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Gene : ANKS1B Homo sapiens

Name  ? ankyrin repeat and sterile alpha motif domain containing 1B Cytological Location  12q23.1
Brief Description  ankyrin repeat and sterile alpha motif domain containing 1B
description  This gene encodes a multi-domain protein that is predominantly expressed in brain and testis. This protein interacts with amyloid beta protein precursor (AbetaPP) and may have a role in normal brain development, and in the pathogenesis of Alzheimer's disease. Expression of this gene has been shown to be elevated in patients with pre-B cell acute lymphocytic leukemia associated with t(1;19) translocation. Alternatively spliced transcript variants encoding different isoforms (some with different subcellular localization, PMID:15004329) have been described for this gene. [provided by RefSeq, Aug 2011]
  • synonyms:
  • AIDA-1,
  • cajalin-2,
  • EB-1,
  • AIDA,
  • HGNC:24600,
  • EB-1,
  • ANKS2,
  • AF145204,
  • OTTHUMG00000170308,
  • uc001tge.3,
  • AIDA-1,
  • NM_020140,
  • ANKS2,
  • ANKS1B,
  • EB1,
  • cajalin-2
  • identifiers:
  • 56899,
  • ENSG00000185046,
  • ANKS1B

Genome feature

Region: gene ? Length: 1254870  
Location: 12:98729904-99984773 reverse strand Cyto location: 12q23.1


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0 Pathways

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

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SNPs

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Disease

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Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Expression

Gene(s) --> Significant SNPs (GTex data)

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Other

0 Pathways

497 SN Ps

5 Cross References

16 Data Sets

6 Homologues

0 Located Features

90 Rna Seq Results