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ATRX Gene

protein-coding GIFtS: 68

GC0XM076567

alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae)
(Previous name: alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog) )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: RAD54)

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
About This Section

Aliases
ATR2 ^²
EC 3.6.1.- ^³
MGC2094 ^²
MRXHF1 ^², ⁵
OTTHUMP00000024265 ^²
OTTHUMP00000062079 ^²
RAD54 ^²
RAD54L ^², ³
SFM1 ^², ⁵
SHS ^², ⁵
XH2 ^¹, ², ³, ⁵
XNP ^¹, ², ³, ⁵
ZNF-HX ^²
Znf-HX ^³

Descriptions
ATP-dependent helicase ATRX ^³
DNA dependent ATPase and helicase ^²
X-linked helicase II ^³
X-linked nuclear protein ^², ³
Zinc finger helicase ^²
alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog) ^¹
alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae) ^²
helicase 2, X-linked ^²
transcriptional regulator ATRX ^²

External Ids
HGNC: 886¹
Entrez Gene: 546²
UniProtKB: P46100³
Ensembl: ENSG00000085224⁷

Search outside databases for aliases for ATRX gene

Previous GC identifers: GC0XM072306 GC0XM073722 GC0XM074802 GC0XM075518 GC0XM075519

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for ATRX:

The protein encoded by this gene contains an ATPase/helicase domain, and thus it belongs to the

SWI/SNF family of chromatin remodeling proteins. The mutations of this gene are associated with an

X-linked mental retardation (XLMR) syndrome most often accompanied by alpha-thalassemia (ATRX)

syndrome. These mutations have been shown to cause diverse changes in the pattern of DNA

methylation, which may provide a link between chromatin remodeling, DNA methylation, and gene

expression in developmental processes. This protein is found to undergo cell cycle-dependent

phosphorylation, which regulates its nuclear matrix and chromatin association, and suggests its

involvement in the gene regulation at interphase and chromosomal segregation in mitosis. Multiple

alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided

by RefSeq]

UniProtKB/Swiss-Prot: ATRX_HUMAN, P46100

Function: Could be a global transcriptional regulator. Modifies gene expression by affecting

chromatin. May be involved in brain development and facial morphogenesis

Gene Wiki entry for ATRX

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the ATRX gene

Entrez Gene cytogenetic band: Xq13.1-q21.1 Ensembl cytogenetic band: Xq21.1 HGNC cytogenetic band: Xq21.1

ATRX Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome X GeneLoc Exon Structure

GeneLoc location for GC0XM076567: (about GC identifiers)

Start:	76,647,012 bp from pter
End:	76,928,375 bp from pter
Size:	281,364 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000023.9 NT_011651.16

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: ATRX_HUMAN, P46100 (See protein sequence)

Recommended Name: Transcriptional regulator ATRX

Size: 2492 amino acids; 282524 Da

Subunit: Probably binds EZH2. Binds annexin V in a calcium and

phosphatidylcholine/phosphatidylserine-dependent manner (By similarity). Interacts directly with

CBX5 via the PxVxL motif

Subcellular location: Nucleus. Note=Associated with pericentromeric heterochromatin during

interphase and mitosis, probably by interacting with HP1

PDB structures from and Proteopedia :

2JM1 (3D)

Secondary accessions: P51068 Q15886 Q59FB5 Q59H31 Q5H9A2 Q5JWI4 Q7Z2J1 Q9H0Z1 Q9NTS3

Alternative splicing: 6 isoforms: P46100-1 P46100-2 P46100-3 P46100-4 P46100-5 P46100-6

Post-translational modifications:

Phosphorylated upon DNA damage, probably by ATM or ATR¹

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (2 alternative transcripts):

NP_000480.2 NP_612114.1

ENSEMBL proteins:

ENSP00000362438 ENSP00000378952 ENSP00000341049 ENSP00000362441 ENSP00000378967 ENSP00000342402

ENSP00000362439 ENSP00000378969

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Sigma-Aldrich CompoZr ZFN for ATRX
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (ATRX)
	Human Recombinant Proteins from Abnova (ATRX)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

2 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	TAS	7874112
GO:0005720	nuclear heterochromatin	TAS	10570185

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Antibodies for ATRX:

	Browse Antibodies Central at Invitrogen
	Millipore Mono- and Polyclonal Antibodies for the study of ATRX
	Sigma-Aldrich Antibody Arrays and Antibodies for ATRX
	Browse R&D Systems for Antibodies
	Antibodies from Abcam (ATRX), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (ATRX)
	Novus Biologicals Antibodies for ATRX

