EPB42 - erythrocyte membrane protein band 4.2 Gene

Also Known as PA; SPH5

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2038

About EPB42

Cytogenetic location: 15q15.2 Genomic coordinates (GRCh38): 15:43,197,227-43,225,737 (from NCBI)

This gene has 6 transcripts (splice variants), 123 orthologues, 8 paralogues and is associated with 2 phenotypes. Restricted expression toward bone marrow (RPKM 26.6).

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 recessive spherocytic elliptocytosis and recessively transmitted hereditary hemolytic anemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

EPB42 Products (2)

mRNA	Protein	Name
NM_000119.3	NP_000110.2	protein 4.2 isoform 1
NM_001114134.2	NP_001107606.1	protein 4.2 isoform 2

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	12646258	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of ankyrin-1 complex	IDA IDA: Inferred from direct assay	35835865	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

EPB42 Protein Structure

Transglut_N

Transglut_core

Transglut_C

0
200
400
600
691 a.a.

Protein Preferred Names	Protein Names
protein 4.2	P4.2

EPB42 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	EPB42	P16452	SPINK7	Homo sapiens	P58062	Y2H	12970870

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Spherocytosis, Type 5	Hereditary Spherocytosis Type 5 SPH5 Hs5 Spherocytosis, Hereditary, 5 Hereditary Spherocytosis 5 Spherocytosis 5 Spherocytosis, Hereditary, Type 5
Hereditary Spherocytosis	Congenital Spherocytic Hemolytic Anemia Spherocytic Anemia Congenital Spherocytosis Spherocytosis, Type 1 Minkowski Chauffard Syndrome Hs Minkowski-Chauffard Disease Minkowski-Chauffard Syndrome Spherocytosis Hereditary Spherocytosis, Hereditary Anemia, Hereditary Spherocytic Hemolytic
Hemolytic Anemia	Anemia, Hemolytic Anemia Hemolytic Anaemia Due To Other Disorders Of Glutathione Metabolism Chronic Non Spherocytic Anaemia G6pd - [Glucose-6-Phosphate Dehydrogenase Deficiency] Anaemia Anaemia Due To Glucose-6-Phosphate Dehydrogenase Deficiency Glucose-6-Phosphate Dehydrogenase Deficiency With Anaemia Glucose-6-Phosphate Dehydrogenase Deficiency Anaemia Favism Anaemia Haemolytic Anaemia Due Tog6pd Deficiency Favism Pentose Phosphate Pathway Disorder Anaemia Anaemia Due To Pentose Phosphate Pathway Defect
Anemia, Congenital Dyserythropoietic, Type Ia	Congenital Dyserythropoietic Anemia Type I Cda I CDAN1A Congenital Dyserythropoietic Anemia Type 1 Congenital Dyserythropoietic Anemia Type Ia Congenital Dyserythropoietic Anemia, Type I Anemia, Congenital Dyserythropoietic, Type I Cda Type 1 Cda Type I Cda Ia Dyserythropoietic Anemia, Congenital Type 1 Anemia, Congenital Dyserythropoietic, Type 1a Dyserythropoietic Anemia, Congenital, Type Ia Cda, Type Ia Congenital Dyserythropoietic Anaemia Type 1 Congenital Dyserythropoietic Anaemia Type I Anemia, Dyserythropoietic, Congenital Type 1 Type I Congenital Dyserythropoietic Anemia Anemia, Congenital Dyserythropoietic, 1a Anemia, Dyserythropoietic, Congenital, Type Ia
Overhydrated Hereditary Stomatocytosis	Ohs Potassium Sodium Disorder Of Erythrocyte OHST Stomatocytosis I Potassium-Sodium Disorder Of Erythrocyte Stomatocytosisiohst Hereditary, Overhydrated, Cation-Leak Stomatocytosis Overhydrated Cation Leak Stomatocytosis Stomatocytosis, Overhydrated Hereditary
Anemia, Congenital Dyserythropoietic, Type Iiia	Congenital Dyserythropoietic Anemia, Type Iii Cdan3 Congenital Dyserythropoietic Anemia Type Iii Cda Iii Congenital Dyserythropoietic Anemia Type 3 CDAN3A Dyserythropoietic Anemia, Congenital, Type Iiia Cda, Type Iiia Anemia, Congenital Dyserythropoietic, Type Iii Anemia With Multinucleated Erythroblasts Cda Type 3 Cda Type Iii Dyserythropoietic Anemia, Congenital Type 3 Cda, Type Iii Erythroreticulosis, Hereditary Benign Anaemia With Multinucleated Erythroblasts Congenital Dyserythropoietic Anaemia Type 3 Congenital Dyserythropoietic Anaemia Type Iii Hereditary Benign Erythroreticulosis Anemia, Congenital Dyserythropoietic, 3a Anemia With Multinucleated Erythroblasts Erythroreticulosis, Hereditary Benign
