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NKX2-5 (NK2 transcription factor related, locus 5 (Drosophila).

Written2005-03Roderick MacLeod, Stefan Nagel
DSMZ-Deutsche Sammlung von, Mikroorganismen und Zellkulturen, Inhoffenstr. 7B, D-38124 Braunschweig, Germany

(Note : for Links provided by Atlas : click)

Identity

Alias_namesCSX
NKX2E
cardiac-specific homeo box
NK2 transcription factor related, locus 5 (Drosophila)
Alias_symbol (synonym)CSX1
NKX2.5
NKX4-1
Other aliasHs.54473
NM_004387
cardiac-specific homeobox
HGNC (Hugo) NKX2-5
LocusID (NCBI) 1482
Atlas_Id 42958
Location 5q35.1  [Link to chromosome band 5q35]
Location_base_pair Starts at 173232104 and ends at 173235312 bp from pter ( according to hg19-Feb_2009)  [Mapping NKX2-5.png]
Local_order cen--- BNIP1---NKX2-5--- STC2---tel
Fusion genes
(updated 2016)
BCL11B (14q32.2) / NKX2-5 (5q35.1)TLX3 (5q35.1) / NKX2-5 (5q35.1)TRA () / NKX2-5 (5q35.1)
TRD () / NKX2-5 (5q35.1)

DNA/RNA

 
  The gene for NKX2-5 comprizes two exons of 510 and 1075 bp, respectively. The length of the intron is 1540 bp. Positions of start and stop codons are indicated. These data refer to ENSEMBL transcript
Description The gene has two exons and one intron.
Transcription Transcription takes place in a telomere --> centromere orientation. The length of the processed mRNA is about 1500 bp.
Pseudogene Not known

Protein

 
  Figure shows mutations causing various cardiac anomalies. NKX2-5 contains two exons encoding a 324-amino acid protein including a tinman domain (TN), homeodomain (black) and an NK2 domain. Truncation mutations are shown above, missense mutations below. ? indicates deletion of the intron 1 splice donor site. Note clustering of mutations within the homeobox itself.
Description 324 amino acids; 35-38 kDa, depending on phosphorylation status; contains one TN domain (residues 10-21), one homeodomain (residues 138-197), and one NK2 domain (residues 212-234).
Expression Expression is mainly restricted to the heart. But during embryogenesis NKX2-5 expression has also been detected in spleen-precursor cells.
Localisation Cytoplasmatic and nuclear, probably depending on phosphorylation status
Function Involved in differentiation processes in heart development and in homeostasis and survival of cardiac myocytes.
Homology Homeodomain protein with membership of the NK2 / NKX family.

Mutations

Note Among vertebrates, NKX2-5 is the most highly conserved of the Drosophila tinman homologs and subject to transcriptional control via complex series of cis-regulatory elements both proximal and distal of the transcription unit.
Germinal Haploinsufficiency due to loss-of-function mutations is associated with atrioventricular conduction defects and tetralogy of Fallot
Somatic Recently identified in cardiac disease.

Implicated in

Note
  
Entity t(5;14)(q35;q32) in acute lymphoblastic leukaemia (ALL) and t(5;14)(q35;q11) in chronic lymphocytic leukaemia
Note NKX2-5 lies circa 2 Mbp telomeric of TLX3 which is recurrently targeted for juxtaposition with BCL11B by t(5;14)(q35;q32) in a subset of patients (both pediatric and adult) in T-cell ALL. Studies performed on pediatric T-ALL cell lines have shown that visually identical t(5;14) rearrangements may target NKX2-5 or TLX3 . Initial data suggest that the t(5;14) variant targeting NKX2-5 is clinically rare . The clinical involvement t(5;14)/NKX2-5 has only been recently identified but has yet to be published.
In addition to T-ALL, NKX2-5 rearrangement has been reported in a case of chronic lymphocytic leukaemia (CLL) with t(5;14)(q35;q11) where the activating partner at 14q11 is TCRA/TCRD.
Prognosis Unknown
Cytogenetics The t(5;14) rearrangements respectively targeting NKX2-5 and TLX3 which lies about 2Mbp centromeric are cytogenetically indistinguishable in both conventionally banded and chromosome painting preparations. In addition, both sets of rearrangements are cryptic as equal and similarly banded material from chromosomes 5 and 14 are exchanged. Thus, analysis using sets of BAC clones covering both TLX3 and NKX2-5 loci is necessary to distinguish these rearrangements.
Hybrid/Mutated Gene No
 
