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Tbio
NKX2-5
Homeobox protein Nkx-2.5

Protein Summary
Description
Implicated in commitment to and/or differentiation of the myocardial lineage. Acts as a transcriptional activator of ANF in cooperation with GATA4 (By similarity). Binds to the core DNA motif of NPPA promoter (PubMed:22849347, PubMed:26926761). It is transcriptionally controlled by PBX1 and acts as a transcriptional repressor of CDKN2B (By similarity). It is required for spleen development. This gene encodes a homeobox-containing transcription factor. This transcription factor functions in heart formation and development. Mutations in this gene cause atrial septal defect with atrioventricular conduction defect, and also tetralogy of Fallot, which are both heart malformation diseases. Mutations in this gene can also cause congenital hypothyroidism non-goitrous type 5, a non-autoimmune condition. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000329198
  • ENSP00000327758
  • ENSG00000183072
  • ENST00000424406
  • ENSP00000395378
  • ENST00000521848
  • ENSP00000427906

Symbol
  • CSX
  • NKX2.5
  • NKX2E
  • CSX
  • CSX1
  • VSD3
  • CHNG5
  • HLHS2
  • NKX2E
  • NKX2.5
  • NKX4-1
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
biological process
1
molecular function
0.99
phenotype
0.75
cell type or tissue
0.65
PubMedID
0.63


Related Tools
Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 817.92   (req: < 5)
Gene RIFs: 136   (req: <= 3)
Antibodies: 468   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 817.92   (req: >= 5)
Gene RIFs: 136   (req: > 3)
Antibodies: 468   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 69
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
GWAS Traits (4)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
2
2
0
1.1
80.2
TPE interval measurement
1
2
2
57.4
heart rate
1
1
1
18.1
lymphocyte count
1
1
1
5.3
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
0
1.1
80.2
TPE interval measurement
2
57.4
heart rate
1
18.1
lymphocyte count
1
5.3
Orthologs (11)
1 – 5 of 11
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
NK2 homeobox 5
VGNC:4100
462273
Mouse
MGI:97350
18091
Rat
RGD:620520
114109
Dog
NK2 homeobox 5
VGNC:43834
489113
Horse
NK2 homeobox 5
VGNC:20756
100069632
Species
Name
OMA
EggNOG
Inparanoid
Chimp
NK2 homeobox 5
Mouse
Rat
Dog
NK2 homeobox 5
Horse
NK2 homeobox 5
Protein Structure (2 Structures, 1 AlphaFold Model)
RepresentationColor Scheme

Click on a row in the table to change the structure displayed.
More information can be found at RCSB PDB

AF-P52952-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

1 – 2 of 2
PDB Structure Id
Ligand
Method
Resolution (Å)
Residues
Fraction of Total Protein
Pub Year
Title
PDB Structure Id
Fraction of Total Protein
Resolution
Pub Year
Pathways (12)
Cardiac conduction (R-HSA-5576891)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 5 of 7
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Cardiac conduction
Reactome
Gene expression (Transcription)
Reactome
Generic Transcription Pathway
Reactome
Muscle contraction
Reactome
Physiological factors
Name
Explore in Pharos
Explore in Source
Cardiac conduction
Gene expression (Transcription)
Generic Transcription Pathway
Muscle contraction
Physiological factors
Gene Ontology Terms (75)
Items per page:
10
1 – 10 of 14
GO Term
Evidence
Assigned by
Inferred from Direct Assay (IDA)
MGI
Inferred from Direct Assay (IDA)
BHF-UCL
Inferred from Direct Assay (IDA)
BHF-UCL
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Direct Assay (IDA)
BHF-UCL
Inferred from Direct Assay (IDA)
BHF-UCL
Inferred from Physical Interaction (IPI)
BHF-UCL
Inferred from Mutant Phenotype (IMP)
NTNU_SB
Inferred from Sequence or structural Similarity (ISS)
BHF-UCL
Protein-Protein Interactions (224)
1 – 10 of 224
FBLIM1
Tbio
Novelty: 0.0332985
p_int: 0.999999779
p_ni: 7.3e-8
p_wrong: 1.48e-7
Score: 0.318
Data Source: BioPlex,STRINGDB
GRB2
Tchem
Novelty: 0.00091605
p_int: 0.999997239
p_ni: 1.69e-7
p_wrong: 0.000002592
Score: 0.238
Data Source: BioPlex,STRINGDB
PRM2
Tbio
Novelty: 0.0050028
p_int: 0.819409653
p_ni: 0.000005885
p_wrong: 0.180584462
Data Source: BioPlex
TBX5
Tbio
Family: TF
Novelty: 0.00272208
Score: 0.998
Data Source: STRINGDB
GATA4
Tbio
Family: TF
Novelty: 0.00094282
Score: 0.998
Data Source: Reactome,STRINGDB
HAND2
Tbio
Family: TF
Novelty: 0.00478924
Score: 0.992
Data Source: STRINGDB
MEF2C
Tbio
Family: TF
Novelty: 0.00232724
Score: 0.991
Data Source: STRINGDB
SRF
Tbio
Family: TF
Novelty: 0.00088839
Score: 0.986
Data Source: STRINGDB
MYL2
Tbio
Novelty: 0.0018887
Score: 0.976
Data Source: STRINGDB
BMP4
Tchem
Novelty: 0.00047387
Score: 0.976
Data Source: STRINGDB
Publication Statistics
PubMed Score  817.92

PubMed score by year
PubTator Score  542

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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