• Gene id: 579

Gene Summary

• Gene Symbol: NKX3-2   Gene   UCSC   Ensembl
• Aliases: BAPX1, NKX3.2, NKX3B, SMMD
• Gene name: NK3 homeobox 2
• Alternate names: homeobox protein Nkx-3.2, bagpipe homeobox protein homolog 1, homeobox protein NK-3 homolog B,
• Gene location: 4p15.33 (13544507: 13540829)     Exons: 2     NC_000004.12
• Gene summary(Entrez): This gene encodes a member of the NK family of homeobox-containing proteins. The encoded protein may play a role in skeletal development. [provided by RefSeq, Jul 2008]
• OMIM: 602183

Protein Summary

• Protein general information: P78367  
  • Name: Homeobox protein Nkx 3.2 (Bagpipe homeobox protein homolog 1) (Homeobox protein NK 3 homolog B)
  • Length: 333  
  • Mass: 34814
  • 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
• Sequence:

  MAVRGANTLTSFSIQAILNKKEERGGLAAPEGRPAPGGTAASVAAAPAVCCWRLFGERDAGALGGAEDSLLASPA
  GTRTAAGRTAESPEGWDSDSALSEENESRRRCADARGASGAGLAGGSLSLGQPVCELAASKDLEEEAAGRSDSEM
  SASVSGDRSPRTEDDGVGPRGAHVSALCSGAGGGGGSGPAGVAEEEEEPAAPKPRKKRSRAAFSHAQVFELERRF
  NHQRYLSGPERADLAASLKLTETQVKIWFQNRRYKTKRRQMAADLLASAPAAKKVAVKVLVRDDQRQYLPGEVLR
  PPSLLPLQPSYYYPYYCLPGWALSTCAAAAGTQ

• Structural information:
  • Interpro: IPR009057  IPR017970  IPR001356  IPR020479  
  • Prosite: PS00027 PS50071
  • CDD: cd00086
  • STRING: ENSP00000371875
• Other Databases: GeneCards:  NKX3-2  Malacards:  NKX3-2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0043565	sequence-specific DNA binding	IBA	molecular function
GO:0030154	cell differentiation	IBA	biological process
GO:0003700	DNA-binding transcription factor activity	IBA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0032331	negative regulation of chondrocyte differentiation	ISS	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0001501	skeletal system development	TAS	biological process
GO:0006366	transcription by RNA polymerase II	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0001501	skeletal system development	IEA	biological process
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0048513	animal organ development	IEA	biological process
GO:0048645	animal organ formation	IEA	biological process
GO:0048705	skeletal system morphogenesis	IEA	biological process
GO:0048706	embryonic skeletal system development	IEA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA	molecular function
GO:0007368	determination of left/right symmetry	IEA	biological process
GO:0031016	pancreas development	IEA	biological process
GO:0032331	negative regulation of chondrocyte differentiation	IEA	biological process
GO:0042474	middle ear morphogenesis	IEA	biological process
GO:0048536	spleen development	IEA	biological process
GO:0055123	digestive system development	IEA	biological process
GO:0060576	intestinal epithelial cell development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
Spondylo-megaepiphyseal-metaphyseal dysplasia	KEGG:H00863
Spondylo-megaepiphyseal-metaphyseal dysplasia	KEGG:H00863
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)