Atlas of Genetics and Cytogenetics in Oncology and Haematology

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HMX2 (H6 family homeobox 2)

Identity

Alias_nameshomeo box (H6 family) 2
Alias_symbol (synonym)NKX5-2
Other aliasH6L
Nkx5-2
HGNC (Hugo) HMX2
LocusID (NCBI) 3167
Atlas_Id 56191
Location 10q26.13  [Link to chromosome band 10q26]
Location_base_pair Starts at 123148122 and ends at 123150672 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)HMX2   5018
Cards
Entrez_Gene (NCBI)HMX2  3167  H6 family homeobox 2
AliasesH6L; Nkx5-2
GeneCards (Weizmann)HMX2
Ensembl hg19 (Hinxton)ENSG00000188816 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000188816 [Gene_View]  ENSG00000188816 [Sequence]  chr10:123148122-123150672 [Contig_View]  HMX2 [Vega]
ICGC DataPortalENSG00000188816
TCGA cBioPortalHMX2
AceView (NCBI)HMX2
Genatlas (Paris)HMX2
WikiGenes3167
SOURCE (Princeton)HMX2
Genetics Home Reference (NIH)HMX2
Genomic and cartography
GoldenPath hg38 (UCSC)HMX2  -     chr10:123148122-123150672 +  10q26.13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HMX2  -     10q26.13   [Description]    (hg19-Feb_2009)
GoldenPathHMX2 - 10q26.13 [CytoView hg19]  HMX2 - 10q26.13 [CytoView hg38]
ImmunoBaseENSG00000188816
Mapping of homologs : NCBIHMX2 [Mapview hg19]  HMX2 [Mapview hg38]
OMIM600647   
Gene and transcription
Genbank (Entrez)BC132758 BC137139 BQ929484
RefSeq transcript (Entrez)NM_005519
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)HMX2
Cluster EST : UnigeneHs.444756 [ NCBI ]
CGAP (NCI)Hs.444756
Alternative Splicing GalleryENSG00000188816
Gene ExpressionHMX2 [ NCBI-GEO ]   HMX2 [ EBI - ARRAY_EXPRESS ]   HMX2 [ SEEK ]   HMX2 [ MEM ]
Gene Expression Viewer (FireBrowse)HMX2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3167
GTEX Portal (Tissue expression)HMX2
Human Protein AtlasENSG00000188816-HMX2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtA2RU54   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtA2RU54  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProA2RU54
Splice isoforms : SwissVarA2RU54
PhosPhoSitePlusA2RU54
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)HMX2
DMDM Disease mutations3167
Blocks (Seattle)HMX2
SuperfamilyA2RU54
Human Protein Atlas [tissue]ENSG00000188816-HMX2 [tissue]
Peptide AtlasA2RU54
HPRD18780
IPIIPI00398900   
Protein Interaction databases
DIP (DOE-UCLA)A2RU54
IntAct (EBI)A2RU54
FunCoupENSG00000188816
BioGRIDHMX2
STRING (EMBL)HMX2
ZODIACHMX2
Ontologies - Pathways
QuickGOA2RU54
Ontology : AmiGODNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  nucleus  regulation of transcription by RNA polymerase II  brain development  positive regulation of cell proliferation  cell differentiation  inner ear morphogenesis  sequence-specific DNA binding  positive regulation of mRNA splicing, via spliceosome  
Ontology : EGO-EBIDNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  nucleus  regulation of transcription by RNA polymerase II  brain development  positive regulation of cell proliferation  cell differentiation  inner ear morphogenesis  sequence-specific DNA binding  positive regulation of mRNA splicing, via spliceosome  
NDEx NetworkHMX2
Atlas of Cancer Signalling NetworkHMX2
Wikipedia pathwaysHMX2
Orthology - Evolution
OrthoDB3167
GeneTree (enSembl)ENSG00000188816
Phylogenetic Trees/Animal Genes : TreeFamHMX2
HOGENOMA2RU54
Homologs : HomoloGeneHMX2
Homology/Alignments : Family Browser (UCSC)HMX2
Gene fusions - Rearrangements
Fusion : QuiverHMX2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHMX2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HMX2
dbVarHMX2
ClinVarHMX2
1000_GenomesHMX2 
Exome Variant ServerHMX2
ExAC (Exome Aggregation Consortium)ENSG00000188816
GNOMAD BrowserENSG00000188816
Varsome BrowserHMX2
Genetic variants : HAPMAP3167
Genomic Variants (DGV)HMX2 [DGVbeta]
DECIPHERHMX2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisHMX2 
Mutations
ICGC Data PortalHMX2 
TCGA Data PortalHMX2 
Broad Tumor PortalHMX2
OASIS PortalHMX2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHMX2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DHMX2
Mutations and Diseases : HGMDHMX2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch HMX2
DgiDB (Drug Gene Interaction Database)HMX2
DoCM (Curated mutations)HMX2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HMX2 (select a term)
intoGenHMX2
Cancer3DHMX2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600647   
Orphanet
DisGeNETHMX2
MedgenHMX2
Genetic Testing Registry HMX2
NextProtA2RU54 [Medical]
TSGene3167
GENETestsHMX2
Target ValidationHMX2
Huge Navigator HMX2 [HugePedia]
snp3D : Map Gene to Disease3167
BioCentury BCIQHMX2
ClinGenHMX2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3167
Chemical/Pharm GKB GenePA29345
Clinical trialHMX2
Miscellaneous
canSAR (ICR)HMX2 (select the gene name)
DataMed IndexHMX2
Probes
Litterature
PubMed7 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHMX2
EVEXHMX2
GoPubMedHMX2
iHOPHMX2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Jan 27 14:45:54 CET 2020
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