ATRX (ATRX chromatin remodeler)

2003-08-01  

Identity

HGNC
LOCATION
Xq21.1
LOCUSID
ALIAS
JMS,MRX52,RAD54,RAD54L,XH2,XNP,ZNF-HX
FUSION GENES

Other Information

Locus ID:

NCBI: 546
MIM: 300032
HGNC: 886
Ensembl: ENSG00000085224

Variants:

dbSNP: 546
ClinVar: 546
TCGA: ENSG00000085224
COSMIC: ATRX

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000085224ENST00000373344P46100
ENSG00000085224ENST00000373344A4LAA3
ENSG00000085224ENST00000395603P46100
ENSG00000085224ENST00000400866H0Y3T0
ENSG00000085224ENST00000480283A0A087WWG0
ENSG00000085224ENST00000493470A0A096LP59
ENSG00000085224ENST00000622960A0A096LPG6
ENSG00000085224ENST00000623242A0A096LNR8
ENSG00000085224ENST00000623316A0A096LNX6
ENSG00000085224ENST00000623321A0A096LNN3
ENSG00000085224ENST00000624032A0A096LNW1
ENSG00000085224ENST00000624166A0A096LNL9
ENSG00000085224ENST00000624668A0A096LNL7
ENSG00000085224ENST00000625063A0A096LNL6

Expression (GTEx)

0
5
10
15
20
25

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
212523152011DAXX/ATRX, MEN1, and mTOR pathway genes are frequently altered in pancreatic neuroendocrine tumors.498
217196412011Altered telomeres in tumors with ATRX and DAXX mutations.331
228692052012Frequent ATRX, CIC, FUBP1 and IDH1 mutations refine the classification of malignant gliomas.196
228297742012Loss of ATRX, genome instability, and an altered DNA damage response are hallmarks of the alternative lengthening of telomeres pathway.194
201105662010ATRX interacts with H3.3 in maintaining telomere structural integrity in pluripotent embryonic stem cells.151
129531022003The ATRX syndrome protein forms a chromatin-remodeling complex with Daxx and localizes in promyelocytic leukemia nuclear bodies.143
210298602010ATR-X syndrome protein targets tandem repeats and influences allele-specific expression in a size-dependent manner.141
224161022012Association of age at diagnosis and genetic mutations in patients with neuroblastoma.134
216666792011ATRX ADD domain links an atypical histone methylation recognition mechanism to human mental-retardation syndrome.107
228861342012Frequent ATRX mutations and loss of expression in adult diffuse astrocytic tumors carrying IDH1/IDH2 and TP53 mutations.107

Citation

Dessen P

ATRX (ATRX chromatin remodeler)

Atlas Genet Cytogenet Oncol Haematol. 2003-08-01

Online version: http://atlasgeneticsoncology.org/gene/729/atrx