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... See more...

Aliases for NKX2-5 Gene

Aliases for NKX2-5 Gene

  • NK2 Homeobox 5 2 3 5
  • NKX2.5 2 3 4
  • Homeobox Protein NK-2 Homolog E 3 4
  • Homeobox Protein Nkx-2.5 3 4
  • Homeobox Protein CSX 3 4
  • NKX4-1 2 3
  • NKX2E 3 4
  • CSX1 2 3
  • CSX 3 4
  • NK2 Transcription Factor Related, Locus 5 (Drosophila) 2
  • NK2 Transcription Factor Related, Locus 5 3
  • Tinman (Drosophila) Homolog 2
  • Cardiac-Specific Homeobox 1 3
  • Cardiac-Specific Homeo Box 2
  • Cardiac-Specific Homeobox 4
  • Homeobox Protein NKX 2-5 3
  • Tinman Homolog 3
  • Tinman Paralog 3
  • NKX 2-5 3
  • NKX2-5 5
  • CHNG5 3
  • HLHS2 3
  • VSD3 3

External Ids for NKX2-5 Gene

Previous HGNC Symbols for NKX2-5 Gene

  • CSX
  • NKX2E

Previous GeneCards Identifiers for NKX2-5 Gene

  • GC05M172916
  • GC05M173360
  • GC05M172594
  • GC05M172640
  • GC05M172591
  • GC05M172659
  • GC05M167754

Summaries for NKX2-5 Gene

Entrez Gene Summary for NKX2-5 Gene

  • 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]

GeneCards Summary for NKX2-5 Gene

NKX2-5 (NK2 Homeobox 5) is a Protein Coding gene. Diseases associated with NKX2-5 include Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects and Ventricular Septal Defect 3. Among its related pathways are Cardiac conduction and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is NKX2-3.

UniProtKB/Swiss-Prot Summary for NKX2-5 Gene

  • Transcription factor required for the development of the heart and the spleen (PubMed:22560297). During heart development, 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). Together with PBX1, required for spleen development through a mechanism that involves CDKN2B repression (PubMed:22560297).

Gene Wiki entry for NKX2-5 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NKX2-5 Gene

Genomics for NKX2-5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for NKX2-5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J173233 Promoter/Enhancer 1.5 EPDnew Ensembl dbSUPER 257.9 +0.0 20 9 ZIC2 ZNF341 KLF9 SP2 ZNF146 ZFP91 PRDM10 ZBTB48 ZNF2 ZNF189 NKX2-5 BNIP1 piR-36366-013 lnc-NKX2-5-1 HSALNG0046674-001
GH05J173265 Enhancer 1.1 VISTA FANTOM5 dbSUPER 28.5 -32.3 -32261 4.8 CEBPA ATF3 TAL1 TCF12 ATF4 CEBPG CEBPB NFIL3 HLF MAFK LOC105377731 NKX2-5 lnc-NKX2-5-3 STC2
GH05J172851 Enhancer 1.4 FANTOM5 ENCODE dbSUPER 6.6 +377.7 377701 12.6 IKZF1 SSRP1 ZMYM3 KLF9 CEBPA ATF3 ZIC2 CHD4 YY1 MXD4 ERGIC1 DUSP1 BOD1 LOC101928093 ENSG00000213386 ENSG00000253736 SH3PXD2B NKX2-5 CREBRF lnc-DUSP1-3
GH05J173255 Enhancer 0.7 VISTA Ensembl dbSUPER 12.6 -22.0 -21998 3.3 MEIS2 CEBPB PKNOX1 HSALNG0046682 lnc-NKX2-5-3 NKX2-5 RPL7AP33 STC2
GH05J173241 Enhancer 0.6 dbSUPER 7.7 -8.1 -8128 3.4 ZIC2 ZNF585B CBX8 SREBF1 ZNF184 EZH2 RNF2 USF2 POLR2A USF1 HSALNG0046681 lnc-NKX2-5-1 NKX2-5 BNIP1 HSALNG0046674-001 STC2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NKX2-5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NKX2-5

