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Aliases for ERMAP Gene

Aliases for ERMAP Gene

  • Erythroblast Membrane Associated Protein (Scianna Blood Group) 2 3 5
  • Scianna Blood Group Antigen 3 4
  • Radin Blood Group Antigen 3 4
  • RD 3 4
  • SC 3 4
  • Erythroblast Membrane-Associated Protein (RD And SC Blood Groups) 2
  • Erythroblast Membrane-Associated Protein (Scianna Blood Group) 2
  • Erythroblast Membrane-Associated Protein 2
  • Erythroid Membrane-Associated Protein 3
  • Scianna Blood Group (Sc) 3
  • Radin Blood Group (Rd) 3
  • Scianna Blood Group 2
  • Radin Blood Group 2
  • PRO2801 3
  • HERMAP 4
  • BTN5 3

External Ids for ERMAP Gene

Previous HGNC Symbols for ERMAP Gene

  • RD
  • SC

Previous GeneCards Identifiers for ERMAP Gene

  • GC01P043256
  • GC01P042286
  • GC01P042746
  • GC01P042697
  • GC01P042704
  • GC01P042951
  • GC01P043055
  • GC01P041402

Summaries for ERMAP Gene

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 BTN2A2.

UniProtKB/Swiss-Prot for ERMAP Gene

  • Possible role as a cell-adhesion or receptor molecule of erythroid cells.

Gene Wiki entry for ERMAP Gene

Additional gene information for ERMAP Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ERMAP Gene

Genomics for ERMAP Gene

Regulatory Elements for ERMAP Gene

Enhancers for ERMAP Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01H042949 2 FANTOM5 Ensembl ENCODE dbSUPER 12.1 +139.7 139711 15.6 FEZF1 YY1 ZNF143 SP3 NFYC MEF2D ZNF585B GLIS1 RCOR2 NBN SLC2A1-AS1 SZT2 SLC2A1 PPIH P3H1 MED8 RNU6-880P ERMAP LOC101929609 KDM4A-AS1
GH01H042845 1.1 ENCODE 9.8 +29.9 29853 2.4 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 YY1 ZNF766 ZNF143 FOS FOXJ3 YBX1 SZT2 CCDC30 PPIH ERMAP ZNF691 PIR46792
GH01H043709 1.2 FANTOM5 Ensembl ENCODE 5.1 +894.4 894430 3.5 JUN MAX CEBPB EP300 ZSCAN21 FOSL1 JUND FOS ARTN LOC101929592 ATP6V0B ERMAP SZT2 KDM4A-AS1 ENSG00000283414
GH01H042815 1 ENCODE 0.7 0.0 -47 2.5 HDGF FOXA2 PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 GLIS2 ELK1 SVBP PPIH ZNF691 ENSG00000228192 P3H1 SLC2A1-AS1 ERMAP GC01M042733
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ERMAP on UCSC Golden Path with GeneCards custom track

Promoters for ERMAP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000005508 -5 1401 SIN3A ARID4B DMAP1 ZNF2 YY1 GLIS2 ELK1 ZNF143 KLF7 ATF7

Transcription factor binding sites by QIAGEN in the ERMAP gene promoter:

Genomic Locations for ERMAP Gene

Genomic Locations for ERMAP Gene
27,885 bases
Plus strand

Genomic View for ERMAP Gene

Genes around ERMAP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ERMAP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ERMAP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ERMAP Gene

Proteins for ERMAP Gene

  • Protein details for ERMAP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Erythroid membrane-associated protein
    Protein Accession:
    Secondary Accessions:
    • D3DPW8
    • Q5VV53
    • Q6DUE0
    • Q7Z3X0
    • Q8NCV8
    • Q8NCW2
    • Q8NCW3
    • Q96PL6

    Protein attributes for ERMAP Gene

    475 amino acids
    Molecular mass:
    52605 Da
    Quaternary structure:
    No Data Available
    • Sequence=CAH72716.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

neXtProt entry for ERMAP Gene

Post-translational modifications for ERMAP Gene

Other Protein References for ERMAP Gene

No data available for DME Specific Peptides for ERMAP Gene

Domains & Families for ERMAP Gene

Gene Families for ERMAP Gene

Human Protein Atlas (HPA):
  • Blood group antigen proteins
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for ERMAP Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the immunoglobulin superfamily. BTN/MOG family.
  • Belongs to the immunoglobulin superfamily. BTN/MOG family.
genes like me logo Genes that share domains with ERMAP: view

Function for ERMAP Gene

Molecular function for ERMAP Gene

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

Phenotypes From GWAS Catalog for ERMAP Gene

Phenotypes for ERMAP Gene

GenomeRNAi human phenotypes for ERMAP:
genes like me logo Genes that share phenotypes with ERMAP: view

miRNA for ERMAP Gene

Clone Products

  • Addgene plasmids for ERMAP

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ERMAP Gene

Localization for ERMAP Gene

Subcellular locations from UniProtKB/Swiss-Prot for ERMAP Gene

Cell membrane; Single-pass type I membrane protein. Cytoplasm.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ERMAP gene
Compartment Confidence
plasma membrane 5
extracellular 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for ERMAP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane IDA 11549310
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ERMAP: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ERMAP Gene

