MEIS2 Chromosome 15
Meis homeobox 2
Upload your DNA to see your personal genotypes for variants in MEIS2.
What This Gene Does
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, Jul 2008]
Gene Info
Gene Group
"TALE class homeoboxes and pseudogenes|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
15q14
Ensembl
ENSG00000134138
Associated Conditions (7)
Cardiac malformation
cleft lip/palate
microcephaly
and digital anomalies
Inborn genetic diseases
MEIS2-related disorder
Cleft palate
Key Variants
RS534636474
Conflicting classifications of pathogenicity
Cardiac malformation, cleft lip/palate, microcephaly
Health Risk
RS1064793383
Likely pathogenic
Cardiac malformation, cleft lip/palate, microcephaly
Health Risk
RS1064796723
Likely pathogenic
Health Risk
RS1385058993
Likely pathogenic
Cardiac malformation, cleft lip/palate, microcephaly
Health Risk
RS1892542522
Likely pathogenic
Health Risk
RS1892547180
Likely pathogenic
Health Risk
RS2058712732
Likely pathogenic
Cardiac malformation, cleft lip/palate, microcephaly
Health Risk
RS2141225080
Likely pathogenic
Cardiac malformation, cleft lip/palate, microcephaly
Health Risk
RS2141389688
Likely pathogenic
Cardiac malformation, cleft lip/palate, microcephaly
Health Risk
RS2141389703
Likely pathogenic
Cardiac malformation, cleft lip/palate, microcephaly
Health Risk
RS2504250471
Likely pathogenic
Cardiac malformation, cleft lip/palate, microcephaly
Health Risk
RS2504250485
Likely pathogenic
Health Risk
All Variants (35)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS534636474 | Health Risk | Conflicting classifications of pathogenicity | Cardiac malformation, cleft lip/palate, microcephaly |
| RS1064793383 | Health Risk | Likely pathogenic | Cardiac malformation, cleft lip/palate, microcephaly |
| RS1064796723 | Health Risk | Likely pathogenic | — |
| RS1385058993 | Health Risk | Likely pathogenic | Cardiac malformation, cleft lip/palate, microcephaly |
| RS1892542522 | Health Risk | Likely pathogenic | — |
| RS1892547180 | Health Risk | Likely pathogenic | — |
| RS2058712732 | Health Risk | Likely pathogenic | Cardiac malformation, cleft lip/palate, microcephaly |
| RS2141225080 | Health Risk | Likely pathogenic | Cardiac malformation, cleft lip/palate, microcephaly |
| RS2141389688 | Health Risk | Likely pathogenic | Cardiac malformation, cleft lip/palate, microcephaly |
| RS2141389703 | Health Risk | Likely pathogenic | Cardiac malformation, cleft lip/palate, microcephaly |
| RS2504250471 | Health Risk | Likely pathogenic | Cardiac malformation, cleft lip/palate, microcephaly |
| RS2504250485 | Health Risk | Likely pathogenic | — |
| RS2504250536 | Health Risk | Likely pathogenic | Cardiac malformation, cleft lip/palate, microcephaly |
| RS2504536056 | Health Risk | Likely pathogenic | Cardiac malformation, cleft lip/palate, microcephaly |
| RS2504981401 | Health Risk | Likely pathogenic | Cardiac malformation, cleft lip/palate, microcephaly |
| RS2505227410 | Health Risk | Likely pathogenic | Cardiac malformation, cleft lip/palate, microcephaly |
| RS2505246796 | Health Risk | Likely pathogenic | MEIS2-related disorder, MEIS2-related disorder |
| RS367563077 | Health Risk | Likely pathogenic | Cardiac malformation, cleft lip/palate, microcephaly |
| RS1555418998 | Health Risk | Pathogenic | — |
| RS1555456994 | Health Risk | Pathogenic | Cardiac malformation, cleft lip/palate, microcephaly |
| RS1555471981 | Health Risk | Pathogenic | Inborn genetic diseases, Cardiac malformation, cleft lip/palate |
| RS1567294240 | Health Risk | Pathogenic | — |
| RS2140088419 | Health Risk | Pathogenic | Cardiac malformation, cleft lip/palate, microcephaly |
| RS2141225123 | Health Risk | Pathogenic | Cardiac malformation, cleft lip/palate, microcephaly |
| RS2141389679 | Health Risk | Pathogenic | Cardiac malformation, cleft lip/palate, microcephaly |
| RS2141917789 | Health Risk | Pathogenic | Cardiac malformation, cleft lip/palate, microcephaly |
| RS2504250511 | Health Risk | Pathogenic | — |
| RS2504535639 | Health Risk | Pathogenic | — |
| RS2505270713 | Health Risk | Pathogenic | Cardiac malformation, cleft lip/palate, microcephaly |
| RS2505271040 | Health Risk | Pathogenic | — |
| RS749346955 | Health Risk | Pathogenic | Cardiac malformation, cleft lip/palate, microcephaly |
| RS1595790647 | Health Risk | Pathogenic/Likely pathogenic | Cardiac malformation, cleft lip/palate, microcephaly |
| RS2141389824 | Health Risk | Pathogenic/Likely pathogenic | Cardiac malformation, cleft lip/palate, microcephaly |
| RS2141918318 | Health Risk | Pathogenic/Likely pathogenic | Cardiac malformation, cleft lip/palate, microcephaly |
| RS879255264 | Health Risk | Pathogenic/Likely pathogenic | Cardiac malformation, cleft lip/palate, microcephaly |