EFHD2

• SHARE NOW |
• Tweet Opens in a new window.
• Pin it Opens in a new window.
• Share Opens in a new window.
• Share Opens in a new window.
• Email Opens in a new window.

---

Description

The EFHD2 (EF-hand domain family member D2) is a protein-coding gene located on chromosome 1.

EFHD2 is a gene that encodes a protein called EF-hand domain family member D2. This protein is found in humans.

EFHD2 may play a role in regulating apoptosis in immature and mature B cells after B-cell receptor stimulation. It acts as a negative regulator of the NF-kappa-B signaling pathway and controls spontaneous apoptosis by regulating the levels of the BCL2L1 protein.

EFHD2 is also known as SWS1.

Associated Diseases

• cancer
• common variable immunodeficiency
• isolated agammaglobulinemia
• immunodeficiency 72 with autoinflammation
• BENTA disease
• immunodeficiency 18
• hyper-IgM syndrome type 3
• hyper-IgM syndrome type 2
• combined immunodeficiency with skin granulomas
• immunodeficiency 62
• immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia
• immunodeficiency, common variable, 4
• severe combined immunodeficiency due to CTPS1 deficiency
• classic Hodgkin lymphoma
• T-B+ severe combined immunodeficiency due to JAK3 deficiency