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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... See more...
Aliases for EPB42 Gene
Aliases for EPB42 Gene
External Ids for EPB42 Gene
- HGNC: 3381
- Entrez Gene: 2038
- Ensembl: ENSG00000166947
- OMIM: 177070
- UniProtKB: P16452
Previous GeneCards Identifiers for EPB42 Gene
- GC15M038857
- GC15M036385
- GC15M041051
- GC15M041205
- GC15M041277
- GC15M041279
- GC15M043487
- GC15M020338
- GC15M043398
- GC15M043107
- GC15M043199
- GC15M043200
Summaries for EPB42 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 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]
GeneCards Summary for EPB42 Gene
EPB42 (Erythrocyte Membrane Protein Band 4.2) is a Protein Coding gene. Diseases associated with EPB42 include Spherocytosis, Type 5 and Hereditary Spherocytosis. Gene Ontology (GO) annotations related to this gene include structural constituent of cytoskeleton and protein-glutamine gamma-glutamyltransferase activity. An important paralog of this gene is TGM5.
UniProtKB/Swiss-Prot Summary for EPB42 Gene
-
Probably plays an important role in the regulation of erythrocyte shape and mechanical properties.
Additional gene information for EPB42 Gene
- HGNC(3381)
- Entrez Gene(2038)
- Ensembl(ENSG00000166947)
- OMIM(177070)
- UniProtKB(P16452)
- Open Targets Platform(ENSG00000166947)
- Monarch Initiative
- Search for EPB42 at DataMed
- Search for EPB42 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EPB42 Gene
Genomics for EPB42 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for EPB42 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around EPB42 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EPB42
- Top Transcription factor binding sites by QIAGEN in the EPB42 gene promoter:
-
- AREB6
- ATF6
- Meis-1
- Meis-1a
- Meis-1b
- MRF-2
- NF-kappaB
- NF-kappaB1
- Nkx3-1 v4
- Pbx1a
Genomic Locations for EPB42 Gene
Genomic Locations for EPB42 Gene
- chr15:43,197,227-43,225,856
- (GRCh38/hg38)
- Size:
- 28,630 bases
- Orientation:
- Minus strand
- chr15:43,398,423-43,513,481
- (GRCh37/hg19)
- Size:
- 115,059 bases
- Orientation:
- Minus strand
Genomic View for EPB42 Gene
Genes around EPB42 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 15q15.2 by HGNC
- 15q15.2 by Entrez Gene
- 15q15.2 by Ensembl
EPB42 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for EPB42 Gene
Proteins for EPB42 Gene
-
Protein details for EPB42 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P16452-EPB42_HUMAN
- Recommended name:
- Erythrocyte membrane protein band 4.2
- Protein Accession:
- P16452
- Q4KKX0
- Q4VB97
Protein attributes for EPB42 Gene
- Size:
- 691 amino acids
- Molecular mass:
- 77009 Da
- Quaternary structure:
-
- Oligomer. Interacts with the cytoplasmic domain of SLC4A1/band 3 anion transport protein.
- SequenceCaution:
-
- Sequence=AAA36401.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAA36402.1; Type=Frameshift; Evidence={ECO:0000305};
- Miscellaneous:
-
- The substitution of an Ala for a Cys in the active site may be responsible for the lack of transglutaminase activity of band 4.2.
- [Isoform Short]: Major isoform.
Protein Expression for EPB42 Gene
Post-translational modifications for EPB42 Gene
- Both cAMP-dependent kinase (CAPK) and another kinase present in the red-blood cells seem to be able to phosphorylate EPB42.
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for EPB42 Gene
Antibody Products
- LifeSpan BioSciences EPB42 Antibody
-
Custom Antibody ServicesOriGene Antibodies for EPB42
- Novus Biologicals Antibodies for EPB42
- Invitrogen Antibodies for EPB42 (AFLGC-EPB42)
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for EPB42
- Origene Custom Protein Services for EPB42
-
Signalway Proteins for EPB42
-
Abcam proteins for EPB42
Assay Products
-
Signalway ELISA kits for EPB42
No data available for DME Specific Peptides for EPB42 Gene
Domains & Families for EPB42 Gene
Gene Families for EPB42 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for EPB42 Gene
- InterPro:
- Blocks:
-
- Transglutaminase-like domain
- ProtoNet:
Suggested Antigen Peptide Sequences for EPB42 Gene
- GenScript: Design optimal peptide antigens:
-
- Erythrocyte membrane protein band 4.2 (EPB42_HUMAN)
- EPB42 protein (Q4VB96_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P16452UniProtKB/Swiss-Prot:
EPB42_HUMAN :- Belongs to the transglutaminase superfamily. Transglutaminase family.
- Family:
-
- Belongs to the transglutaminase superfamily. Transglutaminase family.
