Human Gene HOXB5 (uc002inr.3) Description and Page Index
Description: Homo sapiens homeobox B5 (HOXB5), mRNA. RefSeq Summary (NM_002147): This gene is a member of the Antp homeobox family and encodes a nuclear protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor that is involved in lung and gut development. Increased expression of this gene is associated with a distinct biologic subset of acute myeloid leukemia (AML) and the occurrence of bronchopulmonary sequestration (BPS) and congenital cystic adenomatoid malformation (CCAM) tissue. [provided by RefSeq, Jul 2008]. 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 :: BI766494.1, M92299.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1966682, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Transcript (Including UTRs) Position: hg19 chr17:46,668,619-46,671,103 Size: 2,485 Total Exon Count: 2 Strand: - Coding Region Position: hg19 chr17:46,669,571-46,671,044 Size: 1,474 Coding Exon Count: 2
ID:HXB5_HUMAN DESCRIPTION: RecName: Full=Homeobox protein Hox-B5; AltName: Full=Homeobox protein HHO.C10; AltName: Full=Homeobox protein Hox-2A; AltName: Full=Homeobox protein Hu-1; FUNCTION: Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. SUBCELLULAR LOCATION: Nucleus. TISSUE SPECIFICITY: Spinal cord. DEVELOPMENTAL STAGE: Embryo. SIMILARITY: Belongs to the Antp homeobox family. SIMILARITY: Contains 1 homeobox DNA-binding domain. SEQUENCE CAUTION: Sequence=AAA52681.1; Type=Erroneous initiation;
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): HOXB5 CDC HuGE Published Literature: HOXB5 Positive Disease Associations: Obesity Related Studies:
Obesity Jonathan P Bradfield et al. Nature genetics 2012, A genome-wide association meta-analysis identifies new childhood obesity loci., Nature genetics.
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 P09067
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
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.