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Aliases for ERMAP Gene

Aliases for ERMAP Gene

  • Erythroblast Membrane Associated Protein (Scianna Blood Group) 2 3
  • 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 2
  • 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 BTNL8.

UniProtKB/Swiss-Prot for ERMAP Gene

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

Gene Wiki entry for ERMAP Gene

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

Genomics for ERMAP Gene

Regulatory Elements for ERMAP Gene

Promoters for ERMAP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ERMAP on UCSC Golden Path with GeneCards custom track

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

Genomic Location for ERMAP Gene

Chromosome:
1
Start:
42,817,105 bp from pter
End:
42,844,989 bp from pter
Size:
27,885 bases
Orientation:
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:
    Q96PL5-ERMAP_HUMAN
    Recommended name:
    Erythroid membrane-associated protein
    Protein Accession:
    Q96PL5
    Secondary Accessions:
    • D3DPW8
    • Q5VV53
    • Q6DUE0
    • Q7Z3X0
    • Q8NCV8
    • Q8NCW2
    • Q8NCW3
    • Q96PL6

    Protein attributes for ERMAP Gene

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

neXtProt entry for ERMAP Gene

Proteomics data for ERMAP Gene at MOPED

Post-translational modifications for ERMAP Gene

Other Protein References for ERMAP Gene

Antibody Products

No data available for DME Specific Peptides for ERMAP Gene

Domains & Families for ERMAP Gene

Suggested Antigen Peptide Sequences for ERMAP Gene

Graphical View of Domain Structure for InterPro Entry

Q96PL5

UniProtKB/Swiss-Prot:

ERMAP_HUMAN :
  • Contains 1 B30.2/SPRY domain.
  • Belongs to the immunoglobulin superfamily. BTN/MOG family.
Domain:
  • Contains 1 B30.2/SPRY domain.
  • Contains 1 Ig-like V-type (immunoglobulin-like) domain.
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 for ERMAP Gene

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

Human Phenotype Ontology for ERMAP Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for ERMAP Gene

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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

COMPARTMENTS
Jensen Localization Image for ERMAP Gene COMPARTMENTS Subcellular localization image for ERMAP gene
Compartment Confidence
plasma membrane 5
cytosol 1
endoplasmic reticulum 1
extracellular 1
mitochondrion 1
peroxisome 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
genes like me logo Genes that share ontologies with ERMAP: view

Pathways & Interactions for ERMAP Gene

SuperPathways for ERMAP Gene

No Data Available

Gene Ontology (GO) - Biological Process for ERMAP Gene

None

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:

Inhibitory RNA Products

Flow Cytometry Products

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: - -
SP6:

Relevant External Links for ERMAP Gene

GeneLoc Exon Structure for
ERMAP
ECgene alternative splicing isoforms for
ERMAP

Expression for ERMAP Gene

mRNA expression in normal human tissues 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, MOPED, and MaxQB for ERMAP Gene



SOURCE GeneReport for Unigene cluster for ERMAP Gene Hs.439437

mRNA Expression by UniProt/SwissProt for ERMAP Gene

Q96PL5-ERMAP_HUMAN
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.
genes like me logo Genes that share expression patterns with ERMAP: view

Protein tissue co-expression partners for ERMAP Gene

Primer Products

In Situ Assay Products

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
cow
(Bos Taurus)
Mammalia ERMAP 35
  • 83.67 (n)
  • 79.83 (a)
dog
(Canis familiaris)
Mammalia ERMAP 35
  • 81 (n)
  • 75.85 (a)
ERMAP 36
  • 76 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ermap 35
  • 76.4 (n)
  • 73.68 (a)
Ermap 16
Ermap 36
  • 59 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ERMAP 35
  • 99.3 (n)
  • 99.37 (a)
ERMAP 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ermap 35
  • 76.38 (n)
  • 69.46 (a)
oppossum
(Monodelphis domestica)
Mammalia ERMAP 36
  • 53 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 18 (a)
ManyToMany
African clawed frog
(Xenopus laevis)
Amphibia Xl.14571 35
Species with no ortholog for ERMAP:
  • 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

ENSEMBL:
Gene Tree for ERMAP (if available)
TreeFam:
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.org 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

Q96PL5-ERMAP_HUMAN
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
rs35757049 - 42,830,459(+) GATGG(C/T)GAGTT reference, missense
rs33953680 - 42,830,524(+) CTGTG(C/T)ATGTG reference, missense
rs146429994 - 42,830,785(+) ATGCC(A/G)GCAAG reference, missense
rs56047316 - 42,830,821(+) CAGCC(A/G)AGCTG reference, missense
rs56025238 - 42,830,851(+) GGCCC(A/G)GGACG reference, missense

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

Variant ID Type Subtype PubMed ID
esv272728 CNV Insertion 20981092
nsv871947 CNV Loss 21882294
nsv870981 CNV Loss 21882294
nsv870684 CNV Loss 21882294

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

HapMap Linkage Disequilibrium report
ERMAP
Human Gene Mutation Database (HGMD)
ERMAP
Blood Group Antigen Gene Mutation Database (BGMUT)
Blood Group System

Disorders for ERMAP Gene

Relevant External Links for ERMAP

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

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. Cloning and characterization of human erythroid membrane-associated protein, human ERMAP. (PMID: 11549310) Xu H. … Schueler P.A. (Genomics 2001) 2 3 4 67
  2. The polymorphism nt 76 in exon 2 of SC is more frequent in whites than in blacks. (PMID: 19856728) Fuchisawa A. … Reid M.E. (Immunohematology 2009) 3 23
  3. STAR: a novel high-prevalence antigen in the Scianna blood group system. (PMID: 15660834) Hue-Roye K. … Reid M.E. (Transfusion 2005) 3 23
  4. SCER and SCAN: two novel high-prevalence antigens in the Scianna blood group system. (PMID: 16371048) Flegel W.A. … Wagner F.F. (Transfusion 2005) 3 23
  5. Scianna antigens including Rd are expressed by ERMAP. (PMID: 12393480) Wagner F.F. … Flegel W.A. (Blood 2003) 3 23

Products for ERMAP Gene

Sources for ERMAP Gene

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