Atlas of Genetics and Cytogenetics in Oncology and Haematology

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DFNB59 (deafness, autosomal recessive 59)

Identity

Other namesPJVK
HGNC (Hugo) DFNB59
LocusID (NCBI) 494513
Location 2q31.2
Location_base_pair Starts at 179316163 and ends at 179326110 bp from pter ( according to hg19-Feb_2009)
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)DFNB59   29502
Entrez_Gene (NCBI)DFNB59  494513  deafness, autosomal recessive 59
Cards
GeneCards (Weizmann)DFNB59
Ensembl (Hinxton)ENSG00000204311 [Gene_View]  chr2:179316163-179326110 [Contig_View]  DFNB59 [Vega]
AceView (NCBI)DFNB59
Genatlas (Paris)DFNB59
SOURCE (Stanford)NM_001042702
Genomic and cartography
GoldenPath (UCSC)DFNB59  -  2q31.2   chr2:179316163-179326110 +  2q31.2   [Description]    (hg19-Feb_2009)
EnsemblDFNB59 - 2q31.2 [CytoView]
Mapping of homologs : NCBIDFNB59 [Mapview]
OMIM610219   610220   
Gene and transcription
Genbank (Entrez)AW006294 BC020859 BC127902 BC127903 BC146938
RefSeq transcript (SRS)NM_001042702
RefSeq transcript (Entrez)NM_001042702
RefSeq genomic (SRS)AC_000134 NC_000002 NC_018913 NG_012186 NT_005403 NW_001838863 NW_004078008
RefSeq genomic (Entrez)AC_000134 NC_000002 NC_018913 NG_012186 NT_005403 NW_001838863 NW_004078008
Consensus coding sequences : CCDS (NCBI)DFNB59
Cluster EST : UnigeneHs.87734 [ SRS ] Hs.87734 [ NCBI ]
CGAP (NCI)Hs.87734
Alternative Splicing : Fast-db (Paris)GSHG0017025
Alternative Splicing GalleryENSG00000204311
Gene ExpressionDFNB59 [ NCBI-GEO ]   DFNB59 [ EBI - ARRAY_EXPRESS ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ0ZLH3 (SRS) Q0ZLH3 (Uniprot)
NextProtQ0ZLH3
With graphics : InterProQ0ZLH3
Splice isoforms : SwissVarQ0ZLH3(Swissvar)
Domains : Interpro (SRS)Gasdermin   
Domains : Interpro (EBI)Gasdermin   
Related proteins : CluSTrQ0ZLH3
Domain families : Pfam (SRS)Gasdermin (PF04598)   
Domain families : Pfam (Sanger)Gasdermin (PF04598)   
Domain families : Pfam (NCBI)pfam04598   
DMDM494513
Blocks (Seattle)Q0ZLH3
Human Protein AtlasENSG00000204311
IPIIPI00746516   IPI00917351   IPI00917692   
Protein Interaction databases
DIP (DOE-UCLA)Q0ZLH3
IntAct (EBI)Q0ZLH3
FunCoupENSG00000204311
REACTOMEDFNB59
Protein Interaction Database494513
BioGRIDDFNB59
InParanoidQ0ZLH3
Interologous Interaction database Q0ZLH3
IntegromeDBDFNB59
Polymorphism : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)DFNB59
SNP (GeneSNP Utah)DFNB59
SNP : HGBaseDFNB59
Genetic variants : HAPMAPDFNB59
Somatic Mutations in Cancer : COSMICDFNB59 
CONAN: Copy Number AnalysisDFNB59 
Mutations and Diseases : HGMDDFNB59
OMIM610219    610220   
GENETests610219    610220   
Disease Genetic AssociationDFNB59
Huge Navigator DFNB59 [HugePedia]  DFNB59 [HugeCancerGEM]
Genomic VariantsDFNB59  DFNB59 [DGVbeta]
snp3D : Map Gene to Disease494513
General knowledge
Homologs : HomoloGeneDFNB59
Homology/Alignments : Family Browser (UCSC)DFNB59
Phylogenetic Trees/Animal Genes : TreeFamDFNB59
Chemical/Protein Interactions : CTD494513
Chemical/Pharm GKB GenePA134927047
Clinical trialDFNB59
Cancer Resource (Charite)ENSG00000204311
Ontology : AmiGOsensory perception of sound  neuronal cell body  
Ontology : EGO-EBIsensory perception of sound  neuronal cell body  
Other databases
Probes
Litterature
PubMed13 Pubmed reference(s) in Entrez
PubGeneDFNB59
iHOPDFNB59
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated01-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed May 1 12:43:57 CEST 2013
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