Gene: HMGXB3

Alternate names for this Gene: HMGX3|SMF

Gene Summary: This gene is one of the non-canonical high mobility group (HMG) genes. The encoded protein contains an HMG-box domain found in DNA binding proteins such as transcription factors and chromosomal proteins.

Gene is located in Chromosome: 5

Location in Chromosome : 5q32

Description of this Gene: HMG-box containing 3

Type of Gene: protein-coding

Gene: CSF1R

Alternate names for this Gene: BANDDOS|C-FMS|CD115|CSF-1R|CSFR|FIM2|FMS|HDLS|M-CSF-R

Gene Summary: The protein encoded by this gene is the receptor for colony stimulating factor 1, a cytokine which controls the production, differentiation, and function of macrophages. This receptor mediates most if not all of the biological effects of this cytokine. Ligand binding activates the receptor kinase through a process of oligomerization and transphosphorylation. The encoded protein is a tyrosine kinase transmembrane receptor and member of the CSF1/PDGF receptor family of tyrosine-protein kinases. Mutations in this gene have been associated with a predisposition to myeloid malignancy. The first intron of this gene contains a transcriptionally inactive ribosomal protein L7 processed pseudogene oriented in the opposite direction. Alternative splicing results in multiple transcript variants. Expression of a splice variant from an LTR promoter has been found in Hodgkin lymphoma (HL), HL cell lines and anaplastic large cell lymphoma.

Gene is located in Chromosome: 5

Location in Chromosome : 5q32

Description of this Gene: colony stimulating factor 1 receptor

Type of Gene: protein-coding

rs13117 in HMGXB3;CSF1R gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.