HOXD13

HOXD13
Identificadores
Nomes alternativos	HOXD13
IDs externos	OMIM: 142989 HomoloGene: 20147 GeneCards: HOXD13
Doenças Geneticamente Relacionadas
	brachydactyly-syndactyly syndrome, brachydactyly type E1, Associação VACTERL, sindactilia
Ontologia genética
Função molecular	• DNA binding; • sequence-specific DNA binding; • GO:0001077, GO:0001212, GO:0001213, GO:0001211, GO:0001205 DNA-binding transcription activator activity, RNA polymerase II-specific; • chromatin binding; • GO:0000980 RNA polymerase II cis-regulatory region sequence-specific DNA binding; • GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific; • GO:0001158 cis-regulatory region sequence-specific DNA binding; • GO:0001131, GO:0001151, GO:0001130, GO:0001204 DNA-binding transcription factor activity; • sequence-specific double-stranded DNA binding;
Componente celular	• núcleo celular;
Processo biológico	• pattern specification process; • skeletal system development; • regulation of branching involved in prostate gland morphogenesis; • male genitalia development; • GO:0009373 regulation of transcription, DNA-templated; • limb morphogenesis; • embryonic digit morphogenesis; • embryonic hindgut morphogenesis; • branch elongation of an epithelium; • transcription, DNA-templated; • multicellular organism development; • gland morphogenesis; • regulation of cell population proliferation; • embryonic limb morphogenesis; • prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis; • anterior/posterior pattern specification; • morphogenesis of an epithelial fold; • transcription by RNA polymerase II; • prostate gland development; • response to testosterone; • GO:0003257, GO:0010735, GO:1901228, GO:1900622, GO:1904488 positive regulation of transcription by RNA polymerase II;
	Sources:Amigo / QuickGO
Padrão de expressão RNA
	; ;
	Mais dados de referência de expressão
Ortólogos
	3239
	n/a
	ENSG00000128714
	n/a
	P35453
	n/a
	NM_000523
	n/a
	NP_000514
	n/a
	Wikidata
Ver/Editar Humano

A proteína homeobox Hox-D13 é uma proteína que em humanos é codificada pelo gene HOXD13. Este gene pertence à família dos genes homeobox.^[3]^[4]^[5] Os genes homeobox codificam uma família altamente conservada de fatores de transcrição que desempenham um papel importante na morfogênese em todos os organismos multicelulares.^[6]

Veja também editar

Homeobox

Referências editar

↑ «Doenças geneticamente associadas a HOXD13 ver/editar referências no wikidata»
↑ «Human PubMed Reference:»
↑ Acampora D, D'Esposito M, Faiella A, Pannese M, Migliaccio E, Morelli F, et al. (dezembro de 1989). «The human HOX gene family». Nucleic Acids Research. 17 (24): 10385–402. PMC 335308 . PMID 2574852. doi:10.1093/nar/17.24.10385
↑ McAlpine PJ, Shows TB (julho de 1990). «Nomenclature for human homeobox genes». Genomics. 7 (3). 460 páginas. PMID 1973146. doi:10.1016/0888-7543(90)90186-X
↑ «Entrez Gene: HOXD13 homeobox D13»
↑ Davis AP, Capecchi MR (abril de 1996). «A mutational analysis of the 5' HoxD genes: dissection of genetic interactions during limb development in the mouse». Development. 122 (4): 1175–85. PMID 8620844

