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Aliases for NKX1-2 Gene

Aliases for NKX1-2 Gene

  • NK1 Homeobox 2 2 3 5
  • Homeobox Protein SAX-1 3 4
  • C10orf121 3 4
  • NKX-1.1 3 4
  • NK1 Transcription Factor Related, Locus 2 (Drosophila) 2
  • NK1 Transcription Factor-Related Protein 2 3
  • NK1 Transcription Factor Related, Locus 2 3
  • Chromosome 10 Open Reading Frame 121 2
  • BB238F13.2 3
  • NKX1.1 4

External Ids for NKX1-2 Gene

Previous HGNC Symbols for NKX1-2 Gene

  • C10orf121

Previous GeneCards Identifiers for NKX1-2 Gene

  • GC10M126127
  • GC10M119820
  • GC10M126135

Summaries for NKX1-2 Gene

GeneCards Summary for NKX1-2 Gene

NKX1-2 (NK1 Homeobox 2) is a Protein Coding gene. Diseases associated with NKX1-2 include Transposition Of The Great Arteries. GO annotations related to this gene include sequence-specific DNA binding. An important paralog of this gene is NKX1-1.

UniProtKB/Swiss-Prot for NKX1-2 Gene

  • May function in cell specification, particularly in the CNS.

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NKX1-2 Gene

Genomics for NKX1-2 Gene

Regulatory Elements for NKX1-2 Gene

Enhancers for NKX1-2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10G124412 1.4 ENCODE dbSUPER 11.4 +32.5 32494 10.5 HDGF PKNOX1 FOXA2 CREB3L1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 OAT NKX1-2 LOC105378536
GH10G124522 1.3 FANTOM5 Ensembl ENCODE 10.6 -73.3 -73317 1.4 KLF1 FOXA2 ZNF600 NR2F6 IKZF2 MTA2 NR2F1 BHLHE40 FOXA3 USF2 FAM53B EEF1AKMT2 ABRAXAS2 NKX1-2 LHPP GC10P124510 PIR39838 GC10P124539
GH10G124427 1 ENCODE dbSUPER 13 +21.3 21279 3.1 BCOR RFX1 ZNF362 NFIA HLF ZMYM3 FOXA1 OSR2 ZNF121 ZFHX2 NKX1-2 CHST15 FAM53B OAT OATP1
GH10G124529 1.2 Ensembl ENCODE 10.6 -80.1 -80130 1.2 HDGF PKNOX1 ARID4B SIN3A FEZF1 ZNF2 ZNF48 ETS1 GLIS2 ZNF143 EEF1AKMT2 FAM53B ABRAXAS2 NKX1-2 LHPP GC10P124539 PIR39838 GC10P124510
GH10G124524 1.1 FANTOM5 Ensembl ENCODE 10.6 -75.1 -75119 0.7 ZFHX2 PKNOX1 NR3C1 NR2F2 EGR2 EEF1AKMT2 FAM53B ABRAXAS2 NKX1-2 LHPP GC10P124539 PIR39838 GC10P124510
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NKX1-2 on UCSC Golden Path with GeneCards custom track

Genomic Location for NKX1-2 Gene

Chromosome:
10
Start:
124,445,239 bp from pter
End:
124,450,184 bp from pter
Size:
4,946 bases
Orientation:
Minus strand

Genomic View for NKX1-2 Gene

Genes around NKX1-2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NKX1-2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NKX1-2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NKX1-2 Gene

Proteins for NKX1-2 Gene

  • Protein details for NKX1-2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UD57-NKX12_HUMAN
    Recommended name:
    NK1 transcription factor-related protein 2
    Protein Accession:
    Q9UD57

    Protein attributes for NKX1-2 Gene

    Size:
    310 amino acids
    Molecular mass:
    32381 Da
    Quaternary structure:
    No Data Available

neXtProt entry for NKX1-2 Gene

Post-translational modifications for NKX1-2 Gene

No Post-translational modifications

Other Protein References for NKX1-2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for NKX1-2 Gene

Domains & Families for NKX1-2 Gene

Gene Families for NKX1-2 Gene

Protein Domains for NKX1-2 Gene

Suggested Antigen Peptide Sequences for NKX1-2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UD57

UniProtKB/Swiss-Prot:

NKX12_HUMAN :
  • Belongs to the NK-1 homeobox family.
Family:
  • Belongs to the NK-1 homeobox family.
genes like me logo Genes that share domains with NKX1-2: view

Function for NKX1-2 Gene

Molecular function for NKX1-2 Gene

UniProtKB/Swiss-Prot Function:
May function in cell specification, particularly in the CNS.

