Property Summary

NCBI Gene PubMed Count 56
PubMed Score 186.49
PubTator Score 589.65

Knowledge Summary


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 GO Component (1)

Pathway (1)

Gene RIF (40)

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.
22373878 Misexpression of HOXD13(G11A) in the developing chick limb phenocopied the human SPD phenotype
22161087 HOXD13 gene mutation was responsible for the synpolydactyly (SPD) phenotype in this family.
21814222 results show the first nonsense mutation in the HOXD13 gene underlying a severe form of SPD in the homozygous state, and a milder form of SPD with approximately 50% penetrance in the heterozygous state.
21068127 Variable skeletal phenotype in 2q31 deletion patients is a result of hemizygosity for the HOXD genes.
20974300 a duplication mutation, c. 186-212dup, in exon 1 of the HOXD13 gene in the affected individuals in a Chinese family with unusual clinical manifestations of synpolydactyly
19703996 Geminin, which interacts with HOXD13 as well, blocks HOXD13-mediated assembly of pre-replication complex proteins and inhibits HOXD13-induced DNA replication.
19686284 results expand the spectrum of HOXD13 mutations;suggest that not only the size of the polyalanine repeat but also other unknown factors might play a role in synpolydactyly
19540081 data show no significant difference in HOXD11, HOXD12 & HOXD13 genotype frequencies between the autism spectrum disorder & healthy controls, but one SNP in promoter region of HOXD11 was observed in only 4 patients with ASD
19540081 Observational study of gene-disease association. (HuGE Navigator)
19488988 Detection of the HOXD13 homeoprotein in pancreas-tissue microarrays shows that its negative expression has a significant and adverse effect on the prognosis of patients with pancreatic cancer.
19453261 Observational study of gene-disease association. (HuGE Navigator)
19060004 G220V missense mutation of HOXD13 caused synpolydactyly in a Greek family.
18758158 Hoxd13 and Fhl1 were expressed in the interdigital tissues of E12.5 rat embryo. Luciferase assay and EMSA identified a novel promoter region of Fhl1 that directly interacts with Hoxd13
18566322 transgenic mice expressing NUP98-HOXD13 (NHD13) fusion gene develop myelodysplastic syndrome, and more than half eventually progress to acute leukemia
18399101 analysis of HOXD13 in 100 patients with limb malformations; 7 novel mutations in the coding region & 2 novel mutations in the 5'-untranslated region were identified
18244901 The results shows that HOXD13 gene mutation was not involved in outbreak in idiopathic congenital talipes equinovarus, but changes of HOXD13 and FHL1 gene expression related to the development of talipes equinovarus malformation.
18072967 We showed that SPD1 phenotype segregates with an identical expansion mutation of 21 bp in HOXD13. We show that HOXD13 polyalanine repeat is polymorphic, and the expansion of 2 alanine residues, is without clinical consequences.
17853405 Early human development shows spatiotemporal differences of HOXD13 expression in the endodermal and mesodermal structures.
17656229 findings strongly suggest that specific mutations in HOXD13 gene may cause both hypoplastic synpolydactyly and hypospadias
17236141 There is a link between HOXD13 and two additional limb phenotypes--syndactyly type V and brachydactyly type A4--and demonstrated that a polyalanine contraction in HOXD13, most likely, led to other digital anomalies but not to synpolydactyly.
17216618 Observational study of gene-disease association. (HuGE Navigator)
16861351 synergism between NUP98-HOX and wt-Flt3 is the result of the ability of Flt3 to increase proliferation of myeloid progenitors blocked in differentiation by NUP98-HOX fusions, revealing a direct role for wt-Flt3 in the pathobiology of AML.
16331564 Data show that HOXD13 are important susceptible genes of idiopathic congenital talipes equinovarus.
16331564 Observational study of gene-disease association. (HuGE Navigator)
15952114 Results suggest that synpolydactyly in this kindred may be caused by polyalanine expansion in HOXD13.
15696469 This is the first report on prenatal diagnosis of Synpolydactyly by detecting the HOXD13 polyalanine expansion in the Han population of the Chinese mainland.
12649808 Missense mutations in this protein are associated with brachydactyly types D and E.
12620993 Data show that a mutant HOXD13 protein that recognizes only a subset of sites recognized by the wild-type protein causes a novel human limb malformation.
11778160 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly
8817328 Gene Structure and Report of Nine Polyalanine Duplications in Families with Synpolydactyly, Type II

