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EHBP1 (EH domain binding protein 1)

Identity

Alias (NCBI)HPC12
NACSIN
HGNC (Hugo) EHBP1
HGNC Alias symbKIAA0903
NACSIN
LocusID (NCBI) 23301
Atlas_Id 54276
Location 2p15  [Link to chromosome band 2p15]
Location_base_pair Starts at 62705713 and ends at 63046486 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)
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

 



External links

 

Nomenclature
HGNC (Hugo)EHBP1   29144
Cards
Entrez_Gene (NCBI)EHBP1    EH domain binding protein 1
AliasesHPC12; NACSIN
GeneCards (Weizmann)EHBP1
Ensembl hg19 (Hinxton)ENSG00000115504 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000115504 [Gene_View]  ENSG00000115504 [Sequence]  chr2:62705713-63046486 [Contig_View]  EHBP1 [Vega]
ICGC DataPortalENSG00000115504
TCGA cBioPortalEHBP1
AceView (NCBI)EHBP1
Genatlas (Paris)EHBP1
SOURCE (Princeton)EHBP1
Genetics Home Reference (NIH)EHBP1
Genomic and cartography
GoldenPath hg38 (UCSC)EHBP1  -     chr2:62705713-63046486 +  2p15   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EHBP1  -     2p15   [Description]    (hg19-Feb_2009)
GoldenPathEHBP1 - 2p15 [CytoView hg19]  EHBP1 - 2p15 [CytoView hg38]
ImmunoBaseENSG00000115504
Genome Data Viewer NCBIEHBP1 [Mapview hg19]  
OMIM609922   611868   
Gene and transcription
Genbank (Entrez)AB020710 AK000828 AK000986 AK292545 AK309125
RefSeq transcript (Entrez)NM_001142614 NM_001142615 NM_001142616 NM_001354212 NM_001354213 NM_001354214 NM_001354215 NM_001354216 NM_001354217 NM_001354218 NM_001354219 NM_001354220 NM_001354221 NM_001354222 NM_015252
Consensus coding sequences : CCDS (NCBI)EHBP1
Gene ExpressionEHBP1 [ NCBI-GEO ]   EHBP1 [ EBI - ARRAY_EXPRESS ]   EHBP1 [ SEEK ]   EHBP1 [ MEM ]
Gene Expression Viewer (FireBrowse)EHBP1 [ Firebrowse - Broad ]
GenevisibleExpression of EHBP1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23301
GTEX Portal (Tissue expression)EHBP1
Human Protein AtlasENSG00000115504-EHBP1 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusQ8NDI1
Domaine pattern : Prosite (Expaxy)BMERB (PS51848)    C2_NT (PS51840)    CH (PS50021)   
Domains : Interpro (EBI)bMERB_dom    CH-domain    CH_dom_sf    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
PDB (RSDB)2D89    6ZSH    6ZSI    6ZSJ   
PDB Europe2D89    6ZSH    6ZSI    6ZSJ   
PDB (PDBSum)2D89    6ZSH    6ZSI    6ZSJ   
PDB (IMB)2D89    6ZSH    6ZSI    6ZSJ   
Structural Biology KnowledgeBase2D89    6ZSH    6ZSI    6ZSJ   
SCOP (Structural Classification of Proteins)2D89    6ZSH    6ZSI    6ZSJ   
CATH (Classification of proteins structures)2D89    6ZSH    6ZSI    6ZSJ   
SuperfamilyQ8NDI1
AlphaFold pdb e-kbQ8NDI1   
Human Protein Atlas [tissue]ENSG00000115504-EHBP1 [tissue]
HPRD10109
Protein Interaction databases
DIP (DOE-UCLA)Q8NDI1
IntAct (EBI)Q8NDI1
BioGRIDEHBP1
STRING (EMBL)EHBP1
ZODIACEHBP1
Ontologies - Pathways
QuickGOQ8NDI1
Ontology : AmiGOnucleoplasm  endosome  microtubule organizing center  cytosol  plasma membrane  endocytosis  protein transport  actin cytoskeleton organization  filamentous actin  
Ontology : EGO-EBInucleoplasm  endosome  microtubule organizing center  cytosol  plasma membrane  endocytosis  protein transport  actin cytoskeleton organization  filamentous actin  
NDEx NetworkEHBP1
Atlas of Cancer Signalling NetworkEHBP1
Wikipedia pathwaysEHBP1
Orthology - Evolution
OrthoDB23301
GeneTree (enSembl)ENSG00000115504
Phylogenetic Trees/Animal Genes : TreeFamEHBP1
Homologs : HomoloGeneEHBP1
Homology/Alignments : Family Browser (UCSC)EHBP1
Gene fusions - Rearrangements
Fusion : MitelmanDGCR2/EHBP1 [22q11.21/2p15]  
Fusion : MitelmanEHBP1/BCL11A [2p15/2p16.1]  
Fusion : MitelmanPREX1/EHBP1 [20q13.13/2p15]  
Fusion : QuiverEHBP1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEHBP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EHBP1
dbVarEHBP1
ClinVarEHBP1
MonarchEHBP1
1000_GenomesEHBP1 
Exome Variant ServerEHBP1
GNOMAD BrowserENSG00000115504
Varsome BrowserEHBP1
ACMGEHBP1 variants
VarityQ8NDI1
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]  
Somatic Mutations in Cancer : COSMIC3DEHBP1
Mutations and Diseases : HGMDEHBP1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaEHBP1
DgiDB (Drug Gene Interaction Database)EHBP1
DoCM (Curated mutations)EHBP1
CIViC (Clinical Interpretations of Variants in Cancer)EHBP1
Cancer3DEHBP1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609922    611868   
Orphanet
DisGeNETEHBP1
MedgenEHBP1
Genetic Testing Registry EHBP1
NextProtQ8NDI1 [Medical]
GENETestsEHBP1
Target ValidationEHBP1
Huge Navigator EHBP1 [HugePedia]
ClinGenEHBP1
Clinical trials, drugs, therapy
MyCancerGenomeEHBP1
Protein Interactions : CTDEHBP1
Pharm GKB GenePA128394620
PharosQ8NDI1
Clinical trialEHBP1
Miscellaneous
canSAR (ICR)EHBP1
HarmonizomeEHBP1
DataMed IndexEHBP1
Probes
Litterature
PubMed48 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXEHBP1
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 15:07:49 CEST 2021

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