Entity Details

Primary name NKX3-2
Entity type gene
Source Source Link

Details

PrimaryID579
RefseqGeneNG_023192
SymbolNKX3-2
NameNK3 homeobox 2
Chromosome4
Location4p15.33
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-12
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsNKX32_HUMAN

GO terms

Show/Hide Table
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:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific
GO:0001501 skeletal system development
GO:0005634 nucleus
GO:0006357 regulation of transcription by RNA polymerase II
GO:0006366 transcription by RNA polymerase II
GO:0007368 determination of left/right symmetry
GO:0030154 cell differentiation
GO:0031016 pancreas development
GO:0032331 negative regulation of chondrocyte differentiation
GO:0042474 middle ear morphogenesis
GO:0043066 negative regulation of apoptotic process
GO:0048536 spleen development
GO:0048645 animal organ formation
GO:0048705 skeletal system morphogenesis
GO:0048706 embryonic skeletal system development
GO:0060576 intestinal epithelial cell development
GO:1990837 sequence-specific double-stranded DNA binding

Diseases

Show/Hide Table
Disease IDSourceNameDescription
613330 OMIMSpondylo-megaepiphyseal-metaphyseal dysplasia (SMMD)A skeletal dysplasia characterized by disproportionate short stature with a short and stiff neck and trunk, relatively long limbs that may show flexion contractures of the distal joints, delayed and impaired ossification of the vertebral bodies, the presence of large epiphyseal ossification centers and wide growth plates in the long tubular bones, and numerous pseudoepiphyses of the short tubular bones in hands and feet. The disease is caused by variants affecting the gene represented in this entry.

Interactions

7 interactions