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NKX2-6 NK2 homeobox 6 [ Homo sapiens (human) ]

Gene ID: 137814, updated on 17-Sep-2022

Summary

Official Symbol
NKX2-6provided by HGNC
Official Full Name
NK2 homeobox 6provided by HGNC
Primary source
HGNC:HGNC:32940
See related
Ensembl:ENSG00000180053 MIM:611770; AllianceGenome:HGNC:32940
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
CSX2; CTHM; NKX2F; NKX4-2
Summary
This gene encodes a homeobox-containing protein that belongs to the NK-2 homeobox family. This protein is a vertebrate homolog of Drosophila homeobox-containing protein called 'tinman', which has been shown to be essential for development of the heart-like dorsal vessel. In conjunction with related gene, NKX2-5, this gene may play a role in both pharyngeal and cardiac embryonic development. Mutations in this gene are associated with persistent truncus arteriosus.[provided by RefSeq, Aug 2011]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

See NKX2-6 in Genome Data Viewer
Location:
8p21.2
Exon count:
2
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (23701740..23706756, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (23976698..23981714, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (23559253..23564269, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene SINHCAF pseudogene 3 Neighboring gene uncharacterized LOC107986930 Neighboring gene NK3 homeobox 1 Neighboring gene uncharacterized LOC124901910 Neighboring gene uncharacterized LOC101929258 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:23618596-23619795

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Conotruncal heart malformations
MedGen: C1857586 OMIM: 217095 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Beyond single-marker analyses: mining whole genome scans for insights into treatment responses in severe sepsis.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in atrial cardiac muscle cell development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in digestive tract development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in embryonic heart tube development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in embryonic heart tube development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in epithelial cell apoptotic process IEA
Inferred from Electronic Annotation
more info
 
involved_in epithelial cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in epithelial cell proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in hypothalamus development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of epithelial cell apoptotic process IEA
Inferred from Electronic Annotation
more info
 
involved_in pericardium development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in pharyngeal system development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of cell population proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of epithelial cell proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in tongue development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in ventricular cardiac muscle cell development ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
located_in chromatin ISA
Inferred from Sequence Alignment
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleus IC
Inferred by Curator
more info
PubMed 

General protein information

Preferred Names
homeobox protein Nkx-2.6
Names
NK2 transcription factor related, locus 6
homeobox protein NK2 homolog F
homeobox protein NKX2.6
tinman homolog
tinman paralog

NCBI Reference Sequences (RefSeq)

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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.

Genomic

  1. NG_030636.1 RefSeqGene

    Range
    4843..9859
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001136271.3NP_001129743.2  homeobox protein Nkx-2.6

    See identical proteins and their annotated locations for NP_001129743.2

    Status: REVIEWED

    Source sequence(s)
    AC012574
    UniProtKB/Swiss-Prot
    A6NCS4
    Related
    ENSP00000320089.3, ENST00000325017.4
    Conserved Domains (1) summary
    smart00389
    Location:132188
    HOX; Homeodomain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    23701740..23706756 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    23976698..23981714 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)