Aliases for CYB5R3 Gene
Aliases for CYB5R3 Gene
External Ids for CYB5R3 Gene
- HGNC: 2873
- Entrez Gene: 1727
- Ensembl: ENSG00000100243
- OMIM: 613213
- UniProtKB: P00387
Previous HGNC Symbols for CYB5R3 Gene
- DIA1
Previous GeneCards Identifiers for CYB5R3 Gene
- GC22M041340
- GC22M043014
- GC22M025974
Summaries for CYB5R3 Gene
-
This gene encodes cytochrome b5 reductase, which includes a membrane-bound form in somatic cells (anchored in the endoplasmic reticulum, mitochondrial and other membranes) and a soluble form in erythrocytes. The membrane-bound form exists mainly on the cytoplasmic side of the endoplasmic reticulum and functions in desaturation and elongation of fatty acids, in cholesterol biosynthesis, and in drug metabolism. The erythrocyte form is located in a soluble fraction of circulating erythrocytes and is involved in methemoglobin reduction. The membrane-bound form has both membrane-binding and catalytic domains, while the soluble form has only the catalytic domain. Alternate splicing results in multiple transcript variants. Mutations in this gene cause methemoglobinemias. [provided by RefSeq, Jan 2010]
GeneCards Summary for CYB5R3 Gene
CYB5R3 (Cytochrome B5 Reductase 3) is a Protein Coding gene. Diseases associated with CYB5R3 include Methemoglobinemia, Type I and Hereditary Methemoglobinemia. Among its related pathways are Innate Immune System and Methylene Blue Pathway, Pharmacodynamics. GO annotations related to this gene include oxidoreductase activity and NAD binding. An important paralog of this gene is CYB5R1.
UniProtKB/Swiss-Prot for CYB5R3 Gene
-
Desaturation and elongation of fatty acids, cholesterol biosynthesis, drug metabolism, and, in erythrocyte, methemoglobin reduction.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CYB5R3 Gene
Genomics for CYB5R3 Gene
Regulatory Elements for CYB5R3 Gene
Enhancers for CYB5R3 Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around CYB5R3 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the CYB5R3 gene promoter:
Regulatory Element Products
Genomic Location for CYB5R3 Gene
- Chromosome:
- 22
- Start:
- 42,617,840 bp from pter
- End:
- 42,649,568 bp from pter
- Size:
- 31,729 bases
- Orientation:
- Minus strand
Genomic View for CYB5R3 Gene
Genes around CYB5R3 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 22q13.2 by Ensembl
- 22q13.2 by Entrez Gene
- 22q13.2 by HGNC
CYB5R3 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 CYB5R3 Gene
Proteins for CYB5R3 Gene
-
Protein details for CYB5R3 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P00387-NB5R3_HUMAN
- Recommended name:
- NADH-cytochrome b5 reductase 3
- Protein Accession:
- P00387
- B1AHF2
- B7Z7L3
- O75675
- Q8TDL8
- Q8WTS8
- Q9UEN4
- Q9UEN5
- Q9UL55
- Q9UL56
Protein attributes for CYB5R3 Gene
- Size:
- 301 amino acids
- Molecular mass:
- 34235 Da
- Cofactor:
- Name=FAD; Xref=ChEBI:CHEBI:57692;
- Quaternary structure:
-
- Component of a complex composed of cytochrome b5, NADH-cytochrome b5 reductase (CYB5R3) and MOSC2.
Protein Expression for CYB5R3 Gene
Selected DME Specific Peptides for CYB5R3 Gene
- P00387:
-
- LMCGPPPMIQ
- YLSARIDG
- PDIKYPLRLID
- GQHIYLS
- HILGLPVG
- SHDTRRF
- DTRRFRFALPSPQHILGLP
- GMIAGGTG
- LLFANQTE
- LWYTLDR
- MIAGGTGITPM
- AGGTGITPMLQ
- YTPISSD
- EFRGPSGLL
- IGDTIEFRGP
- GGKMSQYL
Post-translational modifications for CYB5R3 Gene
Other Protein References for CYB5R3 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for CYB5R3
- Novus Biologicals Antibodies for CYB5R3
- Invitrogen Antibodies for CYB5R3
- antibodies-online Antibodies for CYB5R3: See all 110
- GeneTex CYB5R3 antibody for CYB5R3
-
Santa Cruz Biotechnology (SCBT) Antibodies for CYB5R3
Protein Products
-
OriGene Purified Proteins for CYB5R3
- Search Origene for MassSpec and Protein Over-expression Lysates for CYB5R3
- Origene Custom Protein Services for CYB5R3
- ProSpec Recombinant Proteins for CYB5R3
- antibodies-online Proteins for CYB5R3: See all 17
- Search antibodies-online for peptides
- Search GeneTex for Proteins for CYB5R3
Assay Products
- antibodies-online Kits for CYB5R3: See all 5
Domains & Families for CYB5R3 Gene
Protein Domains for CYB5R3 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for CYB5R3 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P00387UniProtKB/Swiss-Prot:
NB5R3_HUMAN :- Belongs to the flavoprotein pyridine nucleotide cytochrome reductase family.
- Family:
-
- Belongs to the flavoprotein pyridine nucleotide cytochrome reductase family.
No data available for Gene Families for CYB5R3 Gene
Function for CYB5R3 Gene
Molecular function for CYB5R3 Gene
- UniProtKB/Swiss-Prot CatalyticActivity:
- NADH + 2 ferricytochrome b5 = NAD(+) + H(+) + 2 ferrocytochrome b5.
- UniProtKB/Swiss-Prot Function:
- Desaturation and elongation of fatty acids, cholesterol biosynthesis, drug metabolism, and, in erythrocyte, methemoglobin reduction.
Enzyme Numbers (IUBMB) for CYB5R3 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004128 | cytochrome-b5 reductase activity, acting on NAD(P)H | TAS | -- |
| GO:0016208 | AMP binding | IEA | -- |
| GO:0016491 | oxidoreductase activity | IBA | -- |
| GO:0043531 | ADP binding | IEA | -- |
| GO:0050660 | flavin adenine dinucleotide binding | IEA | -- |
Phenotypes for CYB5R3 Gene
- GenomeRNAi human phenotypes for CYB5R3:
-
- Increased viability
- Increased vaccinia virus (VACV) infection
- Decreased viability ratio
- Decreased shRNA abundance (Z-score < -2)
- Dynamic nuclei (hole, folded or small irregular)
- Decreased NF-kappaB reporter expression
- Resistant to vaccinia virus (VACV-A4L) infection
- Negative genetic interaction between PTEN-/- and PTEN+/+
- Increased shRNA abundance (Z-score > 2)
- Decreased viability
- Decreased caspase 3/7 activity
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for CYB5R3
-
-
ViGene Biosciences lentiviral particle packaged cDNA for CYB5R3 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for CYB5R3 gene
- Search ViGene Biosciences for CYB5R3
CRISPR Products
-
OriGene CRISPR knockouts for CYB5R3
-
Santa Cruz Biotechnology (SCBT) CRISPR for CYB5R3
- GenScript: Design CRISPR guide RNA sequences for CYB5R3
miRNA for CYB5R3 Gene
- miRTarBase miRNAs that target CYB5R3
-
- hsa-mir-98-5p (MIRT027454)
- hsa-mir-744-5p (MIRT037551)
- hsa-mir-484 (MIRT042354)
- hsa-mir-378a-3p (MIRT043904)
- hsa-mir-92a-3p (MIRT049610)
- hsa-mir-218-5p (MIRT440852)
- hsa-mir-6738-3p (MIRT619426)
- hsa-mir-544a (MIRT619427)
- hsa-mir-6071 (MIRT619428)
- hsa-mir-6828-3p (MIRT619429)
- hsa-mir-6847-3p (MIRT619430)
- hsa-mir-767-3p (MIRT619431)
- hsa-mir-5003-3p (MIRT619432)
miRNA Products
- Search ViGene Biosciences for CYB5R3
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for CYB5R3
- Browse OriGene Inhibitory RNA Products For CYB5R3
-
ViGene Biosciences ready-to-package AAV shRNAs for CYB5R3 gene
Clone Products
-
OriGene ORF clones in human for CYB5R3
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for CYB5R3
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for CYB5R3
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CYB5R3
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for CYB5R3
-
ViGene Biosciences adenoviral particle packaged cDNA for CYB5R3 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for CYB5R3 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for CYB5R3 gene
Flow Cytometry Products
No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for CYB5R3 Gene
Localization for CYB5R3 Gene
Subcellular locations from UniProtKB/Swiss-Prot for CYB5R3 Gene
- Isoform 1: Endoplasmic reticulum membrane; Lipid-anchor; Cytoplasmic side. Mitochondrion outer membrane; Lipid-anchor; Cytoplasmic side.
