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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. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and RNA polymerase II proximal promoter sequence-specific DNA binding. An important paralog of this gene is NKX2-2.

Additional gene information for NKX2-8 Gene

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

GeneHancer (GH) Regulatory Elements for NKX2-8 Gene

Promoters and enhancers for NKX2-8 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14I036582 Promoter 0.9 EPDnew 550.8 0.0 -20 0.1 KLF1 MAZ SP3 L3MBTL2 ZNF189 SP2 ZEB2 ZBTB8A ZNF335 ZFHX2 NKX2-8 GC14M036594 RN7SKP257 LOC105370453 ENSG00000283098
GH14I036661 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 10.7 -79.4 -79434 2 PKNOX1 ATF1 SIN3A ATF7 ZNF202 SP3 NFYC ZNF623 PBX2 CTCF LOC105370455 PAX9 LOC644584 NKX2-8 RPL29P3 ENSG00000258690
GH14I036848 Enhancer 0.7 FANTOM5 18 -265.7 -265712 0.4 HDAC1 MEIS2 PKNOX1 ZNF837 GFI1B CEBPB YBX1 CEBPG IRF9 ZSCAN21 MIPOL1 NKX2-8 SLC25A21 ENSG00000258601 MIR4503
GH14I036504 Enhancer 1.1 VISTA ENCODE dbSUPER 11.1 +77.6 77632 0.8 RING1 SP1 SUZ12 POU5F1 CTBP2 EZH2 RALGAPA1 RPL29P3 NKX2-8 MBIP SFTA3 ENSG00000257520 GC14P036424 ENSG00000283098
GH14I037000 Enhancer 0.4 FANTOM5 28.6 -418.1 -418052 0.3 NBN FOXP1 MIPOL1 NKX2-8 SLC25A21 GC14P036975 GC14P037020
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

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

Top Transcription factor binding sites by QIAGEN in the NKX2-8 gene promoter:

Genomic Locations for NKX2-8 Gene

Genomic Locations for NKX2-8 Gene
2,597 bases
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:
    Recommended name:
    Homeobox protein Nkx-2.8
    Protein Accession:
    Secondary Accessions:
    • Q8IUT7

    Protein attributes for NKX2-8 Gene

    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

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

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



  • Belongs to the NK-2 homeobox 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

Phenotypes From GWAS Catalog 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 proximal promoter sequence-specific DNA binding IDA 12167706
GO:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IDA 12167706
GO:0003677 DNA binding IEA --
GO:0003690 double-stranded DNA binding IDA 9446603
GO:0003700 DNA binding transcription factor activity 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

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

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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
  • Plasma membrane (2)
See all subcellular structures

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 by RNA polymerase II 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

Drugs & Compounds for NKX2-8 Gene

No Compound Related Data Available

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

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
ECgene alternative splicing isoforms for

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:


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
(Pan troglodytes)
Mammalia NKX2-8 33 34
  • 99.58 (n)
(Bos Taurus)
Mammalia NKX2-8 33 34
  • 87.9 (n)
(Canis familiaris)
Mammalia NKX2-8 33 34
  • 86.86 (n)
(Rattus norvegicus)
Mammalia Nkx2-8 33
  • 79.97 (n)
(Mus musculus)
Mammalia Nkx2-9 33 16 34
  • 79.15 (n)
(Monodelphis domestica)
Mammalia NKX2-8 34
  • 56 (a)
(Gallus gallus)
Aves NKX2-8 33 34
  • 68 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia nkx2-8 33
  • 53.88 (n)
(Danio rerio)
Actinopterygii nkx2.9 33
  • 60.84 (n)
nkx2.2b 34
  • 39 (a)
fruit fly
(Drosophila melanogaster)
Insecta vnd 34
  • 13 (a)
(Caenorhabditis elegans)
Secernentea ceh-22 34
  • 21 (a)
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

Gene Tree for NKX2-8 (if available)
Gene Tree for NKX2-8 (if available)

Paralogs for NKX2-8 Gene

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 Variation AA Info Type
rs1000083871 -- 36,583,776(-) G/A upstream_transcript_variant
rs1001327309 -- 36,584,527(-) G/A upstream_transcript_variant
rs1001566772 -- 36,581,737(-) C/A intron_variant
rs1001640210 -- 36,581,403(-) C/T coding_sequence_variant, synonymous_variant
rs1001954386 -- 36,580,407(-) C/T 3_prime_UTR_variant

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)

Additional Variant Information for NKX2-8 Gene

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

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: HGMD, DISEASES, and GeneCards

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

Additional Disease Information for 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 GA … Locker J (The Journal of biological chemistry 1998) 2 3 4 58
  2. Regulation of alpha-fetoprotein expression by Nkx2.8. (PMID: 12167706) Kajiyama Y … Locker J (Molecular and cellular biology 2002) 3 22 58
  3. Dynamic changes in DNA methylation and hydroxymethylation when hES cells undergo differentiation toward a neuronal lineage. (PMID: 24087792) Kim M … Kim YS (Human molecular genetics 2014) 3 58
  4. Genome-wide association mapping in dogs enables identification of the homeobox gene, NKX2-8, as a genetic component of neural tube defects in humans. (PMID: 23874236) Safra N … Bannasch DL (PLoS genetics 2013) 3 58
  5. Methylation-specific digital karyotyping of HPV16E6E7-expressing human keratinocytes identifies novel methylation events in cervical carcinogenesis. (PMID: 23674368) Steenbergen RD … Van Criekinge W (The Journal of pathology 2013) 3 58

Products for NKX2-8 Gene

Sources for NKX2-8 Gene

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