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Gene : AHNAK Homo sapiens

Name  ? AHNAK nucleoprotein Cytological Location  11q12.3
Brief Description  AHNAK nucleoprotein
description  The protein encoded by this gene is a large (700 kDa) structural scaffold protein consisting of a central domain with 128 aa repeats. The encoded protein may play a role in such diverse processes as blood-brain barrier formation, cell structure and migration, cardiac calcium channel regulation, and tumor metastasis. A much shorter variant encoding a 17 kDa isoform exists for this gene, and the shorter isoform initiates a feedback loop that regulates alternative splicing of this gene. [provided by RefSeq, Oct 2016]
  • synonyms:
  • AHNAK,
  • desmoyokin,
  • uc001ntl.4,
  • OTTHUMG00000167558,
  • AHNAKRS,
  • NM_024060,
  • MGC5395,
  • M80899,
  • AHNAK nucleoprotein (desmoyokin),
  • PM227,
  • HGNC:347
  • identifiers:
  • 79026,
  • ENSG00000124942,
  • AHNAK

Genome feature

Region: gene ? Length: 113319  
Location: 11:62433542-62546860 reverse strand Cyto location: 11q12.3


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Function

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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

0 Diseases

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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Gene --> Orthologues

Interactions

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Gene --> Physical and Genetic Interactions

Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

8 SN Ps

5 Cross References

17 Data Sets

8 Homologues

0 Located Features

90 Rna Seq Results