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ERMAP Gene

protein-coding   GIFtS: 57
GCID: GC01P043256

Erythroblast Membrane-Associated Protein (Scianna Blood...

(Previous names: Radin blood group, Scianna blood group, erythroblast membrane-associated...)
(Previous symbols: RD, SC)
  Search for ERMAP
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Erythroblast Membrane-Associated Protein (Scianna Blood Group)1 2     Scianna Blood Group1
RD1 2 3 5     BTN52
SC1 2 3 5     PRO28012
Radin Blood Group Antigen2 3     Erythroid Membrane-Associated Protein2
Scianna Blood Group Antigen2 3     Radin Blood Group (Rd)2
Erythroblast Membrane-Associated Protein1     Scianna Blood Group (Sc)2
Erythroblast Membrane-Associated Protein (RD And SC Blood Groups)1     hERMAP3
Radin Blood Group1     

External Ids:    HGNC: 157431   Entrez Gene: 1146252   Ensembl: ENSG000001640107   OMIM: 6090175   UniProtKB: Q96PL53   

Export aliases for ERMAP gene to outside databases

Previous GC identifers: GC01P042286 GC01P042746 GC01P042697 GC01P042704 GC01P042951 GC01P043055 GC01P041402


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ERMAP Gene:
The protein encoded by this gene is a cell surface transmembrane protein that may act as an erythroid cell
receptor, possibly as a mediator of cell adhesion. Polymorphisms in this gene are responsible for the
Scianna/Radin blood group system. Two transcript variants encoding the same protein have been found for this
gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for ERMAP Gene:
ERMAP (erythroblast membrane-associated protein (Scianna blood group)) is a protein-coding gene. An important paralog of this gene is BTN3A2.

UniProtKB/Swiss-Prot: ERMAP_HUMAN, Q96PL5
Function: Possible role as a cell-adhesion or receptor molecule of erythroid cells

Gene Wiki entry for ERMAP Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000001.11  NT_032977.10  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ERMAP gene promoter:
         AML1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidERMAP promoter sequence
   Search Chromatin IP Primers for ERMAP

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ERMAP


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p34.2   Ensembl cytogenetic band:  1p34.2   HGNC cytogenetic band: 1p34

ERMAP Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ERMAP gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P043256:  view genomic region     (about GC identifiers)

Start:
43,282,776 bp from pter      End:
43,310,660 bp from pter
Size:
27,885 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: ERMAP_HUMAN, Q96PL5 (See protein sequence)
Recommended Name: Erythroid membrane-associated protein precursor  
Size: 475 amino acids; 52605 Da
Developmental stage: Expressed in fetal liver blood cells (at protein level). Highly expressed in fetal liver
Sequence caution: Sequence=CAH72716.1; Type=Erroneous gene model prediction;
Secondary accessions: D3DPW8 Q5VV53 Q6DUE0 Q7Z3X0 Q8NCV8 Q8NCW2 Q8NCW3 Q96PL6

Explore the universe of human proteins at neXtProt for ERMAP: NX_Q96PL5

Explore proteomics data for ERMAP at MOPED

Post-translational modifications: 

  • Glycosylated1
  • Glycosylation2 at Asn132
  • Modification sites at PhosphoSitePlus

  • See ERMAP Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001017922.1  NP_061008.2  

    ENSEMBL proteins: 
     ENSP00000361595   ENSP00000361592   ENSP00000332439  

    ERMAP Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Proteins for ERMAP
    OriGene Protein Over-expression Lysate for ERMAP
    OriGene MassSpec for ERMAP
    OriGene Custom Protein Services for ERMAP
    GenScript Custom Purified and Recombinant Proteins Services for ERMAP
    Novus Biologicals ERMAP Proteins
    Novus Biologicals ERMAP Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ERMAP

    ERMAP Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    R&D Systems Antibodies for ERMAP
    OriGene Antibodies for ERMAP
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    Novus Biologicals ERMAP Antibodies
    Abcam antibodies for ERMAP
    Cloud-Clone Corp. Antibodies for ERMAP
    Search ThermoFisher Antibodies for ERMAP
    LSBio Antibodies in human, mouse, rat for ERMAP

    ERMAP Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for ERMAP
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for ERMAP
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ERMAP
    Cloud-Clone Corp. CLIAs for ERMAP


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    BTN: Butyrophilins
    bloodgroup: Blood group antigens
    VSET: Immunoglobulin superfamily / V-set domain containing

    Selected InterPro protein domains (see all 10):
     IPR001870 B30.2/SPRY
     IPR013783 Ig-like_fold
     IPR013106 Ig_V-set
     IPR003879 Butyrophylin
     IPR007110 Ig-like_dom

    Graphical View of Domain Structure for InterPro Entry Q96PL5

    ProtoNet protein and cluster: Q96PL5

    1 Blocks protein domain: IPB003879 Butyrophylin C-terminal DUF signature

    UniProtKB/Swiss-Prot: ERMAP_HUMAN, Q96PL5
    Similarity: Belongs to the immunoglobulin superfamily. BTN/MOG family
    Similarity: Contains 1 B30.2/SPRY domain
    Similarity: Contains 1 Ig-like V-type (immunoglobulin-like) domain


    ERMAP for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ERMAP_HUMAN, Q96PL5
    Function: Possible role as a cell-adhesion or receptor molecule of erythroid cells

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    ERMAP for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ERMAP
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ERMAP

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ERMAP
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ERMAP

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat ERMAP using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ERMAP (see all 12):
    hsa-miR-485-5p hsa-miR-30c hsa-miR-30d hsa-miR-551b* hsa-miR-146a* hsa-miR-30a hsa-miR-544 hsa-miR-1255a
    SwitchGear 3'UTR luciferase reporter plasmidERMAP 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ERMAP
    Predesigned siRNA for gene silencing in human, mouse, rat ERMAP

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ERMAP

    Clone
    Products:
         
    OriGene clones in human, mouse for ERMAP (see all 14)
    OriGene ORF clones in mouse, rat for ERMAP
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): ERMAP (NM_018538)
    Sino Biological Human cDNA Clone for ERMAP
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ERMAP
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ERMAP

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for ERMAP
    Browse ESI BIO Cell Lines and PureStem Progenitors for ERMAP 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ERMAP


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ERMAP_HUMAN, Q96PL5: Cell membrane; Single-pass type I membrane protein. Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytosol1
    endoplasmic reticulum1
    extracellular1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005886plasma membrane IDA11549310
    GO:0016021integral component of membrane IEA--
    GO:0031410cytoplasmic vesicle IEA--

    ERMAP for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ERMAP
    Interactions:

        GeneGlobe Interaction Network for ERMAP

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for ERMAP (Q96PL53 ENSP000003615924) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    VASPP505523, ENSP000002459324I2D: score=1 STRING: ENSP00000245932
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ERMAP



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ERMAP gene (2 alternative transcripts): 
    NM_001017922.1  NM_018538.3  

    Unigene Cluster for ERMAP:

    Erythroblast membrane-associated protein (Scianna blood group)
    Hs.439437  [show with all ESTs]
    Unigene Representative Sequence: NM_001017922
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000487556(uc001cid.1) ENST00000372517(uc010ojw.1 uc001cic.1)
    ENST00000470938 ENST00000372514(uc001cie.1) ENST00000328249(uc001cif.1)

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat ERMAP using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ERMAP (see all 12):
    hsa-miR-485-5p hsa-miR-30c hsa-miR-30d hsa-miR-551b* hsa-miR-146a* hsa-miR-30a hsa-miR-544 hsa-miR-1255a
    SwitchGear 3'UTR luciferase reporter plasmidERMAP 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for ERMAP
    Predesigned siRNA for gene silencing in human, mouse, rat ERMAP
    Clone
    Products:
         
    OriGene clones in human, mouse for ERMAP (see all 14)
    OriGene ORF clones in mouse, rat for ERMAP
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): ERMAP (NM_018538)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ERMAP
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ERMAP
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for ERMAP
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat ERMAP
      QuantiTect SYBR Green Assays in human, mouse, rat ERMAP
      QuantiFast Probe-based Assays in human, mouse, rat ERMAP

    Additional mRNA sequence: 

    AF119899.1 AF311284.1 AF311285.1 AK056138.1 AK125447.1 AK295704.1 AK314436.1 AY049028.1 
    BC031548.1 BC099703.1 BC099707.1 BC099712.1 BC099713.1 