Top Transcription factor binding sites by QIAGEN in the NKX2-5 gene promoter:
  • AREB6
  • ITF-2
  • MyoD
  • Nkx2-5
  • Tal-1beta

Genomic Locations for NKX2-5 Gene

Latest Assembly
chr5:173,232,109-173,235,321
(GRCh38/hg38)
Size:
3,213 bases
Orientation:
Minus strand

Previous Assembly
chr5:172,659,112-172,662,209
(GRCh37/hg19 by Entrez Gene)
Size:
3,098 bases
Orientation:
Minus strand

chr5:172,659,112-172,662,360
(GRCh37/hg19 by Ensembl)
Size:
3,249 bases
Orientation:
Minus strand

Genomic View for NKX2-5 Gene

Genes around NKX2-5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NKX2-5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NKX2-5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NKX2-5 Gene

Proteins for NKX2-5 Gene

  • Protein details for NKX2-5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P52952-NKX25_HUMAN
    Recommended name:
    Homeobox protein Nkx-2.5
    Protein Accession:
    P52952
    Secondary Accessions:
    • A8K3K0
    • B4DNB6
    • E9PBU6

    Protein attributes for NKX2-5 Gene

    Size:
    324 amino acids
    Molecular mass:
    34918 Da
    Quaternary structure:
    • Homodimer (via the homeobox); binds DNA as homodimer (PubMed:22849347). Interacts (via the homeobox) with TBX5 (via the T-box); this complex binds DNA (PubMed:26926761). Interacts with HIPK1 and HIPK2, but not HIPK3. Interacts with the C-terminal zinc finger of GATA4 through its homeobox domain. Also interacts with JARID2 which represses its ability to activate transcription of ANF. Interacts with FBLIM1. Interacts with TBX18 (By similarity). Interacts with histone methyltransferase NSD2 (via HMG box) (By similarity).

    Three dimensional structures from OCA and Proteopedia for NKX2-5 Gene

    Alternative splice isoforms for NKX2-5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NKX2-5 Gene

Post-translational modifications for NKX2-5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NKX2-5 Gene

No data available for DME Specific Peptides for NKX2-5 Gene

Domains & Families for NKX2-5 Gene

Gene Families for NKX2-5 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for NKX2-5 Gene

Suggested Antigen Peptide Sequences for NKX2-5 Gene

GenScript: Design optimal peptide antigens:
  • NK2 transcription factor related locus 5 (A1ECB1_HUMAN)
  • NK2 transcription factor related locus 5 (A1ECB2_HUMAN)
  • NK2 transcription factor related locus 5 (A1ECB6_HUMAN)
  • NK2 transcription factor related locus 5 (A1ECB7_HUMAN)
  • NK2 transcription factor related locus 5 (A1ECB8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P52952

UniProtKB/Swiss-Prot:

NKX25_HUMAN :
  • The homeobox domain binds to double-stranded DNA (PubMed:22849347).
  • Belongs to the NK-2 homeobox family.
Domain:
  • The homeobox domain binds to double-stranded DNA (PubMed:22849347).
Family:
  • Belongs to the NK-2 homeobox family.
genes like me logo Genes that share domains with NKX2-5: view

Function for NKX2-5 Gene

Molecular function for NKX2-5 Gene

UniProtKB/Swiss-Prot Function:
Transcription factor required for the development of the heart and the spleen (PubMed:22560297). During heart development, 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). Together with PBX1, required for spleen development through a mechanism that involves CDKN2B repression (PubMed:22560297).