Function for EPB42 Gene
Molecular function for EPB42 Gene
- UniProtKB/Swiss-Prot Function:
- Probably plays an important role in the regulation of erythrocyte shape and mechanical properties.
- GENATLAS Biochemistry:
- erythrocyte surface protein,band 4.2
Phenotypes From GWAS Catalog for EPB42 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003810 | protein-glutamine gamma-glutamyltransferase activity | IBA | 21873635 |
| GO:0005200 | structural constituent of cytoskeleton | TAS | 1350227 |
| GO:0005515 | protein binding | IPI | 12646258 |
| GO:0005524 | ATP binding | TAS | 8608138 |
Phenotypes for EPB42 Gene
- MGI mutant phenotypes for EPB42:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for EPB42:
-
- Decreased hepcidin::fluc mRNA expression
- Increased vaccinia virus (VACV) infection
- no effect
- Decreased viability
- Decreased epidermal growth factor (EGF) endocytosis, decreased transferrin (TF) endocytosis
- Decreased viability ratio
- Synthetic lethal with MLN4924 (a NAE inhibitor)
- Increased viability with MLN4924 (a NAE inhibitor)
- Synthetic lethal with imatinib mesylate
- Increased homologous recombination repair frequency
Animal Models for EPB42 Gene
- MGI Knock Outs for EPB42:
-
- Epb42 Epb42<tm1Llp>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for EPB42 - Select products 50% OFF >
- * EPB42 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for EPB42
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for EPB42
-
Santa Cruz Biotechnology (SCBT) CRISPR for EPB42
miRNA for EPB42 Gene
- miRTarBase miRNAs that target EPB42
-
- mmu-miR-546 (MIRT599059)
- mmu-miR-101c (MIRT599060)
- mmu-miR-1935 (MIRT599061)
- mmu-miR-298-5p (MIRT599062)
- mmu-miR-709 (MIRT599063)
- mmu-miR-363-5p (MIRT599064)
- mmu-miR-1896 (MIRT599065)
- mmu-miR-1199-5p (MIRT599066)
- mmu-miR-1195 (MIRT599067)
- mmu-miR-3089-5p (MIRT599068)
- mmu-miR-505-5p (MIRT602432)
- mmu-miR-34a-5p (MIRT602433)
- mmu-miR-449b (MIRT602434)
- mmu-miR-449c-5p (MIRT602435)
- mmu-miR-449a-5p (MIRT602436)
- mmu-miR-34c-5p (MIRT602437)
- mmu-miR-34b-5p (MIRT602438)
- mmu-miR-376c-3p (MIRT604058)
- mmu-miR-706 (MIRT604059)
- mmu-miR-10b-5p (MIRT604060)
- mmu-miR-10a-5p (MIRT604061)
- mmu-miR-339-5p (MIRT604062)
- mmu-miR-292a-5p (MIRT604063)
- mmu-miR-290a-5p (MIRT604064)
- hsa-miR-1273f (MIRT783294)
- hsa-miR-1289 (MIRT783395)
- hsa-miR-129-5p (MIRT783481)
- hsa-miR-143-3p (MIRT783798)
- hsa-miR-181b-2-3p (MIRT783947)
- hsa-miR-3194-3p (MIRT784783)
- hsa-miR-3198 (MIRT784810)
- hsa-miR-361-3p (MIRT784956)
- hsa-miR-380-3p (MIRT785407)
- hsa-miR-4294 (MIRT785610)
- hsa-miR-4309 (MIRT785683)
- hsa-miR-431-5p (MIRT785722)
- hsa-miR-4534 (MIRT786204)
- hsa-miR-4708-5p (MIRT786469)
- hsa-miR-4770 (MIRT786683)
- hsa-miR-4775 (MIRT786720)
- hsa-miR-5691 (MIRT787755)
- hsa-miR-590-3p (MIRT787951)
- hsa-miR-6088 (MIRT788025)
- hsa-miR-6514-5p (MIRT788342)
- hsa-miR-6805-3p (MIRT788834)
- hsa-miR-8055 (MIRT789670)
- hsa-miR-8082 (MIRT789830)
- hsa-miR-924 (MIRT789935)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for EPB42
- Browse OriGene Inhibitory RNA Products For EPB42
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EPB42
Clone Products
- Applied Biological Materials (abm): Clones for EPB42 - Select products 50% OFF >
- * EPB42 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for EPB42
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for EPB42
Cell Line Products
-
Horizon Cell Lines for EPB42
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for EPB42 Gene
Localization for EPB42 Gene
Subcellular locations from UniProtKB/Swiss-Prot for EPB42 Gene
- Cell membrane. Lipid-anchor. Cytoplasmic side. Cytoplasm, cytoskeleton. Note=Cytoplasmic surface of erythrocyte membranes.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| cytoskeleton | 5 |
| cytosol | 3 |
| extracellular | 1 |
| mitochondrion | 1 |
| nucleus | 1 |
| endoplasmic reticulum | 1 |
| peroxisome | 0 |
- Cytosol (1)
- Nucleoplasm (1)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005856 | cytoskeleton | TAS | 1350227 |
| GO:0005886 | plasma membrane | TAS,IEA | -- |
| GO:0016020 | membrane | IEA | -- |
| GO:0030863 | cortical cytoskeleton | IEA | -- |
Pathways & Interactions for EPB42 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000902 | cell morphogenesis | IEA | -- |
| GO:0007010 | cytoskeleton organization | IEA | -- |
| GO:0008360 | regulation of cell shape | IEA | -- |
| GO:0018149 | peptide cross-linking | IBA | 21873635 |
| GO:0020027 | hemoglobin metabolic process | IEA | -- |
No data available for Pathways by source and SIGNOR curated interactions for EPB42 Gene
Drugs & Compounds for EPB42 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| cyclic amp | Experimental | Pharma | 0 |