Assays for ATRX:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

Graphical View of Domain Structure for InterPro Entry P46100

ProtoNet protein and cluster: P46100

1 Blocks protein family: IPB000330 SNF2 related domain

UniProtKB/Swiss-Prot: ATRX_HUMAN, P46100

Domain: Contains one Pro-Xaa-Val-Xaa-Leu (PxVxL) motif, which is required for interaction with

chromoshadow domains. This motif requires additional residues -7, -6, +4 and +5 of the central Val

which contact the chromoshadow domain

Similarity: Belongs to the SNF2/RAD54 helicase family

Similarity: Contains 1 GATA-type zinc finger

Similarity: Contains 1 helicase ATP-binding domain

Similarity: Contains 1 helicase C-terminal domain

Similarity: Contains 1 PHD-type zinc finger

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (ATRX)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (ATRX)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_000489

Applied Biosystems Silencer® siRNAs for ATRX

Sigma-Aldrich siRNA and siRNA Panels for ATRX

Sigma-Aldrich shRNA Panels and shRNA for ATRX

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for ATRX
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_000489
Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_000489
untagged cDNA clones in CMV expression vector (see all 4): NM_000489

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_000489

UniProtKB/Swiss-Prot: ATRX_HUMAN, P46100

Function: Could be a global transcriptional regulator. Modifies gene expression by affecting

chromatin. May be involved in brain development and facial morphogenesis

Enzyme Number (IUBMB): EC 3.6.1.-

9 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Atrx):

behavior/neurological	cellular	embryogenesis	growth/size	lethality-postnatal
lethality-prenatal/perinatal	nervous system	reproductive system	vision/eye

5/8 Gene Ontology (GO) molecular function terms (links to tree view) (see all 8 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000166	nucleotide binding	IEA	--
GO:0003677	DNA binding	IEA	--
GO:0003678	DNA helicase activity	TAS	7697714
GO:0005515	protein binding	IPI	12953102 17353931
GO:0005524	ATP binding	IEA	--

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Gene Network Central^TM Interacting Genes and Proteins Network for ATRX

5/24 Interacting proteins for ATRX (P46100^{1, 2} ENSP00000362441³) via UniProtKB, MINT, and/or STRING (see all 24 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
DAXX	Q9UER7¹	EBI-396461, EBI-77321
EIF4A2	Q14240¹	EBI-396461, EBI-73473
ZNF512B	Q96KM6²	MINT-60804
RAD51	ENSP00000372088³	STRING (score=.997)
MECP2	ENSP00000358973³	STRING (score=.979)

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5 Gene Ontology (GO) biological process terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006281	DNA repair	TAS	7697714
GO:0006306	DNA methylation	TAS	10742099
GO:0006310	DNA recombination	TAS	7697714
GO:0006355	regulation of transcription, DNA-dependent	TAS	7697714
GO:0006974	response to DNA damage stimulus	IEA	--

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for ATRX
3 Novoseek chemical compound relationships for ATRX gene

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
atp	34.65	7	15653683 (2), 10209103 (1), 19017809 (1), 16818238 (1) (see all 6)
zinc	22.26	8	10857753 (2), 10699177 (1), 10995512 (1), 17609377 (1) (see all 6)
cytosine	14.09	1	15120073 (1)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (ATRX)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (ATRX)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_000489

Sigma-Aldrich siRNA and siRNA Panels for ATRX

Sigma-Aldrich shRNA Panels and shRNA for ATRX

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_000489 NM_138270

REFSEQ mRNAs for ATRX gene (2 alternative transcripts):

NM_000489.3 NM_138270.2

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_000489 NM_138270

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_000489
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_000489
                                 untagged cDNA clones in CMV expression vector (see all 4): NM_000489

Additional cDNA sequence:

AB102641.1 AB208928.1 AB209545.1 AK295107.1 AK296959.1 AK297183.1 AK307791.1 AK308419.1

BC002521.2 BT007188.1 BX647222.1 CR605020.1 CR610856.1 L33813.1 U09820.1 U72936.2

U72937.2 U72938.2

21 DOTS entries:

DT.75188922 DT.95207537 DT.100797559 DT.99950475 DT.95207550 DT.100736904 DT.121314392 DT.97845877

DT.121314448 DT.92442528 DT.92442532 DT.121314396 DT.121314453 DT.121314456 DT.423143 DT.121314430

DT.121314440 DT.92442504 DT.95245849 DT.95332718 DT.99998422

24/375 AceView cDNA sequences (see all 375 ):

AA406426 AI457200 CB123241 BQ183740 AI597676 AI440533 BQ896577 AA669437

AW029443 AA748757 BM980320 Z33599 AA806986 AL707765 CK724945 AA864736

U72936 CB114986 BQ189245 CA944847 BQ778428 BG619429 AI872973 AU134499

highest scoring ESTs for ATRX:

U72936 AB102641 BG392740 BX474677 U72937 U72938 AA026492 AA074668 AA091424 AA127412

Unigene Cluster for ATRX:

Alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae)

Hs.533526 [show with all ESTs]

Unigene Representative Sequence: NM_000489

GeneLoc Exon Structure

5/7 Alternative Splicing Database (ASD) splice patterns (SP) for ATRX (see all 7 )

ExUns:	1a	·	1b	·	1c	^	2	^	3	^	4	^	5	^	6a	·	6b	^	7	^	8	^	9	^	10	^	11	^	12	^	13	^	14	^	15	^	16a	·	16b	^	17	^	18	^	19a	·	19b
SP1:
SP2:
SP3:
SP4:
SP5:

About this scheme

ECgene alternative splicing isoforms for ATRX

8 Ensembl transcripts including schematic representations:

ENST00000373341 ENST00000395586 ENST00000341401 ENST00000373344 ENST00000395603 ENST00000343347

ENST00000373342 ENST00000395605

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

ATRX expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for ATRX

¹ / ² / ³

13 probe-sets matching ATRX gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
39146_at²^{, 3}	U95-A	2	1.00	0.50	0.67	0.50	U72936	1.00	0.90	0.95	1
818_s_at²^{, 3}	U95-A	2	1.00	0.50	0.90	1.15	U72936	1.00	0.90	0.95	1
39148_s_at²^{, 3}	U95-A	2	1.00	0.50	0.10	0.19	L34363	0.20	0.33	0.27	1
39147_g_at²^{, 3}	U95-A	2	1.00	0.50	0.89	1.29	U72936	1.00	0.90	0.95	1
76209_at²^{, 3}	U95-D	2	1.00	0.50	0.74	1.07	AA806986	0.40	1.00	0.76	1
211022_s_at²^{, 3}	U133-A	2	1.00	0.73	--	--	BC002521	0.60	1.00	0.82	1
208860_s_at²^{, 3}	U133-A	2	1.00	0.50	--	--	U09820	0.60	1.00	0.82	1
208859_s_at²^{, 3}	U133-A	2	1.00	0.50	--	--	AI650257	0.60	1.00	0.82	1
208861_s_at²^{, 3}	U133-A	2	1.00	0.50	--	--	U72937	0.80	1.00	0.91	1
211022_s_at²	U133Plus2	2	1.00	0.73	--	--	--	--	--	--	--
208860_s_at²	U133Plus2	2	1.00	0.50	--	--	--	--	--	--	--
208859_s_at²	U133Plus2	2	1.00	0.50	--	--	--	--	--	--	--
208861_s_at²	U133Plus2	2	1.00	0.50	--	--	--	--	--	--	--

About this table

Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: --

SOURCE GeneReport for Unigene cluster: Hs.533526
Expression variation in blood from EXPOLDB for ATRX
UniProtKB/Swiss-Prot: ATRX_HUMAN, P46100
Tissue specificity: Ubiquitous

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for ATRX gene from 5/13 species (see all 13 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	ATRX¹	--	alpha thalassemia/mental retardation syndrome X-linked more	93.12(n) 93.64(a)	480963 XM_538084.2 XP_538084.2
chimpanzee (Pan troglodytes)	ATRX¹	--	alpha thalassemia/mental retardation syndrome X-linked more	99.71(n) 99.72(a)	449625 NM_001009018.1 NP_001009018.1
cow (Bos taurus)	ATRX¹	--	alpha thalassemia/mental retardation syndrome X-linked more	92.35(n) 91.54(a)	514473 XM_592333.3 XP_592333.3
rat (Rattus norvegicus)	Atrx¹	--	alpha thalassemia/mental retardation syndrome X-linked more	86.21(n) 85.14(a)	246284 XM_217570.4 XP_217570.4
mouse (Mus musculus)	Atrx^{1, 5}	X (43.80 cM)⁵	alpha thalassemia/mental retardation syndrome X-linked more^{1, 5}	86.82(n)¹ 84.99(a)¹	22589¹ NM_009530.1¹ NP_033556.1¹ AF026032⁵ AI447451⁵ (see all 38)

About this table Species with no ortholog for ATRX

ENSEMBL Gene Tree for ATRX

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

Paralogs for ATRX gene

LOC728849¹ ² RAD54L2² RAD54B²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/121 NCBI SNPs in ATRX are shown (see all 121 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 9)

