HMX3 (H6 family homeobox 3)

2014-11-01  

Identity

HGNC
HMX3
LOCATION
10q26.13
LOCUSID
340784
ALIAS
NKX-5.1,NKX5.1,Nkx5-1

Other Information

Locus ID:

NCBI: 340784
MIM: 613380
HGNC: 5019
Ensembl: ENSG00000188620

Variants:

dbSNP: 340784
ClinVar: 340784
TCGA: ENSG00000188620
COSMIC: HMX3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000188620ENST00000357878A6NHT5

Expression (GTEx)

0
1
2
3
4
5
6
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
192533792009Molecular (SNP) analyses of overlapping hemizygous deletions of 10q25.3 to 10qter in four patients: evidence for HMX2 and HMX3 as candidate genes in hearing and vestibular function.14
227797132012Mutation analysis of Netrin 1 and HMX3 genes in patients with superior semicircular canal dehiscence syndrome.1

Citation

Dessen P

HMX3 (H6 family homeobox 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64357/hmx3