Mouse Gene Pax9 (uc007npi.2) Description and Page Index
Description: Mus musculus paired box 9 (Pax9), mRNA. RefSeq Summary (NM_011041): This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical roles during fetal development and cancer growth. Mice lacking this gene exhibit impaired development of organs, musculature and the skeleton, including absent and abnormally developed teeth, and neonatal lethality. Mutations in the human gene are associated with selective tooth agenesis-3. [provided by RefSeq, Sep 2015]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK132404.1, X84000.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849375, SAMN00849376 [ECO:0000348] ##Evidence-Data-END## Transcript (Including UTRs) Position: mm10 chr12:56,695,471-56,712,822 Size: 17,352 Total Exon Count: 4 Strand: + Coding Region Position: mm10 chr12:56,695,861-56,709,907 Size: 14,047 Coding Exon Count: 4
ID:PAX9_MOUSE DESCRIPTION: RecName: Full=Paired box protein Pax-9; FUNCTION: Transcription factor required for normal development of thymus, parathyroid glands, ultimobranchial bodies, teeth, skeletal elements of skull and larynx as well as distal limbs. SUBUNIT: Interacts with KDM5B. SUBCELLULAR LOCATION: Nucleus. TISSUE SPECIFICITY: In the embryo, expressed in pharyngeal pouches and derivatives, developing vertebral column, tail, head and limbs. DEVELOPMENTAL STAGE: In the embryo, expression increases slightly from day 9.5 to day 11.5, remains almost constant until day 14.5 and then decreases. DISRUPTION PHENOTYPE: Death shortly after birth. Mice lack thymus, parathyroid glands, ultimobranchial bodies and teeth. They show craniofacial and visceral malformations as well as malformations of their distal limbs. SIMILARITY: Contains 1 paired domain.
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 P47242
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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:0000977 RNA polymerase II regulatory region sequence-specific DNA binding GO:0001228 RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription GO:0003677 DNA binding GO:0003700 sequence-specific DNA binding transcription factor activity
Biological Process: GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0007275 multicellular organismal development GO:0007492 endoderm development GO:0009887 organ morphogenesis GO:0042476 odontogenesis GO:0042481 regulation of odontogenesis GO:0045892 negative regulation of transcription, DNA-templated GO:0045944 positive regulation of transcription from RNA polymerase II promoter GO:0060325 face morphogenesis GO:0071363 cellular response to growth factor stimulus
US Server
