Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5880
Gene name Gene Name - the full gene name approved by the HGNC.
Rac family small GTPase 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RAC2
Synonyms (NCBI Gene) Gene synonyms aliases
EN-7, Gx, HSPC022, IMD73A, IMD73B, IMD73C, p21-Rac2
Disease Acronyms (UniProt) Disease acronyms from UniProt database
IMD73A, IMD73B, IMD73C
Chromosome Chromosome number
22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q13.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the Ras superfamily of small guanosine triphosphate (GTP)-metabolizing proteins. The encoded protein localizes to the plasma membrane, where it regulates diverse processes, such as secretion, phagocytosis, and cell polarizati
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs74315507 C>T Pathogenic Coding sequence variant, missense variant
rs1555908409 C>T Pathogenic, likely-pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT016574 hsa-miR-193b-3p Microarray 20304954
MIRT755715 hsa-miR-1246 Western blotting, RNA-seq 38287447
MIRT1287073 hsa-miR-103a CLIP-seq
MIRT1287074 hsa-miR-107 CLIP-seq
MIRT1287075 hsa-miR-122 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003924 Function GTPase activity IBA 21873635
GO:0005515 Function Protein binding IPI 22106281, 22949657, 32296183
GO:0005525 Function GTP binding IBA 21873635
GO:0005525 Function GTP binding IMP 19625648
GO:0005635 Component Nuclear envelope IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602049 9802 ENSG00000128340
Protein
UniProt ID P15153
Protein name Ras-related C3 botulinum toxin substrate 2 (EC 3.6.5.2) (GX) (Small G protein) (p21-Rac2)
Protein function Plasma membrane-associated small GTPase which cycles between an active GTP-bound and inactive GDP-bound state (PubMed:30723080). In its active state, binds to a variety of effector proteins to regulate cellular responses, such as secretory proce
PDB 1DS6 , 2W2T , 2W2V , 2W2X
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00071 Ras 5 178 Ras family Domain
Tissue specificity TISSUE SPECIFICITY: Hematopoietic specific.
Sequence
Sequence length 192
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Immunodeficiency immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia, immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia GenCC
Neutrophil Immunodeficiency Syndrome neutrophil immunodeficiency syndrome GenCC
Celiac disease Celiac disease GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma Associate 30720096
Arthritis Rheumatoid Associate 17897462, 27626941, 32013628, 39980031
Atherosclerosis Associate 34122426, 35937806
Bacterial Infections Associate 38194689
Bone Marrow Diseases Associate 31919089
Breast Neoplasms Associate 23591873, 32044879, 35233733
Carcinogenesis Stimulate 39596003
Carcinoma Hepatocellular Associate 23728943
Carcinoma Renal Cell Associate 28029655, 36854280, 39596003
Carcinoma Renal Cell Stimulate 31364727