AA Sequence


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.
22406499 2012 Eight-alanine duplication in homeobox D13 in a Chinese family with synpolydactyly.
22374128 2012 A novel non-synonymous mutation in the homeodomain of HOXD13 causes synpolydactyly in a Chinese family.
22373878 2012 An N-terminal G11A mutation in HOXD13 causes synpolydactyly and interferes with Gli3R function during limb pre-patterning.
22161087 2011 [Synpolydactyly in a Chinese kindred: mutation detection, prenatal ultrasonographic and molecular diagnosis].
21814222 2011 A nonsense mutation in the HOXD13 gene underlies synpolydactyly with incomplete penetrance.
21068127 2011 2q31.1 microdeletion syndrome: redefining the associated clinical phenotype.
20974300 Polyalanine repeat expansion mutation of the HOXD13 gene in a Chinese family with unusual clinical manifestations of synpolydactyly.
19703996 2009 HOXD13 binds DNA replication origins to promote origin licensing and is inhibited by geminin.
19686284 2009 Polyalanine repeat expansion mutations in the HOXD13 gene in Pakistani families with synpolydactyly.
19540081 2010 Study of HOXD genes in autism particularly regarding the ratio of second to fourth digit length.
19488988 2009 HOX D13 expression across 79 tumor tissue types.
19453261 2009 High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men.
19060004 2009 A G220V substitution within the N-terminal transcription regulating domain of HOXD13 causes a variant synpolydactyly phenotype.
19006232 2008 Identification of a HOXD13 mutation in a VACTERL patient.
18758158 2008 HOXD13 may play a role in idiopathic congenital clubfoot by regulating the expression of FHL1.
18566322 2008 Leukemic transformation in mice expressing a NUP98-HOXD13 transgene is accompanied by spontaneous mutations in Nras, Kras, and Cbl.
18399101 Novel mutations of the HOXD13 gene in hand and foot malformations.
18244901 2008 [Research of HOXD13 and FHL1 in idiopathic congenital talipes equinovarus].
18072967 2007 Synpolydactyly and HOXD13 polyalanine repeat: addition of 2 alanine residues is without clinical consequences.
17853405 2007 Epithelial and muscular regionalization of the human developing anorectum.
17656229 2007 Association of hypospadias with hypoplastic synpolydactyly and role of HOXD13 gene mutations.
17236141 2007 Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome.
17216618 2007 Allelic variants in HOX genes in cryptorchidism.
16861351 2006 The Flt3 receptor tyrosine kinase collaborates with NUP98-HOX fusions in acute myeloid leukemia.
16331564 2005 [Analysis of association between 5' HOXD gene and idiopathic congenital talipes equinovarus].
16222680 2005 A 72-year-old Danish puzzle resolved--comparative analysis of phenotypes in families with different-sized HOXD13 polyalanine expansions.
15952114 2005 Mutation analysis of HOXD13 gene in a Chinese pedigree with synpolydactyly.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15696469 2005 [HOXD13 polyalanine tract expansion in synpolydactyly: mutation detection and prenatal diagnosis in a large Chinese family].
12900906 2003 An acceptor splice site mutation in HOXD13 results in variable hand, but consistent foot malformations.
12649808 2003 Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E.
12620993 2003 An I47L substitution in the HOXD13 homeodomain causes a novel human limb malformation by producing a selective loss of function.
12414828 2002 Severe digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine tract expansion in HOXA13.
12357469 2002 Limb malformations and the human HOX genes.
11857506 2002 Complete mutation analysis panel of the 39 human HOX genes.
11778160 2002 A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly.
11329013 2001 Creation of genome-wide protein expression libraries using random activation of gene expression.
11060466 2000 Clustering of two fragile sites and seven homeobox genes in human chromosome region 2q31-->q32.1.
9758628 1998 Deletions in HOXD13 segregate with an identical, novel foot malformation in two unrelated families.
9323126 1997 Molecular models for vertebrate limb development.
9207113 1997 Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract.
9005557 1997 Polyalanine expansion in synpolydactyly might result from unequal crossing-over of HOXD13.
8817328 1996 Genomic structure of HOXD13 gene: a nine polyalanine duplication causes synpolydactyly in two unrelated families.
8614804 1996 Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13.
7581388 1995 Localization of the syndactyly type II (synpolydactyly) locus to 2q31 region and identification of tight linkage to HOXD8 intragenic marker.
2574852 1989 The human HOX gene family.
1973146 1990 Nomenclature for human homeobox genes.
1675198 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.
1358459 1992 Vertebrate homeobox gene nomenclature.