ERMAP

Chr 1

erythroblast membrane associated protein (Scianna blood group)

Also known as: BTN5, PRO2801, RD, SC

NCBI Gene: 114625ENSG00000164010UniProt: Q96PL5

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]

Primary Disease Associations & Inheritance

[Blood group, Radin]MIM #111620
[Blood group, Scianna system]MIM #111750
87
ClinVar variants
13
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— ERMAP
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
13 Pathogenic / Likely Pathogenic· 61 VUS of 87 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.17LOEUF
pLI 0.000
Z-score 0.96
OE 0.78 (0.53–1.17)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.71Z-score
OE missense 0.88 (0.79–0.98)
234 obs / 266.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.78 (0.53–1.17)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.88 (0.79–0.98)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.97
0≤1.21.6
LoF obs/exp: 17 / 21.9Missense obs/exp: 234 / 266.4Syn Z: 0.23

ClinVar Variant Classifications

87 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic11
Likely Pathogenic2
VUS61
Likely Benign7
Benign6
11
Pathogenic
2
Likely Pathogenic
61
VUS
7
Likely Benign
6
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
1
0
10
0
11
Likely Pathogenic
0
0
2
0
2
VUS
0
58
3
0
61
Likely Benign
0
4
0
3
7
Benign
0
3
1
2
6
Total16516587

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

ERMAP · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM

[Blood group, Radin]

MIM #111620

Molecular basis of disorder known

[Blood group, Scianna system]

MIM #111750

Molecular basis of disorder known

Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
SCAR: The high-prevalence antigen 013.008 in the Scianna blood group system.
Srivastava K et al.·Transfusion
2021Case report
SCER and SCAN: two novel high-prevalence antigens in the Scianna blood group system.
Flegel WA et al.·Transfusion
2005
Full-length nucleotide sequence of ERMAP alleles encoding Scianna (SC) antigens.
Srivastava K et al.·Transfusion
2016
Scianna antigens including Rd are expressed by ERMAP.
Wagner FF et al.·Blood
2003
Candidate Modifier Genes for the Penetrance of Leber's Hereditary Optic Neuropathy.
Cheng HC et al.·Int J Mol Sci
2022
The phylogeny of 48 alleles, experimentally verified at 21 kb, and its application to clinical allele detection.
Srivastava K et al.·J Transl Med
2019
A Comprehensive Prognostic Analysis of Tumor-Related Blood Group Antigens in Pan-Cancers Suggests That SEMA7A as a Novel Biomarker in Kidney Renal Clear Cell Carcinoma.
Wang Y et al.·Int J Mol Sci
2022
SC*994C>T causes the Sc(null) phenotype in Pacific Islanders and successful transfusion of Sc3+ blood to a patient with anti-Sc3.
Reid ME et al.·Immunohematology
2013Clinical trial
STAR: a novel high-prevalence antigen in the Scianna blood group system.
Hue-Roye K et al.·Transfusion
2005Case report
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools