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Aliases for NKX6-2 Gene

Aliases for NKX6-2 Gene

  • NK6 Homeobox 2 2 3 5
  • Homeobox Protein NK-6 Homolog B 3 4
  • NKX6B 3 4
  • GTX 3 4
  • NK6 Transcription Factor Related, Locus 2 (Drosophila) 2
  • Glial And Testis-Specific Homeobox Protein 3
  • NK6 Transcription Factor Related, Locus 2 3
  • Homeobox Protein Nkx-6.2 3
  • NK Homeobox Family 6, B 3
  • Homeobox 6B 3
  • NKX6.2 3
  • SPAX8 3

External Ids for NKX6-2 Gene

Previous GeneCards Identifiers for NKX6-2 Gene

  • GC10U990123
  • GC10M134475
  • GC10M134032
  • GC10M134448
  • GC10M134598
  • GC10M128149

Summaries for NKX6-2 Gene

GeneCards Summary for NKX6-2 Gene

NKX6-2 (NK6 Homeobox 2) is a Protein Coding gene. Diseases associated with NKX6-2 include Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy and Hypomyelinating Leukodystrophy. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is NKX6-1.

UniProtKB/Swiss-Prot for NKX6-2 Gene

  • Transcription factor with repressor activity involved in the regulation of axon-glial interactions at myelin paranodes in oligodendrocytes. Binds to the consensus DNA sequence 5-(A/T)TTAATGA-3. In oligodendrocytes, binds to MBP and PLP1 promoter regions.

Gene Wiki entry for NKX6-2 Gene

Additional gene information for NKX6-2 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NKX6-2 Gene

Genomics for NKX6-2 Gene

GeneHancer (GH) Regulatory Elements for NKX6-2 Gene

Promoters and enhancers for NKX6-2 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
GH10I132787 Enhancer 0.7 FANTOM5 559.8 -1.1 -1079 0.1 ZSCAN5A RING1 ZNF777 ZNF189 SUZ12 ZBTB7A ZNF335 ZFHX2 GLIS2 GLIS1 NKX6-2 KNDC1 ADGRA1 PIR34484
GH10I132786 Promoter 0.6 EPDnew 550.8 -0.1 -115 0.1 EZH2 NKX6-2 PIR34484
GH10I132738 Enhancer 0.5 FANTOM5 dbSUPER 36.2 +47.3 47319 0.3 ZIC2 NKX6-2 KNDC1 ADGRA1 PIR45643 INPP5A
GH10I132683 Enhancer 1.3 Ensembl ENCODE dbSUPER 11.1 +100.8 100769 2.6 ELF3 PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 ARID2 FOS SP5 NKX6-2 INPP5A FUOM PIR45643
GH10I132713 Enhancer 0.9 FANTOM5 ENCODE dbSUPER 13.8 +71.5 71474 1.4 RING1 POLR2A EZH2 PIR45643 NKX6-2 TUBGCP2 KNDC1 ADGRA1 CFAP46 INPP5A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around NKX6-2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NKX6-2 gene promoter:

Genomic Locations for NKX6-2 Gene

Genomic Locations for NKX6-2 Gene
chr10:132,783,179-132,786,052
(GRCh38/hg38)
Size:
2,874 bases
Orientation:
Minus strand
chr10:134,598,297-134,599,556
(GRCh37/hg19)

Genomic View for NKX6-2 Gene

Genes around NKX6-2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NKX6-2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NKX6-2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NKX6-2 Gene

Proteins for NKX6-2 Gene

  • Protein details for NKX6-2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9C056-NKX62_HUMAN
    Recommended name:
    Homeobox protein Nkx-6.2
    Protein Accession:
    Q9C056
    Secondary Accessions:
    • Q5JSF3

    Protein attributes for NKX6-2 Gene

    Size:
    277 amino acids
    Molecular mass:
    29263 Da
    Quaternary structure:
    No Data Available

neXtProt entry for NKX6-2 Gene

Post-translational modifications for NKX6-2 Gene

No Post-translational modifications

Other Protein References for NKX6-2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for NKX6-2 Gene

Domains & Families for NKX6-2 Gene

Gene Families for NKX6-2 Gene

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

Suggested Antigen Peptide Sequences for NKX6-2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with NKX6-2: view

No data available for UniProtKB/Swiss-Prot for NKX6-2 Gene

Function for NKX6-2 Gene

Molecular function for NKX6-2 Gene

UniProtKB/Swiss-Prot Function:
Transcription factor with repressor activity involved in the regulation of axon-glial interactions at myelin paranodes in oligodendrocytes. Binds to the consensus DNA sequence 5-(A/T)TTAATGA-3. In oligodendrocytes, binds to MBP and PLP1 promoter regions.

