LAD with RAC2 deficiency

Gene Information

Names

HUGO name: RAC2

Alias(es):

  • EN-7
  • Gx
  • HSPC022
  • Ras-related C3 botulinum toxin substrate 2
  • Ras-related C3 botulinum toxin substrate 3 (rho family, small GTP-binding protein Rac2)
  • Ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)
  • Rho family, small GTP binding protein Rac2
  • Small G protein
  • Ras-related C3 botulinum toxin substrate 2
  • p21-Rac2
  • Small G protein

Localization

Reference sequences

Chromosomal location

Maps

Markers

Protein Information

Description

Protein function:

Plasma membrane-associated small GTPase which cycles between an active GTP-bond and inactive GDP-bound state. In active state binds to a variety of effector proteins to regulate cellular responses, such as secretory processes, phagocytose of apoptotic cells and epithelial cell polarization. Seems to be involved in the regulation of the NADPH oxidase.

Subunit:

Interacts with DOCK2, which may activate it.

Subcellular location:

Cytoplasmic; membrane-associated when activated.

Enzyme regulation:

Regulated by guanine nucleotide exchange factors (GEFS) which promote the exchange of bound GDP for free GTP, GTPase activating proteins (gaps) which increase the GTP hydrolysis activity, and GDP dissociation inhibitors which inhibit the dissociation of the nucleotide from the GTPase.

Tissue specificity:

Hematopoietic specific

Similarity:

Belongs to the small GTPase superfamily. Rho family

Structures (PDB)

1DS6 Crystal Structure Of A Rac-Rhogdi Complex

Domains

Effector region domain: 32-40

    Other features

    GTP nucleotide phosphate-binding region: 10-17

      GTP nucleotide phosphate-binding region: 57-61

        GTP nucleotide phosphate-binding region: 115-118

          Other related resourses:

          Expression

          Expression pattern for human

          Tissue Expression (%) Clones
          periph blood 72.49 1:19
          nasopharyngeal carcinoma 2.11 1:654
          invasive tumor (cell line) 1.81 1:761
          primary B-cells from tonsils (cell line) 1.71 20:16102
          lymphoma, follicular mixed small and large cell 1.46 9:8495
          leukocyte 1.25 8:8838
          T cells (Jurkat cell line) 1.15 2:2387
          lung focal fibrosis 1.06 3:3912
          natural killer cells, cell line 1.01 4:5480
          lymphoma, cell line 0.96 21:30144
          periph blood 72.49 1:19
          nasopharyngeal carcinoma 2.11 1:654
          invasive tumor (cell line) 1.81 1:761
          primary B-cells from tonsils (cell line) 1.71 20:16102
          lymphoma, follicular mixed small and large cell 1.46 9:8495
          leukocyte 1.25 8:8838
          T cells (Jurkat cell line) 1.15 2:2387
          lung focal fibrosis 1.06 3:3912
          natural killer cells, cell line 1.01 4:5480
          lymphoma, cell line 0.96 21:30144

          Animal models

          Mouse