Figure shows FISH analysis of t(5;14) in the pediatric T-ALL cell line PEER using three RP11 library clones located immediately centromeric (779o18, labelled red), spanning (466h21, green) and telomeric (45g21, yellow) of NKX2-5. (See below for map.) The rearrangement may be a simple insertion or, a double translocation whereby chromosome 14 material is first translocated onto the der(5) and then returned by a non-reciprocal copying process to the der(14) accompanied by genomic material surrounding NKX2-5.
Abnormal Protein No
Oncogenesis NKX2-5 is developmentally silenced in thymocytes. Formation of t(5;14) juxtaposes NKX2-5 with enhancer elements probably cognate with T-cell specific DNaseI hypersensitive sites present in the downstream regulatory region of BCL11B which plays a central role in thymic maturation. It is believed that both TLX3 and NKX2-5 are reactivated by similar mechanisms involving juxtaposition with T-cell specific regulatory regions. Structural similarities shared by NKX2-5, TLX1 and TLX3 add weight to this hypothesis.
  

Breakpoints

 
  Figure shows breakpoints described in ALL cell lines with t(5;14)(q35.2;q32) which juxtaposes NKX2-5 with the downstream region of BCL11B - outer breakpoints; and in a case of CLL with t(5;14)(q35.2;q11) where the activating locus was TRD - middle breakpoint. Completion of sequencing data at the NKX2-5 locus has repositioned some of the BAC clones, allowing further refinement of the breakpoint assignments. It is now clear that known breakpoints tightly flank NKX2-5 without disrupting the transcription unit itself. Thus, NKX2-5 translocations may also involve disruption of cis-regulatory elements as has been shown for TLX1(HOX11) in t(10;14)(q24;q11) in T-ALL.

Bibliography

t(5;14)/HOX11L2-positive T-cell acute lymphoblastic leukemia. A collaborative study of the Groupe Français de Cytogénétique Hématologique (GFCH).
Berger R, Dastugue N, Busson M, Van Den Akker J, Pérot C, Ballerini P, Hagemeijer A, Michaux L, Charrin C, Pages MP, Mugneret F, Andrieux J, Talmant P, Hélias C, Mauvieux L, Lafage-Pochitaloff M, Mozziconacci MJ, Cornillet-Lefebvre P, Radford I, Asnafi V, Bilhou-Nabera C, Nguyen Khac F, Léonard C, Speleman F, Poppe B, Bastard C, Taviaux S, Quilichini B, Herens C, Grégoire MJ, Cavé H, Groupe Français de Cytogénétique Hématologique (GFCH), Bernard OA
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 2003 ; 17 (9) : 1851-1857.
PMID 12970786
 
A new recurrent and specific cryptic translocation, t(5;14)(q35;q32), is associated with expression of the Hox11L2 gene in T acute lymphoblastic leukemia.
Bernard OA, Busson-LeConiat M, Ballerini P, Mauchauffé M, Della Valle V, Monni R, Nguyen Khac F, Mercher T, Penard-Lacronique V, Pasturaud P, Gressin L, Heilig R, Daniel MT, Lessard M, Berger R
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 2001 ; 15 (10) : 1495-1504.
PMID 11587205
 
The functional mapping of long-range transcription control elements of the HOX11 proto-oncogene.
Brake RL, Chatterjee PK, Kees UR, Watt PM
Biochemical and biophysical research communications. 2004 ; 313 (2) : 327-335.
PMID 14684164
 
Identifying gene regulatory elements by genome-wide recovery of DNase hypersensitive sites.
Crawford GE, Holt IE, Mullikin JC, Tai D, Blakesley R, Bouffard G, Young A, Masiello C, Green ED, Wolfsberg TG, National Institutes Of Health Intramural Sequencing Center, Collins FS
Proceedings of the National Academy of Sciences of the United States of America. 2004 ; 101 (4) : 992-997.
PMID 14732688
 
