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

    Gene ID: 50619, updated on 3-Dec-2024

    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; AllianceGenome:HGNC:2760
    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
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (35297818..35321771)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (35120899..35144853)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (35265595..35289548)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene SCUBE3 antisense RNA 1 Neighboring gene signal peptide, CUB domain and EGF like domain containing 3 Neighboring gene Sharpr-MPRA regulatory region 1078 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17085 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:35211069-35212268 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24396 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17086 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17087 Neighboring gene zinc finger protein 76 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:35253595-35254794 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:35263932-35264096 Neighboring gene Sharpr-MPRA regulatory region 9100 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24398 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:35280323-35280822 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17088 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17089 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17090 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17091 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24399 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:35328305-35329201 Neighboring gene peroxisome proliferator activated receptor delta Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24400 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24401 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24402 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:35351066-35351668 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:35359676-35360244 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24403 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24404 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:35378432-35378965 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:35378966-35379498 Neighboring gene Sharpr-MPRA regulatory region 9405 Neighboring gene makorin ring finger protein 6, pseudogene

    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: C5562070 OMIM: 619573 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Many sequence variants affecting diversity of adult human height.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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
     
    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
      Q86VF4, Q9H4E7
      UniProtKB/TrEMBL
      B2RBP7
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_047418838.1XP_047274794.1  differentially expressed in FDCP 6 homolog isoform X1

      UniProtKB/TrEMBL
      H0Y7V7

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      35120899..35144853
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054355531.1XP_054211506.1  differentially expressed in FDCP 6 homolog isoform X1

      UniProtKB/TrEMBL
      H0Y7V7