Entity Details

Primary name HOXA11
Entity type gene
Source Source Link

Details

PrimaryID3207
RefseqGeneNG_012079
SymbolHOXA11
Namehomeobox A11
Chromosome7
Location7p15.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1993-02-18
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsHXA11_HUMAN

GO terms

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GOName
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0001501 skeletal system development
GO:0001656 metanephros development
GO:0001658 branching involved in ureteric bud morphogenesis
GO:0001759 organ induction
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005667 transcription regulator complex
GO:0006357 regulation of transcription by RNA polymerase II
GO:0007275 multicellular organism development
GO:0007283 spermatogenesis
GO:0007338 single fertilization
GO:0007501 mesodermal cell fate specification
GO:0008584 male gonad development
GO:0009653 anatomical structure morphogenesis
GO:0009952 anterior/posterior pattern specification
GO:0009953 dorsal/ventral pattern formation
GO:0009954 proximal/distal pattern formation
GO:0010720 positive regulation of cell development
GO:0030326 embryonic limb morphogenesis
GO:0032332 positive regulation of chondrocyte differentiation
GO:0032991 protein-containing complex
GO:0032993 protein-DNA complex
GO:0035115 embryonic forelimb morphogenesis
GO:0042733 embryonic digit morphogenesis
GO:0045893 positive regulation of transcription, DNA-templated
GO:0048589 developmental growth
GO:0048856 anatomical structure development
GO:0060065 uterus development
GO:0060272 embryonic skeletal joint morphogenesis
GO:0060351 cartilage development involved in endochondral bone morphogenesis
GO:1990837 sequence-specific double-stranded DNA binding

Diseases

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Disease IDSourceNameDescription
605432 OMIMRadioulnar synostosis with amegakaryocytic thrombocytopenia 1 (RUSAT1)The syndrome consists of an unusual association of bone marrow failure and skeletal defects. Patients have the same skeletal defects, the proximal fusion of the radius and ulna, resulting in extremely limited pronation and supination of the forearm. Some patients have also symptomatic thrombocytopenia, with bruising and bleeding problems since birth, necessitating correction by bone marrow or umbilical-cord stem-cell transplantation. The disease is caused by variants affecting the gene represented in this entry.