Summaries for X Inactivation

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44Wikipedia, 22MalaCards
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Wikipedia: X-inactivation (also called lyonization) is a process by which one of the two copies of the X chromosome...44 more...

MalaCards: X Inactivation, also known as x-inactivation, is related to duchenne muscular dystrophy and rett syndrome. An important gene associated with X Inactivation is XIST (X (inactive)-specific transcript (non-protein coding)), and among its related pathways are Signal transduction Activin A signaling regulation and Systemic lupus erythematosus. The compounds 5-methylcytosine and hpaii have been mentioned in the context of this disorder. Affiliated tissues include brain, skin and liver, and related mouse phenotypes are embryogenesis and reproductive system.

Aliases & Descriptions for X Inactivation

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7diseasecard, 43UMLS
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x inactivation 7
x-inactivation 7
inactivation 43

Related Diseases for X Inactivation

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13GeneCards, 14GeneDecks
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Diseases related to x inactivation by text searches and GeneDecks gene sharing:

(show top 50)    (show all 462)
idRelated DiseaseScoreTop Affiliating Genes
1duchenne muscular dystrophy29.9STS, NR0B1, OTC, DMD, GK2
2rett syndrome29.8HCCS, OTC, MECP2, ATRX, UBA1, VAMP7
3x-inactivation, familial skewed29.3XIST, XIC
4mental retardation syndrome29.0OFD1, MECP2, FMR1, ATRX, KDM5C
5immunodeficiency28.2HIST1H2AH, HIST4H4, HIST3H2A, HIST2H2AA3, HIST2H2AB, HIST1H2AD
6ocular albinism28.2STS, HCCS, PLP1, ARSE, FRMD7
7colorectal cancer28.0DMD, TMSB4X, TRO, TRIM22, HPRT1, OTC
8turner syndrome28.0RPS4X, RPS4Y1, NR0B1, DMD, AR, FMR1
9wilms tumor28.0BRCA1, AVPR2, AR, FAM123B, CTCF, NR0B1
10leukemia27.7HNRNPU, TMSB4X, DMD, OTC, CTCF, NR0B1
11twinning27.7OTC, PLP1, TIMM8A, PGK1, GATA1, DMD
12albinism27.6STS, HCCS, PLP1, HPRT1, AR, ARSE
13ataxia27.1TRO, OTC, OFD1, SRSF1, CTCF, NR0B1
14myelodysplastic syndrome27.1GATA1, PRKG1, DNMT3B, HPRT1, JAK2, ATRX
15hematopoiesis26.4GATA1, PGK1, CSF2RA, PRKG1, DNMT3B, HPRT1
16x-linked disease26.2TIMM8A, OTC, ZFX
17fragile x syndrome26.0SLC6A8, HIST4H4, HPRT1, MECP2, FMR1
18cleft palate25.7PGK1, HIST2H2AC, HIST2H2AA3, HIST2H2AA4, FAM123B, MID1
19chondrodysplasia punctata25.6STS, ARSE, CD99, BGN
20testicular cancer25.0USP9Y, XIST, AR, HPRT1, TRO, PRKG1
21riddle syndrome13.6HIST2H2AC, HIST1H2AJ, HIST1H2AD, HIST2H2AB, HIST2H2AA3, HIST2H2AA4
22immunodeficiency, centromere instability and facial anomalies syndrome13.6DNMT3B, MECP2, VAMP7
23learning disability13.5FAM123B, MECP2, ARSE, FMR1
24complex glycerol kinase deficiency13.4NR0B1, DMD, GK2
25glycerol kinase deficiency13.3NR0B1, DMD, GK2
26focal dermal hypoplasia13.3HCCS, OFD1, FAM123B, MSL3
27klinefelter's syndrome13.3PGK1, NR0B1, OTC, MECP2, AR, XIST
28mental retardation, x-linked13.3SLC16A2, STS, HSD17B10, MECP2, IQSEC2, ATRX
29azoospermia13.2RPS4Y1, NR0B1, GLA, AR, PATZ1, ZFX
30developmental disabilities13.0NR0B1, OFD1, HPRT1, MECP2, MID1, FMR1
31aplastic anemia13.0GATA1, PGK1, PRKG1, HPRT1, PIGA
32hypospadias12.9DMD, HSD17B10, AR, MID1, FMR1
33recessive developmental delay, small stature, microcephaly and brain calcifications12.9SLC16A2, PRKG1, OTC, DMD, MECP2, FMR1
34short stature12.9SLC6A8, STS, NR0B1, GNAS, AR, ARSE
35spinal muscular atrophy12.8SRSF1, DMD, MECP2, AR, MTM1, UBA1
36systemic lupus erythematosus12.7HIST3H2A, HIST2H2AA4, HIST2H2AA3, HIST2H2AB, HIST1H2AD, HIST1H2AJ
37lupus erythematosus12.7HIST3H2A, HIST2H2AA4, HIST2H2AA3, HIST2H2AB, HIST1H2AD, HIST1H2AJ
38hypotonia12.4SLC16A2, SLC6A8, OFD1, DMD, MECP2, MTM1
39mayer-rokitansky-kuster-hauser syndrome11.4TRIM22, DMD, OTC, NR0B1, PLP1, DNMT3B
40intellectual disability11.0ZMYM3, KDM5C, AVPR2, ATRX, FMR1, IQSEC2
41carcinoma10.9
42malaria10.9RP2, RPS4X, RPS4Y1, SMC1A, SRSF1, OTC
43prostatitis9.3
44lung cancer9.3
45squamous cell carcinoma8.9
46neuronitis8.9
47pancreatitis8.8
48prostate cancer8.7
49thyroiditis8.6
50retinoblastoma8.5

Graphical network of the top 20 diseases related to x inactivation:



Graphical network of diseases related to x inactivation

Clinical Features for X Inactivation

Drugs & Therapeutics for X Inactivation

Sources:
4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for X Inactivation

Anatomical Context for X Inactivation

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22MalaCards
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MalaCards organs/tissues related to x inactivation:

22
Brain, Skin, Liver, Breast, T cells, B cells

Phenotypes for genes affiliated with X Inactivation

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25MGI
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MGI Mouse Phenotypes related to x inactivation:

25
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1embryogenesis phenotypeMP:00053807.5JAK2, ATRX, XIST, KDM6A, KDM5C, ZFX
2reproductive system phenotypeMP:00053897.4JAK2, PRKG1, AR, MECP2, HPRT1, DMD
3normal phenotypeMP:00028737.1GATA1, MED14, GNAS, HPRT1, TRO, TMSB4X
4hematopoietic system phenotypeMP:00053976.9DMD, HPRT1, OTC, CTCF, SMC1A, PLP1
5cellular phenotypeMP:00053846.2FMR1, CTCF, GLA, PATZ1, GATA1, SLC25A5
6growth/size phenotypeMP:00053785.9OFD1, OTC, DMD, HNRNPU, HPRT1, GNAS
7mortality/agingMP:00107685.1OFD1, OTC, DMD, TRO, HNRNPU, HPRT1

Publications for genes affiliated with X Inactivation

Sources:
35PubMed
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Articles related to x inactivation:

(show top 50)    (show all 123)
idTitleAuthorsYearAffiliating Genes
1Ftx is a non-coding RNA which affects Xist expression and chromatin structure within the X-inactivation center region. (21118898)Chureau C.... Rougeulle C.2011FTX
2Clinical features and X-inactivation in females heter ozygous for creatine transporter defect. (20528887)van de Kamp J.M.... Salomons G.S.2011SLC6A8
3De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardation. (21326285)Grasshoff U.... Wieczorek D.2011MECP2
4X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17I^-hydroxysteroid dehydrogenase 10 deficiency. (20664630)GarcA-a-Villoria J.... Ribes A.2010HSD17B10
5Skewed X inactivation is associated with phenotype in a female with adrenal hypoplasia congenita. (18762570)Shaikh M.G.... Clayton P.E.2008NR0B1, GK2
6X-inactivation in female human embryonic stem cells is in a nonrandom pattern and prone to epigenetic alterations. (18339804)Shen Y.... Fan G.2008XIST
7Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene. (17962394)Kaplan Y.... Akarsu N.A.2008FRMD7
8Correlation between clinical phenotypes and X-inactivation patterns in six female carriers with heterozygote vasopressin type 2 receptor gene mutations. (18323675)Satoh M.... Yoshizawa-Ogasawara A.2008AVPR2
9A transient heterochromatic state in Xist preempts X inactivation choice without RNA stabilization. (16507360)Sun B.K.... Lee J.T.2006XIC
10Transient colocalization of X-inactivation centres accompanies the initiation of X inactivation. (16434960)Bacher C.P.... Heard E.2006TSIX
11X-inactivation-based clonality analysis and quantitative JAK2V617F assessment reveal a strong association between clonality and JAK2V617F in PV but not ET/MMM, and identifies a subset of JAK2V617F-negative ET and MMM patients with clonal hematopoiesis. (16434490)Levine R.L.... Busque L.2006JAK2
12Non-skewed X-inactivation may cause mental retardation in a female carrier of X-linked alpha-thalassemia/mental retardation syndrome (ATR-X): X-inactivation study of nine female carriers of ATR-X. (16100724)Wada T.... Saitoh S.2005ATRX
13Boundaries between chromosomal domains of X inactivation and escape bind CTCF and lack CpG methylation during early development. (15669143)Filippova G.N.... Disteche C.M.2005CTCF, EIF2S3, H3F3A
14Surgical stress-induced transient nephrogenic diabetes insipidus (NDI) associated with decreased Vasopressin receptor2 (AVPR2) expression linked to nonsense-mediated mRNA decay and incomplete skewed X-inactivation in a female patient with a heterozygous AVPR2 mutation (c. 89-90 delAC). (15163343)Demura M.... Mabuchi H.2004AVPR2
15Polycomb group proteins Ring1A/B link ubiquitylation of histone H2A to heritable gene silencing and X inactivation. (15525528)de Napoles M.... Brockdorff N.2004RNF2
16X-inactivation patterns in carriers of X-linked myotubular myopathy. (12899873)Kristiansen M.... Wallgren-Pettersson C.2003AR
17Early and severe presentation of X-linked myotubular myopathy in a girl with skewed X-inactivation. (12467733)Jungbluth H.... Muntoni F.2003MTM1
18Allele-specific underacetylation of histone H4 downstream from promoters is associated with X-inactivation in human cells. (12498347)Morrison H.... Jeppesen P.2002HIST1H1E, HIST4H4
19Enox, a novel gene that maps 10 kb upstream of Xist and partially escapes X inactivation. (12160738)Johnston C.M.... Nesterova T.B.2002XIST
20CTCF, a candidate trans-acting factor for X-inactivation choice. (11743158)Chao W.... Lee J.T.2002CTCF, XIST, TSIX
21Comparative sequence analysis of the X-inactivation center region in mouse, human, and bovine. (12045143)Chureau C.... Duret L.2002ZCCHC13, FTX, XIC
22Tsix-mediated repression of Xist accumulation is not sufficient for normal random X inactivation. (11440993)Morey C.... Clerc P.2001XIST
23Identification of TSIX, encoding an RNA antisense to human XIST, reveals differences from its murine counterpart: implications for X inactivation. (11555794)Migeon B.R.... McIntosh I.2001TSIX
24The role of different X-inactivation pattern on the v ariable clinical phenotype with Rett syndrome. (11738865)Ishii T.... Oki J.2001MECP2
25Molecular characterisation of 10 Dutch properdin type I deficient families: mutation analysis and X-inactivation studies. (10909851)van den Bogaard R.... Mannens M.M.A.M.2000CFP
26Further examination of the Xist promoter-switch hypothesis in X inactivation: evidence against the existence and function of a P(0) promoter. (10588721)Warshawsky D.... Lee J.T.1999XIC
27Tsix, a gene antisense to Xist at the X-inactivation centre. (10192391)Lee J.T.... Warshawsky D.1999XIST, TSIX
28X inactivation and somatic cell selection rescue female mice carrying a Piga-null mutation. (10377440)Keller P.... Bessler M.1999PIGA
29Human XIST yeast artificial chromosome transgenes show partial X inactivation center function in mouse embryonic stem cells. (10359800)Heard E.... Avner P.1999XIC
30Chromosomal basis of X chromosome inactivation: identification of a multigene domain in Xp11.21-p11.22 that escapes X inactivation. (9671743)Miller A.P.... Willard H.F.1998HSD17B10
31Random X inactivation in a girl with a balanced t(X;9) and an abnormal phenotype. (9632170)Wolff D.J.... Zackowski J.L.1998AR
32Multiple congenital anomalies, brain hypomyelination, and ocular albinism in a female with dup(X) (pter-->q24::q21.32-->qter) and random X inactivation. (9332664)Carrozzo R.... Zuffardi O.1997PLP1
33An assay for X inactivation based on differential methylation at the fragile X locus, FMR1. (8826444)Carrel L.... Willard H.F.1996FMR1
34The Drosophila developmental gene fat facets has a human homologue in Xp11.4 which escapes X-inactivation and has related sequences on Yq11.2. (8922996)Jones M.H.... Affara N.A.1996USP9X, USP9Y
35X inactivation analysis and DNA methylation studies of the ubiquitin activating enzyme E1 and PCTAIRE-1 genes in human and mouse. (8852665)Carrel L.... Willard H.F.1996UBA1, CDK16
36Cloning of the rat steroid sulfatase gene (Sts), a non-pseudoautosomal X-linked gene that undergoes X inactivation. (8662223)Li X.M.... Shapiro L.J.1996STS
37Characterization of the promoter region of human ster oid sulfatase: a gene which escapes X inactivation. (8782490)Li X.M.... Shapiro L.J.1996STS
38A novel gene, DXS8237E, lies within 20 kb upstream of UBE1 in Xp11.23 and has a different X inactivation status. (8808293)Coleman M.P.... Davies K.E.1996UBA1, RBM10
39A member of the caudal family of homeobox genes maps to the X-inactivation centre region of the mouse and human X chromosomes. (7655457)Horn J.M.... Ashworth A.1995CDX4, XIST
40The mouse Sb1.8 gene located at the distal end of the X chromosome is subject to X inactivation. (7757076)Sultana R.... Disteche C.M.1995SMC1A, KDM5C
41A novel X gene with a widely transcribed Y-linked homologue escapes X-inactivation in mouse and human. (7951230)Agulnik A.I.... Bishop C.E.1994KDM5C
42Mapping of the distal boundary of the X-inactivation center in a rearranged X chromosome from a female expressing XIST. (8364571)Leppig K.A.... Disteche C.M.1993XIST
43A human pseudoautosomal gene, ADP/ATP translocase, escapes X-inactivation whereas a homologue on Xq is subject to X-inactivation. (8490661)Schiebel K.... Rappold G.1993SLC25A6, SLC25A5
44Pulsed-field map of Xq13 in the region of the human X inactivation center. (8406503)LafreniA"re R.G.... Willard H.F.1993PGK1
45Fragile X expression and X inactivation. II. The fragile site at Xq27.3 has a basic function in the pathogenesis of fragile X-linked mental retardation. (1715307)Wohrle D.... Steinbach P.1991TRIM22
46Skewed X inactivation in a female MZ twin results in Duchenne muscular dystrophy. (2180286)Richards C.S.... Cortada J.M.1990DMD
47The human arylsulfatase-C isoenzymes: two distinct genes that escape from X inactivation. (1690506)Chang P.L.... Shows T.B.1990STS, ARSC2
48Chromosomal localization of ZFX--a human gene that es capes X inactivation--and its murine homologs. (1970799)Page D.C.... Akots G.1990ZFX
49Homologous ribosomal protein genes on the human X and Y chromosomes: escape from X inactivation and possible implications for Turner syndrome. (2124517)Fisher E.M.C.... Page D.C.1990RPS4X, RPS4Y1
50ZFX has a gene structure similar to ZFY, the putative human sex determinant, and escapes X inactivation. (2500252)Schneider-Gaedicke A.... Page D.C.1989ZFX

