MEIS2

This 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]

Full Name

MEIS2

Function

Involved in transcriptional regulation. Binds to HOX or PBX proteins to form dimers, or to a DNA-bound dimer of PBX and HOX proteins and thought to have a role in stabilization of the homeoprotein-DNA complex. Isoform 3 is required for the activity of a PDX1:PBX1b:MEIS2b complex in pancreatic acinar cells involved in the transcriptional activation of the ELA1 enhancer; the complex binds to the enhancer B element and cooperates with the transcription factor 1 complex (PTF1) bound to the enhancer A element; MEIS2 is not involved in complex DNA-binding. Probably in complex with PBX1, is involved in transcriptional regulation by KLF4. Isoform 3 and isoform 4 can bind to a EPHA8 promoter sequence containing the DNA motif 5'-CGGTCA-3'; in cooperation with a PBX protein (such as PBX2) is proposed to be involved in the transcriptional activation of EPHA8 in the developing midbrain. May be involved in regulation of myeloid differentiation. Can bind to the DNA sequence 5'-TGACAG-3'in the activator ACT sequence of the D(1A) dopamine receptor (DRD1) promoter and activate DRD1 transcription; isoform 5 cannot activate DRD1 transcription.

Biological Process

Animal organ morphogenesis Source: GO_Central
Brain development Source: GO_Central
Embryonic pattern specification Source: GO_Central
Eye development Source: GO_Central
Negative regulation of myeloid cell differentiation Source: UniProtKB
Negative regulation of transcription by RNA polymerase II Source: ProtInc
Pancreas development Source: Ensembl
Positive regulation of cardiac muscle myoblast proliferation Source: BHF-UCL
Positive regulation of cell population proliferation Source: GO_Central
Positive regulation of mitotic cell cycle Source: BHF-UCL
Positive regulation of transcription by RNA polymerase II Source: NTNU_SB
Regulation of transcription by RNA polymerase II Source: GO_Central
Response to growth factor Source: Ensembl
Response to mechanical stimulus Source: Ensembl
Visual learning Source: Ensembl

Cellular Location

Nucleus
Other locations
perinuclear region

Involvement in disease

Cleft palate, cardiac defects, and mental retardation (CPCMR):
An autosomal dominant disease characterized by multiple congenital malformations, mild-to-severe intellectual disability with poor speech, and delayed psychomotor development. Congenital malformations include heart defects, cleft lip/palate, distally-placed thumbs and toes, and cutaneous syndactyly between the second and third toes.