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
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 TGM2.
UniProtKB/Swiss-Prot for EPB42 Gene
-
Probably plays an important role in the regulation of erythrocyte shape and mechanical properties.
Additional gene information for EPB42 Gene
- Monarch Initiative
- Search for EPB42 at DataMed
- Search for EPB42 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EPB42 Gene
Genomics for EPB42 Gene
GeneHancer (GH) Regulatory Elements for EPB42 Gene
Promoters and enhancers for EPB42 Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH15J043220 | Promoter/Enhancer | 1.3 | EPDnew ENCODE | 650.7 | +4.6 | 4622 | 1 | HDAC1 ARNT RARA CHAMP1 TCF12 ZNF766 GATA2 SIRT6 ETV6 ZBTB11 | EPB42 CATSPER2 ENSG00000285117 | |
| GH15J043225 | Enhancer | 0.7 | ENCODE | 650.7 | +0.2 | 223 | 0.2 | CTCF RB1 RAD21 CHAMP1 CC2D1A MTA3 ARID2 ZNF143 SMC3 ZSCAN29 | EPB42 TGM5 CCNDBP1 TGM7 ENSG00000285117 | |
| GH15J043218 | Enhancer | 1 | FANTOM5 Ensembl ENCODE | 45.2 | +6.7 | 6654 | 1.1 | CTCF HLF ZNF148 GATA3 ZNF143 ZBTB33 RCOR1 KDM1A CREM | EPB42 CCNDBP1 ENSG00000285117 | |
| GH15J043230 | Enhancer | 0.9 | ENCODE | 0.7 | -4.9 | -4867 | 1 | HDGF TCF12 ZNF766 GATA2 ZFP91 ATF7 NCOA1 ZNF592 ATF4 GMEB1 | CCNDBP1 TGM5 TGM7 EPB42 ENSG00000202211 | |
| GH15J043239 | Enhancer | 0.9 | Ensembl ENCODE | 0.4 | -14.0 | -13992 | 0.7 | ELF3 SOX13 SAP130 MAX EBF1 BATF FOSL1 POLR2A ZSCAN29 ATF7 | ENSG00000202211 EPB42 TGM5 |
- 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 UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the EPB42 gene promoter:
-
- MRF-2
- AREB6
- NF-kappaB1
- NF-kappaB
- Meis-1b
- Meis-1a
- Meis-1
- ATF6
- Pbx1a
- Nkx3-1 v4
Regulatory Element Products
Genomic Locations for EPB42 Gene
Genomic Locations for EPB42 Gene
- chr15:43,197,227-43,225,861
- (GRCh38/hg38)
- Size:
- 28,635 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 Entrez Gene
- 15q15.2 by HGNC
- 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.
- 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.
- SequenceCaution:
-
- Sequence=AAA36401.1; Type=Frameshift; Positions=335, 340; Evidence={ECO:0000305}; Sequence=AAA36402.1; Type=Frameshift; Positions=335, 340; Evidence={ECO:0000305};
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
-
Custom Antibody ServicesOriGene Antibodies for EPB42
- Novus Biologicals Antibodies for EPB42
- Invitrogen Antibodies for EPB42 (AFLGC-EPB42)
- Search GeneTex for Antibodies for EPB42
-
Boster Bio Antibodies for EPB42
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for EPB42
- Origene Custom Protein Services for EPB42
- Search GeneTex for Proteins for EPB42
-
Abcam proteins for EPB42
Assay Products
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
Suggested Antigen Peptide Sequences for EPB42 Gene
- GenScript: Design optimal peptide antigens:
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003810 | protein-glutamine gamma-glutamyltransferase activity | IEA | -- |
| 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 viability ratio
- Synthetic lethal with imatinib mesylate
- Decreased homologous recombination repair frequency
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Decreased hepcidin::fluc mRNA expression
- Increased transferrin (TF) endocytosis
- Synthetic lethal with MLN4924 (a NAE inhibitor)
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
- Cyagen custom Knockout/knockin (KOKI) mouse models for EPB42
-
CRISPR Products
-
OriGene CRISPR knockouts for EPB42
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for EPB42
- genomics-online: gRNA clones - Search results for available EPB42 gene related products
- Applied Biological Materials CRISPR for EPB42
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for EPB42
- GenScript: Design CRISPR guide RNA sequences for EPB42
miRNA for EPB42 Gene
- miRTarBase miRNAs that target EPB42
-
- 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
- genomics-online: shRNA clones - Search results for available EPB42 gene related products
Clone Products
- Sino Biological Human cDNA Clone for EPB42
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for EPB42
- genomics-online: cdna clones - Search results for available EPB42 gene related products
- orf clones - Search results for available EPB42 gene related products
- Applied Biological Materials Clones for EPB42
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for EPB42
No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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 |
| peroxisome | 1 |
| nucleus | 1 |
| endoplasmic reticulum | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005856 | cytoskeleton | IEA,TAS | -- |
| GO:0005886 | plasma membrane | IEA,TAS | -- |
| GO:0016020 | membrane | IEA | -- |
| GO:0030863 | cortical cytoskeleton | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for EPB42 Gene
Pathways & Interactions for EPB42 Gene
No Data Available
Interacting Proteins for EPB42 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0007010 | cytoskeleton organization | IEA | -- |
| GO:0008360 | regulation of cell shape | IEA | -- |
| GO:0018149 | peptide cross-linking | IEA | -- |
| GO:0020027 | hemoglobin metabolic process | IEA | -- |
| GO:0043249 | erythrocyte maturation | 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 |
Drug Products
Transcripts for EPB42 Gene
mRNA/cDNA for EPB42 Gene
- (9) REFSEQ mRNAs :
- (10) Additional mRNA sequences :
- (221) Selected AceView cDNA sequences:
- (7) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000568508 2467 bps (uc059iie.1)
- ENST00000540029 2098 bps (uc010udm.3)
- ENST00000441366 2374 bps (uc001zra.5)
- ENST00000567019 1619 bps (uc059iif.1)
- ENST00000565459 679 bps (uc059iig.1)
Unigene Clusters for EPB42 Gene
CRISPR Products
-
OriGene CRISPR knockouts for EPB42
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for EPB42
- genomics-online: gRNA clones - Search results for available EPB42 gene related products
- Applied Biological Materials CRISPR for EPB42
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for EPB42
- GenScript: Design CRISPR guide RNA sequences 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
