ERMAP (erythroblast membrane associated protein (Scianna blood group))

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Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases Diseases linked via similar genes

Gene

• Entrez ID: 114625
• Gene name: Erythroblast membrane associated protein (Scianna blood group)
• Gene symbol: ERMAP
• Synonyms (NCBI Gene): BTN5, PRO2801, RD, SC
• Chromosome: 1
• Chromosome location: 1p34.2
• 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 transcri

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs56025238	G>A,C	Pathogenic, likely-benign	Coding sequence variant, missense variant
rs56047316	G>A	Affects	Coding sequence variant, missense variant
rs56136737	C>G,T	Affects	Coding sequence variant, missense variant
rs387906265	GA>-	Pathogenic	Coding sequence variant, frameshift variant

miRNA Show/Hide all (101)

miRTarBase ID	miRNA	Experiments	Reference
MIRT709976	hsa-miR-3199	HITS-CLIP	19536157
MIRT709975	hsa-miR-8052	HITS-CLIP	19536157
MIRT709974	hsa-miR-365a-5p	HITS-CLIP	19536157
MIRT709973	hsa-miR-365b-5p	HITS-CLIP	19536157
MIRT709976	hsa-miR-3199	HITS-CLIP	19536157
MIRT709975	hsa-miR-8052	HITS-CLIP	19536157
MIRT709974	hsa-miR-365a-5p	HITS-CLIP	19536157
MIRT709973	hsa-miR-365b-5p	HITS-CLIP	19536157
MIRT709976	hsa-miR-3199	HITS-CLIP	19536157
MIRT709975	hsa-miR-8052	HITS-CLIP	19536157
MIRT709974	hsa-miR-365a-5p	HITS-CLIP	19536157
MIRT709973	hsa-miR-365b-5p	HITS-CLIP	19536157
MIRT709976	hsa-miR-3199	HITS-CLIP	19536157
MIRT709975	hsa-miR-8052	HITS-CLIP	19536157
MIRT709974	hsa-miR-365a-5p	HITS-CLIP	19536157
MIRT709973	hsa-miR-365b-5p	HITS-CLIP	19536157
MIRT709976	hsa-miR-3199	HITS-CLIP	19536157
MIRT709975	hsa-miR-8052	HITS-CLIP	19536157
MIRT709974	hsa-miR-365a-5p	HITS-CLIP	19536157
MIRT709973	hsa-miR-365b-5p	HITS-CLIP	19536157
MIRT709976	hsa-miR-3199	HITS-CLIP	19536157
MIRT709975	hsa-miR-8052	HITS-CLIP	19536157
MIRT709974	hsa-miR-365a-5p	HITS-CLIP	19536157
MIRT709973	hsa-miR-365b-5p	HITS-CLIP	19536157
MIRT969461	hsa-miR-1255a	CLIP-seq
MIRT969462	hsa-miR-1255b	CLIP-seq
MIRT969463	hsa-miR-1827	CLIP-seq
MIRT969464	hsa-miR-320a	CLIP-seq
MIRT969465	hsa-miR-320b	CLIP-seq
MIRT969466	hsa-miR-320c	CLIP-seq
MIRT969467	hsa-miR-320d	CLIP-seq
MIRT969468	hsa-miR-3616-3p	CLIP-seq
MIRT969469	hsa-miR-4429	CLIP-seq
MIRT969470	hsa-miR-4436b-3p	CLIP-seq
MIRT969471	hsa-miR-4721	CLIP-seq
MIRT969472	hsa-miR-1182	CLIP-seq
MIRT969473	hsa-miR-1285	CLIP-seq
MIRT969474	hsa-miR-1290	CLIP-seq
MIRT969475	hsa-miR-18a	CLIP-seq
MIRT969476	hsa-miR-18b	CLIP-seq
MIRT969477	hsa-miR-219-5p	CLIP-seq
MIRT969478	hsa-miR-30a	CLIP-seq
MIRT969479	hsa-miR-30b	CLIP-seq
MIRT969480	hsa-miR-30c	CLIP-seq
MIRT969481	hsa-miR-30d	CLIP-seq
MIRT969482	hsa-miR-30e	CLIP-seq
MIRT969483	hsa-miR-3159	CLIP-seq
MIRT969484	hsa-miR-3167	CLIP-seq
MIRT969485	hsa-miR-3180-5p	CLIP-seq
MIRT969486	hsa-miR-3187-5p	CLIP-seq
MIRT969487	hsa-miR-3613-5p	CLIP-seq
MIRT969488	hsa-miR-378g	CLIP-seq
MIRT969489	hsa-miR-3940-5p	CLIP-seq
MIRT969490	hsa-miR-3974	CLIP-seq
MIRT969491	hsa-miR-4445	CLIP-seq
MIRT969492	hsa-miR-4486	CLIP-seq
MIRT969493	hsa-miR-4507	CLIP-seq
MIRT969494	hsa-miR-4640-5p	CLIP-seq
MIRT969495	hsa-miR-4726-5p	CLIP-seq
MIRT969496	hsa-miR-4735-3p	CLIP-seq
MIRT969497	hsa-miR-4742-3p	CLIP-seq
MIRT969498	hsa-miR-4781-3p	CLIP-seq
MIRT969499	hsa-miR-4782-3p	CLIP-seq
MIRT969500	hsa-miR-4782-5p	CLIP-seq
MIRT969501	hsa-miR-493	CLIP-seq
MIRT969502	hsa-miR-508-3p	CLIP-seq
MIRT969503	hsa-miR-612	CLIP-seq
MIRT969504	hsa-miR-659	CLIP-seq
MIRT969505	hsa-miR-665	CLIP-seq
MIRT969506	hsa-miR-876-5p	CLIP-seq
MIRT969477	hsa-miR-219-5p	CLIP-seq
MIRT969485	hsa-miR-3180-5p	CLIP-seq
MIRT969491	hsa-miR-4445	CLIP-seq
MIRT969499	hsa-miR-4782-3p	CLIP-seq
MIRT969502	hsa-miR-508-3p	CLIP-seq
MIRT969504	hsa-miR-659	CLIP-seq
MIRT969505	hsa-miR-665	CLIP-seq
MIRT1987335	hsa-miR-1910	CLIP-seq
MIRT1987336	hsa-miR-1914	CLIP-seq
MIRT1987337	hsa-miR-2682	CLIP-seq
MIRT1987338	hsa-miR-3714	CLIP-seq
MIRT1987339	hsa-miR-449c	CLIP-seq
MIRT1987340	hsa-miR-548an	CLIP-seq
MIRT2221776	hsa-miR-151-3p	CLIP-seq
MIRT2221777	hsa-miR-2117	CLIP-seq
MIRT2221778	hsa-miR-2276	CLIP-seq
MIRT2221779	hsa-miR-3166	CLIP-seq
MIRT2221780	hsa-miR-3653	CLIP-seq
MIRT2221781	hsa-miR-3909	CLIP-seq
MIRT2221782	hsa-miR-4270	CLIP-seq
MIRT2221783	hsa-miR-4441	CLIP-seq
MIRT2221784	hsa-miR-4463	CLIP-seq
MIRT2221785	hsa-miR-4488	CLIP-seq
MIRT2221786	hsa-miR-4494	CLIP-seq
MIRT2221787	hsa-miR-4499	CLIP-seq
MIRT2221788	hsa-miR-4515	CLIP-seq
MIRT2221789	hsa-miR-4697-5p	CLIP-seq
MIRT2221790	hsa-miR-4771	CLIP-seq
MIRT2221791	hsa-miR-4772-3p	CLIP-seq
MIRT2221792	hsa-miR-637	CLIP-seq
MIRT2221793	hsa-miR-891b	CLIP-seq

