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NKX2-1 NK2 homeobox 1 [ Homo sapiens (human) ]

Gene ID: 7080, updated on 11-Jun-2021

Summary

Official Symbol
NKX2-1provided by HGNC
Official Full Name
NK2 homeobox 1provided by HGNC
Primary source
HGNC:HGNC:11825
See related
Ensembl:ENSG00000136352 MIM:600635
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
BCH; BHC; NK-2; TEBP; TTF1; NKX2A; NMTC1; T/EBP; TITF1; TTF-1; NKX2.1
Summary
This gene encodes a protein initially identified as a thyroid-specific transcription factor. The encoded protein binds to the thyroglobulin promoter and regulates the expression of thyroid-specific genes but has also been shown to regulate the expression of genes involved in morphogenesis. Mutations and deletions in this gene are associated with benign hereditary chorea, choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress, and may be associated with thyroid cancer. Multiple transcript variants encoding different isoforms have been found for this gene. This gene shares the symbol/alias 'TTF1' with another gene, transcription termination factor 1, which plays a role in ribosomal gene transcription. [provided by RefSeq, Feb 2014]
Annotation information
Note: TTF1 (GeneID 7270) and NKX2-1 (GeneID 7080) loci share the TTF1 symbol/alias in common. TTF1 is a widely used alternative name for thyroid transcription factor 1 (NKX2-1) conflicting with the official symbol for transcription termination factor, RNA polymerase I (TTF1). [13 Feb 2013]
Expression
Biased expression in lung (RPKM 35.0) and thyroid (RPKM 29.1) See more
Orthologs
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Genomic context

See NKX2-1 in Genome Data Viewer
Location:
14q13.3
Exon count:
3
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (36516397..36520232, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (36985602..36989437, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene VISTA enhancer hs704 Neighboring gene surfactant associated 3 Neighboring gene VISTA enhancer hs1166 Neighboring gene NKX2-1 antisense RNA 1 Neighboring gene uncharacterized LOC105370453 Neighboring gene phosphorylase kinase regulatory subunit beta pseudogene 2 Neighboring gene ribosomal protein L29 pseudogene 3

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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Benign hereditary chorea
MedGen: C0393584 OMIM: 118700 GeneReviews: NKX2-1-Related Disorders
Compare labs
Choreoathetosis, hypothyroidism, and neonatal respiratory distress
MedGen: C1970269 OMIM: 610978 GeneReviews: NKX2-1-Related Disorders
Compare labs
Common variants on 9q22.33 and 14q13.3 predispose to thyroid cancer in European populations.
GeneReviews: Not available
Genome wide association study of age at menarche in the Japanese population.
GeneReviews: Not available
Identification of ten loci associated with height highlights new biological pathways in human growth.
GeneReviews: Not available
Nonmedullary thyroid carcinoma 1
MedGen: C4721429 OMIM: 188550 GeneReviews: Not available
Compare labs

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables DNA-binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
enables DNA-binding transcription factor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables intronic transcription regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables intronic transcription regulatory region sequence-specific DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables transcription cis-regulatory region binding IDA
Inferred from Direct Assay
more info
PubMed 
enables transcription cis-regulatory region binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in Leydig cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in anatomical structure formation involved in morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in axon guidance IEA
Inferred from Electronic Annotation
more info
 
involved_in brain development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cerebral cortex GABAergic interneuron differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in cerebral cortex cell migration IEA
Inferred from Electronic Annotation
more info
 
involved_in club cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in developmental induction IEA
Inferred from Electronic Annotation
more info
 
involved_in endoderm development IEA
Inferred from Electronic Annotation
more info
 
involved_in epithelial tube branching involved in lung morphogenesis IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in forebrain development IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in forebrain dorsal/ventral pattern formation IEA
Inferred from Electronic Annotation
more info
 
involved_in forebrain neuron fate commitment IEA
Inferred from Electronic Annotation
more info
 
involved_in globus pallidus development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in hippocampus development IEA
Inferred from Electronic Annotation
more info
 
involved_in locomotory behavior IEA
Inferred from Electronic Annotation
more info
 
involved_in lung development IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in lung saccule development IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of cell migration IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of epithelial to mesenchymal transition IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of transcription, DNA-templated ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of transforming growth factor beta receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
involved_in neuron migration IEA
Inferred from Electronic Annotation
more info
 
involved_in oligodendrocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in phospholipid metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in pituitary gland development IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of circadian rhythm ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of gene expression IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of transcription, DNA-templated IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of transcription, DNA-templated ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in response to hormone IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in rhythmic process IEA
Inferred from Electronic Annotation
more info
 
involved_in thyroid gland development IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in thyroid gland development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in type II pneumocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in chromatin ISA
Inferred from Sequence Alignment
more info
 
located_in nucleoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
part_of transcription regulator complex IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
homeobox protein Nkx-2.1
Names
NK-2 homolog A
homeobox protein NK-2 homolog A
thyroid nuclear factor 1
thyroid transcription factor 1
thyroid-specific enhancer-binding protein

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_013365.1 RefSeqGene

    Range
    4994..8829
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001079668.3NP_001073136.1  homeobox protein Nkx-2.1 isoform 1

    See identical proteins and their annotated locations for NP_001073136.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer protein (isoform 1).
    Source sequence(s)
    AL132857, BM970287, U43203
    Consensus CDS
    CCDS41945.1
    UniProtKB/Swiss-Prot
    P43699
    Related
    ENSP00000346879.6, ENST00000354822.7
    Conserved Domains (1) summary
    pfam00046
    Location:194247
    Homeobox; Homeobox domain
  2. NM_003317.4NP_003308.1  homeobox protein Nkx-2.1 isoform 2

    See identical proteins and their annotated locations for NP_003308.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding region compared to variant 1. The resulting protein (isoform 2) is shorter and has a distinct N-terminus compared to isoform 1.
    Source sequence(s)
    BC006221, BM970838, U33749
    Consensus CDS
    CCDS9659.1
    UniProtKB/Swiss-Prot
    P43699
    Related
    ENSP00000429607.2, ENST00000498187.6
    Conserved Domains (1) summary
    pfam00046
    Location:164217
    Homeobox; Homeobox domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    36516397..36520232 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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