Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	2038
Gene name Gene Name - the full gene name approved by the HGNC.	Erythrocyte membrane protein band 4.2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	EPB42
Synonyms (NCBI Gene) Gene synonyms aliases	PA, SPH5
Disease Acronyms (UniProt) Disease acronyms from UniProt database	SPH5
Chromosome Chromosome number	15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	15q15.2
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(9)

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

Show/Hide all(16)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000902	Process	Cell morphogenesis	IEA
GO:0003810	Function	Protein-glutamine gamma-glutamyltransferase activity	IBA	21873635
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:0005856	Component	Cytoskeleton	TAS	1350227
GO:0005886	Component	Plasma membrane	IEA
GO:0007010	Process	Cytoskeleton organization	IEA
GO:0008360	Process	Regulation of cell shape	IEA
GO:0018149	Process	Peptide cross-linking	IBA	21873635
GO:0018215	Process	Protein phosphopantetheinylation	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:0055072	Process	Iron ion homeostasis	IEA

MIM	HGNC	e!Ensembl
177070	3381	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

Interactions

View interactions

Show/Hide Causal Diseases (9)

Disease term	Disease name	dbSNP ID	References
Causal
Anemia	Anemia, Hemolytic, Anemia, hereditary spherocytic hemolytic	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966 View all (89 more)	1558976, 7772513, 23664421
Cholelithiasis	Cholelithiasis	rs121918440, rs72552778, rs387906528, rs759202962, rs377160065, rs1051861187, rs757693457, rs752563752
Elliptocytosis	Elliptocytosis, Hereditary	rs121918645, rs863223302, rs863223303, rs1594753904, rs121918647, rs121918648, rs121918650, rs121918634, rs757679761, rs121918637, rs121918638, rs121918640, rs121918641, rs121918642, rs863223305, rs121434564 View all (1 more)	7772513, 1558976
Hereditary spherocytosis	Hereditary spherocytosis	rs137852829, rs137852830, rs137852831, rs397514029, rs786205243, rs121918646, rs121918648, rs121918651, rs863223304, rs267607086, rs754614154, rs266257354, rs121917734, rs266257355, rs115998465 View all (40 more)	23664421
Hyperbilirubinemia	Hyperbilirubinemia	rs34993780, rs587784535, rs797046090, rs797046091
Hypofibrinogenemia	Hypofibrinogenemia	rs121913087, rs121913088, rs587776837, rs121909616, rs121909625, rs121909608, rs121909607, rs146387238, rs1578795296, rs1214070111, rs776817952, rs762964798, rs121909606, rs1414035000, rs1310452604
Restrictive cardiomyopathy	Restrictive cardiomyopathy	rs104894729, rs397516153, rs727503513, rs727503499, rs727503504, rs730880231, rs1554401403, rs1563005534, rs1420394583
Spherocytosis	Spherocytosis, Type 5	rs786205242, rs786205243, rs786205244, rs121918634	8547071, 8547605, 10406914, 1558976, 7772513, 7819064
Thrombophilia	Thrombophilia	rs118203912, rs118203911, rs121918141, rs121918142, rs121918143, rs121918144, rs121918145, rs121918146, rs121918147, rs121918148, rs121918149, rs121918151, rs121918152, rs121918153, rs121918154 View all (56 more)

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Hereditary Spherocytosis	hereditary spherocytosis type 5, hereditary spherocytosis			GenCC

Show/Hide Text Mining Associations (17)

Disease Name	Relationship Type	References
Associations from Text Mining
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

EPB42 (erythrocyte membrane protein band 4.2)