Phenotypes From GWAS Catalog for NKX2-5 Gene

Gene Ontology (GO) - Molecular Function for NKX2-5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000976 transcription regulatory region sequence-specific DNA binding IDA 19479054
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding ISS 8900537
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISA --
GO:0001216 bacterial-type RNA polymerase transcriptional activator activity, sequence-specific DNA binding IDA 29325903
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IMP 15649947
genes like me logo Genes that share ontologies with NKX2-5: view
genes like me logo Genes that share phenotypes with NKX2-5: view

Human Phenotype Ontology for NKX2-5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NKX2-5 Gene

MGI Knock Outs for NKX2-5:

Transcription Factor Targets for NKX2-5 Gene

Selected GeneGlobe predicted Target genes for NKX2-5
Targeted motifs for NKX2-5 Gene
HOMER Transcription Factor Regulatory Elements motif NKX2-5
  • Consensus sequence: AASCACTCAA Submotif: canonical Cell Type: HL1 GEO ID: GSE21529

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NKX2-5

No data available for Enzyme Numbers (IUBMB) for NKX2-5 Gene

Localization for NKX2-5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NKX2-5 Gene

Subcellular locations from

COMPARTMENTS
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 NKX2-5 gene
Compartment Confidence
nucleus 5
cytoskeleton 3
plasma membrane 2
extracellular 2
mitochondrion 2
endoplasmic reticulum 2
cytosol 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for NKX2-5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin ISA --
GO:0005634 nucleus IEA,IDA 9858576
GO:0005667 transcription factor complex IC 9312027
GO:0032991 protein-containing complex IDA 26926761
GO:0032993 protein-DNA complex IDA 22849347
genes like me logo Genes that share ontologies with NKX2-5: view

Pathways & Interactions for NKX2-5 Gene

genes like me logo Genes that share pathways with NKX2-5: view

Pathways by source for NKX2-5 Gene

6 Qiagen pathways for NKX2-5 Gene
  • BMP Pathway
  • Cardiomyocyte Differentiation through BMP Receptors
  • Factors Promoting Cardiogenesis in Vertebrates
  • HOP Signaling
  • NFAT and Cardiac Hypertrophy
1 Cell Signaling Technology pathway for NKX2-5 Gene

SIGNOR curated interactions for NKX2-5 Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:
Other effect:

Gene Ontology (GO) - Biological Process for NKX2-5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II ISS 8900537
GO:0001570 vasculogenesis ISS 8900537
GO:0001947 heart looping ISS 8900537
GO:0003007 heart morphogenesis ISS 8900537
GO:0003148 outflow tract septum morphogenesis IMP 20807224
genes like me logo Genes that share ontologies with NKX2-5: view

Drugs & Compounds for NKX2-5 Gene

(3) Drugs for NKX2-5 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with NKX2-5: view

Transcripts for NKX2-5 Gene

mRNA/cDNA for NKX2-5 Gene

3 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NKX2-5

Alternative Splicing Database (ASD) splice patterns (SP) for NKX2-5 Gene

No ASD Table

Relevant External Links for NKX2-5 Gene

GeneLoc Exon Structure for
NKX2-5

Expression for NKX2-5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NKX2-5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NKX2-5 Gene

This gene is overexpressed in Heart - Left Ventricle (x26.3), Heart - Atrial Appendage (x21.1), and Spleen (x4.6).

Protein differential expression in normal tissues from HIPED for NKX2-5 Gene

This gene is overexpressed in Heart (43.0) and Fetal heart (26.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for NKX2-5 Gene



Protein tissue co-expression partners for NKX2-5 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NKX2-5

SOURCE GeneReport for Unigene cluster for NKX2-5 Gene:

Hs.54473

mRNA Expression by UniProt/SwissProt for NKX2-5 Gene:

P52952-NKX25_HUMAN
Tissue specificity: Expressed only in the heart.

Evidence on tissue expression from TISSUES for NKX2-5 Gene

  • Heart(4.8)
  • Spleen(4.4)
  • Pancreas(4.3)
  • Lung(4.3)
  • Muscle(3.5)
  • Skin(2.1)
  • Blood(2.1)
  • Liver(2.1)
  • Nervous system(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NKX2-5 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • hypothalamus
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • pituitary gland
  • skull
  • thyroid
  • tongue
Thorax:
  • aorta
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • intestine
  • large intestine
  • liver
  • small intestine
  • spleen
Pelvis:
  • pelvis
  • rectum
  • testicle
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with NKX2-5: view

Primer products for research

Orthologs for NKX2-5 Gene

This gene was present in the common ancestor of animals.