Gene ontology (GO) Show/Hide all (11)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001817	Process	Regulation of cytokine production	IBA
GO:0005102	Function	Signaling receptor binding	IBA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IDA
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IDA	11549310
GO:0005886	Component	Plasma membrane	IEA
GO:0009897	Component	External side of plasma membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0050852	Process	T cell receptor signaling pathway	IBA

Other IDs

• MIM: 609017
• HGNC: 15743
• e!Ensembl: ENSG00000164010

Protein

• UniProt ID: Q96PL5
• Protein name: Erythroid membrane-associated protein (hERMAP) (Radin blood group antigen) (Scianna blood group antigen)
• Protein function: Possible role as a cell-adhesion or receptor molecule of erythroid cells.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00622	SPRY	292 → 401	SPRY domain	Family
  PF07686	V-set	38 → 144	Immunoglobulin V-set domain	Domain
  PF13765	PRY	240 → 288	SPRY-associated domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in erythroid-enriched bone marrow (at protein level). Highly expressed in bone marrow and to a lower extent in leukocytes, thymus, lymph node and spleen. {ECO:0000269|PubMed:11549310, ECO:0000269|PubMed:11783959}.
• Sequence:

  MEMASSAGSWLSGCLIPLVFLRLSVHVSGHAGDAGKFHVALLGGTAELLCPLSLWPGTVP
  KEVRWLRSPFPQRSQAVHIFRDGKDQDEDLMPEYKGRTVLVRDAQEGSVTLQILDVRLED
  QGSYRCLIQVGNLSKEDTVILQVAAPSVGSLSPSAVALAVILPVLVLLIMVCLCLIWKQR
  RAKEKLLYEHVTEVDNLLSDHAKEKGKLHKAVKKLRSELKLKRAAANSGWRRARLHFVAV
  TLDPDTAHPKLILSEDQRCVRLGDRRQPVPDNPQRFDFVVSILGSEYFTTGCHYWEVYVG
  DKTKWILGVCSESVSRKGKVTASPANGHWLLRQSRGNEYEALTSPQTSFRLKEPPRCVGI
  FLDYEAGVISFYNVTNKSHIFTFTHNFSGPLRPFFEPCLHDGGKNTAPLVICSELHKSEE
  SIVPRPEGKGHANGDVSLKVNSSLLPPKAPELKDIILSLPPDLGPALQELKAPSF

• Sequence length: 475

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
SCIANNA BLOOD GROUP SYSTEM, SC:-1,-2	Pathogenic	rs387906265	RCV000001992	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (10)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Antigen in Scianna blood group system	Affects	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Uncertain significance; Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ERMAP-related disorder	Likely benign; Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RADIN BLOOD GROUP ANTIGEN	Affects	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCIANNA BLOOD GROUP SYSTEM, SC:-1,2	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	35955933	Associate	★☆☆☆☆ Found in Text Mining only

Related Genes

No strongly related genes found yet for ERMAP.

Diseases Linked via Similar Genes

No additional diseases found yet through genes similar to ERMAP.