ERMAP erythroblast membrane associated protein (Scianna blood group)
Gene ID: 114625, updated on 3-Apr-2024Gene type: protein coding
Also known as: RD; SC; BTN5; PRO2801
- See all available tests in GTR for this gene
- Go to complete Gene record for ERMAP
- Go to Variation Viewer for ERMAP variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Antigen in Scianna blood group system | not available |
Radin blood group | not available |
Genomic context
- Location:
- 1p34.2
- Sequence:
- Chromosome: 1; NC_000001.11 (42817122..42844991)
- Total number of exons:
- 14
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for ERMAP variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- Blood Group Antigen Gene Mutation Database (BGMUT)
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- ERMAP database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.