Orthologs for NKX2-5 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia NKX2-5 29 30
  • 99.28 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia NKX2.5 30
  • 94 (a)
OneToOne
NKX2-5 29
  • 91.3 (n)
Cow
(Bos Taurus)
Mammalia NKX2-5 29 30
  • 91.12 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Nkx2-5 29 16 30
  • 86.06 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Nkx2-5 29
  • 86.06 (n)
Oppossum
(Monodelphis domestica)
Mammalia NKX2-5 30
  • 72 (a)
OneToOne
Chicken
(Gallus gallus)
Aves NKX2-5 29 30
  • 70.75 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia NKX2-5 30
  • 58 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia nkx2-5 29
  • 64.63 (n)
African clawed frog
(Xenopus laevis)
Amphibia nkx2.5-prov 29
Zebrafish
(Danio rerio)
Actinopterygii nkx2.5 29 30
  • 59.96 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta tin 30
  • 19 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea ceh-28 30
  • 34 (a)
OneToMany
Species where no ortholog for NKX2-5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 Vase (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 NKX2-5 Gene

ENSEMBL:
Gene Tree for NKX2-5 (if available)
TreeFam:
Gene Tree for NKX2-5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NKX2-5: view image
Alliance of Genome Resources:
Additional Orthologs for NKX2-5

Paralogs for NKX2-5 Gene

(49) SIMAP similar genes for NKX2-5 Gene using alignment to 8 proteins:

  • NKX25_HUMAN
  • A1ECB1_HUMAN
  • A1ECB2_HUMAN
  • A1ECB6_HUMAN
  • A1ECB7_HUMAN
  • A1ECB8_HUMAN
  • A1ECD1_HUMAN
  • E5RH49_HUMAN
genes like me logo Genes that share paralogs with NKX2-5: view

Variants for NKX2-5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NKX2-5 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
1005225 Uncertain Significance: Atrial septal defect 7 with or without atrioventricular conduction defects 173,234,800(-) C/A
NM_004387.4(NKX2-5):c.284G>T (p.Arg95Leu)
MISSENSE
1008406 Uncertain Significance: Atrial septal defect 7 with or without atrioventricular conduction defects 173,232,911(-) CGGCGGCGGG/C
NM_004387.4(NKX2-5):c.624_632del (p.Pro212_Pro214del)
INFRAME_DELETION,THREE_PRIME_UTR
1012753 Uncertain Significance: not provided 173,233,467(-) G/C
NM_004387.4(NKX2-5):c.335-258C>G
THREE_PRIME_UTR_VARIANT,INTRON
1014728 Uncertain Significance: Atrial septal defect 7 with or without atrioventricular conduction defects 173,232,740(-) G/C
NM_004387.4(NKX2-5):c.804C>G (p.Tyr268Ter)
NONSENSE,THREE_PRIME_UTR
1016187 Uncertain Significance: Atrial septal defect 7 with or without atrioventricular conduction defects 173,232,894(-) C/T
NM_004387.4(NKX2-5):c.650G>A (p.Arg217Lys)
MISSENSE_VARIANT,THREE_PRIME_UTR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for NKX2-5 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for NKX2-5 Gene

Variant ID Type Subtype PubMed ID
esv3575898 CNV gain 25503493
nsv950444 CNV deletion 24416366

Variation tolerance for NKX2-5 Gene

Residual Variation Intolerance Score: 68.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.01; 37.03% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NKX2-5 Gene

Human Gene Mutation Database (HGMD)
NKX2-5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NKX2-5
Leiden Open Variation Database (LOVD)
NKX2-5

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NKX2-5 Gene

Disorders for NKX2-5 Gene

MalaCards: The human disease database

(77) MalaCards diseases for NKX2-5 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

