Property Summary

NCBI Gene PubMed Count 56
Grant Count 319
R01 Count 170
Funding $68,994,000.86
PubMed Score 186.49
PubTator Score 589.65

Knowledge Summary

Patent

No data available

Synonym

Accession P35453
Symbols BDE
SPD
BDSD
SPD1
HOX4I

Gene

 GO Component (1)

Gene RIF (40)

PMID Text
26617782 HOXD13 methylation is a common event in primary breast cancer and is associated with poor survival of breast cancer patients.
26252089 A 27 bp expansion mutation in exon 1 of HOXD13 was associated with autosomal dominant synpolydactyly in a Chinese family.
24789103 Linkage analysis of the syndactyly type 1 subtype c (SD1-c) phenotype based on two Chinese families with 3/4 fingers syndactyly shows that two missense mutations in codon 306 of HOXD13 underlie SD1-c.
24055421 Molecular characteristics of a HOXD13 synpolydactyly 1 nonsense mutation in a Chinese family.
23984819 A genome-wide array-comparative genomic hybridization (aCGH) analysis revealed global chromosomal aberration in MWCNTs-treated clones, predominantly at chromosome 2q31-32, where the potential oncogenes HOXD9 and HOXD13 are located
23958061 Data indicate increased levels of reactive oxygen species (ROS) were detected in bone marrow nucleated cells (BMNC) that express CD71 in in NUP98-HOXD13 (NHD13) transgenic mice, a murine model for myelodysplastic syndromes (MDS).
23948678 Identification of a novel c.659G>C (p.Gly220Ala) mutation outside the HOXD13 homeodomain responsible for synpolydactyly in a Chinese family.
22613470 findings show that expression of NUP98-HOXD13 impairs class switch recombination and reduces the antibody-mediated immune response, in addition to its role in leukemia
22406499 Correlation between Synpolydactyly and alanine expansion in HOXD13.
22374128 This finding expands the phenotypic spectrum associated with HOXD13 mutations and advances our understanding of human limb development.
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AA Sequence

MSRAGSWDMDGLRADGGGAGGAPASSSSSSVAAAAASGQCRGFLSAPVFAGTHSGRAAAAAAAAAAAAAA      1 - 70
ASGFAYPGTSERTGSSSSSSSSAVVAARPEAPPAKECPAPTPAAAAAAPPSAPALGYGYHFGNGYYSCRM     71 - 140
SHGVGLQQNALKSSPHASLGGFPVEKYMDVSGLASSSVPANEVPARAKEVSFYQGYTSPYQHVPGYIDMV    141 - 210
STFGSGEPRHEAYISMEGYQSWTLANGWNSQVYCTKDQPQGSHFWKSSFPGDVALNQPDMCVYRRGRKKR    211 - 280
VPYTKLQLKELENEYAINKFINKDKRRRISAATNLSERQVTIWFQNRRVKDKKIVSKLKDTVS           281 - 343
//

Text Mined References (59)

PMID Year Title
26617782 2015 HOXD13 methylation status is a prognostic indicator in breast cancer.
26581570 2016 A homozygous HOXD13 missense mutation causes a severe form of synpolydactyly with metacarpal to carpal transformation.
26252089 2015 [Mutation analysis of HOXD13 gene in a Chinese family affected with autosomal dominant synpolydactyly].
24789103 2014 Mutations in the homeodomain of HOXD13 cause syndactyly type 1-c in two Chinese families.
24055421 2013 A splice donor site mutation in HOXD13 underlies synpolydactyly with cortical bone thinning.
23995701 2013 Distinct global shifts in genomic binding profiles of limb malformation-associated HOXD13 mutations.
23984819 2013 Focal amplification of HOXD-harboring chromosome region is implicated in multiple-walled carbon nanotubes-induced carcinogenicity.
23958061 2014 Oxidative stress leads to increased mutation frequency in a murine model of myelodysplastic syndrome.
23948678 2013 A novel mutation outside homeodomain of HOXD13 causes synpolydactyly in a Chinese family.
22613470 2012 A NUP98-HOXD13 leukemic fusion gene leads to impaired class switch recombination and antibody production.
More...