NK-2 homeobox genes and heart development.
Harvey RP
Developmental biology. 1996 ; 178 (2) : 203-216.
PMID 8812123
 
Atrial form and function: lessons from human molecular genetics.
Hatcher CJ, Kim MS, Basson CT
Trends in cardiovascular medicine. 2000 ; 10 (3) : 93-101.
PMID 11428001
 
Function follows form: cardiac conduction system defects in Nkx2-5 mutation.
Jay PY, Harris BS, Buerger A, Rozhitskaya O, Maguire CT, Barbosky LA, McCusty E, Berul CI, O'brien TX, Gourdie RG, Izumo S
The anatomical record. Part A, Discoveries in molecular, cellular, and evolutionary biology. 2004 ; 280 (2) : 966-972.
PMID 15368343
 
Identification of the in vivo casein kinase II phosphorylation site within the homeodomain of the cardiac tisue-specifying homeobox gene product Csx/Nkx2.5.
Kasahara H, Izumo S
Molecular and cellular biology. 1999 ; 19 (1) : 526-536.
PMID 9858576
 
Nkx-2.5: a novel murine homeobox gene expressed in early heart progenitor cells and their myogenic descendants.
Lints TJ, Parsons LM, Hartley L, Lyons I, Harvey RP
Development (Cambridge, England). 1993 ; 119 (2) : 419-431.
PMID 7904557
 
BCL11B rearrangements probably target T-cell neoplasia rather than acute myelocytic leukemia.
MacLeod RA, Nagel S, Drexler HG
Cancer genetics and cytogenetics. 2004 ; 153 (1) : 88-89.
PMID 15325104
 
The cardiac homeobox gene NKX2-5 is deregulated by juxtaposition with BCL11B in pediatric T-ALL cell lines via a novel t(5;14)(q35.1;q32.2).
Nagel S, Kaufmann M, Drexler HG, MacLeod RA
Cancer research. 2003 ; 63 (17) : 5329-5334.
PMID 14500364
 
Embryonic origins of spleen asymmetry.
Patterson KD, Drysdale TA, Krieg PA
Development (Cambridge, England). 2000 ; 127 (1) : 167-175.
PMID 10654610
 
Novel NKX2-5 mutations in diseased heart tissues of patients with cardiac malformations.
Reamon-Buettner SM, Hecker H, Spanel-Borowski K, Craatz S, Kuenzel E, Borlak J
The American journal of pathology. 2004 ; 164 (6) : 2117-2125.
PMID 15161646
 
Building the heart piece by piece: modularity of cis-elements regulating Nkx2-5 transcription.
Schwartz RJ, Olson EN
Development (Cambridge, England). 1999 ; 126 (19) : 4187-4192.
PMID 10477287
 
Transcriptional activation of the cardiac homeobox gene CSX1/NKX2-5.
Su X, Busson M, Delabessee E, Azgui Z, Berger R, Beral HM, Bernard OA
Blood. 2004 ; 104 : page 152.
 
Vertebrate homologs of tinman and bagpipe: roles of the homeobox genes in cardiovascular development.
Tanaka M, Kasahara H, Bartunkova S, Schinke M, Komuro I, Inagaki H, Lee Y, Lyons GE, Izumo S
Developmental genetics. 1998 ; 22 (3) : 239-249.
PMID 9621431
 
Bcl11b is required for differentiation and survival of alphabeta T lymphocytes.
Wakabayashi Y, Watanabe H, Inoue J, Takeda N, Sakata J, Mishima Y, Hitomi J, Yamamoto T, Utsuyama M, Niwa O, Aizawa S, Kominami R
Nature immunology. 2003 ; 4 (6) : 533-539.
PMID 12717433
 
