InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: NKX3-2

Summary

InnateDB Protein

IDBP-10167.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

NKX3-2

Protein Name

NK3 homeobox 2

Synonyms

BAPX1; NKX3.2; NKX3B; SMMD;

Species

Homo sapiens

Ensembl Protein

ENSP00000371875

InnateDB Gene

IDBG-10163 (NKX3-2)

Protein Structure

UniProt Annotation

Function

Transcriptional repressor that acts as a negative regulator of chondrocyte maturation. PLays a role in distal stomach development; required for proper antral-pyloric morphogenesis and development of antral-type epithelium. In concert with GSC, defines the structural components of the middle ear; required for tympanic ring and gonium development and in the regulation of the width of the malleus (By similarity). {ECO:0000250}.

Subcellular Localization

Nucleus {ECO:0000305}.

Disease Associations

Spondylo-megaepiphyseal-metaphyseal dysplasia (SMMD) [MIM:613330]: 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. {ECO:0000269PubMed:20004766}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed at highest levels in cartilage, bone (osteosarcoma) and gut (small intestine and colon), whereas moderate expression is seen in trachea and brain. Expressed in visceral mesoderm and embryonic skeleton. {ECO:0000269PubMed:20004766}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	9 [view]
Protein-Protein	9 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000978	RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0001078	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription
GO:0003677	DNA binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0043565	sequence-specific DNA binding

Biological Process

GO:0000122	negative regulation of transcription from RNA polymerase II promoter
GO:0001501	skeletal system development
GO:0006355	regulation of transcription, DNA-templated
GO:0006366	transcription from RNA polymerase II promoter
GO:0007368	determination of left/right symmetry
GO:0031016	pancreas development
GO:0032331	negative regulation of chondrocyte differentiation
GO:0042474	middle ear morphogenesis
GO:0043066	negative regulation of apoptotic process
GO:0048513	organ development
GO:0048536	spleen development
GO:0048645	organ formation
GO:0048705	skeletal system morphogenesis
GO:0048706	embryonic skeletal system development
GO:0055123	digestive system development
GO:0060576	intestinal epithelial cell development