This gene encodes a homeodomain-containing transcription factor. The encoded protein is a member of the NKX family of homeodomain transcription factors. Studies of similar proteins in mouse and rat have indicated a potential role in cellular differentiation.[provided by RefSeq, Mar 2010] See more...

Aliases for NKX2-3 Gene

Aliases for NKX2-3 Gene

  • NK2 Homeobox 3 2 3 5
  • Homeobox Protein NK-2 Homolog C 3 4
  • Homeobox Protein Nkx-2.3 3 4
  • NKX2C 3 4
  • NK2 Transcription Factor Related, Locus 3 (Drosophila) 2
  • NK2 Transcription Factor Related, Locus 3 3
  • NK-2 (Drosophila) Homolog C 2
  • NKX2.3 3
  • NKX4-3 3
  • NK2.3 3
  • NKX23 4
  • CSX3 3

External Ids for NKX2-3 Gene

Previous HGNC Symbols for NKX2-3 Gene

  • NKX2C

Previous GeneCards Identifiers for NKX2-3 Gene

  • GC10P100185
  • GC10P100526
  • GC10P101423
  • GC10P100957
  • GC10P101282
  • GC10P101292
  • GC10P094918

Summaries for NKX2-3 Gene

Entrez Gene Summary for NKX2-3 Gene

  • This gene encodes a homeodomain-containing transcription factor. The encoded protein is a member of the NKX family of homeodomain transcription factors. Studies of similar proteins in mouse and rat have indicated a potential role in cellular differentiation.[provided by RefSeq, Mar 2010]

GeneCards Summary for NKX2-3 Gene

NKX2-3 (NK2 Homeobox 3) is a Protein Coding gene. Diseases associated with NKX2-3 include Thyroid Malformation and Inflammatory Bowel Disease 2. Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding. An important paralog of this gene is NKX2-5.

UniProtKB/Swiss-Prot Summary for NKX2-3 Gene

Gene Wiki entry for NKX2-3 Gene

Additional gene information for NKX2-3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NKX2-3 Gene

Genomics for NKX2-3 Gene

GeneHancer (GH) Regulatory Elements for NKX2-3 Gene

Promoters and enhancers for NKX2-3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J099525 Promoter/Enhancer 1.3 Ensembl ENCODE dbSUPER 500.7 -1.1 -1053 12 USF1 GABPA TRIM28 EZH2 HDAC2 OSR2 MYC ZNF263 BMI1 YY1 LINC01475 NKX2-3 ENSG00000228778
GH10J099617 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.2 +87.0 87001 5.6 FOXK2 ZNF217 EP300 ZSCAN5C SIN3A NRF1 TCF12 MYC POLR2G SP1 ENSG00000260475 SLC25A28 CHUK PHBP9 EBAG9P1 CWF19L1 ENSG00000236308 DNMBP NKX2-3 CUTC
GH10J099428 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 9.7 -102.4 -102432 3.8 EP300 ZBTB40 ZNF217 SIN3A NRF1 TCF12 MYC POLR2G SP1 NCOR1 ENSG00000224934 GOT1 CHUK NKX2-3 lnc-CNNM1-3
GH10J099707 Enhancer 1.1 Ensembl ENCODE dbSUPER 10 +176.3 176319 3.1 MEF2C RCOR1 BCL11A ZNF316 IRF1 ZNF592 POLR2H PBX2 NFE2 BATF piR-32294 piR-52682 ENTPD7 NKX2-3 ENSG00000224934 GOT1 BLOC1S2 CUTC piR-52434 ENSG00000285932
GH10J099451 Enhancer 1 Ensembl ENCODE 11.2 -81.5 -81533 1.6 KDM6A ZNF423 TRIM28 SKI TEAD1 ZNF341 OSR2 WT1 FOXA2 ZBTB17 ENSG00000224934 GOT1 NKX2-3 piR-38351-058 LOC101927300 RF00066-027
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NKX2-3 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NKX2-3

Top Transcription factor binding sites by QIAGEN in the NKX2-3 gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • HSF2
  • Nkx2-5