Leitura adicional editar

Johnson RL, Tabin CJ (setembro de 1997). «Molecular models for vertebrate limb development». Cell. 90 (6): 979–90. PMID 9323126. doi:10.1016/S0092-8674(00)80364-5
Goodman FR (outubro de 2002). «Limb malformations and the human HOX genes». American Journal of Medical Genetics. 112 (3): 256–65. PMID 12357469. doi:10.1002/ajmg.10776
Scott MP (novembro de 1992). «Vertebrate homeobox gene nomenclature». Cell. 71 (4): 551–3. PMID 1358459. doi:10.1016/0092-8674(92)90588-4
D'Esposito M, Morelli F, Acampora D, Migliaccio E, Simeone A, Boncinelli E (maio de 1991). «EVX2, a human homeobox gene homologous to the even-skipped segmentation gene, is localized at the 5' end of HOX4 locus on chromosome 2». Genomics. 10 (1): 43–50. PMID 1675198. doi:10.1016/0888-7543(91)90482-T
Sarfarazi M, Akarsu AN, Sayli BS (agosto de 1995). «Localization of the syndactyly type II (synpolydactyly) locus to 2q31 region and identification of tight linkage to HOXD8 intragenic marker». Human Molecular Genetics. 4 (8): 1453–8. PMID 7581388. doi:10.1093/hmg/4.8.1453
Muragaki Y, Mundlos S, Upton J, Olsen BR (abril de 1996). «Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13». Science. 272 (5261): 548–51. Bibcode:1996Sci...272..548M. PMID 8614804. doi:10.1126/science.272.5261.548
Akarsu AN, Stoilov I, Yilmaz E, Sayli BS, Sarfarazi M (julho de 1996). «Genomic structure of HOXD13 gene: a nine polyalanine duplication causes synpolydactyly in two unrelated families». Human Molecular Genetics. 5 (7): 945–52. PMID 8817328. doi:10.1093/hmg/5.7.945
Warren ST (janeiro de 1997). «Polyalanine expansion in synpolydactyly might result from unequal crossing-over of HOXD13». Science. 275 (5298): 408–9. PMID 9005557. doi:10.1126/science.275.5298.408
Goodman FR, Mundlos S, Muragaki Y, Donnai D, Giovannucci-Uzielli ML, Lapi E, et al. (julho de 1997). «Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract». Proceedings of the National Academy of Sciences of the United States of America. 94 (14): 7458–63. Bibcode:1997PNAS...94.7458G. PMC 23843 . PMID 9207113. doi:10.1073/pnas.94.14.7458
Goodman F, Giovannucci-Uzielli ML, Hall C, Reardon W, Winter R, Scambler P (outubro de 1998). «Deletions in HOXD13 segregate with an identical, novel foot malformation in two unrelated families». American Journal of Human Genetics. 63 (4): 992–1000. PMC 1377502 . PMID 9758628. doi:10.1086/302070
Limongi MZ, Pelliccia F, Gaddini L, Rocchi A (2000). «Clustering of two fragile sites and seven homeobox genes in human chromosome region 2q31-->q32.1». Cytogenetics and Cell Genetics. 90 (1–2): 151–3. PMID 11060466. doi:10.1159/000015651
Harrington JJ, Sherf B, Rundlett S, Jackson PD, Perry R, Cain S, et al. (maio de 2001). «Creation of genome-wide protein expression libraries using random activation of gene expression». Nature Biotechnology. 19 (5): 440–5. PMID 11329013. doi:10.1038/88107
Goodman FR, Majewski F, Collins AL, Scambler PJ (fevereiro de 2002). «A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly». American Journal of Human Genetics. 70 (2): 547–55. PMC 384929 . PMID 11778160. doi:10.1086/338921
Kosaki K, Kosaki R, Suzuki T, Yoshihashi H, Takahashi T, Sasaki K, et al. (fevereiro de 2002). «Complete mutation analysis panel of the 39 human HOX genes». Teratology. 65 (2): 50–62. PMID 11857506. doi:10.1002/tera.10009
Debeer P, Bacchelli C, Scambler PJ, De Smet L, Fryns JP, Goodman FR (novembro de 2002). «Severe digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine tract expansion in HOXA13». Journal of Medical Genetics. 39 (11): 852–6. PMC 1735011 . PMID 12414828. doi:10.1136/jmg.39.11.852
Caronia G, Goodman FR, McKeown CM, Scambler PJ, Zappavigna V (abril de 2003). «An I47L substitution in the HOXD13 homeodomain causes a novel human limb malformation by producing a selective loss of function». Development. 130 (8): 1701–12. PMID 12620993. doi:10.1242/dev.00396

[1] «Doenças geneticamente associadas a HOXD13 ver/editar referências no wikidata»

[2] «Human PubMed Reference:»

[pmid2574852-3] Acampora D, D'Esposito M, Faiella A, Pannese M, Migliaccio E, Morelli F, et al. (dezembro de 1989). «The human HOX gene family». Nucleic Acids Research. 17 (24): 10385–402. PMC 335308 . PMID 2574852. doi:10.1093/nar/17.24.10385

[pmid1973146-4] McAlpine PJ, Shows TB (julho de 1990). «Nomenclature for human homeobox genes». Genomics. 7 (3). 460 páginas. PMID 1973146. doi:10.1016/0888-7543(90)90186-X

[entrez-5] «Entrez Gene: HOXD13 homeobox D13»

[pmid8620844-6] Davis AP, Capecchi MR (abril de 1996). «A mutational analysis of the 5' HoxD genes: dissection of genetic interactions during limb development in the mouse». Development. 122 (4): 1175–85. PMID 8620844

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