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Gene : KCTD1 Homo sapiens

Name  ? potassium channel tetramerization domain containing 1 Cytological Location  18q11.2
Brief Description  potassium channel tetramerization domain containing 1
description  This gene encodes a protein containing a BTB (Broad-complex, tramtrack and bric a brac), also known as a POZ (POxvirus and zinc finger) protein-protein interaction domain. The encoded protein negatively regulates the AP-2 family of transcription factors and the Wnt signaling pathway. A mechanism for the modulation of Wnt signaling has been proposed in which the encoded protein enhances ubiquitination and degradation of the beta-catenin protein. Mutations in this gene have been identified in Scalp-ear-nipple (SEN) syndrome. [provided by RefSeq, May 2017]
  • synonyms:
  • OTTHUMG00000131947,
  • C18orf5,
  • AF542549,
  • C18orf5,
  • NM_001136205,
  • potassium channel tetramerisation domain containing 1,
  • KCTD1,
  • HGNC:18249,
  • uc010xbk.5
  • identifiers:
  • 284252,
  • ENSG00000134504,
  • KCTD1

Genome feature

Region: gene ? Length: 202603  
Location: 18:26454910-26657512 reverse strand Cyto location: 18q11.2


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Function

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0 Pathways

Gene --> GO terms.

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)

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

271 SN Ps

5 Cross References

17 Data Sets

17 Homologues

0 Located Features

90 Rna Seq Results