Gene Ontology (GO) - Molecular Function for NKX6-2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0001078 transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0003677 DNA binding ISS --
GO:0003700 DNA binding transcription factor activity IEA,NAS 11210186
GO:0043565 sequence-specific DNA binding IEA --
genes like me logo Genes that share ontologies with NKX6-2: view
genes like me logo Genes that share phenotypes with NKX6-2: view

Animal Models for NKX6-2 Gene

MGI Knock Outs for NKX6-2:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NKX6-2 Gene

Localization for NKX6-2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NKX6-2 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 NKX6-2 gene
Compartment Confidence
nucleus 5
cytosol 2
extracellular 1
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for NKX6-2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus NAS 11210186
genes like me logo Genes that share ontologies with NKX6-2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for NKX6-2 Gene

Pathways & Interactions for NKX6-2 Gene

SuperPathways for NKX6-2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for NKX6-2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IEA --
GO:0006355 regulation of transcription, DNA-templated NAS 11210186
GO:0007275 multicellular organism development IEA --
GO:0010454 negative regulation of cell fate commitment IEA --
GO:0010455 positive regulation of cell fate commitment IEA --
genes like me logo Genes that share ontologies with NKX6-2: view

No data available for Pathways by source and SIGNOR curated interactions for NKX6-2 Gene

Drugs & Compounds for NKX6-2 Gene

No Compound Related Data Available

Transcripts for NKX6-2 Gene

mRNA/cDNA for NKX6-2 Gene

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

Unigene Clusters for NKX6-2 Gene

NK6 homeobox 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NKX6-2 Gene

No ASD Table

Relevant External Links for NKX6-2 Gene

GeneLoc Exon Structure for
NKX6-2
ECgene alternative splicing isoforms for
NKX6-2

Expression for NKX6-2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NKX6-2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NKX6-2 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x13.3), Brain - Substantia nigra (x8.4), Brain - Hippocampus (x5.3), Brain - Hypothalamus (x4.6), and Brain - Putamen (basal ganglia) (x4.0).

Protein differential expression in normal tissues from HIPED for NKX6-2 Gene

This gene is overexpressed in Pancreatic juice (63.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for NKX6-2 Gene



Protein tissue co-expression partners for NKX6-2 Gene

- Elite partner

SOURCE GeneReport for Unigene cluster for NKX6-2 Gene:

Hs.134013

mRNA Expression by UniProt/SwissProt for NKX6-2 Gene:

Q9C056-NKX62_HUMAN
Tissue specificity: Highest expression in brain.

Evidence on tissue expression from TISSUES for NKX6-2 Gene

  • Nervous system(4.7)
  • Pancreas(2.7)
genes like me logo Genes that share expression patterns with NKX6-2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for NKX6-2 Gene

Orthologs for NKX6-2 Gene

This gene was present in the common ancestor of animals.

Orthologs for NKX6-2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NKX6-2 33 34
  • 98.79 (n)
dog
(Canis familiaris)
Mammalia NKX6-2 33 34
  • 95.03 (n)
cow
(Bos Taurus)
Mammalia NKX6-2 34
  • 93 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nkx6-2 33
  • 89.05 (n)
mouse
(Mus musculus)
Mammalia Nkx6-2 33 16 34
  • 88.57 (n)
oppossum
(Monodelphis domestica)
Mammalia NKX6-2 34
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 82 (a)
OneToMany
-- 34
  • 63 (a)
OneToMany
chicken
(Gallus gallus)
Aves NKX-6.2 34
  • 85 (a)
OneToOne
NKX6-2 33
  • 80.63 (n)
lizard
(Anolis carolinensis)
Reptilia NKX6-2 34
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nkx6-2 33
  • 72.99 (n)
zebrafish
(Danio rerio)
Actinopterygii nkx6.2 33 34
  • 72.99 (n)
fruit fly
(Drosophila melanogaster)
Insecta HGTX 34
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 32 (a)
OneToMany
Species where no ortholog for NKX6-2 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 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)
  • worm (Caenorhabditis elegans)