Genomic Locations for NKX2-3 Gene

Genomic Locations for NKX2-3 Gene
chr10:99,532,933-99,536,524
(GRCh38/hg38)
Size:
3,592 bases
Orientation:
Plus strand
chr10:101,292,690-101,296,281
(GRCh37/hg19)
Size:
3,592 bases
Orientation:
Plus strand

Genomic View for NKX2-3 Gene

Genes around NKX2-3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NKX2-3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NKX2-3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NKX2-3 Gene

Proteins for NKX2-3 Gene

  • Protein details for NKX2-3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TAU0-NKX23_HUMAN
    Recommended name:
    Homeobox protein Nkx-2.3
    Protein Accession:
    Q8TAU0
    Secondary Accessions:
    • B4DUZ4
    • Q9NYS6

    Protein attributes for NKX2-3 Gene

    Size:
    364 amino acids
    Molecular mass:
    38406 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH25788.1; Type=Miscellaneous discrepancy; Note=The lack of 97 nucleotides within coding exon 2 produces a frameshift and results in a truncated protein.; Evidence={ECO:0000305};

neXtProt entry for NKX2-3 Gene

Post-translational modifications for NKX2-3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NKX2-3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for NKX2-3
  • Santa Cruz Biotechnology (SCBT) Antibodies for NKX2-3

No data available for DME Specific Peptides for NKX2-3 Gene

Domains & Families for NKX2-3 Gene

Gene Families for NKX2-3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for NKX2-3 Gene

Blocks:
  • Lambda and other repressor helix-turn-helix signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NKX2-3 Gene

GenScript: Design optimal peptide antigens:
  • Homeobox protein NK-2 homolog C (NKX23_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8TAU0

UniProtKB/Swiss-Prot:

NKX23_HUMAN :
  • Belongs to the NK-2 homeobox family.
Family:
  • Belongs to the NK-2 homeobox family.
genes like me logo Genes that share domains with NKX2-3: view

Function for NKX2-3 Gene

Molecular function for NKX2-3 Gene

UniProtKB/Swiss-Prot Function:
Transcription factor.

Phenotypes From GWAS Catalog for NKX2-3 Gene

Gene Ontology (GO) - Molecular Function for NKX2-3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IBA 21873635
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific NAS 19274049
GO:0003674 molecular_function ND --
GO:0003677 DNA binding IEA --
GO:0003700 DNA-binding transcription factor activity IBA 21873635
genes like me logo Genes that share ontologies with NKX2-3: view
genes like me logo Genes that share phenotypes with NKX2-3: view

Animal Models for NKX2-3 Gene

MGI Knock Outs for NKX2-3:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NKX2-3

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NKX2-3 Gene

Localization for NKX2-3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NKX2-3 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NKX2-3 gene
Compartment Confidence
nucleus 4
extracellular 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (1)
  • Nucleoli (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NKX2-3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005575 cellular_component ND --
GO:0005634 nucleus IBA,IEA 21873635
genes like me logo Genes that share ontologies with NKX2-3: view

Pathways & Interactions for NKX2-3 Gene

PathCards logo

SuperPathways for NKX2-3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for NKX2-3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001776 leukocyte homeostasis IEA --
GO:0002317 plasma cell differentiation IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006641 triglyceride metabolic process IEA --
GO:0006955 immune response IEA --
genes like me logo Genes that share ontologies with NKX2-3: view

No data available for Pathways by source and SIGNOR curated interactions for NKX2-3 Gene

Drugs & Compounds for NKX2-3 Gene

No Compound Related Data Available

Transcripts for NKX2-3 Gene

mRNA/cDNA for NKX2-3 Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NKX2-3

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NKX2-3 Gene

No ASD Table

Relevant External Links for NKX2-3 Gene

GeneLoc Exon Structure for
NKX2-3

Expression for NKX2-3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NKX2-3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NKX2-3 Gene

This gene is overexpressed in Colon - Sigmoid (x14.8), Spleen (x13.2), Small Intestine - Terminal Ileum (x8.7), Colon - Transverse (x6.8), and Minor Salivary Gland (x5.7).

