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Aliases for NKX3-2 Gene

Aliases for NKX3-2 Gene

  • NK3 Homeobox 2 2 3
  • BAPX1 3 4 6
  • Bagpipe Homeobox Protein Homolog 1 3 4
  • Homeobox Protein NK-3 Homolog B 3 4
  • NKX3B 3 4
  • SMMD 3 6
  • Bagpipe Homeobox Homolog 1 (Drosophila) 2
  • Homeobox Protein Nkx-3.2 3
  • NKX3.2 3

External Ids for NKX3-2 Gene

Previous HGNC Symbols for NKX3-2 Gene

  • BAPX1

Previous GeneCards Identifiers for NKX3-2 Gene

  • GC04M013152
  • GC04M012880

Summaries for NKX3-2 Gene

Entrez Gene Summary for NKX3-2 Gene

  • 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]

GeneCards Summary for NKX3-2 Gene

NKX3-2 (NK3 Homeobox 2) is a Protein Coding gene. Diseases associated with NKX3-2 include spondylo-megaepiphyseal-metaphyseal dysplasia and metaphyseal dysplasia. Among its related pathways are Endochondral Ossification. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is NKX2-5.

UniProtKB/Swiss-Prot for NKX3-2 Gene

  • 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).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NKX3-2 Gene

Genomics for NKX3-2 Gene

Regulatory Elements for NKX3-2 Gene

Transcription factor binding sites by QIAGEN in the NKX3-2 gene promoter:

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for NKX3-2 Gene

Start:
13,540,830 bp from pter
End:
13,545,050 bp from pter
Size:
4,221 bases
Orientation:
Minus strand

Genomic View for NKX3-2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NKX3-2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NKX3-2 Gene

Proteins for NKX3-2 Gene

  • Protein details for NKX3-2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P78367-NKX32_HUMAN
    Recommended name:
    Homeobox protein Nkx-3.2
    Protein Accession:
    P78367
    Secondary Accessions:
    • Q2M2I7

    Protein attributes for NKX3-2 Gene

    Size:
    333 amino acids
    Molecular mass:
    34814 Da
    Quaternary structure:
    No Data Available

neXtProt entry for NKX3-2 Gene

Proteomics data for NKX3-2 Gene at MOPED

Post-translational modifications for NKX3-2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NKX3-2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for NKX3-2 Gene

Domains for NKX3-2 Gene

Gene Families for NKX3-2 Gene

HGNC:
  • NKL :Homeoboxes / ANTP class : NKL subclass

Suggested Antigen Peptide Sequences for NKX3-2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P78367

UniProtKB/Swiss-Prot:

NKX32_HUMAN :
  • P78367
Domain:
  • Contains 1 homeobox DNA-binding domain.
Family:
  • Belongs to the NK-3 homeobox family.
genes like me logo Genes that share domains with NKX3-2: view

Function for NKX3-2 Gene

Molecular function for NKX3-2 Gene

UniProtKB/Swiss-Prot 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).

Gene Ontology (GO) - Molecular Function for NKX3-2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IEA --
GO:0001078 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription IEA --
GO:0003677 DNA binding --
genes like me logo Genes that share ontologies with NKX3-2: view
genes like me logo Genes that share phenotypes with NKX3-2: view

Animal Models for NKX3-2 Gene

MGI Knock Outs for NKX3-2:

Animal Model Products

CRISPR Products

miRNA for NKX3-2 Gene

miRTarBase miRNAs that target NKX3-2

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NKX3-2

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for NKX3-2 Gene

Localization for NKX3-2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NKX3-2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NKX3-2 Gene COMPARTMENTS Subcellular localization image for NKX3-2 gene
Compartment Confidence
nucleus 4

Gene Ontology (GO) - Cellular Components for NKX3-2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with NKX3-2: view

Pathways for NKX3-2 Gene

SuperPathways for NKX3-2 Gene

Superpath Contained pathways
1 Endochondral Ossification
genes like me logo Genes that share pathways with NKX3-2: view

Pathways by source for NKX3-2 Gene

1 BioSystems pathway for NKX3-2 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for NKX3-2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0001501 skeletal system development TAS 9344671
GO:0006366 transcription from RNA polymerase II promoter TAS 9344671
GO:0007368 determination of left/right symmetry IEA --
GO:0031016 pancreas development IEA --
genes like me logo Genes that share ontologies with NKX3-2: view

Transcripts for NKX3-2 Gene

mRNA/cDNA for NKX3-2 Gene

(2) Additional mRNA sequences :
(5) Selected AceView cDNA sequences:
(1) REFSEQ mRNAs :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for NKX3-2 Gene

NK3 homeobox 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NKX3-2

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for NKX3-2

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for NKX3-2 Gene

No ASD Table

Relevant External Links for NKX3-2 Gene

GeneLoc Exon Structure for
NKX3-2
ECgene alternative splicing isoforms for
NKX3-2

Expression for NKX3-2 Gene

mRNA expression in normal human tissues for NKX3-2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NKX3-2 Gene

This gene is overexpressed in Colon - Sigmoid (19.2), Colon - Transverse (8.4), and Stomach (4.2).

