• Gene id: 2038

Gene Summary

• Gene Symbol: EPB42   Gene   UCSC   Ensembl
• Aliases: PA, SPH5
• Gene name: erythrocyte membrane protein band 4.2
• Alternate names: erythrocyte membrane protein band 4.2, P4.2, erythrocyte protein 4.2, erythrocyte surface protein band 4.2,
• Gene location: 15q15.2 (43225855: 43197226)     Exons: 16     NC_000015.10
• Gene summary(Entrez): 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
• OMIM: 177070

Protein Summary

• Protein general information: P16452  
  • Name: Erythrocyte membrane protein band 4.2 (Erythrocyte protein 4.2) (P4.2)
  • Length: 691  
  • Mass: 77009
• Sequence:

  MGQALGIKSCDFQAARNNEEHHTKALSSRRLFVRRGQPFTIILYFRAPVRAFLPALKKVALTAQTGEQPSKINRT
  QATFPISSLGDRKWWSAVVEERDAQSWTISVTTPADAVIGHYSLLLQVSGRKQLLLGQFTLLFNPWNREDAVFLK
  NEAQRMEYLLNQNGLIYLGTADCIQAESWDFGQFEGDVIDLSLRLLSKDKQVEKWSQPVHVARVLGALLHFLKEQ
  RVLPTPQTQATQEGALLNKRRGSVPILRQWLTGRGRPVYDGQAWVLAAVACTVLRCLGIPARVVTTFASAQGTGG
  RLLIDEYYNEEGLQNGEGQRGRIWIFQTSTECWMTRPALPQGYDGWQILHPSAPNGGGVLGSCDLVPVRAVKEGT
  LGLTPAVSDLFAAINASCVVWKCCEDGTLELTDSNTKYVGNNISTKGVGSDRCEDITQNYKYPEGSLQEKEVLER
  VEKEKMEREKDNGIRPPSLETASPLYLLLKAPSSLPLRGDAQISVTLVNHSEQEKAVQLAIGVQAVHYNGVLAAK
  LWRKKLHLTLSANLEKIITIGLFFSNFERNPPENTFLRLTAMATHSESNLSCFAQEDIAICRPHLAIKMPEKAEQ
  YQPLTASVSLQNSLDAPMEDCVISILGRGLIHRERSYRFRSVWPENTMCAKFQFTPTHVGLQRLTVEVDCNMFQN
  LTNYKSVTVVAPELSA

• Structural information:
  • Interpro: IPR013783  IPR014756  IPR038765  IPR002931  IPR036985   IPR023608  IPR013808  IPR008958  IPR036238  IPR001102  
  • Prosite: PS00547
  • STRING: ENSP00000300215
• Other Databases: GeneCards:  EPB42  Malacards:  EPB42

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0018149	peptide cross-linking	IBA	biological process
GO:0003810	protein-glutamine gamma-glutamyltransferase activity	IBA	molecular function
GO:0003810	protein-glutamine gamma-glutamyltransferase activity	IEA	molecular function
GO:0018149	peptide cross-linking	IEA	biological process
GO:0008360	regulation of cell shape	IEA	biological process
GO:0043249	erythrocyte maturation	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005200	structural constituent of cytoskeleton	TAS	molecular function
GO:0005524	ATP binding	TAS	molecular function
GO:0005856	cytoskeleton	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0020027	hemoglobin metabolic process	IEA	biological process
GO:0000902	cell morphogenesis	IEA	biological process
GO:0055072	iron ion homeostasis	IEA	biological process
GO:0050801	ion homeostasis	IEA	biological process
GO:0048536	spleen development	IEA	biological process
GO:0030863	cortical cytoskeleton	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0007010	cytoskeleton organization	IEA	biological process

Diseases

Associated diseases	References
Hereditary spherocytosis	KEGG:H00230
Hereditary spherocytosis	KEGG:H00230
hereditary spherocytosis	PMID:1558976
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881