Two dual-color split signal fluorescence in situ hybridization assays to detect t(5;14) involving HOX11L2 or CSX in T-cell acute lymphoblastic leukemia.
van Zutven LJ, Velthuizen SC, Wolvers-Tettero IL, van Dongen JJ, Poulsen TS, MacLeod RA, Beverloo HB, Langerak AW
Haematologica. 2004 ; 89 (6) : 671-678.
PMID 15194534
 

Citation

This paper should be referenced as such :
MacLeod, RAF ; Nagel, S
NKX2-5 (NK2 transcription factor related, locus 5 (Drosophila).
Atlas Genet Cytogenet Oncol Haematol. 2005;9(2):137-140.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/NKX25ID42958ch5q35.html


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 3 ]
  t(5;14)(q35;q11) TRD/NKX2-5
t(5;14)(q35;q32.2) BCL11B/TLX3 and NKX2-5
T-lineage acute lymphoblastic leukemia (T-ALL)


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Heart: Cardiac Myxoma


External links

Nomenclature
HGNC (Hugo)NKX2-5   2488
LRG (Locus Reference Genomic)LRG_671
Cards
AtlasNKX25ID42958ch5q35
Entrez_Gene (NCBI)NKX2-5  1482  NK2 homeobox 5
AliasesCHNG5; CSX; CSX1; HLHS2; 
NKX2.5; NKX2E; NKX4-1; VSD3
GeneCards (Weizmann)NKX2-5
Ensembl hg19 (Hinxton)ENSG00000183072 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000183072 [Gene_View]  chr5:173232104-173235312 [Contig_View]  NKX2-5 [Vega]
ICGC DataPortalENSG00000183072
TCGA cBioPortalNKX2-5
AceView (NCBI)NKX2-5
Genatlas (Paris)NKX2-5
WikiGenes1482
SOURCE (Princeton)NKX2-5
Genetics Home Reference (NIH)NKX2-5
Genomic and cartography
GoldenPath hg38 (UCSC)NKX2-5  -     chr5:173232104-173235312 -  5q35.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NKX2-5  -     5q35.1   [Description]    (hg19-Feb_2009)
EnsemblNKX2-5 - 5q35.1 [CytoView hg19]  NKX2-5 - 5q35.1 [CytoView hg38]
Mapping of homologs : NCBINKX2-5 [Mapview hg19]  NKX2-5 [Mapview hg38]
OMIM108900   187500   217095   225250   600584   614432   614435   
Gene and transcription
Genbank (Entrez)AB021133 AI609745 AK290615 AK297844 AK307218
RefSeq transcript (Entrez)NM_001166175 NM_001166176 NM_004387
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)NKX2-5
Cluster EST : UnigeneHs.54473 [ NCBI ]
CGAP (NCI)Hs.54473
Alternative Splicing GalleryENSG00000183072
Gene ExpressionNKX2-5 [ NCBI-GEO ]   NKX2-5 [ EBI - ARRAY_EXPRESS ]   NKX2-5 [ SEEK ]   NKX2-5 [ MEM ]
Gene Expression Viewer (FireBrowse)NKX2-5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1482
GTEX Portal (Tissue expression)NKX2-5
Protein : pattern, domain, 3D structure
UniProt/SwissProtP52952   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP52952  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP52952
Splice isoforms : SwissVarP52952
PhosPhoSitePlusP52952
Domaine pattern : Prosite (Expaxy)HOMEOBOX_1 (PS00027)    HOMEOBOX_2 (PS50071)   
Domains : Interpro (EBI)Homeobox-like    Homeobox_CS    Homeobox_dom    Homeobox_metazoa    NKX-2.5   
Domain families : Pfam (Sanger)Homeobox (PF00046)   
Domain families : Pfam (NCBI)pfam00046   
Domain families : Smart (EMBL)HOX (SM00389)  
Conserved Domain (NCBI)NKX2-5
DMDM Disease mutations1482
Blocks (Seattle)NKX2-5
PDB (SRS)3RKQ    4S0H   
PDB (PDBSum)3RKQ    4S0H   
PDB (IMB)3RKQ    4S0H   
PDB (RSDB)3RKQ    4S0H   
Structural Biology KnowledgeBase3RKQ    4S0H   
SCOP (Structural Classification of Proteins)3RKQ    4S0H   
CATH (Classification of proteins structures)3RKQ    4S0H   
SuperfamilyP52952
Human Protein AtlasENSG00000183072
Peptide AtlasP52952
HPRD02787
IPIIPI00006055   IPI00947081   IPI00909922   IPI00984124   
Protein Interaction databases
DIP (DOE-UCLA)P52952
IntAct (EBI)P52952
FunCoupENSG00000183072
BioGRIDNKX2-5
STRING (EMBL)NKX2-5
ZODIACNKX2-5
Ontologies - Pathways
QuickGOP52952
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  negative regulation of transcription from RNA polymerase II promoter  RNA polymerase II core promoter proximal region sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  RNA polymerase II transcription cofactor activity  transcriptional activator activity, RNA polymerase II transcription factor binding  transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding  vasculogenesis  heart looping  heart morphogenesis  outflow tract septum morphogenesis  cardiac conduction system development  bundle of His development  Purkinje myocyte differentiation  cardiac ventricle formation  right ventricular cardiac muscle tissue morphogenesis  ventricular trabecula myocardium morphogenesis  apoptotic process involved in heart morphogenesis  septum secundum development  proepicardium development  pulmonary myocardium development  DNA binding  chromatin binding  transcription factor activity, sequence-specific DNA binding  transcription factor activity, sequence-specific DNA binding  transcription factor activity, sequence-specific DNA binding  transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding  protein binding  nucleus  transcription factor complex  cytoplasm  transcription from RNA polymerase II promoter  adult heart development  transcription factor binding  positive regulation of cell proliferation  negative regulation of cardiac muscle cell apoptotic process  positive regulation of transcription via serum response element binding  serum response element binding  positive regulation of sodium ion transport  negative regulation of myotube differentiation  hemopoiesis  cell differentiation  BMP signaling pathway  thyroid gland development  embryonic heart tube development  protein homodimerization activity  negative regulation of apoptotic process  sequence-specific DNA binding  transcription regulatory region DNA binding  sarcomere organization  positive regulation of neuron differentiation  positive regulation of heart contraction  negative regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  protein heterodimerization activity  spleen development  spleen development  positive regulation of cardioblast differentiation  ventricular cardiac myofibril assembly  cardiac muscle cell differentiation  cardiac muscle tissue morphogenesis  atrial cardiac muscle cell development  ventricular cardiac muscle cell development  regulation of cardiac muscle contraction  pharyngeal system development  cardiac muscle cell proliferation  regulation of cardiac muscle cell proliferation  cardiac muscle contraction  canonical Wnt signaling pathway  positive regulation of transcription initiation from RNA polymerase II promoter  heart trabecula formation  ventricular septum morphogenesis  atrial septum morphogenesis  atrioventricular node cell development  atrioventricular node cell fate commitment  embryonic heart tube left/right pattern formation  negative regulation of canonical Wnt signaling pathway  RNA polymerase II transcription factor complex  regulation of cardiac conduction  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  negative regulation of transcription from RNA polymerase II promoter  RNA polymerase II core promoter proximal region sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  RNA polymerase II transcription cofactor activity  transcriptional activator activity, RNA polymerase II transcription factor binding  transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding  vasculogenesis  heart looping  heart morphogenesis  outflow tract septum morphogenesis  cardiac conduction system development  bundle of His development  Purkinje myocyte differentiation  cardiac ventricle formation  right ventricular cardiac muscle tissue morphogenesis  ventricular trabecula myocardium morphogenesis  apoptotic process involved in heart morphogenesis  septum secundum development  proepicardium development  pulmonary myocardium development  DNA binding  chromatin binding  transcription factor activity, sequence-specific DNA binding  transcription factor activity, sequence-specific DNA binding  transcription factor activity, sequence-specific DNA binding  transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding  protein binding  nucleus  transcription factor complex  cytoplasm  transcription from RNA polymerase II promoter  adult heart development  transcription factor binding  positive regulation of cell proliferation  negative regulation of cardiac muscle cell apoptotic process  