HOXB8

HOXB8
Identifiers
Aliases	HOXB8 , HOX2, HOX2D, Hox-2.4, homeobox B8
External IDs	OMIM: 142963; MGI: 96189; HomoloGene: 7768; GeneCards: HOXB8; OMA:HOXB8 - orthologs
Gene location (Human) Chr. Chromosome 17 (human) [1] Band 17q21.32 Start 48,611,377 bp [1] End 48,615,292 bp [1]
Gene location (Mouse) Chr. Chromosome 11 (mouse) [2] Band 11 D|11 59.82 cM Start 96,172,731 bp [2] End 96,176,141 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in corpus epididymis seminal vesicula C1 segment gonad human kidney mucosa of ileum mucosa of transverse colon right adrenal gland caput epididymis left adrenal cortex Top expressed in lumbar subsegment of spinal cord tail of embryo transitional epithelium of urinary bladder thoracic vertebral column paramesonephric duct paraxial mesoderm perirhinal cortex urethra motor neuron entorhinal cortex More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA-binding transcription factor activity sequence-specific DNA binding DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component nucleus nucleoplasm Biological process embryonic skeletal system morphogenesis multicellular organism development adult locomotory behavior grooming behavior sensory perception of pain skeletal system morphogenesis dorsal spinal cord development regulation of transcription, DNA-templated negative regulation of myeloid cell differentiation transcription, DNA-templated anterior/posterior pattern specification negative regulation of transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 3218 15416 Ensembl ENSG00000120068 ENSMUSG00000056648 UniProt P17481 P09632 RefSeq (mRNA) NM_024016 NM_010461 RefSeq (protein) NP_076921 NP_034591 Location (UCSC) Chr 17: 48.61 – 48.62 Mb Chr 11: 96.17 – 96.18 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Homeobox protein Hox-B8 is a protein that in humans is encoded by the HOXB8 gene. ^{[5] [6] [7]}

Function

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 development. Increased expression of this gene is associated with colorectal cancer. Mice that have had the murine ortholog (see Homology (biology) § Orthology) of this gene knocked out exhibit an excessive pathologic grooming behavior. This behavior is similar to the hair-pulling behavior of humans suffering from trichotillomania (TTM). ^[7]

Transplantation of normal (wild-type) bone marrow into a Hoxb8 mutant mouse results in a reduction of compulsive grooming. ^[8]

See also

• Homeobox

References

1. GRCh38: Ensembl release 89: ENSG00000120068 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000056648 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. McAlpine PJ, Shows TB (Jul 1990). "Nomenclature for human homeobox genes". Genomics. 7 (3): 460. doi:10.1016/0888-7543(90)90186-X. PMID   1973146.
6. Scott MP (Nov 1992). "Vertebrate homeobox gene nomenclature". Cell. 71 (4): 551–3. doi:10.1016/0092-8674(92)90588-4. PMID   1358459. S2CID   13370372.
7. "Entrez Gene: HOXB8 homeobox B8".
8. Chen SK, Tvrdik P, Peden E, Cho S, Wu S, Spangrude G, Capecchi MR (May 2010). "Hematopoietic origin of pathological grooming in Hoxb8 mutant mice". Cell. 141 (5): 775–85. doi:10.1016/j.cell.2010.03.055. PMC   2894573 . PMID   20510925.

Further reading

• Peverali FA, D'Esposito M, Acampora D, Bunone G, Negri M, Faiella A, Stornaiuolo A, Pannese M, Migliaccio E, Simeone A (Oct 1990). "Expression of HOX homeogenes in human neuroblastoma cell culture lines". Differentiation; Research in Biological Diversity. 45 (1): 61–9. doi:10.1111/j.1432-0436.1990.tb00458.x. PMID   1981366.
• Giampaolo A, Acampora D, Zappavigna V, Pannese M, D'Esposito M, Carè A, Faiella A, Stornaiuolo A, Russo G, Simeone A (Jun 1989). "Differential expression of human HOX-2 genes along the anterior-posterior axis in embryonic central nervous system". Differentiation; Research in Biological Diversity. 40 (3): 191–7. doi:10.1111/j.1432-0436.1989.tb00598.x. hdl: 11380/1249645 . PMID   2570724.
• Acampora D, D'Esposito M, Faiella A, Pannese M, Migliaccio E, Morelli F, Stornaiuolo A, Nigro V, Simeone A, Boncinelli E (Dec 1989). "The human HOX gene family". Nucleic Acids Research. 17 (24): 10385–402. doi:10.1093/nar/17.24.10385. PMC   335308 . PMID   2574852.
• Boncinelli E, Acampora D, Pannese M, D'Esposito M, Somma R, Gaudino G, Stornaiuolo A, Cafiero M, Faiella A, Simeone A (1990). "Organization of human class I homeobox genes". Genome. 31 (2): 745–56. doi:10.1139/g89-133. PMID   2576652.
• Apiou F, Flagiello D, Cillo C, Malfoy B, Poupon MF, Dutrillaux B (1996). "Fine mapping of human HOX gene clusters". Cytogenetics and Cell Genetics. 73 (1–2): 114–5. doi:10.1159/000134320. PMID   8646877.
• Vider BZ, Zimber A, Hirsch D, Estlein D, Chastre E, Prevot S, Gespach C, Yaniv A, Gazit A (Mar 1997). "Human colorectal carcinogenesis is associated with deregulation of homeobox gene expression". Biochemical and Biophysical Research Communications. 232 (3): 742–8. doi:10.1006/bbrc.1997.6364. PMID   9126347.
• Dias Neto E, Correa RG, Verjovski-Almeida S, Briones MR, Nagai MA, da Silva W, Zago MA, Bordin S, Costa FF, Goldman GH, Carvalho AF, Matsukuma A, Baia GS, Simpson DH, Brunstein A, de Oliveira PS, Bucher P, Jongeneel CV, O'Hare MJ, Soares F, Brentani RR, Reis LF, de Souza SJ, Simpson AJ (Mar 2000). "Shotgun sequencing of the human transcriptome with ORF expressed sequence tags". Proceedings of the National Academy of Sciences of the United States of America. 97 (7): 3491–6. Bibcode:2000PNAS...97.3491D. doi: 10.1073/pnas.97.7.3491 . PMC   16267 . PMID   10737800.
• Fujino T, Yamazaki Y, Largaespada DA, Jenkins NA, Copeland NG, Hirokawa K, Nakamura T (Jul 2001). "Inhibition of myeloid differentiation by Hoxa9, Hoxb8, and Meis homeobox genes". Experimental Hematology. 29 (7): 856–63. doi: 10.1016/S0301-472X(01)00655-5 . PMID   11438208.
• Knoepfler PS, Sykes DB, Pasillas M, Kamps MP (Sep 2001). "HoxB8 requires its Pbx-interaction motif to block differentiation of primary myeloid progenitors and of most cell line models of myeloid differentiation". Oncogene. 20 (39): 5440–8. doi: 10.1038/sj.onc.1204710 . PMID   11571641.
• Greer JM, Capecchi MR (Jan 2002). "Hoxb8 is required for normal grooming behavior in mice". Neuron. 33 (1): 23–34. doi: 10.1016/S0896-6273(01)00564-5 . PMID   11779477. S2CID   18832852.
• Kosaki K, Kosaki R, Suzuki T, Yoshihashi H, Takahashi T, Sasaki K, Tomita M, McGinnis W, Matsuo N (Feb 2002). "Complete mutation analysis panel of the 39 human HOX genes". Teratology. 65 (2): 50–62. doi:10.1002/tera.10009. PMID   11857506.

External links

• HOXB8+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.