Atlas of Genetics and Cytogenetics in Oncology and Haematology


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NKX3-2 (NK3 homeobox 2)

Identity

Other aliasBAPX1
NKX3.2
NKX3B
SMMD
HGNC (Hugo) NKX3-2
LocusID (NCBI) 579
Atlas_Id 57013
Location 4p15.33  [Link to chromosome band 4p15]
Location_base_pair Starts at 13540830 and ends at 13544490 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)NKX3-2   951
Cards
Entrez_Gene (NCBI)NKX3-2  579  NK3 homeobox 2
AliasesBAPX1; NKX3.2; NKX3B; SMMD
GeneCards (Weizmann)NKX3-2
Ensembl hg19 (Hinxton)ENSG00000109705 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000109705 [Gene_View]  ENSG00000109705 [Sequence]  chr4:13540830-13544490 [Contig_View]  NKX3-2 [Vega]
ICGC DataPortalENSG00000109705
TCGA cBioPortalNKX3-2
AceView (NCBI)NKX3-2
Genatlas (Paris)NKX3-2
WikiGenes579
SOURCE (Princeton)NKX3-2
Genetics Home Reference (NIH)NKX3-2
Genomic and cartography
GoldenPath hg38 (UCSC)NKX3-2  -     chr4:13540830-13544490 -  4p15.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NKX3-2  -     4p15.33   [Description]    (hg19-Feb_2009)
GoldenPathNKX3-2 - 4p15.33 [CytoView hg19]  NKX3-2 - 4p15.33 [CytoView hg38]
ImmunoBaseENSG00000109705
Mapping of homologs : NCBINKX3-2 [Mapview hg19]  NKX3-2 [Mapview hg38]
OMIM602183   613330   
Gene and transcription
Genbank (Entrez)AF009801 BC111966
RefSeq transcript (Entrez)NM_001189
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)NKX3-2
Cluster EST : UnigeneHs.590927 [ NCBI ]
CGAP (NCI)Hs.590927
Alternative Splicing GalleryENSG00000109705
Gene ExpressionNKX3-2 [ NCBI-GEO ]   NKX3-2 [ EBI - ARRAY_EXPRESS ]   NKX3-2 [ SEEK ]   NKX3-2 [ MEM ]
Gene Expression Viewer (FireBrowse)NKX3-2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)579
GTEX Portal (Tissue expression)NKX3-2
Human Protein AtlasENSG00000109705-NKX3-2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP78367   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP78367  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP78367
Splice isoforms : SwissVarP78367
PhosPhoSitePlusP78367
Domaine pattern : Prosite (Expaxy)HOMEOBOX_1 (PS00027)    HOMEOBOX_2 (PS50071)   
Domains : Interpro (EBI)Homeobox-like_sf    Homeobox_CS    Homeobox_dom    Homeobox_metazoa   
Domain families : Pfam (Sanger)Homeobox (PF00046)   
Domain families : Pfam (NCBI)pfam00046   
Domain families : Smart (EMBL)HOX (SM00389)  
Conserved Domain (NCBI)NKX3-2
DMDM Disease mutations579
Blocks (Seattle)NKX3-2
SuperfamilyP78367
Human Protein Atlas [tissue]ENSG00000109705-NKX3-2 [tissue]
Peptide AtlasP78367
IPIIPI00019228   
Protein Interaction databases
DIP (DOE-UCLA)P78367
IntAct (EBI)P78367
FunCoupENSG00000109705
BioGRIDNKX3-2
STRING (EMBL)NKX3-2
ZODIACNKX3-2
Ontologies - Pathways
QuickGOP78367
Ontology : AmiGOnegative regulation of transcription by RNA polymerase II  RNA polymerase II proximal promoter sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription repressor activity, RNA polymerase II-specific  skeletal system development  DNA-binding transcription factor activity  nucleus  transcription by RNA polymerase II  determination of left/right symmetry  cell differentiation  pancreas development  negative regulation of chondrocyte differentiation  middle ear morphogenesis  negative regulation of apoptotic process  sequence-specific DNA binding  positive regulation of transcription by RNA polymerase II  spleen development  animal organ formation  skeletal system morphogenesis  embryonic skeletal system development  intestinal epithelial cell development  
Ontology : EGO-EBInegative regulation of transcription by RNA polymerase II  RNA polymerase II proximal promoter sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription repressor activity, RNA polymerase II-specific  skeletal system development  DNA-binding transcription factor activity  nucleus  transcription by RNA polymerase II  determination of left/right symmetry  cell differentiation  pancreas development  negative regulation of chondrocyte differentiation  middle ear morphogenesis  negative regulation of apoptotic process  sequence-specific DNA binding  positive regulation of transcription by RNA polymerase II  spleen development  animal organ formation  skeletal system morphogenesis  embryonic skeletal system development  intestinal epithelial cell development  
NDEx NetworkNKX3-2
Atlas of Cancer Signalling NetworkNKX3-2
Wikipedia pathwaysNKX3-2
Orthology - Evolution
OrthoDB579
GeneTree (enSembl)ENSG00000109705
Phylogenetic Trees/Animal Genes : TreeFamNKX3-2
HOGENOMP78367
Homologs : HomoloGeneNKX3-2
Homology/Alignments : Family Browser (UCSC)NKX3-2
Gene fusions - Rearrangements
Fusion : QuiverNKX3-2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNKX3-2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NKX3-2
dbVarNKX3-2
ClinVarNKX3-2
1000_GenomesNKX3-2 
Exome Variant ServerNKX3-2
ExAC (Exome Aggregation Consortium)ENSG00000109705
GNOMAD BrowserENSG00000109705
Varsome BrowserNKX3-2
Genetic variants : HAPMAP579
Genomic Variants (DGV)NKX3-2 [DGVbeta]
DECIPHERNKX3-2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNKX3-2 
Mutations
ICGC Data PortalNKX3-2 
TCGA Data PortalNKX3-2 
Broad Tumor PortalNKX3-2
OASIS PortalNKX3-2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNKX3-2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DNKX3-2
Mutations and Diseases : HGMDNKX3-2
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 NKX3-2
DgiDB (Drug Gene Interaction Database)NKX3-2
DoCM (Curated mutations)NKX3-2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NKX3-2 (select a term)
intoGenNKX3-2
Cancer3DNKX3-2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602183    613330   
Orphanet
DisGeNETNKX3-2
MedgenNKX3-2
Genetic Testing Registry NKX3-2
NextProtP78367 [Medical]
TSGene579
GENETestsNKX3-2
Target ValidationNKX3-2
Huge Navigator NKX3-2 [HugePedia]
snp3D : Map Gene to Disease579
BioCentury BCIQNKX3-2
ClinGenNKX3-2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD579
Chemical/Pharm GKB GenePA162397617
Clinical trialNKX3-2
Miscellaneous
canSAR (ICR)NKX3-2 (select the gene name)
DataMed IndexNKX3-2
Probes
Litterature
PubMed20 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNKX3-2
EVEXNKX3-2
GoPubMedNKX3-2
iHOPNKX3-2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Mon Aug 12 15:47:09 CEST 2019

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