positive regulation of transcription via serum response element binding  serum response element binding  positive regulation of sodium ion transport  negative regulation of myotube differentiation  hemopoiesis  cell differentiation  BMP signaling pathway  thyroid gland development  embryonic heart tube development  protein homodimerization activity  negative regulation of apoptotic process  sequence-specific DNA binding  transcription regulatory region DNA binding  sarcomere organization  positive regulation of neuron differentiation  positive regulation of heart contraction  negative regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  protein heterodimerization activity  spleen development  spleen development  positive regulation of cardioblast differentiation  ventricular cardiac myofibril assembly  cardiac muscle cell differentiation  cardiac muscle tissue morphogenesis  atrial cardiac muscle cell development  ventricular cardiac muscle cell development  regulation of cardiac muscle contraction  pharyngeal system development  cardiac muscle cell proliferation  regulation of cardiac muscle cell proliferation  cardiac muscle contraction  canonical Wnt signaling pathway  positive regulation of transcription initiation from RNA polymerase II promoter  heart trabecula formation  ventricular septum morphogenesis  atrial septum morphogenesis  atrioventricular node cell development  atrioventricular node cell fate commitment  embryonic heart tube left/right pattern formation  negative regulation of canonical Wnt signaling pathway  RNA polymerase II transcription factor complex  regulation of cardiac conduction  
Pathways : BIOCARTANFAT and Hypertrophy of the heart (Transcription in the broken heart) [Genes]    Hop Pathway in Cardiac Development [Genes]    ALK in cardiac myocytes [Genes]   
REACTOMEP52952 [protein]
REACTOME PathwaysR-HSA-5578768 [pathway]   
NDEx NetworkNKX2-5
Atlas of Cancer Signalling NetworkNKX2-5
Wikipedia pathwaysNKX2-5
Orthology - Evolution
OrthoDB1482
GeneTree (enSembl)ENSG00000183072
Phylogenetic Trees/Animal Genes : TreeFamNKX2-5
HOVERGENP52952
HOGENOMP52952
Homologs : HomoloGeneNKX2-5
Homology/Alignments : Family Browser (UCSC)NKX2-5
Gene fusions - Rearrangements
Fusion : MitelmanBCL11B/NKX2-5 [14q32.2/5q35.1]  [t(5;14)(q35;q32)]  
Fusion : MitelmanTRD/NKX2-5 [-/5q35.1]  [t(5;14)(q35;q11)]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNKX2-5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NKX2-5
dbVarNKX2-5
ClinVarNKX2-5
1000_GenomesNKX2-5 
Exome Variant ServerNKX2-5
ExAC (Exome Aggregation Consortium)NKX2-5 (select the gene name)
Genetic variants : HAPMAP1482
Genomic Variants (DGV)NKX2-5 [DGVbeta]
DECIPHERNKX2-5 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNKX2-5 
Mutations
ICGC Data PortalNKX2-5 
TCGA Data PortalNKX2-5 
Broad Tumor PortalNKX2-5
OASIS PortalNKX2-5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNKX2-5  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNKX2-5
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch NKX2-5
DgiDB (Drug Gene Interaction Database)NKX2-5
DoCM (Curated mutations)NKX2-5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NKX2-5 (select a term)
intoGenNKX2-5
NCG5 (London)NKX2-5
Cancer3DNKX2-5(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM108900    187500    217095    225250    600584    614432    614435   
Orphanet511    820    965    1121    2826    8592    12668    12667    14120    14114    14855   
MedgenNKX2-5
Genetic Testing Registry NKX2-5
NextProtP52952 [Medical]
TSGene1482
GENETestsNKX2-5
Target ValidationNKX2-5
Huge Navigator NKX2-5 [HugePedia]
snp3D : Map Gene to Disease1482
BioCentury BCIQNKX2-5
ClinGenNKX2-5 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1482
Chemical/Pharm GKB GenePA24202
Clinical trialNKX2-5
Miscellaneous
canSAR (ICR)NKX2-5 (select the gene name)
Probes
Litterature
PubMed164 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNKX2-5
EVEXNKX2-5
GoPubMedNKX2-5
iHOPNKX2-5
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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