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Gene : ANKS6 Homo sapiens

Name  ? ankyrin repeat and sterile alpha motif domain containing 6 Cytological Location  9q22.33
Brief Description  ankyrin repeat and sterile alpha motif domain containing 6
description  This gene encodes a protein containing multiple ankyrin repeats and a SAM domain. It is thought that this protein may localize to the proximal region of the primary cilium, and may play a role in renal and cardiovascular development. Mutations in this gene have been shown to cause a form of nephronophthisis (NPHP16), a chronic tubulo-interstitial nephritis. [provided by RefSeq, Jul 2015]
  • synonyms:
  • ANKS6,
  • SAMD6,
  • uc004ayu.4,
  • ANKRD14,
  • PKDR1,
  • SAMD6,
  • NPHP16,
  • AK094247,
  • sterile alpha motif domain containing 6,
  • NPHP16,
  • FLJ36928,
  • HGNC:26724,
  • ANKRD14,
  • OTTHUMG00000020347,
  • NM_173551,
  • ankyrin repeat domain 14
  • identifiers:
  • 203286,
  • ENSG00000165138,
  • ANKS6

Genome feature

Region: gene ? Length: 64534  
Location: 9:98732009-98796542 reverse strand Cyto location: 9q22.33


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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

1 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

502 SN Ps

5 Cross References

18 Data Sets

10 Homologues

0 Located Features

90 Rna Seq Results