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Gene Review

HOXD8  -  homeobox D8

Homo sapiens

Synonyms: HOX4, HOX4E, HOX5.4, Homeobox protein Hox-4E, Homeobox protein Hox-5.4, ...
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Disease relevance of HOXD8


High impact information on HOXD8

  • Specific target recognition and functional interaction with HMG1 can be transferred to HOXD8 by homeodomain swapping [3].
  • The presence of this duplication confirmed the status of four normal gene carriers, one incomplete penetrance and two affected individuals who were recombinants for HOXD8 or HOXD13-CA repeat markers [4].
  • Sixty-two meioses from a kindred with 425 individuals were used to map the SPD locus to 2q31 region, approximately 1.7 cM (Lod score = 12.96) centromeric to HOXD8 intragenic marker [2].
  • Dinucleotide repeat polymorphism in the HOX4E locus [5].
  • The HOXD8 locus (2q31) is linked to type I diabetes. Interaction with chromosome 6 and 11 disease susceptibility genes [6].

Biological context of HOXD8

  • This suggests that aside from its effects during embryogenesis, the HOX4E gene may play a continuing role in adult genitourinary tract function [7].
  • The N-terminal portion of the HOX4E activation domain contains several consensus sequence elements also found in other mammalian AbdB family genes [7].

Other interactions of HOXD8

  • An updated order of D2S142-D2S111-(D2S335/D2S333)-D2S326-D2 S1238-SPD- (HOXD8/D2S1244)-(D2S300/D2S138)-D2S148- D2S324- D2S1384-D2S434 [sequence:see text] was deduced from meiotic recombination events [2].

Analytical, diagnostic and therapeutic context of HOXD8

  • Northern blot analysis of HOX4E expression in adult tissues showed a major human transcript of 1.8 kb, the expression of which was largely limited to tissues of the male and female urogenital tracts [7].


  1. Up-regulation of HOXC6, HOXD1, and HOXD8 homeobox gene expression in human neuroblastoma cells following chemical induction of differentiation. Manohar, C.F., Salwen, H.R., Furtado, M.R., Cohn, S.L. Tumour Biol. (1996) [Pubmed]
  2. Localization of the syndactyly type II (synpolydactyly) locus to 2q31 region and identification of tight linkage to HOXD8 intragenic marker. Sarfarazi, M., Akarsu, A.N., Sayli, B.S. Hum. Mol. Genet. (1995) [Pubmed]
  3. HMG1 interacts with HOX proteins and enhances their DNA binding and transcriptional activation. Zappavigna, V., Falciola, L., Helmer-Citterich, M., Mavilio, F., Bianchi, M.E. EMBO J. (1996) [Pubmed]
  4. Genomic structure of HOXD13 gene: a nine polyalanine duplication causes synpolydactyly in two unrelated families. Akarsu, A.N., Stoilov, I., Yilmaz, E., Sayli, B.S., Sarfarazi, M. Hum. Mol. Genet. (1996) [Pubmed]
  5. Dinucleotide repeat polymorphism in the HOX4E locus. Rosen, D.R., Brown, R.H. Hum. Mol. Genet. (1993) [Pubmed]
  6. The HOXD8 locus (2q31) is linked to type I diabetes. Interaction with chromosome 6 and 11 disease susceptibility genes. Owerbach, D., Gabbay, K.H. Diabetes (1995) [Pubmed]
  7. Human HOX4E: a gene strongly expressed in the adult male and female urogenital tracts. Redline, R.W., Williams, A.J., Patterson, P., Collins, T. Genomics (1992) [Pubmed]
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