Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

ERMAP (erythroblast membrane associated protein (Scianna blood group))

Identity

Alias (NCBI)BTN5
PRO2801
RD
SC
HGNC (Hugo) ERMAP
HGNC Alias symbBTN5
HGNC Previous nameRD
 SC
HGNC Previous nameRadin blood group
 Scianna blood group
 erythroblast membrane-associated protein
 erythroblast membrane-associated protein (RD and SC blood groups)
 erythroblast membrane-associated protein (Scianna blood group)
LocusID (NCBI) 114625
Atlas_Id 40487
Location 1p34.2  [Link to chromosome band 1p34]
Location_base_pair Starts at 42825578 and ends at 42844989 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)
SLC2A4 (17p13.1) / ERMAP (1p34.2)

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 Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(1;17)(p34;p13) SLC2A4/ERMAP


External links

 

Nomenclature
HGNC (Hugo)ERMAP   15743
LRG (Locus Reference Genomic)LRG_806
Cards
Entrez_Gene (NCBI)ERMAP    erythroblast membrane associated protein (Scianna blood group)
AliasesBTN5; PRO2801; RD; SC
GeneCards (Weizmann)ERMAP
Ensembl hg19 (Hinxton)ENSG00000164010 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000164010 [Gene_View]  ENSG00000164010 [Sequence]  chr1:42825578-42844989 [Contig_View]  ERMAP [Vega]
ICGC DataPortalENSG00000164010
TCGA cBioPortalERMAP
AceView (NCBI)ERMAP
Genatlas (Paris)ERMAP
SOURCE (Princeton)ERMAP
Genetics Home Reference (NIH)ERMAP
Genomic and cartography
GoldenPath hg38 (UCSC)ERMAP  -     chr1:42825578-42844989 +  1p34.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ERMAP  -     1p34.2   [Description]    (hg19-Feb_2009)
GoldenPathERMAP - 1p34.2 [CytoView hg19]  ERMAP - 1p34.2 [CytoView hg38]
ImmunoBaseENSG00000164010
Genome Data Viewer NCBIERMAP [Mapview hg19]  
OMIM111620   111750   609017   
Gene and transcription
Genbank (Entrez)AF119899 AF311284 AF311285 AK056138 AK125447
RefSeq transcript (Entrez)NM_001017922 NM_018538
Consensus coding sequences : CCDS (NCBI)ERMAP
Gene ExpressionERMAP [ NCBI-GEO ]   ERMAP [ EBI - ARRAY_EXPRESS ]   ERMAP [ SEEK ]   ERMAP [ MEM ]
Gene Expression Viewer (FireBrowse)ERMAP [ Firebrowse - Broad ]
GenevisibleExpression of ERMAP in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)114625
GTEX Portal (Tissue expression)ERMAP
Human Protein AtlasENSG00000164010-ERMAP [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96PL5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96PL5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96PL5
PhosPhoSitePlusQ96PL5
Domaine pattern : Prosite (Expaxy)B302_SPRY (PS50188)    IG_LIKE (PS50835)   
Domains : Interpro (EBI)B30.2/SPRY    B30.2/SPRY_sf    Butyrophylin_SPRY    ConA-like_dom_sf    Ig-like_dom    Ig-like_dom_sf    Ig-like_fold    Ig_sub    Ig_V-set    PRY    SPRY_dom   
Domain families : Pfam (Sanger)PRY (PF13765)    SPRY (PF00622)    V-set (PF07686)   
Domain families : Pfam (NCBI)pfam13765    pfam00622    pfam07686   
Domain families : Smart (EMBL)IG (SM00409)  IGv (SM00406)  PRY (SM00589)  SPRY (SM00449)  
Conserved Domain (NCBI)ERMAP
SuperfamilyQ96PL5
AlphaFold pdb e-kbQ96PL5   
Human Protein Atlas [tissue]ENSG00000164010-ERMAP [tissue]
HPRD12355
Protein Interaction databases
DIP (DOE-UCLA)Q96PL5
IntAct (EBI)Q96PL5
BioGRIDERMAP
STRING (EMBL)ERMAP
ZODIACERMAP
Ontologies - Pathways
QuickGOQ96PL5
Ontology : AmiGOregulation of cytokine production  signaling receptor binding  protein binding  Golgi apparatus  cytosol  plasma membrane  external side of plasma membrane  integral component of membrane  T cell receptor signaling pathway  
Ontology : EGO-EBIregulation of cytokine production  signaling receptor binding  protein binding  Golgi apparatus  cytosol  plasma membrane  external side of plasma membrane  integral component of membrane  T cell receptor signaling pathway  
NDEx NetworkERMAP
Atlas of Cancer Signalling NetworkERMAP
Wikipedia pathwaysERMAP
Orthology - Evolution
OrthoDB114625
GeneTree (enSembl)ENSG00000164010
Phylogenetic Trees/Animal Genes : TreeFamERMAP
Homologs : HomoloGeneERMAP
Homology/Alignments : Family Browser (UCSC)ERMAP
Gene fusions - Rearrangements
Fusion : QuiverERMAP
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerERMAP [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ERMAP
dbVarERMAP
ClinVarERMAP
MonarchERMAP
1000_GenomesERMAP 
Exome Variant ServerERMAP
GNOMAD BrowserENSG00000164010
Varsome BrowserERMAP
ACMGERMAP variants
VarityQ96PL5
Genomic Variants (DGV)ERMAP [DGVbeta]
DECIPHERERMAP [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisERMAP 
Mutations
ICGC Data PortalERMAP 
TCGA Data PortalERMAP 
Broad Tumor PortalERMAP
OASIS PortalERMAP [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICERMAP  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DERMAP
Mutations and Diseases : HGMDERMAP
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaERMAP
DgiDB (Drug Gene Interaction Database)ERMAP
DoCM (Curated mutations)ERMAP
CIViC (Clinical Interpretations of Variants in Cancer)ERMAP
Cancer3DERMAP
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM111620    111750    609017   
Orphanet
DisGeNETERMAP
MedgenERMAP
Genetic Testing Registry ERMAP
NextProtQ96PL5 [Medical]
GENETestsERMAP
Target ValidationERMAP
Huge Navigator ERMAP [HugePedia]
ClinGenERMAP
Clinical trials, drugs, therapy
MyCancerGenomeERMAP
Protein Interactions : CTDERMAP
Pharm GKB GenePA27860
PharosQ96PL5
Clinical trialERMAP
Miscellaneous
canSAR (ICR)ERMAP
HarmonizomeERMAP
DataMed IndexERMAP
Probes
Litterature
PubMed22 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXERMAP
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 : Mon Oct 4 15:08:26 CEST 2021

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.