ERMAP

Chr 1

erythroblast membrane associated protein (Scianna blood group)

Also known as: BTN5, PRO2801, RD, SC

NCBI Gene: 114625ENSG00000164010UniProt: Q96PL5OMIM: 609017

The protein encoded by ERMAP is a cell surface transmembrane protein that functions as an erythroid cell receptor and mediates cell adhesion. Mutations in this gene are responsible for polymorphisms in the Scianna/Radin blood group system. The gene shows very low constraint against loss-of-function variants, consistent with its role in blood group determination rather than essential cellular functions.

OMIMResearchSummary from RefSeq, OMIM, UniProt
MultiplemechanismLOEUF 1.172 OMIM phenotypes
Clinical Summary— ERMAP
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
13 unique Pathogenic / Likely Pathogenic· 62 VUS of 101 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
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
0.71Z-score
OE missense 0.88 (0.79–0.98)
234 obs / 266.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.78 (0.53–1.17)
0≤0.351.4
Missense OE0.88 (0.79–0.98)
0≤0.61.4
Synonymous OE0.97
0≤1.21.6
LoF obs/exp: 17 / 21.9Missense obs/exp: 234 / 266.4Syn Z: 0.23
DN
0.7325th %ile
GOF
0.72top 25%
LOF
0.2679th %ile

This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.

DNprediction above median
GOFprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

101 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic11
Likely Pathogenic2
VUS62
Likely Benign7
Benign6
11
Pathogenic
2
Likely Pathogenic
62
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
59
3
0
62
Likely Benign
0
4
0
3
7
Benign
0
3
1
2
6
Total16616588

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.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 4 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients