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Aliases for ANCR Gene

Aliases for ANCR Gene

  • Angelman Syndrome Chromosome Region 2 3
  • UBE3A, 6

External Ids for ANCR Gene

Summaries for ANCR Gene

Entrez Gene Summary for ANCR Gene

  • Angelman syndrome is characterized by mental retardation, movement or balance disorder, characteristic abnormal behaviors, and severe limitations in speech and language. Most cases are caused by absence of a maternal contribution to the imprinted region on chromosome 15q11-q13. Prader-Willi syndrome (PWS; MIM 176270) is a clinically distinct disorder resulting from paternal deletion of the same 15q11-q13 region. In addition, the chromosome 15q11-q13 duplication syndrome (MIM 608636) shows overlapping clinical features. Clayton-Smith and Pembrey (1992) [PubMed 1619637] provided a review of Angelman syndrome. Cassidy and Schwartz (1998) [PubMed 9556704] reviewed the molecular and clinical aspects of both Prader-Willi syndrome and Angelman syndrome. Horsthemke and Wagstaff (2008) [PubMed 18627066] provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome region.[supplied by OMIM, Oct 2008]

GeneCards Summary for ANCR Gene

ANCR (Angelman Syndrome Chromosome Region) is a Genetic Locus. Diseases associated with ANCR include angelman syndrome and prader-willi syndrome. Among its related pathways are Class I MHC mediated antigen processing and presentation and GPCR Pathway.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ANCR Gene

Genomics for ANCR Gene

Genomic Location for ANCR Gene

Orientation:
Unknown strand

Genomic View for ANCR Gene

Cytogenetic band:

No data available for Regulatory Elements and RefSeq DNA sequence for ANCR Gene

Proteins for ANCR Gene

Post-translational modifications for ANCR Gene

No Post-translational modifications

No data available for DME Specific Peptides for ANCR Gene

Domains for ANCR Gene

Graphical View of Domain Structure for InterPro Entry

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for ANCR Gene

Function for ANCR Gene

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for ANCR Gene

Localization for ANCR Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for ANCR Gene

Transcripts for ANCR Gene

Alternative Splicing Database (ASD) splice patterns (SP) for ANCR Gene

No ASD Table

Relevant External Links for ANCR Gene

ECgene alternative splicing isoforms for
ANCR

No data available for mRNA/cDNA for ANCR Gene

Expression for ANCR Gene

No Expression Related Data Available

In Situ Assay Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Expression partners for ANCR Gene

Orthologs for ANCR Gene

No data available for Orthologs and Evolution for ANCR Gene

Paralogs for ANCR Gene

No data available for Paralogs for ANCR Gene

Variants for ANCR Gene

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations from dbSNP and Humsavar , Structural Variations from Database of Genomic Variants (DGV) and Relevant External Links for ANCR Gene

Disorders for ANCR Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for ANCR Gene in MalaCards »

(2) Diseases for ANCR Gene including...

(1) OMIM Diseases for ANCR Gene (601623)

Genatlas disease for ANCR Gene

Angelman syndrome,happy puppet,characterized by severely delayed motor development,mental retardation,speech impairment,gait ataxia,epilepsy with abnormal EEG,as well as physical anomalies such as microcephaly,characteristic facial dysmorphy,hypopigmentation and scoliosis and an high rate of somatic mosaicism in normal carriers, and with end repeats facilitating homologous recombination process,including a mild phenotype with obesity,muscular hypotonia and ability to speak,caused by an imprinting defect
genes like me logo Genes that share disorders with ANCR: view

No data available for UniProtKB/Swiss-Prot , University of Copenhagen DISEASES , Novoseek inferred disease relationships and External Links for ANCR Gene

Publications for ANCR Gene

  1. Angelman syndrome. (PMID: 1619637) Clayton-Smith J. … Pembrey M.E. (J. Med. Genet. 1992) 3
  2. Prader-Willi and Angelman syndromes. Disorders of genomic imprinting. (PMID: 9556704) Cassidy S.B. … Schwartz S. (Medicine (Baltimore) 1998) 3
  3. Mechanisms of imprinting of the Prader-Willi/Angelman region. (PMID: 18627066) Horsthemke B. … Wagstaff J. (Am. J. Med. Genet. A 2008) 3

Products for ANCR Gene

Sources for ANCR Gene

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