Protein differential expression in normal tissues from HIPED for NKX2-3 Gene

This gene is overexpressed in Heart (38.6) and Fetal gut (26.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for NKX2-3 Gene



Protein tissue co-expression partners for NKX2-3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NKX2-3

SOURCE GeneReport for Unigene cluster for NKX2-3 Gene:

Hs.243272

Evidence on tissue expression from TISSUES for NKX2-3 Gene

  • Spleen(4.4)
  • Intestine(4.3)
  • Pancreas(4.1)
genes like me logo Genes that share expression patterns with NKX2-3: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for NKX2-3 Gene

Orthologs for NKX2-3 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for NKX2-3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NKX2-3 31 30
  • 99.27 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NKX2-3 31 30
  • 91.58 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NKX2-3 31 30
  • 91.48 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Nkx2-3 17 31 30
  • 88.46 (n)
rat
(Rattus norvegicus)
Mammalia Nkx2-3 30
  • 88 (n)
oppossum
(Monodelphis domestica)
Mammalia NKX2-3 31
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NKX2-3 31
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves NKX2-6 31
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nkx2-3 30
  • 64.23 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.1046 30
zebrafish
(Danio rerio)
Actinopterygii nkx2.3 31 30
  • 57.63 (n)
OneToOne
-- 30
fruit fly
(Drosophila melanogaster)
Insecta tin 31
  • 20 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ceh-28 31
  • 33 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HMRA1 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4350 31
  • 28 (a)
OneToOne
Species where no ortholog for NKX2-3 was found in the sources mined by GeneCards:
  • 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)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 NKX2-3 Gene

ENSEMBL:
Gene Tree for NKX2-3 (if available)
TreeFam:
Gene Tree for NKX2-3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NKX2-3: view image

Paralogs for NKX2-3 Gene

(6) SIMAP similar genes for NKX2-3 Gene using alignment to 1 proteins:

  • NKX23_HUMAN
genes like me logo Genes that share paralogs with NKX2-3: view

Variants for NKX2-3 Gene

Additional dbSNP identifiers (rs#s) for NKX2-3 Gene

Structural Variations from Database of Genomic Variants (DGV) for NKX2-3 Gene

Variant ID Type Subtype PubMed ID
nsv831958 CNV gain 17160897

Variation tolerance for NKX2-3 Gene

Residual Variation Intolerance Score: 32.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.20; 24.22% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NKX2-3 Gene

Human Gene Mutation Database (HGMD)
NKX2-3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NKX2-3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NKX2-3 Gene

Disorders for NKX2-3 Gene

MalaCards: The human disease database

(4) MalaCards diseases for NKX2-3 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
thyroid malformation
inflammatory bowel disease 2
  • ibd2
inflammatory bowel disease 5
  • ibd5
inflammatory bowel disease
  • inflammatory bowel diseases
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for NKX2-3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with NKX2-3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NKX2-3 Gene

Publications for NKX2-3 Gene

  1. A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci. (PMID: 22412388) Kenny EE … Peter I (PLoS genetics 2012) 3 41 54
  2. Genetic analysis in a Dutch study sample identifies more ulcerative colitis susceptibility loci and shows their additive role in disease risk. (PMID: 19861958) Festen EA … Weersma RK (The American journal of gastroenterology 2010) 3 41 54
  3. Analysis of 39 Crohn's disease risk loci in Swedish inflammatory bowel disease patients. (PMID: 19760754) Törkvist L … Pettersson S (Inflammatory bowel diseases 2010) 3 41 54
  4. Molecular reclassification of Crohn's disease by cluster analysis of genetic variants. (PMID: 20886065) Cleynen I … Vermeire S (PloS one 2010) 3 41 54
  5. Association between genome-wide association studies reported SNPs and pediatric-onset Crohn's disease in Canadian children. (PMID: 20473688) Amre DK … Levy E (Human genetics 2010) 3 41 54

Products for NKX2-3 Gene

Sources for NKX2-3 Gene