Human Gene BHLHA9 (ENST00000391429.2) from GENCODE V44
Description: Homo sapiens basic helix-loop-helix family member a9 (BHLHA9), mRNA. (from RefSeq NM_001164405) RefSeq Summary (NM_001164405): 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]. Gencode Transcript: ENST00000391429.2 Gencode Gene: ENSG00000205899.4 Transcript (Including UTRs) Position: hg38 chr17:1,270,444-1,271,815 Size: 1,372 Total Exon Count: 1 Strand: + Coding Region Position: hg38 chr17:1,270,564-1,271,271 Size: 708 Coding Exon Count: 1
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q7RTU4
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0003677 DNA binding GO:0005515 protein binding GO:0046982 protein heterodimerization activity GO:0046983 protein dimerization activity
Biological Process: GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0006357 regulation of transcription from RNA polymerase II promoter GO:0007275 multicellular organism development