Gene: SMIM40

Alternate names for this Gene: -

Gene Summary:

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.32

Description of this Gene: small integral membrane protein 40

Type of Gene: protein-coding

Gene: DAXX

Alternate names for this Gene: BING2|DAP6|EAP1|SMIM40

Gene Summary: This gene encodes a multifunctional protein that resides in multiple locations in the nucleus and in the cytoplasm. It interacts with a wide variety of proteins, such as apoptosis antigen Fas, centromere protein C, and transcription factor erythroblastosis virus E26 oncogene homolog 1. In the nucleus, the encoded protein functions as a potent transcription repressor that binds to sumoylated transcription factors. Its repression can be relieved by the sequestration of this protein into promyelocytic leukemia nuclear bodies or nucleoli. This protein also associates with centromeres in G2 phase. In the cytoplasm, the encoded protein may function to regulate apoptosis. The subcellular localization and function of this protein are modulated by post-translational modifications, including sumoylation, phosphorylation and polyubiquitination. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.32

Description of this Gene: death domain associated protein

Type of Gene: protein-coding

rs2073524 in SMIM40;DAXX gene and Rheumatoid Arthritis PMID 21156761 2011 A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis.