Free for academic non-profit institutions. Other users need a Commercial license

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 BTN1A1.

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 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
GH01G042949 2 FANTOM5 Ensembl ENCODE dbSUPER 12.1 +139.7 139711 15.6 CREB3L1 FEZF1 YY1 ZNF143 SP3 NFYC TBX21 MEF2D ZNF585B GLIS1 SLC2A1-AS1 SLC2A1 RNU6-880P ERMAP LOC101929609 CLDN19 SVBP ENSG00000284138
GH01G042845 1.1 ENCODE 9.8 +29.9 29853 2.4 HDGF PKNOX1 CREB3L1 ARNT MLX ARID4B SIN3A DMAP1 YY1 ZNF766 FOXJ3 ERMAP ZNF691 PIR46792
GH01G042929 2 FANTOM5 Ensembl ENCODE dbSUPER 3.3 +122.3 122258 19.0 HDGF FOXA2 PKNOX1 CREB3L1 ARNT WRNIP1 ARID4B SIN3A FEZF1 ZNF766 SLC2A1-AS1 SZT2 PPIH RNU6-880P FOXJ3 LOC105378687 C1orf210 HYI ERMAP CCDC30
GH01G043709 1.2 FANTOM5 Ensembl ENCODE 5.1 +894.4 894430 3.5 JUN MAX CEBPB EP300 ZSCAN21 FOSL1 JUND GATA2 FOS NFE2L2 ARTN LOC101929592 ATP6V0B ERMAP SZT2 ENSG00000283414 KDM4A-AS1
GH01G042815 1.1 ENCODE 0.7 0.0 -47 2.5 HDGF PKNOX1 FOXA2 MLX SIN3A ARID4B DMAP1 ZNF2 YY1 ZNF143 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 FOXA2 MLX SIN3A ARID4B DMAP1 ZNF2 YY1 ZNF143 KLF13 SP3

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

Post-translational modifications for ERMAP Gene

Other Protein References for ERMAP Gene

Antibody Products

  • Abcam antibodies for ERMAP
  • Santa Cruz Biotechnology (SCBT) Antibodies for ERMAP

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 :
  • Belongs to the immunoglobulin superfamily. BTN/MOG family.
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

Animal Model Products

CRISPR Products

miRNA for ERMAP Gene

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ERMAP

Flow Cytometry Products

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

COMPARTMENTS
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

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

Transcripts for ERMAP Gene

Unigene Clusters for ERMAP Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ERMAP

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 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:

ERMAP

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.

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
Systems:
  • immune
Organs:
General:
  • blood
  • white blood cell
genes like me logo Genes that share expression patterns with ERMAP: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia ERMAP 34 35
  • 99.3 (n)
cow
(Bos Taurus)
Mammalia ERMAP 34
  • 83.67 (n)
dog
(Canis familiaris)
Mammalia ERMAP 34 35
  • 81 (n)
mouse
(Mus musculus)
Mammalia Ermap 34 16 35
  • 76.4 (n)
rat
(Rattus norvegicus)
Mammalia Ermap 34
  • 76.38 (n)
oppossum
(Monodelphis domestica)
Mammalia ERMAP 35
  • 53 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 18 (a)
ManyToMany
African clawed frog
(Xenopus laevis)
Amphibia Xl.14571 34
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

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

ERMAP_HUMAN-Q96PL5
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
esv3308455 CNV mobile element insertion 20981092
esv3337682 CNV insertion 20981092
esv3380077 CNV insertion 20981092
esv3577249 CNV gain 25503493
esv3577827 CNV loss 25503493
esv3577829 CNV loss 25503493
esv3585856 CNV loss 21293372
nsv546110 CNV loss 21841781

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

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. 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 22 46 64
  2. STAR: a novel high-prevalence antigen in the Scianna blood group system. (PMID: 15660834) Hue-Roye K. … Reid M.E. (Transfusion 2005) 3 4 22 64
  3. 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 4 22 64
  4. Scianna antigens including Rd are expressed by ERMAP. (PMID: 12393480) Wagner F.F. … Flegel W.A. (Blood 2003) 3 4 22 64
  5. Cloning and characterization of human erythroid membrane-associated protein, human ERMAP. (PMID: 11549310) Xu H. … Schueler P.A. (Genomics 2001) 2 3 4 64

Products for ERMAP Gene

Sources for ERMAP Gene

Content
Loading form....