Transcripts for EPB42 Gene
mRNA/cDNA for EPB42 Gene
- 2 REFSEQ mRNAs :
- 12 NCBI additional mRNA sequence :
- 7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000441366 2374 nts (view in UCSC)
- ENST00000540029 2098 nts (view in UCSC)
- ENST00000565459 679 nts (view in UCSC)
- ENST00000567019 1619 nts (view in UCSC)
- ENST00000569204 574 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for EPB42 - Select products 50% OFF >
- * EPB42 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for EPB42
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for EPB42
-
Santa Cruz Biotechnology (SCBT) CRISPR for EPB42
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for EPB42
- Browse OriGene Inhibitory RNA Products For EPB42
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EPB42
Clone Products
- Applied Biological Materials (abm): Clones for EPB42 - Select products 50% OFF >
- * EPB42 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for EPB42
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for EPB42
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | · | 6c | ^ | 7 | ^ | 8a | · | 8b | ^ | 9a | · | 9b | · | 9c | ^ | 10a | · | 10b | ^ | 11 | ^ | 12 | ^ | 13a | · | 13b | · | 13c |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP7: |
Relevant External Links for EPB42 Gene
- GeneLoc Exon Structure for
- EPB42
Expression for EPB42 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Blood (Hematopoietic System)
- Erythroblasts Hematopoietic Bone Marrow
- Bone (Muscoskeletal System)
- Liver (Hepatobiliary System)
-
Spleen (Hematopoietic System)
mRNA differential expression in normal tissues according to GTEx for EPB42 Gene
This gene is overexpressed in Whole Blood (x25.8).
This gene is overexpressed in Neutrophil (35.7).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for EPB42 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EPB42
SOURCE GeneReport for Unigene cluster for EPB42 Gene:
Hs.368642Evidence on tissue expression from TISSUES for EPB42 Gene
- Blood(4.7)
- Bone marrow(2.3)
Phenotype-based relationships between genes and organs from Gene ORGANizer for EPB42 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- immune
- integumentary
- lymphatic
- nervous
Regions:
Head and neck:
- brain
- eye
- head
- mouth
Abdomen:
- abdominal wall
- biliary tract
- gallbladder
- liver
- pancreas
- spleen
General:
- blood
- peripheral nerve
- peripheral nervous system
- red blood cell
- skin
Primer Products
-
OriGene qPCR primer pairs for EPB42
-
OriGene qPCR primer pairs and template standards for EPB42
Gene Expression Assay Products
No data available for mRNA Expression by UniProt/SwissProt for EPB42 Gene
Orthologs for EPB42 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | EPB42 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | EPB42 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | EPB42 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Epb4.2 30 31 |
|
OneToOne | |
| Epb42 17 |
|
||||
| Rat (Rattus norvegicus) |
Mammalia | Epb42 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | EPB42 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
ManyToMany | |
| Chicken (Gallus gallus) |
Aves | EPB42 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | EPB42 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | epb42 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | tgm8 31 |
|
OneToMany |
- Species where no ortholog for EPB42 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Fruit Fly (Drosophila melanogaster)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Squirt (Ciona savignyi)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
Evolution for EPB42 Gene
- ENSEMBL:
- Gene Tree for EPB42 (if available)
- TreeFam:
- Gene Tree for EPB42 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for EPB42: view image
Paralogs for EPB42 Gene
(8) SIMAP similar genes for EPB42 Gene using alignment to 7 proteins:
- EPB42_HUMAN
- F5H563_HUMAN
- H3BPV8_HUMAN
- H3BTE6_HUMAN
- H3BUR1_HUMAN
- Q4KKX0_HUMAN
- Q4VB96_HUMAN
Variants for EPB42 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EPB42 Gene
| SNP ID | Clinical significance and condition | Chr 15 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 776883 | Likely Benign: not provided | 43,203,222(-) | C/T | MISSENSE_VARIANT | |
| 776884 | Benign: not provided | 43,209,365(-) | G/T | SYNONYMOUS_VARIANT | |
| 807229 | Uncertain Significance: Spherocytosis type 5; not provided | 43,206,561(-) | C/T | MISSENSE_VARIANT | |
| 811114 | Uncertain Significance: Spherocytosis type 5 | 43,208,655(-) | C/A | MISSENSE_VARIANT | |
