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DMBX1 (diencephalon/mesencephalon homeobox 1)

Identity

Alias (NCBI)MBX
OTX3
PAXB
HGNC (Hugo) DMBX1
HGNC Alias symbPAXB
HGNC Previous nameOTX3
HGNC Previous nameorthodenticle homolog 3 (Drosophila)
LocusID (NCBI) 127343
Atlas_Id 62531
Location 1p33  [Link to chromosome band 1p33]
Location_base_pair Starts at 46489836 and ends at 46516216 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)DMBX1   19026
Cards
Entrez_Gene (NCBI)DMBX1    diencephalon/mesencephalon homeobox 1
AliasesMBX; OTX3; PAXB
GeneCards (Weizmann)DMBX1
Ensembl hg19 (Hinxton)ENSG00000197587 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000197587 [Gene_View]  ENSG00000197587 [Sequence]  chr1:46489836-46516216 [Contig_View]  DMBX1 [Vega]
ICGC DataPortalENSG00000197587
TCGA cBioPortalDMBX1
AceView (NCBI)DMBX1
Genatlas (Paris)DMBX1
SOURCE (Princeton)DMBX1
Genetics Home Reference (NIH)DMBX1
Genomic and cartography
GoldenPath hg38 (UCSC)DMBX1  -     chr1:46489836-46516216 +  1p33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DMBX1  -     1p33   [Description]    (hg19-Feb_2009)
GoldenPathDMBX1 - 1p33 [CytoView hg19]  DMBX1 - 1p33 [CytoView hg38]
ImmunoBaseENSG00000197587
Genome Data Viewer NCBIDMBX1 [Mapview hg19]  
OMIM607410   
Gene and transcription
Genbank (Entrez)AB037699 AF398527 AF398528 AY726596
RefSeq transcript (Entrez)NM_001387775 NM_001387776 NM_147192 NM_172225
Consensus coding sequences : CCDS (NCBI)DMBX1
Gene ExpressionDMBX1 [ NCBI-GEO ]   DMBX1 [ EBI - ARRAY_EXPRESS ]   DMBX1 [ SEEK ]   DMBX1 [ MEM ]
Gene Expression Viewer (FireBrowse)DMBX1 [ Firebrowse - Broad ]
GenevisibleExpression of DMBX1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)127343
GTEX Portal (Tissue expression)DMBX1
Human Protein AtlasENSG00000197587-DMBX1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8NFW5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8NFW5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8NFW5
PhosPhoSitePlusQ8NFW5
Domaine pattern : Prosite (Expaxy)HOMEOBOX_1 (PS00027)    HOMEOBOX_2 (PS50071)    OAR (PS50803)   
Domains : Interpro (EBI)Homeobox-like_sf    Homeobox_CS    Homeobox_dom    OAR_dom   
Domain families : Pfam (Sanger)Homeodomain (PF00046)    OAR (PF03826)   
Domain families : Pfam (NCBI)pfam00046    pfam03826   
Domain families : Smart (EMBL)HOX (SM00389)  
Conserved Domain (NCBI)DMBX1
SuperfamilyQ8NFW5
AlphaFold pdb e-kbQ8NFW5   
Human Protein Atlas [tissue]ENSG00000197587-DMBX1 [tissue]
HPRD07593
Protein Interaction databases
DIP (DOE-UCLA)Q8NFW5
IntAct (EBI)Q8NFW5
BioGRIDDMBX1
STRING (EMBL)DMBX1
ZODIACDMBX1
Ontologies - Pathways
QuickGOQ8NFW5
Ontology : AmiGOnegative regulation of transcription by RNA polymerase II  chromatin  RNA polymerase II transcription regulatory region 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  DNA binding  DNA-binding transcription factor activity  nucleus  transcription regulator complex  regulation of transcription by RNA polymerase II  central nervous system development  brain development  adult feeding behavior  adult locomotory behavior  identical protein binding  sequence-specific DNA binding  negative regulation of transcription, DNA-templated  developmental growth  sequence-specific double-stranded DNA binding  
Ontology : EGO-EBInegative regulation of transcription by RNA polymerase II  chromatin  RNA polymerase II transcription regulatory region 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  DNA binding  DNA-binding transcription factor activity  nucleus  transcription regulator complex  regulation of transcription by RNA polymerase II  central nervous system development  brain development  adult feeding behavior  adult locomotory behavior  identical protein binding  sequence-specific DNA binding  negative regulation of transcription, DNA-templated  developmental growth  sequence-specific double-stranded DNA binding  
NDEx NetworkDMBX1
Atlas of Cancer Signalling NetworkDMBX1
Wikipedia pathwaysDMBX1
Orthology - Evolution
OrthoDB127343
GeneTree (enSembl)ENSG00000197587
Phylogenetic Trees/Animal Genes : TreeFamDMBX1
Homologs : HomoloGeneDMBX1
Homology/Alignments : Family Browser (UCSC)DMBX1
Gene fusions - Rearrangements
Fusion : QuiverDMBX1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDMBX1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DMBX1
dbVarDMBX1
ClinVarDMBX1
MonarchDMBX1
1000_GenomesDMBX1 
Exome Variant ServerDMBX1
GNOMAD BrowserENSG00000197587
Varsome BrowserDMBX1
ACMGDMBX1 variants
VarityQ8NFW5
Genomic Variants (DGV)DMBX1 [DGVbeta]
DECIPHERDMBX1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDMBX1 
Mutations
ICGC Data PortalDMBX1 
TCGA Data PortalDMBX1 
Broad Tumor PortalDMBX1
OASIS PortalDMBX1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDMBX1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DDMBX1
Mutations and Diseases : HGMDDMBX1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaDMBX1
DgiDB (Drug Gene Interaction Database)DMBX1
DoCM (Curated mutations)DMBX1
CIViC (Clinical Interpretations of Variants in Cancer)DMBX1
Cancer3DDMBX1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607410   
Orphanet
DisGeNETDMBX1
MedgenDMBX1
Genetic Testing Registry DMBX1
NextProtQ8NFW5 [Medical]
GENETestsDMBX1
Target ValidationDMBX1
Huge Navigator DMBX1 [HugePedia]
ClinGenDMBX1
Clinical trials, drugs, therapy
MyCancerGenomeDMBX1
Protein Interactions : CTDDMBX1
Pharm GKB GenePA38780
PharosQ8NFW5
Clinical trialDMBX1
Miscellaneous
canSAR (ICR)DMBX1
HarmonizomeDMBX1
DataMed IndexDMBX1
Probes
Litterature
PubMed13 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXDMBX1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:48:04 CEST 2021

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