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Gene : CALB2 Homo sapiens

Name  ? calbindin 2 Cytological Location  16q22.2
Brief Description  calbindin 2
Description  This gene encodes an intracellular calcium-binding protein belonging to the troponin C superfamily. Members of this protein family have six EF-hand domains which bind calcium. This protein plays a role in diverse cellular functions, including message targeting and intracellular calcium buffering. It also functions as a modulator of neuronal excitability, and is a diagnostic marker for some human diseases, including Hirschsprung disease and some cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010]
  • synonyms:
  • calbindin 2, 29kDa (calretinin),
  • CR,
  • NM_001740,
  • HGNC:1435,
  • CAB29,
  • CALB2,
  • CAL2,
  • X56667,
  • calretinin,
  • OTTHUMG00000137589,
  • CAL2,
  • uc002faa.6
  • identifiers:
  • 794,
  • ENSG00000172137,
  • CALB2

Genome feature

Region: gene ? Length: 31726  
Location: 16:71358713-71390438 Cyto location: 16q22.2


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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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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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Expression

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

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Other

0 Pathways

552 SN Ps

5 Cross References

16 Data Sets

7 Homologues

0 Located Features

97 Rna Seq Results