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EHBP1 (EH domain binding protein 1)

Identity

Alias_symbol (synonym)KIAA0903
NACSIN
Other aliasHPC12
HGNC (Hugo) EHBP1
LocusID (NCBI) 23301
Atlas_Id 54276
Location 2p15  [Link to chromosome band 2p15]
Location_base_pair Starts at 62706897 and ends at 63046486 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CTD-2589C9.4 () / EHBP1 (2p15)DGCR2 (22q11.21) / EHBP1 (2p15)EHBP1 (2p15) / BCL11A (2p16.1)
EHBP1 (2p15) / BLOC1S2 (10q24.31)EHBP1 (2p15) / COMMD1 (2p15)EHBP1 (2p15) / EML4 (2p21)
EHBP1 (2p15) / NKD2 (5p15.33)EHBP1 (2p15) / UGP2 (2p15)JAML (11q23.3) / EHBP1 (2p15)
PDE5A (4q26) / EHBP1 (2p15)PPHLN1 (12q12) / EHBP1 (2p15)PREX1 (20q13.13) / EHBP1 (2p15)
SGSH (17q25.3) / EHBP1 (2p15)CTD-2589C9.4 EHBP1 2p15DGCR2 22q11.21 / EHBP1 2p15
EHBP1 2p15 / BCL11A 2p16.1EHBP1 2p15 / COMMD1 2p15PREX1 20q13.13 / EHBP1 2p15

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 ]
  Lung: Translocations in Squamous Cell Carcinoma


