Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 3166
MIM: 142992
HGNC: 5017
Ensembl: ENSG00000215612
Variants:
dbSNP: 3166
ClinVar: 3166
TCGA: ENSG00000215612
COSMIC: HMX1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000215612 | ENST00000400677 | Q9NP08 |
| ENSG00000215612 | ENST00000506970 | F1T0J4 |
Expression (GTEx)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 32552830 | 2020 | Duplications involving the long range HMX1 enhancer are associated with human isolated bilateral concha-type microtia. | 4 |
| 32552830 | 2020 | Duplications involving the long range HMX1 enhancer are associated with human isolated bilateral concha-type microtia. | 4 |
| 29140751 | 2018 | Further delineation of the oculoauricular syndrome phenotype: A new family with a novel truncating HMX1 mutation. | 4 |
| 29140751 | 2018 | Further delineation of the oculoauricular syndrome phenotype: A new family with a novel truncating HMX1 mutation. | 4 |
| 21417677 | 2011 | Retinal dystrophy in the oculo-auricular syndrome due to HMX1 mutation. | 11 |
| 21417677 | 2011 | Retinal dystrophy in the oculo-auricular syndrome due to HMX1 mutation. | 11 |
| 18423520 | 2008 | Mutation in the human homeobox gene NKX5-3 causes an oculo-auricular syndrome. | 34 |
| 18423520 | 2008 | Mutation in the human homeobox gene NKX5-3 causes an oculo-auricular syndrome. | 34 |
Citation
Dessen P
HMX1 (H6 family homeobox 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/64355/hmx1-(h6-family-homeobox-1)
