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Gene : TCTN2 Homo sapiens

Name  ? tectonic family member 2 Cytological Location  12q24.31
Brief Description  tectonic family member 2
Description  This gene encodes a type I membrane protein that belongs to the tectonic family. Studies in mice suggest that this protein may be involved in hedgehog signaling, and essential for ciliogenesis. Mutations in this gene are associated with Meckel syndrome type 8. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
  • synonyms:
  • JBTS24,
  • C12orf38,
  • uc001ufp.3,
  • TECT2,
  • NM_024809,
  • chromosome 12 open reading frame 38,
  • C12orf38,
  • MKS8,
  • FLJ12975,
  • JBTS24,
  • OTTHUMG00000168700,
  • HGNC:25774,
  • AK056924,
  • TECT2,
  • MKS8,
  • Meckel syndrome, type 8,
  • TCTN2
  • identifiers:
  • 79867,
  • ENSG00000168778,
  • TCTN2

Genome feature

Region: gene ? Length: 37298  
Location: 12:123671108-123708405 Cyto location: 12q24.31


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Function

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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

2 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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Interactions

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Expression

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

Gene Ontology

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Other

3753 SN Ps

5 Cross References

18 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results