Gene symbol: MEIS2
Gene name: Meis homeobox 2
Locus type: gene with protein product
HGNC ID: 7001 https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7001
NCBI Gene ID: 4212 https://www.ncbi.nlm.nih.gov/gene/4212
Ensembl: ENSG00000134138 http://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000134138;r=15:36889204-37101299
RefSeq: NM_170677 https://www.ncbi.nlm.nih.gov/nuccore/NM_170677
UniProt: O14770 https://www.uniprot.org/uniprot/O14770
Previous names: Meis (mouse) homolog 2, Meis1, myeloid ecotropic viral integration site 1 homolog 2 (mouse)
Alias symbols: MRG1, HsT18361
Chromosomal location: 15q14
Gene groups: TALE class homeoboxes and pseudogenes. MicroRNA protein coding host genes
The MEIS2 gene encodes a homeobox protein belonging to the TALE ('three amino acid loop extension') family of homeodomain-containing proteins. TALE homeobox proteins are highly conserved transcription regulators, and several members have been shown to be essential contributors to developmental programs. Multiple transcript variants encoding distinct isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
Research conducted in various model organisms showed that MEIS2 is necessary for the correct formation of many tissues and organs during embryogenesis. Among others, MEIS2 participates in the development of the heart, face (including closure of the palate), brain, eye, ear, as well as limbs and extremities. MEIS2 is also critically involved in maintaining the proper function of several of these organ systems after birth [see publications page].
Pathogenic variants in MEIS2 are commonly truncating and rarely missense variants expected to result in loss of function (haploinsufficiency). A number of published variants, including missense variants, are in the functionally important homeodomain of MEIS2. Most of the published individuals have been identified by exome sequencing but could also be detected by sequencing panels that include the MEIS2 gene.
MEIS2