Gene: IGFLR1

Alternate names for this Gene: TMEM149

Gene Summary:

Gene is located in Chromosome: 19

Location in Chromosome : 19q13.12

Description of this Gene: IGF like family receptor 1

Type of Gene: protein-coding

Gene: KMT2B

Alternate names for this Gene: CXXC10|DYT28|HRX2|MLL1B|MLL2|MLL4|TRX2|WBP-7|WBP7

Gene Summary: This gene encodes a protein which contains multiple domains including a CXXC zinc finger, three PHD zinc fingers, two FY-rich domains, and a SET (suppressor of variegation, enhancer of zeste, and trithorax) domain. The SET domain is a conserved C-terminal domain that characterizes proteins of the MLL (mixed-lineage leukemia) family. This gene is ubiquitously expressed in adult tissues. It is also amplified in solid tumor cell lines, and may be involved in human cancer. Two alternatively spliced transcript variants encoding distinct isoforms have been reported for this gene, however, the full length nature of the shorter transcript is not known.

Gene is located in Chromosome: 19

Location in Chromosome : 19q13.12

Description of this Gene: lysine methyltransferase 2B

Type of Gene: protein-coding

rs12459634 in IGFLR1;KMT2B gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs1555735051 in IGFLR1;KMT2B gene and DYSTONIA 28, CHILDHOOD-ONSET PMID 27992417 2017 Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

PMID 27839873 2016 Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia.

rs12459634 in IGFLR1;KMT2B gene and Lymphocyte Count measurement PMID 22286170 2012 The combination of a genome-wide association study of lymphocyte count and analysis of gene expression data reveals novel asthma candidate genes.