EFHD2
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
