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Aliases for NKX2-8 Gene

Aliases for NKX2-8 Gene

  • NK2 Homeobox 8 2 3 5
  • Homeobox Protein NK-2 Homolog H 3 4
  • NKX2H 3 4
  • NK2 Transcription Factor Related, Locus 8 (Drosophila) 2
  • NK2 Transcription Factor Related, Locus 8 3
  • NK-2 Homolog H (Drosophila) 2
  • Homeobox Protein Nkx-2.8 3
  • NK-2 Homolog 8 3
  • NK-2 Homolog H 3
  • NKX-2.8 4
  • NKX2.8 3
  • Nkx2-9 3
  • NKX2G 4

External Ids for NKX2-8 Gene

Previous HGNC Symbols for NKX2-8 Gene

  • NKX2H

Previous GeneCards Identifiers for NKX2-8 Gene

  • GC14M034430
  • GC14M030907
  • GC14M035039
  • GC14M036118
  • GC14M037049
  • GC14M017163

Summaries for NKX2-8 Gene

Entrez Gene Summary for NKX2-8 Gene

  • The protein encoded by this gene is a homeobox-containing developmental regulator associated with liver development. The encoded protein binds to the alpha-fetoprotein (AFP) gene promoter and increases the expression of AFP. This gene is overexpressed in some lung cancers and is linked to poor patient survival, possibly due to its resistance to cisplatin. This gene is aberrantly methylated in pancreatic cancer, deleted in squamous cell lung carcinomas, and acts as a tumor suppressor in esophageal cancer. Mutations in this gene may also be a cause of neural tube defects. [provided by RefSeq, Dec 2015]

GeneCards Summary for NKX2-8 Gene

NKX2-8 (NK2 Homeobox 8) is a Protein Coding gene. Diseases associated with NKX2-8 include Tethered Spinal Cord Syndrome and Neural Tube Defects. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and RNA polymerase II core promoter proximal region sequence-specific DNA binding. An important paralog of this gene is NKX2-3.

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NKX2-8 Gene

Genomics for NKX2-8 Gene

Regulatory Elements for NKX2-8 Gene

Enhancers for NKX2-8 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
GH14G036345 1.8 VISTA 9.7 +236.7 236694 1.6 ZNF146 FOXA2 SMARCA4 ZNF580 EP300 MBIP RPL29P3 NKX2-8 ENSG00000283098 DPPA3P2
GH14G036272 1.8 Ensembl 9.4 +310.2 310207 0.4 PKNOX1 ZSCAN4 FEZF1 ZNF384 ZIC2 ZNF2 ZNF324 CTBP1 ZBTB48 PATZ1 MBIP RPL29P3 NKX2-8 RN7SKP21
GH14G036504 1.5 VISTA ENCODE dbSUPER 11.1 +77.6 77632 0.8 RING1 SUZ12 CHD7 FOSL1 FOSL2 FOS EZH2 RNF2 NRF1 CBX2 RPL29P3 NKX2-8 SFTA3 GC14P036424
GH14G036995 0.6 FANTOM5 25.1 -413.5 -413528 0.3 KLF16 RFXANK TAL1 HMBOX1 ZNF652 YY1 MIPOL1 NKX2-8 SLC25A21 GC14P037020 GC14P036975
GH14G036269 1.5 ENCODE 9.4 +313.1 313061 0.9 OSR2 L3MBTL2 ZSCAN4 POU5F1 ZIC2 MBIP RPL29P3 NKX2-8 RN7SKP21
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NKX2-8 on UCSC Golden Path with GeneCards custom track

Genomic Location for NKX2-8 Gene

Chromosome:
14
Start:
36,580,011 bp from pter
End:
36,582,607 bp from pter
Size:
2,597 bases
Orientation:
Minus strand

Genomic View for NKX2-8 Gene

Genes around NKX2-8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NKX2-8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NKX2-8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NKX2-8 Gene

Proteins for NKX2-8 Gene

  • Protein details for NKX2-8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O15522-NKX28_HUMAN
    Recommended name:
    Homeobox protein Nkx-2.8
    Protein Accession:
    O15522
    Secondary Accessions:
    • Q8IUT7

    Protein attributes for NKX2-8 Gene

    Size:
    239 amino acids
    Molecular mass:
    25866 Da
    Quaternary structure:
    No Data Available

neXtProt entry for NKX2-8 Gene

Post-translational modifications for NKX2-8 Gene

No Post-translational modifications

Other Protein References for NKX2-8 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for NKX2-8 Gene

Domains & Families for NKX2-8 Gene

Gene Families for NKX2-8 Gene

Protein Domains for NKX2-8 Gene

Suggested Antigen Peptide Sequences for NKX2-8 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O15522

UniProtKB/Swiss-Prot:

NKX28_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 NKX2-8: view

Function for NKX2-8 Gene

Gene Ontology (GO) - Molecular Function for NKX2-8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IDA 12167706
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IDA 12167706
GO:0003677 DNA binding IEA --
GO:0003690 double-stranded DNA binding IDA 9446603
GO:0003700 transcription factor activity, sequence-specific DNA binding IDA 9446603
genes like me logo Genes that share ontologies with NKX2-8: view
genes like me logo Genes that share phenotypes with NKX2-8: view

Animal Models for NKX2-8 Gene

MGI Knock Outs for NKX2-8:

Animal Model Products

CRISPR Products

Clone Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NKX2-8 Gene

Localization for NKX2-8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NKX2-8 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 NKX2-8 gene
Compartment Confidence
nucleus 5

Gene Ontology (GO) - Cellular Components for NKX2-8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with NKX2-8: view

Pathways & Interactions for NKX2-8 Gene

SuperPathways for NKX2-8 Gene

No Data Available

Gene Ontology (GO) - Biological Process for NKX2-8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001889 liver development NAS 9446603
GO:0006351 transcription, DNA-templated IDA 9446603
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription from RNA polymerase II promoter IDA 9446603
GO:0007275 multicellular organism development IEA --
genes like me logo Genes that share ontologies with NKX2-8: view

No data available for Pathways by source and SIGNOR curated interactions for NKX2-8 Gene

Transcripts for NKX2-8 Gene

mRNA/cDNA for NKX2-8 Gene

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

Unigene Clusters for NKX2-8 Gene

NK2 homeobox 8:
Representative Sequences:

CRISPR Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for NKX2-8 Gene

No ASD Table

Relevant External Links for NKX2-8 Gene

GeneLoc Exon Structure for
NKX2-8
ECgene alternative splicing isoforms for
NKX2-8

Expression for NKX2-8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NKX2-8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NKX2-8 Gene

This gene is overexpressed in Testis (x19.2), Brain - Spinal cord (cervical c-1) (x9.7), and Esophagus - Mucosa (x6.1).

Protein differential expression in normal tissues from HIPED for NKX2-8 Gene

This gene is overexpressed in Fetal testis (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for NKX2-8 Gene



Protein tissue co-expression partners for NKX2-8 Gene

SOURCE GeneReport for Unigene cluster for NKX2-8 Gene:

Hs.234763

Evidence on tissue expression from TISSUES for NKX2-8 Gene

  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with NKX2-8: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for NKX2-8 Gene

Orthologs for NKX2-8 Gene

This gene was present in the common ancestor of animals.

Orthologs for NKX2-8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NKX2-8 34 35
  • 99.58 (n)
cow
(Bos Taurus)
Mammalia NKX2-8 34 35
  • 87.9 (n)
dog
(Canis familiaris)
Mammalia NKX2-8 34 35
  • 86.86 (n)
rat
(Rattus norvegicus)
Mammalia Nkx2-8 34
  • 79.97 (n)
mouse
(Mus musculus)
Mammalia Nkx2-9 34 16 35
  • 79.15 (n)
oppossum
(Monodelphis domestica)
Mammalia NKX2-8 35
  • 56 (a)
OneToOne
chicken
(Gallus gallus)
Aves NKX2-8 34 35
  • 68 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia nkx2-8 34
  • 53.88 (n)
zebrafish
(Danio rerio)
Actinopterygii nkx2.9 34
  • 60.84 (n)
nkx2.2b 35
  • 39 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta vnd 35
  • 13 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ceh-22 35
  • 21 (a)
OneToMany
Species where no ortholog for NKX2-8 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)
  • 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)
  • 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)
  • wheat (Triticum aestivum)

Evolution for NKX2-8 Gene

ENSEMBL:
Gene Tree for NKX2-8 (if available)
TreeFam:
Gene Tree for NKX2-8 (if available)

Paralogs for NKX2-8 Gene

(4) SIMAP similar genes for NKX2-8 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with NKX2-8: view

Variants for NKX2-8 Gene

Sequence variations from dbSNP and Humsavar for NKX2-8 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs1000083871 -- 36,583,776(+) TTGTT(A/G)GGCCA upstream-variant-2KB
rs1001327309 -- 36,584,527(+) CTCGT(A/G)GACTT upstream-variant-2KB
rs1001566772 -- 36,581,737(+) AGTTG(A/C)GCTGG intron-variant
rs1001640210 -- 36,581,403(+) GCGGG(C/T)CTAGC reference, synonymous-codon
rs1001954386 -- 36,580,407(+) TCTTC(C/T)TAAAG utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for NKX2-8 Gene

Variant ID Type Subtype PubMed ID
esv32575 CNV gain 17666407

Variation tolerance for NKX2-8 Gene

Gene Damage Index Score: 2.25; 40.38% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NKX2-8 Gene

Human Gene Mutation Database (HGMD)
NKX2-8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NKX2-8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NKX2-8 Gene

Disorders for NKX2-8 Gene

MalaCards: The human disease database

(3) MalaCards diseases for NKX2-8 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
tethered spinal cord syndrome
  • spinal dysraphism
neural tube defects
  • spina bifida
esophageal cancer
  • esophageal cancer, somatic
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for NKX2-8

Genetic Association Database (GAD)
NKX2-8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NKX2-8
genes like me logo Genes that share disorders with NKX2-8: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NKX2-8 Gene

Publications for NKX2-8 Gene

  1. A novel nk-2-related transcription factor associated with human fetal liver and hepatocellular carcinoma. (PMID: 9446603) Apergis G.A. … Locker J. (J. Biol. Chem. 1998) 2 3 4 64
  2. Regulation of alpha-fetoprotein expression by Nkx2.8. (PMID: 12167706) Kajiyama Y. … Locker J. (Mol. Cell. Biol. 2002) 3 22 64
  3. Dynamic changes in DNA methylation and hydroxymethylation when hES cells undergo differentiation toward a neuronal lineage. (PMID: 24087792) Kim M. … Kim Y.S. (Hum. Mol. Genet. 2014) 3 64
  4. Nkx2-8 downregulation promotes angiogenesis and activates NF-I_B in esophageal cancer. (PMID: 23604637) Lin C. … Li J. (Cancer Res. 2013) 3 64
  5. Methylation-specific digital karyotyping of HPV16E6E7-expressing human keratinocytes identifies novel methylation events in cervical carcinogenesis. (PMID: 23674368) Steenbergen R.D. … Van Criekinge W. (J. Pathol. 2013) 3 64

Products for NKX2-8 Gene

Sources for NKX2-8 Gene

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