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Gene : BHLHA9 Homo sapiens

Name  ? basic helix-loop-helix family member a9 Cytological Location  17p13.3
Brief Description  basic helix-loop-helix family member a9
Description  This gene is a member of the basic helix-loop-helix family. The encoded protein is a transcription factor involved in limb development. Mutations in this gene have been associated with mesoaxial synostotic syndactyly Malik-Percin type (MSSD). Copy number variation of a locus containing this gene has been linked to a form of split-hand/foot malformation with long bone deficiency (SHFLD3). [provided by RefSeq, Mar 2015]
  • synonyms:
  • BHLHF42,
  • uc021tnd.2,
  • NM_001164405,
  • basic helix-loop-helix family, member a9,
  • bHLHa9,
  • CCSPD,
  • OTTHUMG00000132192,
  • BHLHA9,
  • Fingerin,
  • BHLHF42,
  • HGNC:35126
  • identifiers:
  • 727857,
  • ENSG00000205899,
  • BHLHA9

Genome feature

Region: gene ? Length: 708  
Location: 17:1270564-1271271 Cyto location: 17p13.3


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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

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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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

0 SN Ps

4 Cross References

14 Data Sets

17 Homologues

0 Located Features

97 Rna Seq Results