RAX2 (retina and anterior neural fold homeobox 2)

2014-11-01  

Identity

HGNC
RAX2
LOCATION
19p13.3
LOCUSID
84839
ALIAS
ARMD6,CORD11,QRX,RAXL1

Other Information

Locus ID:

NCBI: 84839
MIM: 610362
HGNC: 18286
Ensembl: ENSG00000173976

Variants:

dbSNP: 84839
ClinVar: 84839
TCGA: ENSG00000173976
COSMIC: RAX2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000173976ENST00000555633Q96IS3
ENSG00000173976ENST00000555978Q96IS3

Expression (GTEx)

0
1
2
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

Protein levels (Protein atlas)

Not detected
Low
Medium
High
N/A

References

Pubmed IDYearTitleCitations
257896922015Autosomal Dominant Retinal Dystrophy With Electronegative Waveform Associated With a Novel RAX2 Mutation.14
257896922015Autosomal Dominant Retinal Dystrophy With Electronegative Waveform Associated With a Novel RAX2 Mutation.14
202374962010New genetic associations detected in a host response study to hepatitis B vaccine.37
202374962010New genetic associations detected in a host response study to hepatitis B vaccine.37

Citation

Dessen P

RAX2 (retina and anterior neural fold homeobox 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72503/css/favicon/manifest.json