Entity Details

Primary name HOXD10
Entity type gene
Source Source Link

Details

PrimaryID3236
RefseqGeneNG_008133
SymbolHOXD10
Namehomeobox D10
Chromosome2
Location2q31.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1993-02-18
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsHXD10_HUMAN

GO terms

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GOName
GO:0000785 chromatin
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific
GO:0003682 chromatin binding
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005829 cytosol
GO:0006357 regulation of transcription by RNA polymerase II
GO:0007338 single fertilization
GO:0007519 skeletal muscle tissue development
GO:0008344 adult locomotory behavior
GO:0009952 anterior/posterior pattern specification
GO:0009954 proximal/distal pattern formation
GO:0021520 spinal cord motor neuron cell fate specification
GO:0030326 embryonic limb morphogenesis
GO:0035136 forelimb morphogenesis
GO:0035137 hindlimb morphogenesis
GO:0036464 cytoplasmic ribonucleoprotein granule
GO:0048704 embryonic skeletal system morphogenesis
GO:0048935 peripheral nervous system neuron development
GO:0050905 neuromuscular process
GO:1990837 sequence-specific double-stranded DNA binding

Diseases

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Disease IDSourceNameDescription
192950 OMIMVertical talus, congenital (CVT)A rare malformation characterized by vertical orientation of the talus with a rigid dorsal dislocation of the navicular, equinus deformity of the calcaneus, abduction deformity of the forefoot, and contracture of the soft tissues of the hind- and mid-foot. This condition is usually associated with multiple other congenital deformities and only rarely is an isolated deformity with familial occurrence. The disease is caused by variants affecting the gene represented in this entry.