SOURCE GeneReport for Unigene cluster for NKX3-2 Gene Hs.590927

mRNA Expression by UniProt/SwissProt for NKX3-2 Gene

P78367-NKX32_HUMAN
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.
genes like me logo Genes that share expressions with NKX3-2: view

In Situ Assay Products

No data available for Protein expression for NKX3-2 Gene

Orthologs for NKX3-2 Gene

This gene was present in the common ancestor of animals.

Orthologs for NKX3-2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NKX3-2 35
  • 99.38 (n)
  • 100 (a)
NKX3-2 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NKX3-2 35
  • 89.7 (n)
  • 90.3 (a)
NKX3-2 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NKX3-2 35
  • 87.71 (n)
  • 89.43 (a)
NKX3-2 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nkx3-2 35
  • 83.98 (n)
  • 85.29 (a)
Nkx3-2 16
Nkx3-2 36
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NKX3-2 36
  • 72 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia bapx1-A 35
tropical clawed frog
(Silurana tropicalis)
Amphibia nkx3-2 35
  • 66.67 (n)
  • 67.78 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6919 35
zebrafish
(Danio rerio)
Actinopterygii bapx1 35
nkx3.2 35
  • 67.49 (n)
  • 67.49 (a)
nkx3.2 36
  • 64 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta bap 36
  • 25 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ceh-27 36
  • 19 (a)
ManyToMany
Species with no ortholog for NKX3-2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NKX3-2 Gene

ENSEMBL:
Gene Tree for NKX3-2 (if available)
TreeFam:
Gene Tree for NKX3-2 (if available)

Paralogs for NKX3-2 Gene

genes like me logo Genes that share paralogs with NKX3-2: view

Variants for NKX3-2 Gene

Sequence variations from dbSNP and Humsavar for NKX3-2 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type MAF
rs1476211 -- 13,540,412(-) AGGAG(C/T)GTTTC downstream-variant-500B
rs3733554 -- 13,541,260(+) CTTCC(A/G)GGGCT utr-variant-3-prime
rs3756212 -- 13,544,668(+) CCTTT(A/C)GCAGC upstream-variant-2KB
rs3756213 -- 13,544,933(+) GTAGC(A/C)GCGGC upstream-variant-2KB
rs3822226 -- 13,541,050(+) AGGGC(A/G)GAAGG utr-variant-3-prime

Relevant External Links for NKX3-2 Gene

HapMap Linkage Disequilibrium report
NKX3-2
Human Gene Mutation Database (HGMD)
NKX3-2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for NKX3-2 Gene

Disorders for NKX3-2 Gene

(1) OMIM Diseases for NKX3-2 Gene (602183)

UniProtKB/Swiss-Prot

NKX32_HUMAN
  • 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:0000269 PubMed:20004766}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for NKX3-2 Gene

Relevant External Links for NKX3-2

Human Genome Epidemiology (HuGE) Navigator
NKX3-2
genes like me logo Genes that share disorders with NKX3-2: view

Publications for NKX3-2 Gene

  1. Bapx1: an evolutionary conserved homologue of the Drosophila bagpipe homeobox gene is expressed in splanchnic mesoderm and the embryonic skeleton. (PMID: 9256352) Tribioli C. … Lufkin T. (Mech. Dev. 1997) 3 4 23
  2. Sequence and chromosomal assignment of human BAPX1, a bagpipe-related gene, to 4p16.1: a candidate gene for skeletal dysplasia. (PMID: 9344671) Yoshiura K. … Murray J.C. (Genomics 1997) 2 3 4
  3. Molecular cloning, chromosomal mapping and developmental expression of BAPX1, a novel human homeobox-containing gene homologous to Drosophila bagpipe. (PMID: 9426254) Tribioli C. … Lufkin T. (Gene 1997) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. Homozygous inactivating mutations in the NKX3-2 gene result in spondylo-megaepiphyseal-metaphyseal dysplasia. (PMID: 20004766) Hellemans J. … Mortier G. (Am. J. Hum. Genet. 2009) 3 4

Products for NKX3-2 Gene

Sources for NKX3-2 Gene

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