ERMAP

protein-coding

erythroblast membrane associated protein (Scianna blood group), the group of V-set domain containing|Butyrophilins|Blood group antigens

Gene 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]

Previous symbols:

MANE transcript

NM_001017922.2

Inheritance

ClinVar variants

P:1U:65B:11

Top phenotype

Blood group, Scianna system; Blood group, Radin

gnomAD constraint

pLI —, LoF o/e 0.78

Max pathogenic AF

—

Genomic locus

chr1:42,817,122-42,844,991

External References & Databases

Ensembl (ENSG00000164010)

Transcript & Mutation Effects

hg38 • Region Span ~27.9 kb

Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

Clinical Genomic Database (CGD)

Blood group, Scianna system; Blood group, RadinBG

Manifestation: Hematologic

Intervention: Hematologic

Rationale: Variants associated with a blood group may be important in specific situations (eg, related to transfusion)

Refs: 7998072; 12393480; 15954808

Source: CGD (NHGRI)

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to ERMAP variants in ClinVar

7 Conditions Cataloged

not specifiedTotal: 65

ERMAP-related disorderTotal: 4

not providedTotal: 2

Antigen in Scianna blood group systemTotal: 1

RADIN BLOOD GROUP ANTIGENTotal: 1

SCIANNA BLOOD GROUP SYSTEM, SC:-1,-2Total: 1

SCIANNA BLOOD GROUP SYSTEM, SC:-1,2Total: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001017922.2. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar	4 clinvar	1 clinvar	6
missense			62 clinvar	4 clinvar	2 clinvar	68
nonsense			2 clinvar			2
start loss						0
frameshift	1 clinvar					1
splice donor/acceptor (+/-2bp)						0
Total	1	0	65	8	3	77

Highest pathogenic variant AF is 0.000006573239

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 43 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001017922.2	RefSeq	NP_001017922.1	10	MANE Select
ENST00000372517.8	Ensembl	ENSP00000361595.2	10	MANE Select
NM_018538.4	RefSeq	NP_061008.2	10	Standard
ENST00000372514.7	Ensembl	ENSP00000361592.3	10	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

regulation of immune response
T cell receptor signaling pathway

Molecular Function

signaling receptor binding

Cellular Component

cytoplasm
plasma membrane
external side of plasma membrane
integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000372517
Coding exons: 10
Length: 27866
Individuals with no LoFs: 125670
Homozygous LoFs: 0
Heterozygous LoFs: 78
Defined: 125748
p: 0.000310

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.705	234	266	0.878	0.0000150	3038
Missense (PolyPhen)		77	94.092	0.81835		1122
Synonymous	0.230	105	108	0.972	0.00000600	997
Loss of Function	0.962	17	21.9	0.778	0.00000110	255

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00062	0.00062	rare
Latino/Admixed American	0.00015	0.00014	rare
Ashkenazi Jewish	0.00020	0.00020	rare
East Asian	0.00044	0.00044	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00026	0.00025	rare
South Asian	0.00078	0.00078	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Possible role as a cell-adhesion or receptor molecule of erythroid cells.;

Intolerance Scores

LoFtool: 0.966
RVIS EVS: 0.67
RVIS percentile EVS: 84.64

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.404

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium