• Gene id: 114625

Gene Summary

• Gene Symbol: ERMAP   Gene   UCSC   Ensembl
• Aliases: BTN5, PRO2801, RD, SC
• Gene name: erythroblast membrane associated protein (Scianna blood group)
• Alternate names: erythroid membrane-associated protein, Radin blood group (Rd), Scianna blood group (Sc), radin blood group antigen, scianna blood group antigen,
• Gene location: 1p34.2 (42817121: 42844990)     Exons: 13     NC_000001.11
• Gene summary(Entrez): 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 transcri
• OMIM: 150370

Protein Summary

• Protein general information: Q96PL5  
  • Name: Erythroid membrane associated protein (hERMAP) (Radin blood group antigen) (Scianna blood group antigen)
  • Length: 475  
  • Mass: 52605
  • 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. {ECO
• Sequence:

  MEMASSAGSWLSGCLIPLVFLRLSVHVSGHAGDAGKFHVALLGGTAELLCPLSLWPGTVPKEVRWLRSPFPQRSQ
  AVHIFRDGKDQDEDLMPEYKGRTVLVRDAQEGSVTLQILDVRLEDQGSYRCLIQVGNLSKEDTVILQVAAPSVGS
  LSPSAVALAVILPVLVLLIMVCLCLIWKQRRAKEKLLYEHVTEVDNLLSDHAKEKGKLHKAVKKLRSELKLKRAA
  ANSGWRRARLHFVAVTLDPDTAHPKLILSEDQRCVRLGDRRQPVPDNPQRFDFVVSILGSEYFTTGCHYWEVYVG
  DKTKWILGVCSESVSRKGKVTASPANGHWLLRQSRGNEYEALTSPQTSFRLKEPPRCVGIFLDYEAGVISFYNVT
  NKSHIFTFTHNFSGPLRPFFEPCLHDGGKNTAPLVICSELHKSEESIVPRPEGKGHANGDVSLKVNSSLLPPKAP
  ELKDIILSLPPDLGPALQELKAPSF

• Structural information:
  • Protein Domains: (30..14-)
    (/note="Ig-like-V-type)
    (220..41-)
    (/note="B30.2/SPRY-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00548"-)
  • Interpro: IPR001870  IPR003879  IPR013320  IPR007110  IPR036179   IPR013783  IPR003599  IPR013106  IPR006574  IPR003877  
  • Prosite: PS50188 PS50835
  • STRING: ENSP00000361595
• Other Databases: GeneCards:  ERMAP  Malacards:  ERMAP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001817	regulation of cytokine production	IBA	biological process
GO:0050776	regulation of immune response	IBA	biological process
GO:0005102	signaling receptor binding	IBA	molecular function
GO:0009897	external side of plasma membrane	IBA	cellular component
GO:0050852	T cell receptor signaling pathway	IBA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0001817	regulation of cytokine production	IBA	biological process
GO:0050776	regulation of immune response	IBA	biological process
GO:0005102	signaling receptor binding	IBA	molecular function
GO:0009897	external side of plasma membrane	IBA	cellular component
GO:0050852	T cell receptor signaling pathway	IBA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881