HMX1 (H6 family homeobox 1)

2014-11-01 Affiliation

Identity

HGNC

HMX1

LOCATION

4p16.1

LOCUSID

3166

ALIAS

H6,NKX5-3

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)

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 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