ERMAP

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

Basic information

Region (hg38): 1:42817122-42844991

Previous symbols: [ "RD", "SC" ]

Links

ENSG00000164010 ∙ NCBI:114625 ∙ OMIM:609017 ∙ HGNC:15743 ∙ Uniprot:Q96PL5 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Blood group, Scianna system; Blood group, Radin	BG	Hematologic	Variants associated with a blood group may be important in specific situations (eg, related to transfusion)	Hematologic	7998072; 12393480; 15954808

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ERMAP gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ERMAP gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				3	2	5
missense			18	2	3	23
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					1	1
Total	0	0	18	5	6

Variants in ERMAP

This is a list of pathogenic ClinVar variants found in the ERMAP region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
1-42830447-G-A		ERMAP-related disorder	Benign (Oct 21, 2019)
1-42830459-C-T			Benign (Feb 25, 2018)
1-42830474-C-A		not specified	Uncertain significance (Jul 29, 2023)
1-42830498-C-G		not specified	Uncertain significance (Apr 23, 2024)
1-42830498-C-T		not specified	Uncertain significance (Nov 20, 2023)
1-42830502-C-T		ERMAP-related disorder	Benign (Oct 21, 2019)
1-42830503-G-A		not specified	Likely benign (Feb 11, 2022)
1-42830524-C-T		ERMAP-related disorder	Benign (Oct 21, 2019)
1-42830821-G-A		Antigen in Scianna blood group system	Affects (Feb 01, 2005)
1-42830851-G-A		SCIANNA BLOOD GROUP SYSTEM, SC:-1,2 • not specified	Likely benign (Jan 01, 2019)
1-42830860-C-G		Radin blood group	Affects (Jan 15, 2003)
1-42830867-A-C		not specified	Uncertain significance (Aug 15, 2023)
1-42830867-A-T		not specified	Uncertain significance (Jan 09, 2023)
1-42830899-C-T		ERMAP-related disorder	Benign (Feb 01, 2021)
1-42830901-C-T			Benign (Feb 25, 2018)
1-42830906-A-G		not specified	Uncertain significance (Jun 18, 2021)
1-42830912-T-A		not specified	Uncertain significance (Dec 15, 2023)
1-42830933-A-C		not specified	Uncertain significance (Jul 25, 2023)
1-42830984-TGA-T		SCIANNA BLOOD GROUP SYSTEM, SC:-1,-2	Pathogenic (Jan 15, 2003)
1-42831002-G-A		not specified	Uncertain significance (Jun 16, 2023)
1-42831014-T-C		not specified	Uncertain significance (Dec 17, 2023)
1-42831028-G-A		not specified	Uncertain significance (Apr 24, 2024)
1-42831096-C-T		ERMAP-related disorder	Likely benign (Feb 20, 2019)
1-42831102-C-G		not specified	Uncertain significance (Mar 20, 2024)
1-42840275-A-G		not specified	Uncertain significance (May 30, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ERMAP	protein_coding	protein_coding	ENST00000372517	10	27866

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.91e-10	0.370	125670	0	78	125748	0.000310

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.705	234	266	0.878	0.0000150	3038
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000763	0.000764
Ashkenazi Jewish	0.000198	0.000198
East Asian	0.000437	0.000435
Finnish	0.00	0.00
European (Non-Finnish)	0.000256	0.000255
Middle Eastern	0.000437	0.000435
South Asian	0.000785	0.000784
Other	0.00	0.00

dbNSFP

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

Haploinsufficiency Scores

• pHI: 0.367
• hipred: N
• hipred_score: 0.148
• ghis: 0.431

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.404

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ermap

Gene ontology

• Biological process: regulation of immune response;T cell receptor signaling pathway
• Cellular component: cytoplasm;plasma membrane;external side of plasma membrane;integral component of membrane
• Molecular function: signaling receptor binding