External links

Nomenclature
HGNC (Hugo)EHBP1   29144
Cards
Entrez_Gene (NCBI)EHBP1  23301  EH domain binding protein 1
AliasesHPC12; NACSIN
GeneCards (Weizmann)EHBP1
Ensembl hg19 (Hinxton)ENSG00000115504 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000115504 [Gene_View]  chr2:62706897-63046486 [Contig_View]  EHBP1 [Vega]
ICGC DataPortalENSG00000115504
TCGA cBioPortalEHBP1
AceView (NCBI)EHBP1
Genatlas (Paris)EHBP1
WikiGenes23301
SOURCE (Princeton)EHBP1
Genetics Home Reference (NIH)EHBP1
Genomic and cartography
GoldenPath hg38 (UCSC)EHBP1  -     chr2:62706897-63046486 +  2p15   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EHBP1  -     2p15   [Description]    (hg19-Feb_2009)
EnsemblEHBP1 - 2p15 [CytoView hg19]  EHBP1 - 2p15 [CytoView hg38]
Mapping of homologs : NCBIEHBP1 [Mapview hg19]  EHBP1 [Mapview hg38]
OMIM609922   611868   
Gene and transcription
Genbank (Entrez)AB020710 AK000828 AK000986 AK292545 AK309125
RefSeq transcript (Entrez)NM_001142614 NM_001142615 NM_001142616 NM_015252
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EHBP1
Cluster EST : UnigeneHs.271667 [ NCBI ]
CGAP (NCI)Hs.271667
Alternative Splicing GalleryENSG00000115504
Gene ExpressionEHBP1 [ NCBI-GEO ]   EHBP1 [ EBI - ARRAY_EXPRESS ]   EHBP1 [ SEEK ]   EHBP1 [ MEM ]
Gene Expression Viewer (FireBrowse)EHBP1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23301
GTEX Portal (Tissue expression)EHBP1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8NDI1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8NDI1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8NDI1
Splice isoforms : SwissVarQ8NDI1
PhosPhoSitePlusQ8NDI1
Domaine pattern : Prosite (Expaxy)CH (PS50021)   
Domains : Interpro (EBI)CH-domain    DUF3585    EHBP1    NT-C2   
Domain families : Pfam (Sanger)CH (PF00307)    DUF3585 (PF12130)    NT-C2 (PF10358)   
Domain families : Pfam (NCBI)pfam00307    pfam12130    pfam10358   
Domain families : Smart (EMBL)CH (SM00033)  
Conserved Domain (NCBI)EHBP1
DMDM Disease mutations23301
Blocks (Seattle)EHBP1
PDB (SRS)2D89   
PDB (PDBSum)2D89   
PDB (IMB)2D89   
PDB (RSDB)2D89   
Structural Biology KnowledgeBase2D89   
SCOP (Structural Classification of Proteins)2D89   
CATH (Classification of proteins structures)2D89   
SuperfamilyQ8NDI1
Human Protein AtlasENSG00000115504
Peptide AtlasQ8NDI1
HPRD10109
IPIIPI00178187   IPI00845271   IPI00433194   IPI01009505   IPI00894075   IPI00894338   IPI00893007   IPI00892610   IPI00893224   IPI00892842   IPI00893089   IPI00893239   
Protein Interaction databases
DIP (DOE-UCLA)Q8NDI1
IntAct (EBI)Q8NDI1
FunCoupENSG00000115504
BioGRIDEHBP1
STRING (EMBL)EHBP1
ZODIACEHBP1
Ontologies - Pathways
QuickGOQ8NDI1
Ontology : AmiGOendosome  cytosol  plasma membrane  endocytosis  protein transport  
Ontology : EGO-EBIendosome  cytosol  plasma membrane  endocytosis  protein transport  
NDEx NetworkEHBP1
Atlas of Cancer Signalling NetworkEHBP1
Wikipedia pathwaysEHBP1
Orthology - Evolution
OrthoDB23301
GeneTree (enSembl)ENSG00000115504
Phylogenetic Trees/Animal Genes : TreeFamEHBP1
HOVERGENQ8NDI1
HOGENOMQ8NDI1
Homologs : HomoloGeneEHBP1
Homology/Alignments : Family Browser (UCSC)EHBP1
Gene fusions - Rearrangements
Fusion : MitelmanDGCR2/EHBP1 [22q11.21/2p15]  [t(2;22)(p15;q11)]  
Fusion : MitelmanEHBP1/BCL11A [2p15/2p16.1]  [t(2;2)(p15;p16)]  
Fusion : MitelmanPREX1/EHBP1 [20q13.13/2p15]  [t(2;20)(p15;q13)]  
Fusion: TCGACTD-2589C9.4 EHBP1 2p15 BRCA
Fusion: TCGADGCR2 22q11.21 EHBP1 2p15 LUAD
Fusion: TCGAEHBP1 2p15 BCL11A 2p16.1 BRCA
Fusion: TCGAEHBP1 2p15 COMMD1 2p15 BRCA LUAD
Fusion: TCGAPREX1 20q13.13 EHBP1 2p15 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEHBP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EHBP1
dbVarEHBP1
ClinVarEHBP1
1000_GenomesEHBP1 
Exome Variant ServerEHBP1
ExAC (Exome Aggregation Consortium)EHBP1 (select the gene name)
Genetic variants : HAPMAP23301
Genomic Variants (DGV)EHBP1 [DGVbeta]
DECIPHEREHBP1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEHBP1 
Mutations
ICGC Data PortalEHBP1 
TCGA Data PortalEHBP1 
Broad Tumor PortalEHBP1
OASIS PortalEHBP1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEHBP1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEHBP1
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 EHBP1
DgiDB (Drug Gene Interaction Database)EHBP1
DoCM (Curated mutations)EHBP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EHBP1 (select a term)
intoGenEHBP1
Cancer3DEHBP1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609922    611868   
Orphanet
MedgenEHBP1
Genetic Testing Registry EHBP1
NextProtQ8NDI1 [Medical]
TSGene23301
GENETestsEHBP1
Target ValidationEHBP1
Huge Navigator EHBP1 [HugePedia]
snp3D : Map Gene to Disease23301
BioCentury BCIQEHBP1
ClinGenEHBP1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23301
Chemical/Pharm GKB GenePA128394620
Clinical trialEHBP1
Miscellaneous
canSAR (ICR)EHBP1 (select the gene name)
Probes
Litterature
PubMed33 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEHBP1
EVEXEHBP1
GoPubMedEHBP1
iHOPEHBP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Aug 1 17:00:14 CEST 2017

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