ARX (aristaless related homeobox)

2004-05-01  

Identity

HGNC
ARX
LOCATION
Xp21.3
LOCUSID
170302
ALIAS
CT121,EIEE1,ISSX,MRX29,MRX32,MRX33,MRX36,MRX38,MRX43,MRX54,MRX76,MRX87,MRXS1,PRTS

Other Information

Locus ID:

NCBI: 170302
MIM: 300382
HGNC: 18060
Ensembl: ENSG00000004848

Variants:

dbSNP: 170302
ClinVar: 170302
TCGA: ENSG00000004848
COSMIC: ARX

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000004848ENST00000379044Q96QS3
ENSG00000004848ENST00000637993A0A1B0GUI3

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
378798922024Further characterisation of ARX-related disorders in females due to inherited or de novo variants.0
378798922024Further characterisation of ARX-related disorders in females due to inherited or de novo variants.0
374553852023Predicting recurrence in pancreatic neuroendocrine tumours: role of ARX and alternative lengthening of telomeres (ALT).0
374553852023Predicting recurrence in pancreatic neuroendocrine tumours: role of ARX and alternative lengthening of telomeres (ALT).0
353285052022Further Delineation of Duplications of ARX Locus Detected in Male Patients with Varying Degrees of Intellectual Disability.2
353285052022Further Delineation of Duplications of ARX Locus Detected in Male Patients with Varying Degrees of Intellectual Disability.2
337575642021Screening of the duplication 24 pb of ARX gene in Moroccan patients with X-linked Intellectual Disability.1
343561042021Analysis of a Set of KDM5C Regulatory Genes Mutated in Neurodevelopmental Disorders Identifies Temporal Coexpression Brain Signatures.14
344937542021Increased NKX6.1 expression and decreased ARX expression in alpha cells accompany reduced beta-cell volume in human subjects.4
337575642021Screening of the duplication 24 pb of ARX gene in Moroccan patients with X-linked Intellectual Disability.1
343561042021Analysis of a Set of KDM5C Regulatory Genes Mutated in Neurodevelopmental Disorders Identifies Temporal Coexpression Brain Signatures.14
344937542021Increased NKX6.1 expression and decreased ARX expression in alpha cells accompany reduced beta-cell volume in human subjects.4
318462352020Assessment of ARX expression, a novel biomarker for metastatic risk in pancreatic neuroendocrine tumors, in endoscopic ultrasound fine-needle aspiration.13
321034222020Alternative Lengthening of Telomeres and Differential Expression of Endocrine Transcription Factors Distinguish Metastatic and Non-metastatic Insulinomas.16
323832432020Constraint and conservation of paired-type homeodomains predicts the clinical outcome of missense variants of uncertain significance.0

Citation

Dessen P

ARX (aristaless related homeobox)

Atlas Genet Cytogenet Oncol Haematol. 2004-05-01

Online version: http://atlasgeneticsoncology.org/gene/121/js/lib/css/card-gene.css