Gene Ontology (GO) - Molecular Function for NKX1-2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043565 sequence-specific DNA binding IEA --
genes like me logo Genes that share ontologies with NKX1-2: view

Animal Model Products

CRISPR Products

miRNA for NKX1-2 Gene

miRTarBase miRNAs that target NKX1-2

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NKX1-2 Gene

Localization for NKX1-2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NKX1-2 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 NKX1-2 gene
Compartment Confidence
nucleus 3

Gene Ontology (GO) - Cellular Components for NKX1-2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with NKX1-2: view

Pathways & Interactions for NKX1-2 Gene

SuperPathways for NKX1-2 Gene

No Data Available

Interacting Proteins for NKX1-2 Gene

Gene Ontology (GO) - Biological Process for NKX1-2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007275 multicellular organism development IEA --
genes like me logo Genes that share ontologies with NKX1-2: view

No data available for Pathways by source and SIGNOR curated interactions for NKX1-2 Gene

Drugs & Compounds for NKX1-2 Gene

No Compound Related Data Available

Transcripts for NKX1-2 Gene

mRNA/cDNA for NKX1-2 Gene

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

Unigene Clusters for NKX1-2 Gene

NK1 homeobox 2:
Representative Sequences:

CRISPR Products

Alternative Splicing Database (ASD) splice patterns (SP) for NKX1-2 Gene

No ASD Table

Relevant External Links for NKX1-2 Gene

GeneLoc Exon Structure for
NKX1-2
ECgene alternative splicing isoforms for
NKX1-2

Expression for NKX1-2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NKX1-2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NKX1-2 Gene

This gene is overexpressed in Esophagus - Mucosa (x6.7), Brain - Nucleus accumbens (basal ganglia) (x6.2), Brain - Putamen (basal ganglia) (x5.4), and Brain - Frontal Cortex (BA9) (x4.2).

SOURCE GeneReport for Unigene cluster for NKX1-2 Gene:

Hs.712041

Evidence on tissue expression from TISSUES for NKX1-2 Gene

  • Bone marrow(4)
genes like me logo Genes that share expression patterns with NKX1-2: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for NKX1-2 Gene

Orthologs for NKX1-2 Gene

This gene was present in the common ancestor of animals.

Orthologs for NKX1-2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NKX1-2 34
  • 98.82 (n)
dog
(Canis familiaris)
Mammalia NKX1-2 34 35
  • 83.67 (n)
cow
(Bos Taurus)
Mammalia NKX1-2 34 35
  • 80.43 (n)
mouse
(Mus musculus)
Mammalia Nkx1-2 34 16 35
  • 76.38 (n)
rat
(Rattus norvegicus)
Mammalia Nkx1-2 34
  • 75.61 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NKX1-2 35
  • 57 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NKX1-2 35
  • 51 (a)
OneToOne
chicken
(Gallus gallus)
Aves NKX1-2 34 35
  • 75.41 (n)
lizard
(Anolis carolinensis)
Reptilia NKX1-2 35
  • 51 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii nkx1.2la 35
  • 41 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta slou 35
  • 15 (a)
OneToOne
Species where no ortholog for NKX1-2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • 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 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NKX1-2 Gene

ENSEMBL:
Gene Tree for NKX1-2 (if available)
TreeFam:
Gene Tree for NKX1-2 (if available)

Paralogs for NKX1-2 Gene

(6) SIMAP similar genes for NKX1-2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with NKX1-2: view

Variants for NKX1-2 Gene

Sequence variations from dbSNP and Humsavar for NKX1-2 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs1000207542 -- 124,451,787(+) TTGTT(C/T)TCTGT upstream-variant-2KB
rs1000344495 -- 124,450,551(+) CACGA(C/T)CTCTT upstream-variant-2KB
rs1001179202 -- 124,451,056(+) ATTCC(C/T)TCTCA upstream-variant-2KB
rs1001721853 -- 124,449,751(+) TCGGA(C/G)AGGGT reference, missense
rs1002106474 -- 124,448,117(+) GGGGG(C/G)ACGCC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for NKX1-2 Gene

Variant ID Type Subtype PubMed ID
nsv832012 CNV gain+loss 17160897

Variation tolerance for NKX1-2 Gene

Gene Damage Index Score: 6.65; 78.36% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NKX1-2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NKX1-2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NKX1-2 Gene

Disorders for NKX1-2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for NKX1-2 Gene - From: GeneCards

Disorder Aliases PubMed IDs
transposition of the great arteries
  • dextro-looped transposition of the great arteries
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for NKX1-2

Genetic Association Database (GAD)
NKX1-2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NKX1-2
genes like me logo Genes that share disorders with NKX1-2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NKX1-2 Gene

Publications for NKX1-2 Gene

  1. The mouse Nkx-1.2 homeobox gene: alternative RNA splicing at canonical and noncanonical splice sites. (PMID: 10681422) Rovescalli A.C. … Nirenberg M. (Proc. Natl. Acad. Sci. U.S.A. 2000) 2 3 64
  2. Genome-wide rare copy number variations contribute to genetic risk for transposition of the great arteries. (PMID: 26655555) Costain G. … Bassett A.S. (Int. J. Cardiol. 2016) 3 64
  3. Genome wide association study for plasma levels of natural anticoagulant inhibitors and protein C anticoagulant pathway: the MARTHA project. (PMID: 22443383) Oudot-Mellakh T. … Morange P.E. (Br. J. Haematol. 2012) 46 64
  4. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PMID: 15146197) Brandenberger R. … Stanton L.W. (Nat. Biotechnol. 2004) 3 64
  5. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P. … Rogers J. (Nature 2004) 4 64

Products for NKX1-2 Gene

Sources for NKX1-2 Gene

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