Evolution for NKX6-2 Gene

ENSEMBL:
Gene Tree for NKX6-2 (if available)
TreeFam:
Gene Tree for NKX6-2 (if available)

Paralogs for NKX6-2 Gene

Paralogs for NKX6-2 Gene

(2) SIMAP similar genes for NKX6-2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with NKX6-2: view

Variants for NKX6-2 Gene

Sequence variations from dbSNP and Humsavar for NKX6-2 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
VAR_079481 Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy (SPAX8) [MIM:617560] p.Leu163Val
rs1000395627 -- 132,784,468(-) C/G downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant
rs1000820788 -- 132,785,099(-) C/T coding_sequence_variant, synonymous_variant
rs1001413785 -- 132,787,690(-) T/A upstream_transcript_variant
rs1001487283 -- 132,787,816(-) G/A/T upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for NKX6-2 Gene

Variant ID Type Subtype PubMed ID
dgv183n67 CNV gain 20364138
dgv184n67 CNV gain 20364138
esv32864 CNV gain 17666407
esv3577894 CNV gain 25503493
nsv1054934 CNV gain 25217958
nsv1069529 CNV deletion 25765185
nsv1143660 CNV deletion 24896259
nsv467496 CNV gain 19166990
nsv470977 CNV loss 18288195
nsv509378 CNV insertion 20534489
nsv552526 CNV gain 21841781
nsv552528 CNV gain 21841781
nsv825660 CNV gain 20364138
nsv825663 CNV gain 20364138
nsv832032 CNV loss 17160897
nsv832033 CNV loss 17160897
nsv832034 CNV loss 17160897
nsv952700 CNV deletion 24416366

Variation tolerance for NKX6-2 Gene

Residual Variation Intolerance Score: 21.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.70; 32.32% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NKX6-2 Gene

Human Gene Mutation Database (HGMD)
NKX6-2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NKX6-2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NKX6-2 Gene

Disorders for NKX6-2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for NKX6-2 Gene - From: HGMD, OMIM, ClinVar, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

NKX62_HUMAN
  • Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy (SPAX8) [MIM:617560]: An autosomal recessive neurodegenerative disorder characterized by early-onset hypotonia which progresses to a pyramidal syndrome with ataxia, spasticity, hyperreflexia, weakness and loss of ambulation. Brain imaging shows cerebellar atrophy and hypomyelinating leukodystrophy. {ECO:0000269 PubMed:28575651}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for NKX6-2

genes like me logo Genes that share disorders with NKX6-2: view

No data available for Genatlas for NKX6-2 Gene

Publications for NKX6-2 Gene

  1. Cloning, expression and chromosomal location of NKX6B TO 10Q26, a region frequently deleted in brain tumors. (PMID: 11210186) Lee SH … Belouchi A (Mammalian genome : official journal of the International Mammalian Genome Society 2001) 2 3 4 22 58
  2. Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination. (PMID: 28575651) Chelban V … Houlden H (American journal of human genetics 2017) 3 4 58
  3. Biallelic mutations in the homeodomain of NKX6-2 underlie a severe hypomyelinating leukodystrophy. (PMID: 28969374) Dorboz I … Bertini E (Brain : a journal of neurology 2017) 3 58
  4. Co-localization of Nkx6.2 and Nkx2.2 homeodomain proteins in differentiated myelinating oligodendrocytes. (PMID: 19780200) Cai J … Qiu M (Glia 2010) 22 58
  5. Antisense masking reveals contributions of mRNA-rRNA base pairing to translation of Gtx and FGF2 mRNAs. (PMID: 18832380) Panopoulos P … Mauro VP (The Journal of biological chemistry 2008) 22 58

Products for NKX6-2 Gene

Sources for NKX6-2 Gene

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