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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

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)
About This Section

Aliases
Erythroblast Membrane-Associated Protein (Scianna Blood Group)1 2     Radin Blood Group1
RD1 2 3 5     Scianna Blood Group1
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

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_032977.9  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ERMAP gene promoter:
         AML1a   
         Other transcription factors

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

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ERMAP_HUMAN, Q96PL5 (See protein sequence)
Recommended Name: Erythroid membrane-associated protein precursor  
Size: 475 amino acids; 52605 Da
Subcellular location: Cell membrane; Single-pass type I membrane protein. Cytoplasm
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:

  • UniProtKB: Glycosylated
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96PL5

  • ERMAP Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

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

    ENSEMBL proteins: 
     ENSP00000361595   ENSP00000361592   ENSP00000332439  

    Human Recombinant Protein Products for ERMAP: 
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    OriGene Protein Over-expression Lysate for ERMAP
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    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 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

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

    ERMAP for ontologies           About GeneDecksing



    ERMAP Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for ERMAP 

    Assay Products for ERMAP: 
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    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)
    About This Section
    HGNC Gene Families: 
    bloodgroup: Blood group antigens
    VSET: Immunoglobulin superfamily / V-set domain containing

    5/10 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    About this table

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


    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for ERMAP 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ERMAP
    8/12 QIAGEN miScript miRNA 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
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    Gene Editing
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    Clone
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    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
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ERMAP
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                         Customized lentivirus expression plasmids for stable overexpression of ERMAP 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ERMAP


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section




    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins 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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ERMAP

    Search CenterWatch for drugs/clinical trials and news about 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ERMAP
    8/12 QIAGEN miScript miRNA 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:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for ERMAP
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ERMAP
    Clone
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    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
    Sirion Biotech Customized lentivirus for stable overexpression of ERMAP 
                         Customized lentivirus expression plasmids for stable overexpression of ERMAP 
    Primer
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    OriGene qPCR primer pairs and template standards for ERMAP
    SABiosciences RT2 qPCR Primer Assay in human, mouse / rat ERMAP
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ERMAP
      QIAGEN 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 

    24/68 AceView cDNA sequences (see all 68):

    AI914019 AF311284 AI024447 AI608820 AA962640 BG029062 AY049028 AI692760 
    BM993192 AI470546 AA595634 BX507568 BE084604 AI796021 AI031866 BX537371 
    AF119899 AK125447 AI207452 BU950932 BU677758 BP377042 AK056138 NM_018538 

    GeneLoc Exon Structure

    5/6 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ERMAP expression in normal human tissues (normalized intensities)      ERMAP embryonic expression: see
    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 
     5/6 selected tissues (see all 6) fully expand
     
     Breast (Uncategorized)
             breast epithelium   
     
     Testis (Reproductive System)
             Sertoli cells Seminiferous Tubules
     
     Bone (Muscoskeletal System)
             bone marrow   
     
     Blood (Muscoskeletal System)
             bone marrow   
     
     Epithelium
             breast epithelium   

    See ERMAP Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ERMAP

    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

        SABiosciences Custom PCR Arrays for ERMAP
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    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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for ERMAP gene from 4/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ermap1 , 5 erythroblast membrane-associated protein1, 5 76.43(n)1
    73.88(a)1
      4 (55.34 cM)5
    270281  NM_013848.21  NP_038876.21 
     1191754575 
    chicken
    (Gallus gallus)
    Aves MOG6
    --
    (see all 12)
    Uncharacterized protein
    (see all 12)
    26(a)
    26(a)
    (see all 12)
    1 ↔ many
    1 ↔ many
    (see all 12)
    2(97952712-97956997)
    16(258235-259935)
    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 
    zebrafish
    (Danio rerio)
    Actinopterygii CABZ01073115.16
    si:ch73-137d22.16
    (see all 6)
    si:ch73-137d22.1
    (see all 6)
    7(a)
    16(a)
    (see all 6)
    possible ortholog
    many ↔ many
    (see all 6)
    7(826637-844654)
    3(9754282-9794536)


    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)
    About This Section
    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    UniProtKB/Swiss-Prot: ERMAP_HUMAN, Q96PL5
    Polymorphism: 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


    10/2754 SNPs in ERMAP are shown (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
    VAR_0254844
    ----see VAR_0254842 R Q mis40--------
    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

    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
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing ERMAP
    DNA2.0 Custom Variant and Variant Library Synthesis for ERMAP

    (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.)
    About This Section

    ERMAP for disorders           About MalaCards
    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)
    About This Section

    PubMed articles for ERMAP gene, integrated from 9 sources (see all 18):
    (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. (2001)
    2. Scianna antigens including Rd are expressed by ERMAP. (PubMed id 12393480)1, 2, 9 Wagner F.F.... Flegel W.A. (2003)
    3. The polymorphism nt 76 in exon 2 of SC is more freque nt in whites than in blacks. (PubMed id 19856728)1, 4, 9 Fuchisawa A....Reid M.E. (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. (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. (2005)
    6. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (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. (2004)
    8. Human ERMAP: an erythroid adhesion/receptor transmembrane protein. (PubMed id 11783959)1, 2 Su Y.-Y.... Chui D.H.K. (2001)
    9. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    10. [Expression of human ermap gene in umbilical cord blood mononuclear cells during differentiation and development towards erythroid lineage] (PubMed id 18426659)1 Lin L.D....Liang J.F. (2008)

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

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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