Pathways & Interactions for ERMAP Gene

SuperPathways for ERMAP Gene

No Data Available

Gene Ontology (GO) - Biological Process for ERMAP Gene


No data available for Pathways by source and SIGNOR curated interactions for ERMAP Gene

Drugs & Compounds for ERMAP Gene

No Compound Related Data Available

Transcripts for ERMAP Gene

Unigene Clusters for ERMAP Gene

Erythroblast membrane-associated protein (Scianna blood group):
Representative Sequences:

Clone Products

  • Addgene plasmids for ERMAP

Alternative Splicing Database (ASD) splice patterns (SP) for ERMAP Gene

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

Relevant External Links for ERMAP Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ERMAP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ERMAP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ERMAP Gene

This gene is overexpressed in Plasma (46.2), Serum (11.9), and Placenta (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ERMAP Gene

Protein tissue co-expression partners for ERMAP Gene

NURSA nuclear receptor signaling pathways regulating expression of ERMAP Gene:


SOURCE GeneReport for Unigene cluster for ERMAP Gene:


mRNA Expression by UniProt/SwissProt for ERMAP Gene:

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.

Evidence on tissue expression from TISSUES for ERMAP Gene

  • Liver(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ERMAP Gene

Germ Layers:
  • mesoderm
  • immune
  • blood
  • white blood cell
genes like me logo Genes that share expression patterns with ERMAP: view

No data available for mRNA differential expression in normal tissues for ERMAP Gene

Orthologs for ERMAP Gene

This gene was present in the common ancestor of chordates.

Orthologs for ERMAP Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ERMAP 33 34
  • 99.3 (n)
(Bos Taurus)
Mammalia ERMAP 33
  • 83.67 (n)
(Canis familiaris)
Mammalia ERMAP 33 34
  • 81 (n)
(Mus musculus)
Mammalia Ermap 33 16 34
  • 76.4 (n)
(Rattus norvegicus)
Mammalia Ermap 33
  • 76.38 (n)
(Monodelphis domestica)
Mammalia ERMAP 34
  • 53 (a)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 18 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.14571 33
Species where no ortholog for ERMAP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for ERMAP Gene

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

Paralogs for ERMAP Gene

Paralogs for ERMAP Gene

(13) SIMAP similar genes for ERMAP Gene using alignment to 3 proteins: Pseudogenes for ERMAP Gene

genes like me logo Genes that share paralogs with ERMAP: view

Variants for ERMAP Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for ERMAP Gene

ERMAP is responsible for the Scianna/Radin blood group system which comprises seven different antigens (PubMed:12393480). 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 (PubMed:15660834, PubMed:16371048).

Sequence variations from dbSNP and Humsavar for ERMAP Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs387906265 Pathogenic 42,830,989(+) TGAGA(-/GA)TGCCC reference, frameshift-variant
rs56025238 Pathogenic 42,830,851(+) GGCCC(A/G)GGACG reference, missense
rs56047316 other 42,830,821(+) CAGCC(A/G)AGCTG reference, missense
rs56136737 other 42,830,860(+) CGGTA(C/G)CCAAG reference, missense
rs1000119763 -- 42,817,601(+) CGAGG(C/T)TCAAT intron-variant, upstream-variant-2KB, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for ERMAP Gene

Variant ID Type Subtype PubMed ID
nsv546110 CNV loss 21841781
esv3585856 CNV loss 21293372
esv3577829 CNV loss 25503493
esv3577827 CNV loss 25503493
esv3577249 CNV gain 25503493
esv3380077 CNV insertion 20981092
esv3337682 CNV insertion 20981092
esv3308455 CNV mobile element insertion 20981092

Variation tolerance for ERMAP Gene

Residual Variation Intolerance Score: 94.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.74; 66.46% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ERMAP Gene

Human Gene Mutation Database (HGMD)
Blood Group Antigen Gene Mutation Database (BGMUT)
Blood Group System
SNPedia medical, phenotypic, and genealogical associations of SNPs for

Disorders for ERMAP Gene

Relevant External Links for ERMAP

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:

No disorders were found for ERMAP Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ERMAP Gene

Publications for ERMAP Gene

  1. The polymorphism nt 76 in exon 2 of SC is more frequent in whites than in blacks. (PMID: 19856728) Fuchisawa A … Reid ME (Immunohematology 2009) 3 22 45 60
  2. STAR: a novel high-prevalence antigen in the Scianna blood group system. (PMID: 15660834) Hue-Roye K … Reid ME (Transfusion 2005) 3 4 22 60
  3. SCER and SCAN: two novel high-prevalence antigens in the Scianna blood group system. (PMID: 16371048) Flegel WA … Wagner FF (Transfusion 2005) 3 4 22 60
  4. Scianna antigens including Rd are expressed by ERMAP. (PMID: 12393480) Wagner FF … Flegel WA (Blood 2003) 3 4 22 60
  5. Cloning and characterization of human erythroid membrane-associated protein, human ERMAP. (PMID: 11549310) Xu H … Schueler PA (Genomics 2001) 2 3 4 60

Products for ERMAP Gene

  • Addgene plasmids for ERMAP

Sources for ERMAP Gene

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