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Gene : FAM189B Homo sapiens

Name  ? family with sequence similarity 189 member B Cytological Location  1q22
Brief Description  family with sequence similarity 189 member B
Description  This gene is located near the gene for the lysosomal enzyme glucosylceramidase; a deficiency in this enzyme is associated with Gaucher disease. The encoded protein has been identified as a potential binding partner of a WW domain-containing protein which is involved in apoptosis and tumor suppression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]
  • synonyms:
  • FAM189B,
  • COTE1,
  • AF070550,
  • OTTHUMG00000035844,
  • C1orf2,
  • uc001fjm.4,
  • HGNC:1233,
  • cote1,
  • chromosome 1 open reading frame 2,
  • family with sequence similarity 189, member B,
  • C1orf2,
  • NM_006589
  • identifiers:
  • 10712,
  • ENSG00000160767,
  • FAM189B

Genome feature

Region: gene ? Length: 8688  
Location: 1:155247205-155255892 reverse strand Cyto location: 1q22


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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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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

3753 SN Ps

4 Cross References

16 Data Sets

3 Homologues

0 Located Features

97 Rna Seq Results