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KHDRBS2 (KH RNA binding domain containing, signal transduction associated 2)

Identity

Alias_symbol (synonym)SLM1
SLM-1
MGC26664
Other alias
HGNC (Hugo) KHDRBS2
LocusID (NCBI) 202559
Atlas_Id 46817
Location 6q11.1  [Link to chromosome band 6q11]
Location_base_pair Starts at 61679960 and ends at 62286227 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)
EFL1 (15q25.2) / KHDRBS2 (6q11.1)KHDRBS2 (6q11.1) / LMBRD1 (6q13)EFTUD1 15q25.2 / KHDRBS2 6q11.1
KHDRBS2 6q11.1 / LMBRD1 6q13

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(6;6)(q11;q13) KHDRBS2/LMBRD1


External links

Nomenclature
HGNC (Hugo)KHDRBS2   18114
Cards
Entrez_Gene (NCBI)KHDRBS2  202559  KH RNA binding domain containing, signal transduction associated 2
AliasesSLM-1; SLM1
GeneCards (Weizmann)KHDRBS2
Ensembl hg19 (Hinxton)ENSG00000112232 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000112232 [Gene_View]  ENSG00000112232 [Sequence]  chr6:61679960-62286227 [Contig_View]  KHDRBS2 [Vega]
ICGC DataPortalENSG00000112232
TCGA cBioPortalKHDRBS2
AceView (NCBI)KHDRBS2
Genatlas (Paris)KHDRBS2
WikiGenes202559
SOURCE (Princeton)KHDRBS2
Genetics Home Reference (NIH)KHDRBS2
Genomic and cartography
GoldenPath hg38 (UCSC)KHDRBS2  -     chr6:61679960-62286227 -  6q11.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KHDRBS2  -     6q11.1   [Description]    (hg19-Feb_2009)
EnsemblKHDRBS2 - 6q11.1 [CytoView hg19]  KHDRBS2 - 6q11.1 [CytoView hg38]
Mapping of homologs : NCBIKHDRBS2 [Mapview hg19]  KHDRBS2 [Mapview hg38]
OMIM610487   
Gene and transcription
Genbank (Entrez)AK095983 AK292043 AY077838 BC034043 BI597067
RefSeq transcript (Entrez)NM_001350622 NM_152688
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)KHDRBS2
Cluster EST : UnigeneHs.519794 [ NCBI ]
CGAP (NCI)Hs.519794
Alternative Splicing GalleryENSG00000112232
Gene ExpressionKHDRBS2 [ NCBI-GEO ]   KHDRBS2 [ EBI - ARRAY_EXPRESS ]   KHDRBS2 [ SEEK ]   KHDRBS2 [ MEM ]
Gene Expression Viewer (FireBrowse)KHDRBS2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)202559
GTEX Portal (Tissue expression)KHDRBS2
Human Protein AtlasENSG00000112232-KHDRBS2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5VWX1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ5VWX1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ5VWX1
Splice isoforms : SwissVarQ5VWX1
PhosPhoSitePlusQ5VWX1
Domaine pattern : Prosite (Expaxy)KH_TYPE_1 (PS50084)   
Domains : Interpro (EBI)KH_dom    KH_dom_type_1    KH_dom_type_1_sf    Qua1_dom    Sam68-YY   
Domain families : Pfam (Sanger)KH_1 (PF00013)    Qua1 (PF16274)    Sam68-YY (PF16568)   
Domain families : Pfam (NCBI)pfam00013    pfam16274    pfam16568   
Domain families : Smart (EMBL)KH (SM00322)  
Conserved Domain (NCBI)KHDRBS2
DMDM Disease mutations202559
Blocks (Seattle)KHDRBS2
SuperfamilyQ5VWX1
Human Protein Atlas [tissue]ENSG00000112232-KHDRBS2 [tissue]
Peptide AtlasQ5VWX1
HPRD13775
IPIIPI00166708   IPI00903310   
Protein Interaction databases
DIP (DOE-UCLA)Q5VWX1
IntAct (EBI)Q5VWX1
FunCoupENSG00000112232
BioGRIDKHDRBS2
STRING (EMBL)KHDRBS2
ZODIACKHDRBS2
Ontologies - Pathways
QuickGOQ5VWX1
Ontology : AmiGOprotein binding  nucleoplasm  mRNA processing  poly(A) binding  poly(U) RNA binding  SH3 domain binding  SH2 domain binding  identical protein binding  protein heterodimerization activity  regulation of mRNA splicing, via spliceosome  
Ontology : EGO-EBIprotein binding  nucleoplasm  mRNA processing  poly(A) binding  poly(U) RNA binding  SH3 domain binding  SH2 domain binding  identical protein binding  protein heterodimerization activity  regulation of mRNA splicing, via spliceosome  
NDEx NetworkKHDRBS2
Atlas of Cancer Signalling NetworkKHDRBS2
Wikipedia pathwaysKHDRBS2
Orthology - Evolution
OrthoDB202559
GeneTree (enSembl)ENSG00000112232
Phylogenetic Trees/Animal Genes : TreeFamKHDRBS2
HOVERGENQ5VWX1
HOGENOMQ5VWX1
Homologs : HomoloGeneKHDRBS2
Homology/Alignments : Family Browser (UCSC)KHDRBS2
Gene fusions - Rearrangements
Fusion : MitelmanEFTUD1/KHDRBS2 [15q25.2/6q11.1]  [t(6;15)(q11;q25)]  
Fusion : MitelmanKHDRBS2/LMBRD1 [6q11.1/6q13]  [t(6;6)(q11;q13)]  
Fusion PortalEFTUD1 15q25.2 KHDRBS2 6q11.1 LUSC
Fusion PortalKHDRBS2 6q11.1 LMBRD1 6q13 LUAD
Fusion : QuiverKHDRBS2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKHDRBS2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KHDRBS2
dbVarKHDRBS2
ClinVarKHDRBS2
1000_GenomesKHDRBS2 
Exome Variant ServerKHDRBS2
ExAC (Exome Aggregation Consortium)ENSG00000112232
GNOMAD BrowserENSG00000112232
Varsome BrowserKHDRBS2
Genetic variants : HAPMAP202559
Genomic Variants (DGV)KHDRBS2 [DGVbeta]
DECIPHERKHDRBS2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKHDRBS2 
Mutations
ICGC Data PortalKHDRBS2 
TCGA Data PortalKHDRBS2 
Broad Tumor PortalKHDRBS2
OASIS PortalKHDRBS2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKHDRBS2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKHDRBS2
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 KHDRBS2
DgiDB (Drug Gene Interaction Database)KHDRBS2
DoCM (Curated mutations)KHDRBS2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KHDRBS2 (select a term)
intoGenKHDRBS2
Cancer3DKHDRBS2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610487   
Orphanet
DisGeNETKHDRBS2
MedgenKHDRBS2
Genetic Testing Registry KHDRBS2
NextProtQ5VWX1 [Medical]
TSGene202559
GENETestsKHDRBS2
Target ValidationKHDRBS2
Huge Navigator KHDRBS2 [HugePedia]
snp3D : Map Gene to Disease202559
BioCentury BCIQKHDRBS2
ClinGenKHDRBS2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD202559
Chemical/Pharm GKB GenePA30093
Clinical trialKHDRBS2
Miscellaneous
canSAR (ICR)KHDRBS2 (select the gene name)
Probes
Litterature
PubMed24 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKHDRBS2
EVEXKHDRBS2
GoPubMedKHDRBS2
iHOPKHDRBS2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 6 11:14:52 CET 2018

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