, CUB domain and EGF like domain containing 3 Neighboring gene zinc finger protein 76 Neighboring gene Sharpr-MPRA regulatory region 9100 Neighboring gene peroxisome proliferator activated receptor delta Neighboring gene Sharpr-MPRA regulatory region 9405

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
IMMUNODEFICIENCY 87 AND AUTOIMMUNITY
MedGen: CN301078 OMIM: 619573 GeneReviews: Not available
not available
Many sequence variants affecting diversity of adult human height.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables guanyl-nucleotide exchange factor activity TAS
Traceable Author Statement
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in regulation of catalytic activity IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of small GTPase mediated signal transduction TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in filopodium IEA
Inferred from Electronic Annotation
more info
 
located_in membrane HDA PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
differentially expressed in FDCP 6 homolog
Names
DEF-6
IRF4-binding protein
SWAP-70-like adaptor protein of T cells

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_022047.4NP_071330.3  differentially expressed in FDCP 6 homolog

    See identical proteins and their annotated locations for NP_071330.3

    Status: VALIDATED

    Source sequence(s)
    AJ276095, AY241694, Z97832
    Consensus CDS
    CCDS4802.1
    UniProtKB/Swiss-Prot
    Q9H4E7
    Related
    ENSP00000319831.5, ENST00000316637.7
    Conserved Domains (2) summary
    cd13273
    Location:210319
    PH_SWAP-70; Switch-associated protein-70 Pleckstrin homology (PH) domain
    pfam00169
    Location:217312
    PH; PH domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    35297818..35321771
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center