- genomics-online: shRNA clones - Search results for available EPB42 gene related products
Clone Products
- Sino Biological Human cDNA Clone for EPB42
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for EPB42
- genomics-online: cdna clones - Search results for available EPB42 gene related products
- orf clones - Search results for available EPB42 gene related products
- Applied Biological Materials Clones for EPB42
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: |
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
NURSA nuclear receptor signaling pathways regulating expression of EPB42 Gene:
EPB42SOURCE GeneReport for Unigene cluster for EPB42 Gene:
Hs.368642Evidence on tissue expression from TISSUES for EPB42 Gene
- Blood(4.6)
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
- genomics-online: primer clones - Search results for available EPB42 gene related products
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 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | EPB42 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | EPB42 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Epb4.2 34 33 |
|
OneToOne | |
| Epb42 16 |
|
||||
| rat (Rattus norvegicus) |
Mammalia | Epb42 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | EPB42 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
ManyToMany | |
| chicken (Gallus gallus) |
Aves | EPB42 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | EPB42 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | epb42 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | tgm8 34 |
|
OneToMany |
- Species where no ortholog for EPB42 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya 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 squirt (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
| SNP ID | Clin | Chr 15 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1027033090 | uncertain-significance, Spherocytosis, Recessive | 43,221,108(-) | C/T | 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant | |
| rs1042168 | benign, likely-benign, not specified, Spherocytosis, Recessive | 43,215,195(-) | C/T | coding_sequence_variant, genic_upstream_transcript_variant, synonymous_variant, upstream_transcript_variant | |
| rs104894487 | conflicting-interpretations-of-pathogenicity, Spherocytosis type 5, Spherocytosis 5 (SPH5) [MIM:612690] | 43,215,191(-) | C/T | coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, upstream_transcript_variant | |
| rs114136713 | likely-benign, uncertain-significance, not specified, Spherocytosis, Recessive | 43,211,512(-) | A/G | 5_prime_UTR_variant, coding_sequence_variant, synonymous_variant | |
| rs114354377 | uncertain-significance, Spherocytosis, Recessive | 43,203,127(-) | G/T | coding_sequence_variant, 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
(3) MalaCards diseases for EPB42 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| spherocytosis, type 5 |
|
|
| hereditary spherocytosis |
|
|
| hemolytic 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
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 22 44 58
- 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 44 58
- 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 22 58
- 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 44 58
- 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 44 58
Products for EPB42 Gene
- Browse R&D Systems for Antibodies
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Human Proteins and Enzymes
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
- Browse Activity Assays
- Browse cDNA Clones
- Browse Cell Culture Products
- Browse Cell Selection and Detection Kits
- Browse DNA Damage and Repair Kits
- Browse ELISpot/FluoroSpot Kits and Development Modules
- Browse Flow Cytometry Kits
- Browse Immunoprecipitation Assays
- Browse Luminex Assays
- Browse Peptides
- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- 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
- GenScript: Next-day shipping of latest version cDNA ORF clones for EPB42 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for EPB42
- GenScript Custom Assay Services for EPB42
- GenScript Custom overexpressing Cell Line Services for EPB42
- GenScript: Design CRISPR guide RNA sequences for EPB42
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for EPB42
- Sino Biological Human cDNA Clone for EPB42
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for EPB42
- Novus Biologicals proteins and lysates for EPB42
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam proteins for EPB42
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Invitrogen Antibodies for EPB42 (AFLGC-EPB42)
- Cyagen custom Knockout/knockin (KOKI) mouse models for EPB42
- antibodies-online: Search results for 20 available EPB42 Antibodies ranked by validation data
- Compare Top EPB42 Antibodies
- antibodies-online: Search results for 9 available EPB42 Elisa Kits ranked by validation data
- Compare Top EPB42 Elisa Kits
- antibodies-online: Search results for 5 available EPB42 Proteins ranked by validation data
- Compare Top EPB42 Proteins
- Search GeneTex for Antibodies for EPB42
- Search GeneTex for Proteins for EPB42
- 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
- genomics-online: cdna clones - Search results for available EPB42 gene related products
- orf clones - Search results for available EPB42 gene related products
- genomics-online: gRNA clones - Search results for available EPB42 gene related products
- genomics-online: primer clones - Search results for available EPB42 gene related products
- genomics-online: shRNA clones - Search results for available EPB42 gene related products
- 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
- GeneCopoeia miRNA 3'UTR Target clone products for EPB42
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EPB42
- Boster Bio Antibodies for EPB42
- Browse Boster Bio ELISA Kits
Sources for EPB42 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
- (159) GlyConnect
- (160) Aminode
- (161) GeneCopoeia
- (162) GPS-Prot
- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio
- (169) Biorbyt