Expression for genes affiliated with X Inactivation

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1BioGPS
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Expression patterns in normal tissues for genes affiliated with X Inactivation

Pathways for genes affiliated with X Inactivation

Sources:
10EMD Millipore, 20KEGG, 41Thomson Reuters, 3Cell Signaling Technology
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Compounds for genes affiliated with X Inactivation

Sources:
32Novoseek , 18HMDB, 9DrugBank
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Compounds related to x inactivation according to GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
15-methylcytosine32 18 10.9PGK1, DNMT3B, HPRT1, MECP2, BRCA1
2hpaii32 9.8AR, FMR1, PGK1, MECP2, HPRT1, NR0B1
3cytosine32 18 10.7PGK1, HIST4H4, TRIM22, ATRX, MECP2, FMR1
4chloramphenicol32 9 9 11.4GATA1, AR, HPRT1, TRIM22, OTC, HIST4H4
5glycerol32 9 18 9 12.3GLA, GK2, DMD, OTC, NR0B1, PRKG1
65-aza-2deoxycytidine32 9.3AR, DNMT3B, BRCA1, JAK2, FMR1, MECP2
7guanine32 9 18 9 12.0GNAS, AR, MECP2, HPRT1, PRKG1, PGK1
8leucine32 8.6GATA1, TRIM22, JAK2, BGN, GNAS, DMD
9arginine32 8.5PLP1, MECP2, AVPR2, FMR1, AR, GNAS
10steroid32 8.4CTCF, NR0B1, HIST4H4, STS, GATA1, TRIM22
11oligonucleotide32 7.9PLP1, DNMT3B, OTC, GATA1, DMD, GNAS

GO Terms for genes affiliated with X Inactivation

Sources:
12Gene Ontology
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Cellular components related to x inactivation according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleosomeGO:0007869.7H2AFY, HIST2H2AC, HIST1H2AD, HIST1H1E, HIST2H2AB, HIST2H2AA4
2nucleusGO:0056346.3HIST3H2A, HIST1H2AH, HIST1H2AC, RNF2, SMC1A, NR0B1

Biological processes related to x inactivation according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1regulation of gene expression by genetic imprintingGO:00634910.2MECP2, CTCF, DNMT3B, EED
2nucleosome assemblyGO:0063349.7H2AFY, HIST2H2AC, HIST1H2AD, HIST1H1E, HIST2H2AB, HIST2H2AA4

Molecular functions related to x inactivation according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1chromatin bindingGO:0036829.3GATA1, AR, PATZ1, SATB1, ATRX, SMC1A
2DNA bindingGO:0036778.1HIST1H2AD, HIST2H2AB, HIST1H1E, HIST2H2AC, GATA1, HIST2H2AA4
3protein bindingGO:0055155.1RNF2, RP2, SMC1A, NR0B1, CTCF, SRSF1

Sources for X Inactivation

2CDC
11FMA
18HMDB
19ICD9CM
20KEGG
24MeSH
25MGI
27NCIt
28NDF-RT
31NINDS
32Novoseek
33OMIM
35PubMed
36QIAGEN
43UMLS