| 811192 | Uncertain Significance: Spherocytosis type 5 | 43,207,393(-) | G/A | MISSENSE_VARIANT |
Residual Variation Intolerance Score:
70.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.68;
46.09% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for EPB42 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EPB42 Gene
Disorders for EPB42 Gene
(12) MalaCards diseases for EPB42 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| spherocytosis, type 5 |
|
|
| hereditary spherocytosis |
|
|
| hemolytic anemia |
|
|
| epb42-related hereditary spherocytosis |
|
|
| congenital dyserythropoietic anemia |
|
|
Search EPB42 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
EPB42_HUMAN- Spherocytosis 5 (SPH5) [MIM:612690]: Spherocytosis is a hematologic disorder leading to chronic hemolytic anemia and characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. Absence of band 4.2 associated with spur or target erythrocytes has also been reported. {ECO:0000269 PubMed:10406914, ECO:0000269 PubMed:1558976, ECO:0000269 PubMed:7772513, ECO:0000269 PubMed:7819064, ECO:0000269 PubMed:8547071, ECO:0000269 PubMed:8547605}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for EPB42
- Genetic Association Database
- (GAD)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for EPB42 Gene
Publications for EPB42 Gene
- An alanine-to-threonine substitution in protein 4.2 cDNA is associated with a Japanese form of hereditary hemolytic anemia (protein 4.2NIPPON). (PMID: 1558976) Bouhassira EE … Rybicki AC (Blood 1992) 3 4 23 41
- A point mutation in the protein 4.2 gene (allele 4.2 Tozeur) associated with hereditary haemolytic anaemia. (PMID: 7772513) Hayette S … Delaunay J (British journal of haematology 1995) 3 4 41
- Absence of CD47 in protein 4.2-deficient hereditary spherocytosis in man: an interaction between the Rh complex and the band 3 complex. (PMID: 12176912) Bruce LJ … Tanner MJ (Blood 2002) 3 23
- Band 4.2 Komatsu: 523 GAT-->TAT (175 Asp-->Tyr) in exon 4 of the band 4.2 gene associated with total deficiency of band 4.2, hemolytic anemia with ovalostomatocytosis and marked disruption of the cytoskeletal network. (PMID: 8547605) Kanzaki A … Hayette S (International journal of hematology 1995) 4 41
- A deletional frameshift mutation in protein 4.2 gene (allele 4.2 Lisboa) associated with hereditary hemolytic anemia. (PMID: 7803799) Hayette S … Morlé L (Blood 1995) 3 41
ExternalLinks
Products for EPB42 Gene
- Custom Antibody ServicesOriGene Antibodies for EPB42
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for EPB42
- Origene Custom Protein Services for EPB42
- Origene shrna, sirna, and RNAi products in human, mouse, rat for EPB42
- Browse OriGene Inhibitory RNA Products For EPB42
- OriGene qPCR primer pairs for EPB42
- OriGene qPCR primer pairs and template standards for EPB42
- OriGene CRISPR knockouts for EPB42
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For EPB42
- Sino Biological Human cDNA Clone for EPB42
- Browse Sino Biological Recombinant Proteins
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- High-throughput Antibody Production Service
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- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for EPB42
- Novus Biologicals proteins and lysates for EPB42
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- Abcam proteins for EPB42
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- Browse Primary Antibodies
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- Invitrogen Antibodies for EPB42 (AFLGC-EPB42)
- VectorBuilder Custom and pre-made DNA vectors for EPB42 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for EPB42 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for EPB42 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for EPB42 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for EPB42
- antibodies-online: Show 8 available EPB42 Antibodies ranked by validation data
- Compare Top EPB42 Antibodies
- antibodies-online: Show 12 available EPB42 Elisa Kits ranked by validation data
- Compare Top EPB42 Elisa Kits
- antibodies-online: Show 5 available EPB42 Proteins ranked by validation data
- Compare Top EPB42 Proteins
- Browse Santa Cruz Biotechnology (SCBT) Antibodies
- Search Santa Cruz Biotechnology (SCBT) for EPB42 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for EPB42
- Horizon Cell Lines for EPB42
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for EPB42
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for EPB42
- Search GeneCopoeia for miRNA 3'UTR Target clone products for EPB42
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EPB42
Sources for EPB42 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB