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NKX2-8 NK2 homeobox 8 [ Homo sapiens (human) ]

Gene ID: 26257, updated on 5-Dec-2018

Summary

Official Symbol
NKX2-8provided by HGNC
Official Full Name
NK2 homeobox 8provided by HGNC
Primary source
HGNC:HGNC:16364
See related
Ensembl:ENSG00000136327 MIM:603245
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NKX2H; NKX2.8; Nkx2-9
Summary
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]
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See NKX2-8 in Genome Data Viewer
Location:
14q13.3
Exon count:
2
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 14 NC_000014.9 (36580011..36582614, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (37049216..37051786, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370453 Neighboring gene phosphorylase kinase regulatory subunit beta pseudogene 2 Neighboring gene ribosomal protein L29 pseudogene 3 Neighboring gene RNA, 7SK small nuclear pseudogene 257 Neighboring gene uncharacterized LOC105370455 Neighboring gene PAX9 promoter region Neighboring gene paired box 9

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
axonogenesis IEA
Inferred from Electronic Annotation
more info
 
cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
liver development NAS
Non-traceable Author Statement
more info
PubMed 
lung development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of epithelial cell proliferation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cellular_component ND
No biological Data available
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
homeobox protein Nkx-2.8
Names
NK-2 homolog 8
NK-2 homolog H
NK2 transcription factor related, locus 8
homeobox protein NK-2 homolog H

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_014360.3NP_055175.2  homeobox protein Nkx-2.8

    See identical proteins and their annotated locations for NP_055175.2

    Status: REVIEWED

    Source sequence(s)
    AK313537, BC041090, DA438523
    Consensus CDS
    CCDS9660.1
    UniProtKB/Swiss-Prot
    O15522
    Related
    ENSP00000258829.4, ENST00000258829.5
    Conserved Domains (1) summary
    pfam00046
    Location:87140
    Homeobox; Homeobox domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p12 Primary Assembly

    Range
    36580011..36582614 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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