HMX1 (H6 family homeobox 1)

2014-11-01  

Identity

HGNC
HMX1
LOCATION
4p16.1
LOCUSID
3166
ALIAS
H6,NKX5-3

Other Information

Locus ID:

NCBI: 3166
MIM: 142992
HGNC: 5017
Ensembl: ENSG00000215612

Variants:

dbSNP: 3166
ClinVar: 3166
TCGA: ENSG00000215612
COSMIC: HMX1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000215612ENST00000400677Q9NP08
ENSG00000215612ENST00000506970F1T0J4

Expression (GTEx)

0
1
2
3
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

References

Pubmed IDYearTitleCitations
184235202008Mutation in the human homeobox gene NKX5-3 causes an oculo-auricular syndrome.27
214176772011Retinal dystrophy in the oculo-auricular syndrome due to HMX1 mutation.9
291407512018Further delineation of the oculoauricular syndrome phenotype: A new family with a novel truncating HMX1 mutation.2

Citation

Dessen P

HMX1 (H6 family homeobox 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64355/hmx1