Anemia, Congenital Dyserythropoietic, Type Iv	CDAN4 Congenital Dyserythropoietic Anemia Type Iv Congenital Dyserythropoietic Anemia Type 4 Cda Iv Cda Due To Klf1 Mutation Cda Type 4 Cda Type Iv Congenital Dyserythropoietic Anemia Due To Klf1 Mutation Cda, Type Iv Dyserythropoietic Anemia, Congenital, Type Iv Congenital Dyserythropoietic Anaemia Due To Klf1 Mutation Congenital Dyserythropoietic Anaemia Type 4 Congenital Dyserythropoietic Anaemia Type Iv Anemia, Congenital Dyserythropoietic, 4 Anemia, Dyserythropoietic Congenital, Type Iv Anemia, Dyserythropoietic, Congenital, Type Iv
Hereditary Elliptocytosis	Congenital Elliptocytosis Ovalocytosis Elliptocytosis, Hereditary He Elliptocytosis Hereditary Congenital Ovalocytosis Elliptocytosis Hereditary Elliptocytosis With Infantile Poikilocytosis Hereditary Ovalocytosis Oval Erythrocytosis He - [Hereditary Elliptocytosis] Elliptocytosis Anaemia
Congenital Hemolytic Anemia	Anemia Hemolytic Congenital Anemia, Hemolytic, Congenital Congenital Hemolytic Anaemia Hereditary Hemolytic Anaemia Hereditary Hemolytic Anemia
Triosephosphate Isomerase Deficiency	TPID Triose Phosphate-Isomerase Deficiency Hemolytic Anemia Due To Triosephosphate Isomerase Deficiency Tpi Deficiency Triose Phosphate Isomerase Deficiency Deficiency Of Phosphotriose Isomerase Hereditary Nonspherocytic Hemolytic Anemia Due To Triosephosphate Isomerase Deficiency
Pyruvate Kinase Deficiency Of Red Cells	Pyruvate Kinase Deficiency Pk Deficiency Pyruvate Kinase Deficiency Of Erythrocyte Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency Pyruvate Kinase Deficiency Of Erythrocytes Pkd PKRD Hereditary Non-Spherocytic Hemolytic Anemia Due To Pyruvate Kinase Deficiency Hnsha Pyruvate Kinase-Deficient Hemolytic Anemia Red Cell Pyruvate Kinase Deficiency Deficiency Of Pyruvate Kinase Anemia, Hemolytic, Congenital Nonspherocytic
Congenital Nonspherocytic Hemolytic Anemia	Hereditary Non-Spherocytic Hemolytic Anemia Hereditary Nonspherocytic Hemolytic Anemia Anemia, Hemolytic, Congenital Nonspherocytic Congenital Nonspherocytic Hemolytic Anaemia Hereditary Nonspherocytic Hemolytic Anaemia Hnsha
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Dehydrated Hereditary Stomatocytosis Hereditary Xerocytosis Xerocytosis, Hereditary Pshk1 Pseudohyperkalemia Edinburgh Dehydrated Hereditary Stomatocytosis With Or Without Pseudohyperkalemia And/Or Perinatal Edema DHS1 Dhs Hereditary Desiccytosis Dehydrated Hereditary Stomatocytosis 1 Desiccytosis, Hereditary Pseudohyperkalemia, Familial, 1, Due To Red Cell Leak Pseudohyperkalemia Familial 1, Due To Red Cell Leak Desiccytosis Hereditary Xerocytosis Hereditary Familial Pseudohyperkalemia 1 Due To Red Cell Leak Stomatocytosis, Dehydrated, Hereditary, With/Without Pseudohyperkalemia And/Or Perinatal Edema Xerocytosis
Bilirubin Metabolic Disorder	Hyperbilirubinemia Hereditary Hyperbilirubinemia Hyperbilirubinemia, Hereditary Hyperbilirubinaemia
Diamond-Blackfan Anemia	Congenital Pure Red Cell Aplasia Aase Syndrome Erythrogenesis Imperfecta Anemia, Diamond-Blackfan Congenital Hypoplastic Anemia Aase-Smith Ii Syndrome Bds Blackfan-Diamond Anemia Congenital Prca Congenital Hypoplastic Anemia, Blackfan-Diamond Type Dba Blackfan - Diamond Syndrome Chronic Constitutional Pure Red Cell Anaemia Anemia Diamond Blackfan Type Anemia Congenital Erythroid Hypoplastic Aregenerative Anemia Chronic Congenital Blackfan Diamond Syndrome Red Cell Aplasia, Pure Hereditary Aase-Smith Syndrome Ii Bda Blackfan Diamond Anemia Blackfan-Diamond Disease Blackfan-Diamond Syndrome Chronic Congenital Agenerative Anemia Congenital Erythroid Hypoplastic Anemia Congenital Hypoplastic Anemia Of Blackfan And Diamond Congenital Pure Red Cell Anemia Hypoplastic Congenital Anemia Inherited Erythroblastopenia Pure Hereditary Red Cell Aplasia Anemia, Hypoplastic, Congenital Anemia Hypoplastic Congenital Fanconi Anemia Constitutional Aplastic Anemia Diamond-Blackfan Anemia 1 Aase Smith Syndrome 2 Congenital Red Cell Aplasia Red Cell Aplasia Of Infants Pure Red Cell Aplasia Of Infants Congenital Red Cell Aplastic Anaemia Congenital Pure Red Cell Anaemia Congenital Erythroid Hypoplasia Pearson Marrow-Pancreas Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04417	EPB42 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	EPB42	VGNC	VGNC:28526
Canis familiaris	EPB42	VGNC	VGNC:40399
Felis catus	EPB42	VGNC	VGNC:61897
Macaca mulatta	EPB42	VGNC	VGNC:72234
Rattus norvegicus	EPB42	RGD	RGD:1305306
Mus musculus	EPB42	MGD	MGI:95402
Others	EPB42	NCBI