EPB42 (erythrocyte membrane protein band 4.2)

Gene

• Entrez ID: 2038
• Gene name: Erythrocyte membrane protein band 4.2
• Gene symbol: EPB42
• Synonyms (NCBI Gene): PA, SPH5
• Chromosome: 15
• Chromosome location: 15q15.2
• Summary: Erythrocyte membrane protein band 4.2 is an ATP-binding protein which may regulate the association of protein 3 with ankyrin. It probably has a role in erythrocyte shape and mechanical property regulation. Mutations in the EPB42 gene are associated with r

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs115998465	C>A,G	Pathogenic	Missense variant, coding sequence variant, stop gained
rs121917734	C>T	Pathogenic	Missense variant, coding sequence variant
rs143682977	C>A,G	Pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs266257354	C>-	Pathogenic	Coding sequence variant, upstream transcript variant, genic upstream transcript variant, frameshift variant
rs266257355	C>T	Pathogenic	Splice donor variant
rs515726211	G>A	Pathogenic	Coding sequence variant, missense variant
rs515726212	G>A	Pathogenic	Coding sequence variant, missense variant
rs515726213	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs768899304	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, coding sequence variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000902	Process	Cell morphogenesis	IEA
GO:0003810	Function	Protein-glutamine gamma-glutamyltransferase activity	IBA
GO:0003810	Function	Protein-glutamine gamma-glutamyltransferase activity	IEA
GO:0005200	Function	Structural constituent of cytoskeleton	TAS	1350227
GO:0005515	Function	Protein binding	IPI	12646258, 12970870, 32814053
GO:0005524	Function	ATP binding	TAS	8608138
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005856	Component	Cytoskeleton	TAS	1350227
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	1350227
GO:0007010	Process	Cytoskeleton organization	IEA
GO:0008360	Process	Regulation of cell shape	IEA
GO:0016020	Component	Membrane	IEA
GO:0020027	Process	Hemoglobin metabolic process	IEA
GO:0030863	Component	Cortical cytoskeleton	IEA
GO:0043249	Process	Erythrocyte maturation	IEA
GO:0048536	Process	Spleen development	IEA
GO:0050801	Process	Monoatomic ion homeostasis	IEA
GO:0060586	Process	Multicellular organismal-level iron ion homeostasis	IEA
GO:0071944	Component	Cell periphery	IEA
GO:0170014	Component	Ankyrin-1 complex	IDA	35835865

Other IDs

• MIM: 177070
• HGNC: 3381
• e!Ensembl: ENSG00000166947

Protein

• UniProt ID: P16452
• Protein name: Protein 4.2 (P4.2) (Erythrocyte membrane protein band 4.2) (Erythrocyte protein 4.2)
• Protein function: Component of the ankyrin-1 complex, a multiprotein complex involved in the stability and shape of the erythrocyte membrane.
• PDB: 7TVZ, 7TW0, 7TW1, 7TW3, 7TW5, 7TW6, 7UZS, 7V0K, 7V0Q, 8CS9, 8CSL, 8CSW, 8CTE
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00868	Transglut_N	4 → 124	Transglutaminase family	Domain
  PF01841	Transglut_core	224 → 351	Transglutaminase-like superfamily	Family
  PF00927	Transglut_C	475 → 580	Transglutaminase family, C-terminal ig like domain	Domain
  PF00927	Transglut_C	588 → 686	Transglutaminase family, C-terminal ig like domain	Domain

• Sequence:

  MGQALGIKSCDFQAARNNEEHHTKALSSRRLFVRRGQPFTIILYFRAPVRAFLPALKKVA
  LTAQTGEQPSKINRTQATFPISSLGDRKWWSAVVEERDAQSWTISVTTPADAVIGHYSLL
  LQVSGRKQLLLGQFTLLFNPWNREDAVFLKNEAQRMEYLLNQNGLIYLGTADCIQAESWD
  FGQFEGDVIDLSLRLLSKDKQVEKWSQPVHVARVLGALLHFLKEQRVLPTPQTQATQEGA
  LLNKRRGSVPILRQWLTGRGRPVYDGQAWVLAAVACTVLRCLGIPARVVTTFASAQGTGG
  RLLIDEYYNEEGLQNGEGQRGRIWIFQTSTECWMTRPALPQGYDGWQILHPSAPNGGGVL
  GSCDLVPVRAVKEGTLGLTPAVSDLFAAINASCVVWKCCEDGTLELTDSNTKYVGNNIST
  KGVGSDRCEDITQNYKYPEGSLQEKEVLERVEKEKMEREKDNGIRPPSLETASPLYLLLK
  APSSLPLRGDAQISVTLVNHSEQEKAVQLAIGVQAVHYNGVLAAKLWRKKLHLTLSANLE
  KIITIGLFFSNFERNPPENTFLRLTAMATHSESNLSCFAQEDIAICRPHLAIKMPEKAEQ
  YQPLTASVSLQNSLDAPMEDCVISILGRGLIHRERSYRFRSVWPENTMCAKFQFTPTHVG
  LQRLTVEVDCNMFQNLTNYKSVTVVAPELSA

• Sequence length: 691

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Hereditary spherocytosis type 5	Likely pathogenic; Pathogenic	rs777764528, rs143682977, rs266257354, rs121917734, rs266257355, rs115998465, rs2142263398, rs772330879, rs2142314789	RCV001781040 RCV000119050 RCV000033190 RCV000014140 RCV000014141 RCV000014142 RCV003639378 RCV001534608 RCV001534609

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
EPB42-related disorder	Conflicting classifications of pathogenicity; Likely benign; Uncertain significance	rs149419129, rs150481419, rs104894487, rs2542565866, rs200820078, rs201674874, rs180830933, rs148871144, rs149742998	RCV003936347 RCV003891833 RCV003415697 RCV003949556 RCV003944750 RCV003920326 RCV003897725 RCV003396577 RCV003928719
Spherocytosis, Recessive	Uncertain significance; Conflicting classifications of pathogenicity	rs886051165, rs886051170, rs749454815, rs192614362, rs761030391, rs142168493	RCV000288097 RCV000308808 RCV000284558 RCV000398814 RCV000298082 RCV000343244

Associations from Text Mining
Disease Name	Relationship Type	References
Anemia	Associate	1689063
Anemia Hemolytic	Associate	1729896, 19508687
Carcinoma Squamous Cell	Inhibit	25402211
Coronary Restenosis	Associate	35144391
Elliptocytosis 1	Associate	19508687
Fabry Disease	Associate	19508687
Leukemia Myeloid Acute	Associate	28793301, 35003895
Lupus Erythematosus Systemic	Associate	39596553
Neoplasms	Inhibit	26081906
Oncogene Addiction	Associate	11278725
Ovarian Neoplasms	Associate	26824454
Primary Myelofibrosis	Associate	34238135, 34633991
Prostatic Neoplasms	Associate	17531530
Protein Deficiency	Associate	20179084, 9401060
Spherocytosis Hereditary	Associate	12176912, 20179084, 31122244, 37385619, 38069343
Spherocytosis Type 4	Associate	12176912
Squamous Cell Carcinoma of Head and Neck	Associate	19089912