    10 DOTS entries:

    DT.100710212  DT.97831282  DT.99942774  DT.101979902  DT.422610  DT.121393458  DT.121393469  DT.95367077 
    DT.121393465  DT.121614226 

    Selected AceView cDNA sequences (see all 68):

    AF311284 AI470546 AI692760 AI914019 AI024447 BM993192 AA962640 AI608820 
    BG029062 AY049028 AA595634 BE084604 BX507568 BX537371 AI928379 AI991391 
    AI031866 BU677758 AK056138 BP377042 AI829706 AI207452 AW955704 AI796021 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ERMAP (see all 6)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10
    SP1:              -     -     -     -           -                                       
    SP2:                                            -                                       
    SP3:              -           -     -           -     -     -     -     -               
    SP4:              -     -     -     -                                                   
    SP5:                                -           -                                       


    ECgene alternative splicing isoforms for ERMAP

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ERMAP expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGAGCTGATG
    ERMAP Expression
    About this image


    ERMAP expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Testis (Reproductive System)
             Sertoli cells Seminiferous Tubules
     
     Blood (Cardiovascular System)
             Definitive Hematopoietic Stem Cells Definitive Yolk Sac
     
     Yolk Sac (Extraembryonic Tissues)
             Definitive Hematopoietic Stem Cells Definitive Yolk Sac
     
     Liver (Hepatobiliary System)
    ERMAP Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ERMAP Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.439437

    UniProtKB/Swiss-Prot: ERMAP_HUMAN, Q96PL5
    Tissue specificity: Expressed in erythroid-enriched bone marrow (at protein level). Highly expressed in bone
    marrow and to a lower extent in leukocytes, thymus, lymph node and spleen

        Custom PCR Arrays for ERMAP
    Primer
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    OriGene qPCR primer pairs and template standards for ERMAP
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat ERMAP
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    QuantiFast Probe-based Assays in human, mouse, rat ERMAP
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ERMAP

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for ERMAP gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ermap1 , 5 erythroblast membrane-associated protein1, 5 76.4(n)1
    73.68(a)1
      4 (55.34 cM)5
    270281  NM_013848.21  NP_038876.21 
     1191754575 
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.145712 Xenopus laevis transcribed sequence with weak similarity to protein refNP_542783.1 (H.sapiens) ring finger protein 36; trimless [Homo sapiens] less 81.81(n)    CD363175.1 
    rainbow trout
    (Oncorhynchus mykiss)
    Actinopterygii BX298937.22   -- 80.35(n)    BX298937.2 


    ENSEMBL Gene Tree for ERMAP (if available)
    TreeFam Gene Tree for ERMAP (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ERMAP gene
    BTN3A22  BTN2A12  BTNL82  BTN2A22  BTN3A32  MOG2  BTNL22  BTN3A12  
    BTN1A12  BTNL32  BTNL92  
    13 SIMAP similar genes for ERMAP using alignment to 3 protein entries:     ERMAP_HUMAN (see all proteins):
    MEFV    TRIM11    TRIM41    TRIM69    TRIM27    TRIM39
    TRIM21    TRIM68    BTN3A3    BTN3A1    BTNL9    BTN2A2
    TRIM16L

    ERMAP for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for ERMAP
    PGOHUM00000263132


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Polymorphic Variants from UniProtKB/Swiss-Prot
    ERMAP_HUMAN, Q96PL5: ERMAP is responsible for the Scianna/Radin blood group system which comprises seven different
    antigens. The Sc1 and Sc2 antigens are resulting from a single variation in position 57; Arg-57 corresponds to
    the Sc2 antigen and Gly-57 to the Sc1 antigen. The Sc2 antigen is rare with an occurrence of less than 1% in the
    population while Sc1 is more frequent. Sc3 is not expressed by individuals homozygous for a null allele encoding
    a truncated protein lacking its extracellular part (Sc-3). The Sc4 antigen corresponding to the previously
    defined Radin blood group antigen (Rd) is due to a single variation in position 60; Ala-60 corresponds to
    Sc4/Rd(+), the antigenic form of the protein. Sc4 is found in less than 1% of the population. Sc5/STAR, Sc6/SCER
    and Sc7/SCAN antigens are due to single variations in positions 47, 81 and 35 respectively. Alloantibodies to the
    low frequency Sc2 and Sc4 antigens are the cause of hemolytic disease in the newborn