AB	SNP ID	Valid	Chr X pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
--	rs5913260^1,2	C,F	76930246(+)	`ggttaC/Tttggt`	2	--	ng3¹		5		NS	188
--	rs45472092^1,2	F	76928157(-)	`AAGGCG/ATTCAA`	2	--	ut5¹		5		NS	190
--	rs12395309^1,2	A,C,F	76880985(+)	`TCCCGG/ACTAAA`	2	--	int¹		3		NA	115
--	rs5913083^1,2	C,F	76867166(+)	`GACATG/CGTTGT`	2	--	int¹		3		NA	142
--	rs5959908^1,2	A,C	76681118(+)	`cctccA/Gtctcc`	2	--	int¹		0	--	--	--	--
--	rs1202960^1,2	C,F	76927612(+)	`GCAGAG/AAAAAA`	2	--	int¹ trp³		6		MN NS	374
--	rs45565538^1,2	F	76820392(-)	`TCTCT-/GTCT GTCTC`	2	--	int¹		5		NS	174
--	rs45486792^1,2	F	76926068(-)	`GATAAC/GTGAAA`	2	--	int¹		5		NS	147
--	rs12394882^1,2	H	76855861(+)	`aataaA/Gcatag`	2	--	int¹		4		EU EA WA	418
--	rs45607332^1,2	F	76836344(-)	`GTTTGA/TTTCAC`	2	--	int¹		5		NS	151

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HapMap Linkage Disequilibrium images for ATRX (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 300032 disorders: 301040 300448 309580

UniProtKB/Swiss-Prot: ATRX_HUMAN, P46100

Defects in ATRX are the cause of X-linked alpha-thalassemia/mental retardation syndrome

(ATR-X) [MIM:301040]. ATR-X is an X-linked disorder comprising severe psychomotor retardation,

facial dysmorphism, urogenital abnormalities, and alpha-thalassemia. An essential phenotypic trait

are hemoglobin H erythrocyte inclusions

Defects in ATRX are the cause of mental retardation syndromic X-linked with hypotonic

facies syndrome type 1 (MRXSHF1) [MIM:309580]; also called Carpenter-Waziri syndrome (CWS),

Juberg-Marsidi syndrome (JMS), Smith-Fineman-Myers syndrome type 1 (SFM1). Clinical features

include severe mental retardation, dysmorphic facies, and a highly skewed X-inactivation pattern

in carrier women. Other more variable features include hypogonadism, deafness, renal anomalies,

and mild skeletal defects

Defects in ATRX are a cause of alpha-thalassemia myelodysplasia syndrome (ATMDS)

[MIM:300448]. In this disorder, alpha-thalassemia occurs as an acquired abnormality in association

with a multilineage myelodysplasia

10/17 Novoseek disease relationships for ATRX gene (see all 17 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
atr-x syndrome	98.46	21	8968741 (2), 16266892 (2), 10872473 (1), 10398234 (1) (see all 15)
juberg-marsidi syndrome	90.96	4	11449489 (1), 8630485 (1)
alpha-thalassemia	88.46	17	8644709 (3), 9043863 (2), 10398234 (1), 16480427 (1) (see all 10)
mental retardation	83.08	55	8644709 (3), 19291773 (3), 17296936 (3), 12673795 (2) (see all 29)
severe mental retardation	70.80	3	10742099 (1), 12673795 (1)
thalassemia	69.72	13	14592816 (2), 11449489 (1), 14729260 (1), 8644709 (1) (see all 7)
promyelocytic leukemia	61.49	3	14729260 (1), 12953102 (1), 17957225 (1)
genitourinary anomaly	57.21	4	10742099 (1), 15350606 (1), 16813605 (1)
myelodysplastic syndromes	55.00	6	14592816 (2), 16480427 (1), 19157545 (1), 18409179 (1)
microcephaly	46.17	2	12673795 (1)

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1 PharmGKB disease relationship for ATRX gene

Disease	PharmGKB Relations	PubMed IDs for articles supporting these relationships
Leukemia, Lymphocytic, Acute, L1	FA GN	12086872 12730115

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GeneTests: ATRX

Alpha-Thalassemia X-Linked Mental Retardation Syndrome

Human Gene Mutation Database: ATRX
Human Genome Epidemiology Navigator: ATRX (1 document)

(Possibly Related Articles in Doctor's Guide)
About This Section

FDA Approves Eligard 30mg (Leuprolide Acetate for Injectable Suspension), Four-Month Prostate Cancer Product

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
About This Section

10/157 PubMed articles for ATRX gene (see all 157 ):