UniProtKB/Swiss-Prot

NKX25_HUMAN
  • Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900]: A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria, and atrioventricular conduction defects in some cases. {ECO:0000269 PubMed:10587520, ECO:0000269 PubMed:14607454, ECO:0000269 PubMed:15342699, ECO:0000269 PubMed:15810002, ECO:0000269 PubMed:9651244}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Tetralogy of Fallot (TOF) [MIM:187500]: A congenital heart anomaly which consists of pulmonary stenosis, ventricular septal defect, dextroposition of the aorta (aorta is on the right side instead of the left) and hypertrophy of the right ventricle. In this condition, blood from both ventricles (oxygen-rich and oxygen-poor) is pumped into the body often causing cyanosis. {ECO:0000269 PubMed:10587520, ECO:0000269 PubMed:11714651, ECO:0000269 PubMed:14607454}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Conotruncal heart malformations (CTHM) [MIM:217095]: A group of congenital heart defects involving the outflow tracts. Examples include truncus arteriosus communis, double-outlet right ventricle and transposition of great arteries. Truncus arteriosus communis is characterized by a single outflow tract instead of a separate aorta and pulmonary artery. In transposition of the great arteries, the aorta arises from the right ventricle and the pulmonary artery from the left ventricle. In double outlet of the right ventricle, both the pulmonary artery and aorta arise from the right ventricle. {ECO:0000269 PubMed:14607454, ECO:0000269 PubMed:17891434}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Hypothyroidism, congenital, non-goitrous, 5 (CHNG5) [MIM:225250]: A non-autoimmune condition characterized by resistance to thyroid-stimulating hormone (TSH) leading to increased levels of plasma TSH and low levels of thyroid hormone. CHNG5 presents variable severity depending on the completeness of the defect. Most patients are euthyroid and asymptomatic, with a normal sized thyroid gland. Only a subset of patients develop hypothyroidism and present a hypoplastic thyroid gland. {ECO:0000269 PubMed:16418214}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Ventricular septal defect 3 (VSD3) [MIM:614432]: A common form of congenital cardiovascular anomaly that may occur alone or in combination with other cardiac malformations. It can affect any portion of the ventricular septum, resulting in abnormal communications between the two lower chambers of the heart. Classification is based on location of the communication, such as perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular defect. Large defects that go unrepaired may give rise to cardiac enlargement, congestive heart failure, pulmonary hypertension, Eisenmenger's syndrome, delayed fetal brain development, arrhythmias, and even sudden cardiac death. {ECO:0000269 PubMed:21110066, ECO:0000269 PubMed:21165553}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Hypoplastic left heart syndrome 2 (HLHS2) [MIM:614435]: A syndrome due to defective development of the aorta proximal to the entrance of the ductus arteriosus, and hypoplasia of the left ventricle and mitral valve. As a result of the abnormal circulation, the ductus arteriosus and foramen ovale are patent and the right atrium, right ventricle, and pulmonary artery are enlarged. {ECO:0000269 PubMed:14607454, ECO:0000269 PubMed:15810002}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for NKX2-5

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Publications for NKX2-5 Gene

  1. The effect of p.Arg25Cys alteration in NKX2-5 on conotruncal heart anomalies: mutation or polymorphism? (PMID: 17891434) Akçaboy MI … Tekin M (Pediatric cardiology 2008) 3 4 22 40
  2. Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. (PMID: 10587520) Benson DW … Kugler JD (The Journal of clinical investigation 1999) 3 4 22 72
  3. Molecular cloning, chromosomal mapping, and characterization of the human cardiac-specific homeobox gene hCsx. (PMID: 8900537) Turbay D … Izumo S (Molecular medicine (Cambridge, Mass.) 1996) 2 3 4 22
  4. Congenital asplenia in mice and humans with mutations in a Pbx/Nkx2-5/p15 module. (PMID: 22560297) Koss M … Selleri L (Developmental cell 2012) 3 4 72
  5. A novel NKX2-5 mutation in familial ventricular septal defect. (PMID: 21165553) Wang J … Yang YQ (International journal of molecular medicine 2011) 3 4 72

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Sources for NKX2-5 Gene