EPB42 - erythrocyte membrane protein band 4.2 Gene

Homo sapiens

Also known as PA; SPH5

Gene ID: 2038 | Gene type: protein coding

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	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	12646258	GOA

Cellular Component GO Annotation	Evidence	Reference	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

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

Bioactive Molecules (1)

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

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