Gene: HOXD10

Alternate names for this Gene: HOX4|HOX4D|HOX4E|Hox-4.4

Gene Summary: This gene is a member of the Abd-B homeobox family and encodes a protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox D genes located on chromosome 2. The encoded nuclear protein functions as a sequence-specific transcription factor that is expressed in the developing limb buds and is involved in differentiation and limb development. Mutations in this gene have been associated with Wilm's tumor and congenital vertical talus (also known as 'rocker-bottom foot' deformity or congenital convex pes valgus) and/or a foot deformity resembling that seen in Charcot-Marie-Tooth disease.

Gene is located in Chromosome: 2

Location in Chromosome : 2q31.1

Description of this Gene: homeobox D10

Type of Gene: protein-coding

Gene: HOXD11

Alternate names for this Gene: HOX4|HOX4F

Gene Summary: This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located in a cluster on chromosome 2. Deletions that remove the entire HOXD gene cluster or the 5' end of this cluster have been associated with severe limb and genital abnormalities. The product of the mouse Hoxd11 gene plays a role in forelimb morphogenesis.

Gene is located in Chromosome: 2

Location in Chromosome : 2q31.1

Description of this Gene: homeobox D11

Type of Gene: protein-coding

rs863678 in HOXD10;HOXD11 gene and Creatinine measurement, serum (procedure) PMID 31015462 2019 Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis.

rs863678 in HOXD10;HOXD11 gene and Hematocrit procedure PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs863678 in HOXD10;HOXD11 gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.