    Selected SNPs for ERMAP (see all 2754)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs560473161,2,,4
    Cpathogenic143375019(+) CAGCCG/AAGCTG 4 /K /E mis11Minor allele frequency- A:0.00NA 3386
    rs560252381,2,,4
    C,Fpathogenic143375049(+) GGCCCG/AGGACG 4 /R /G mis12Minor allele frequency- A:0.00NA EU 4569
    rs561367371,2,,4
    C,Fpathogenic143375058(+) CGGTAC/GCCAAG 4 P A mis12Minor allele frequency- G:0.00NA EU 4919
    rs2005218451,2
    C--43286054(+) TCTCTC/TTTTTT 1 -- int10--------
    rs114058421,2
    C--43292525(+) AAAAAA/-GTTAC 2 -- int1 trp31Minor allele frequency- -:0.00NA 2
    rs1997861321,2
    C--43292542(-) TGTAAC/TTNNNN 2 -- int10--------
    rs1410453611,2
    C--43294155(+) CATTC-/TTTTTT 2 -- int10--------
    rs286052281,2
    C--43297242(+) TTTTTC/TTCTCT 2 -- int1 trp31Minor allele frequency- T:0.00NA 2
    rs1113260591,2
    C--43298198(+) ACGCCC/TGGCTA 2 -- int11Minor allele frequency- T:0.50CSA 2
    rs339212511,2
    C,F--43301022(+) AAAGG-/CCCCTGG 2 -- int14Minor allele frequency- CC:0.46NS CSA 98

    HapMap Linkage Disequilibrium report for ERMAP (43282776 - 43310660 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for ERMAP:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv272728CNV Insertion20981092
    nsv870981CNV Loss21882294
    nsv871947CNV Loss21882294
    nsv870684CNV Loss21882294

    Human Gene Mutation Database (HGMD): ERMAP
    Locus Specific Mutation Databases (LSDB): ERMAP

    Blood Group Antigen Gene Mutation Database (BGMUT) blood group system
    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 609017   
    OMIM disorders: 111750  111620  

    ERMAP for disorders           About GeneDecksing

    Genetic Association Database (GAD): ERMAP
    Human Genome Epidemiology (HuGE) Navigator: ERMAP (2 documents)

    Export disorders for ERMAP gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ERMAP gene, integrated from 10 sources (see all 20):
    (articles sorted by number of sources associating them with ERMAP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of human erythroid membrane-associated protein, human ERMAP. (PubMed id 11549310)1, 2, 3 Xu H.... Schueler P.A. (Genomics 2001)
    2. Scianna antigens including Rd are expressed by ERMAP. (PubMed id 12393480)1, 2, 9 Wagner F.F.... Flegel W.A. (Blood 2003)
    3. The polymorphism nt 76 in exon 2 of SC is more frequent in whites than in blacks. (PubMed id 19856728)1, 4, 9 Fuchisawa A....Reid M.E. (Immunohematology 2009)
    4. SCER and SCAN: two novel high-prevalence antigens in the Scianna blood group system. (PubMed id 16371048)1, 2, 9 Flegel W.A.... Wagner F.F. (Transfusion 2005)
    5. STAR: a novel high-prevalence antigen in the Scianna blood group system. (PubMed id 15660834)1, 2, 9 Hue-Roye K.... Reid M.E. (Transfusion 2005)
    6. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. Human ERMAP: an erythroid adhesion/receptor transmembrane protein. (PubMed id 11783959)1, 2 Su Y.-Y.... Chui D.H.K. (Blood Cells Mol. Dis. 2001)
    9. SC*994C&gt;T causes the Sc(null) phenotype in Pacific Islanders and successful transfusion of Sc3+ blood to a patient with anti-Sc3. (PubMed id 24094239)1 Reid M.E....Lomas-Francis C. (Immunohematology 2013)
    10. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 114625 HGNC: 15743 AceView: ERMAP Ensembl:ENSG00000164010 euGenes: HUgn114625
    ECgene: ERMAP H-InvDB: ERMAP

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ERMAP Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ERMAP Genetics and Cytogenetics in Oncology and Haematology
    dbRBC/BGMUThttp://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/systems_info&system=scianna
    SeattleSNPshttp://pga.gs.washington.edu/data/ermap/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ERMAP gene:
    Search GeneIP for patents involving ERMAP

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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