The RAC2 gene homepage

General information
Gene symbol RAC2
Gene name ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)
Chromosome 22
Chromosomal band q13.1
Imprinted Unknown
Genomic reference NC_000022.10
Transcript reference NM_002872.4
Exon/intron information NM_002872.4 exon/intron table
Associated with diseases IMD73A, IMD73B, IMD73C
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 23
Unique public DNA variants reported 17
Individuals with public variants 20
Hidden variants 0
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome.
Date created September 13, 2012
Date last updated November 01, 2022
Version RAC2:221101

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_002872.4.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL https://www.LOVD.nl/RAC2
HGNC 9802
Entrez Gene 5880
PubMed articles RAC2
OMIM - Gene 602049
OMIM - Diseases IMD73A (immunodeficiency, type 73A, with defective neutrophil chemotaxix and leukocytosis)
IMD73B (immunodeficiency, type 73B, with defective neutrophil chemotaxis and lymphopenia)
IMD73C (immunodeficiency, type 73C, with defective neutrophil chemotaxix and leukocytosis)
HGMD RAC2
GeneCards RAC2
GeneTests RAC2
Orphanet RAC2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00025723 22 ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2) NM_002872.4 NP_002863.1 23


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