Cloning and characterization of a new human Xq13 gene, encoding a putative helicase. (PubMed id 7874112)^{1, 2, 3, 4} Stayton C.L.... Consalez G.G. (1994)
Localization of a putative transcriptional regulator (ATRX) at pericentromeric heterochromatin and the short arms of acrocentric chromosomes. (PubMed id 10570185)^{1, 3, 4} McDowell T.L.... Higgs D.R. (1999)
Structural consequences of disease-causing mutations in the ATRX-DNMT3-DNMT3L (ADD) domain of the chromatin-associated protein ATRX. (PubMed id 17609377)^{1, 3, 4} Argentaro A....Rhodes D. (2007)
Specific interaction between the XNP/ATR-X gene product and the SET domain of the human EZH2 protein. (PubMed id 9499421)^{1, 3, 4} Cardoso C....Colleaux L. (1998)
ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome. (PubMed id 8968741)^{1, 3, 4} Picketts D.J....Gibbons R.J. (1996)
A point mutation in the XNP gene, associated with an ATR-X phenotype without alpha-thalassemia. (PubMed id 9043863)^{1, 3, 4} Villard L.... Fontes M. (1996)
Molecular genetic study of Japanese patients with X-linked alpha- thalassemia/mental retardation syndrome (ATR-X). (PubMed id 10995512)^{1, 3, 4} Wada T.... Saitoh S. (2000)
Carpenter-Waziri syndrome results from a mutation in XNP. (PubMed id 10398237)^{1, 3, 4} Abidi F....Curtis M. (1999)
Determination of the genomic structure of the XNP/ATRX gene encoding a potential zinc finger helicase. (PubMed id 9244431)^{1, 3, 4} Villard L.... Fontes M. (1997)
Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain. (PubMed id 9326931)^{1, 3, 4} Gibbons R.J....Higgs D.R. (1997)

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 546	HGNC: 886	AceView: ATRX	Ensembl:ENSG00000085224	euGenes: HUgn546
ECgene: ATRX	H-InvDB: ATRX

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
ATLAS Chromosomes in Cancer entry for ATRX	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.genetests.org/query?gene=ATRX

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ATRX Gene

protein-coding GIFtS: 68

Aliases &
Descriptions
for ATRX

Summaries
for ATRX

Genomic Location
for ATRX

Proteins
for ATRX

Protein Domains/
Families
for ATRX

Gene Function
for ATRX

Pathways & Interactions
for ATRX

Drugs & Compounds
for ATRX

Transcripts
for ATRX

Expression
for ATRX

Orthologs
for ATRX

Paralogs
for ATRX

SNPs/Variants
for ATRX

Disorders & Mutations
for ATRX

Medical News
for ATRX

Publications
for ATRX

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Genome Databases showing ATRX

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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

ATRX (Gene Symbol)
ATR2
EC 3.6.1.-
MGC2094
MRXHF1
OTTHUMP00000024265
OTTHUMP00000062079
RAD54
RAD54L
SFM1
SHS
XH2
XNP
ZNF-HX
Znf-HX
ATP-dependent helicase ATRX
DNA dependent ATPase and helicase
X-linked helicase II
X-linked nuclear protein
Zinc finger helicase
alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)
alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae)
helicase 2, X-linked
transcriptional regulator ATRX

ATRX Gene

protein-coding GIFtS: 68

Aliases & Descriptionsfor ATRX

Summariesfor ATRX

Genomic Locationfor ATRX

Proteinsfor ATRX

Protein Domains/Familiesfor ATRX

Gene Functionfor ATRX

Pathways & Interactionsfor ATRX

Drugs & Compoundsfor ATRX

Transcriptsfor ATRX

Expression for ATRX

Orthologsfor ATRX

Paralogsfor ATRX

SNPs/Variantsfor ATRX

Disorders & Mutationsfor ATRX

Medical Newsfor ATRX

Publicationsfor ATRX

Search for ATRX

Genome Databases showing ATRX

Other Databases showing ATRX

Specialized Databases showing ATRX

Licensable Technologiesfor ATRX

Servicesfor ATRX

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for ATRX

Summaries
for ATRX

Genomic Location
for ATRX

Proteins
for ATRX

Protein Domains/
Families
for ATRX

Gene Function
for ATRX

Pathways & Interactions
for ATRX

Drugs & Compounds
for ATRX

Transcripts
for ATRX

Expression
for ATRX

Orthologs
for ATRX

Paralogs
for ATRX

SNPs/Variants
for ATRX

Disorders & Mutations
for ATRX

Medical News
for ATRX

Publications
for ATRX

Licensable Technologies
for ATRX

Services
for ATRX