ERMAP (erythroblast membrane associated protein (Scianna blood group))

2003-12-01  

Identity

HGNC
LOCATION
1p34.2
LOCUSID
ALIAS
BTN5,PRO2801,RD,SC
FUSION GENES

Other Information

Locus ID:

NCBI: 114625
MIM: 609017
HGNC: 15743
Ensembl: ENSG00000164010

Variants:

dbSNP: 114625
ClinVar: 114625
TCGA: ENSG00000164010
COSMIC: ERMAP

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000164010ENST00000372514Q96PL5
ENSG00000164010ENST00000372514A0A1C9HIH9
ENSG00000164010ENST00000372517Q96PL5
ENSG00000164010ENST00000372517A0A1C9HIH9
ENSG00000164010ENST00000645239A0A2R8YH65

Expression (GTEx)

0
5
10
15
20

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
115493102001Cloning and characterization of human erythroid membrane-associated protein, human ERMAP.7
123934802003Scianna antigens including Rd are expressed by ERMAP.7
157833002005ABO, Rh, MNS, Duffy, Kidd,Yt, Scianna, and Colton blood group systems in indigenous Chinese.6
255822712015Erythrocyte genotyping for transfusion-dependent patients at the Azienda Universitaria Policlinico of Naples.5
117839592001Human ERMAP: an erythroid adhesion/receptor transmembrane protein.4
184266592008[Expression of human ermap gene in umbilical cord blood mononuclear cells during differentiation and development towards erythroid lineage].1
198567282009The polymorphism nt 76 in exon 2 of SC is more frequent in whites than in blacks.1
240942392013SC*994C>T causes the Sc(null) phenotype in Pacific Islanders and successful transfusion of Sc3+ blood to a patient with anti-Sc3.1

Citation

Dessen P

ERMAP (erythroblast membrane associated protein (Scianna blood group))

Atlas Genet Cytogenet Oncol Haematol. 2003-12-01

Online version: http://atlasgeneticsoncology.org/gene/40487/ermap