NKX6-2 (NK6 homeobox 2)

2014-11-01  

Identity

HGNC
NKX6-2
LOCATION
10q26.3
LOCUSID
84504
ALIAS
GTX,NKX6.2,NKX6B,SPAX8

Other Information

Locus ID:

NCBI: 84504
MIM: 605955
HGNC: 19321
Ensembl: ENSG00000148826

Variants:

dbSNP: 84504
ClinVar: 84504
TCGA: ENSG00000148826
COSMIC: NKX6-2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000148826ENST00000368592Q9C056

Expression (GTEx)

0
50
100
150
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
285756512017Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination.8
289693742017Biallelic mutations in the homeodomain of NKX6-2 underlie a severe hypomyelinating leukodystrophy.7
293886732018Expanding the clinical and genetic spectra of NKX6-2-related disorder.1

Citation

Dessen P

NKX6-2 (NK6 homeobox 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70860/nkx6-2