- Isoform 2: Cytoplasm. Note=Produces the soluble form found in erythrocytes.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| mitochondrion | 5 |
| endoplasmic reticulum | 5 |
| cytosol | 5 |
| lysosome | 4 |
| plasma membrane | 1 |
| peroxisome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | TAS | -- |
| GO:0005737 | cytoplasm | TAS | 9207238 |
| GO:0005739 | mitochondrion | IDA,IEA | 20833797 |
| GO:0005741 | mitochondrial outer membrane | TAS | -- |
| GO:0005743 | mitochondrial inner membrane | IEA | -- |
Pathways & Interactions for CYB5R3 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Cytochrome P450 - arranged by substrate type | ||
| 2 | Innate Immune System |
.61
|
|
| 3 | Metabolism of water-soluble vitamins and cofactors | ||
| 4 | Amino sugar and nucleotide sugar metabolism | ||
| 5 | Methylene Blue Pathway, Pharmacodynamics | ||
Pathways by source for CYB5R3 Gene
1 BioSystems pathway for CYB5R3 Gene
9 Reactome pathways for CYB5R3 Gene
1 PharmGKB pathway for CYB5R3 Gene
1 KEGG pathway for CYB5R3 Gene
1 GeneGo (Thomson Reuters) pathway for CYB5R3 Gene
1 Qiagen pathway for CYB5R3 Gene
Interacting Proteins for CYB5R3 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006629 | lipid metabolic process | IEA | -- |
| GO:0006694 | steroid biosynthetic process | IEA | -- |
| GO:0006695 | cholesterol biosynthetic process | IEA | -- |
| GO:0006805 | xenobiotic metabolic process | TAS | -- |
| GO:0008015 | blood circulation | TAS | 1400360 |
No data available for SIGNOR curated interactions for CYB5R3 Gene
Drugs & Compounds for CYB5R3 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| FAD | Approved | Pharma | Target | 0 | ||
| Isosorbide Dinitrate | Approved | Pharma | 59 | |||
| Isosorbide Mononitrate | Approved | Pharma | 0 | |||
| Lidocaine | Approved, Vet_approved | Pharma | Antagonist, Pore Blocker | Anasthetic and class Ib antiarrhythmic agent | 1317 | |
| Metoclopramide | Approved, Investigational | Pharma | Dopamine receptor antagonist | 120 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| Ferrocytochrome |
|
1818-68-4 |
|
|
||
| Hydrogen Ion |
|
|
Transcripts for CYB5R3 Gene
mRNA/cDNA for CYB5R3 Gene
- (5) REFSEQ mRNAs :
- (15) Additional mRNA sequences :
- (712) Selected AceView cDNA sequences:
- (8) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for CYB5R3 Gene
- Cytochrome b5 reductase 3:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for CYB5R3
-
Santa Cruz Biotechnology (SCBT) CRISPR for CYB5R3
- GenScript: Design CRISPR guide RNA sequences for CYB5R3
miRNA Products
- Search ViGene Biosciences for CYB5R3
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for CYB5R3
- Browse OriGene Inhibitory RNA Products For CYB5R3
-
ViGene Biosciences ready-to-package AAV shRNAs for CYB5R3 gene
Clone Products
-
OriGene ORF clones in human for CYB5R3
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for CYB5R3
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for CYB5R3
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CYB5R3
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7a | · | 7b | ^ | 8a | · | 8b | ^ | 9 | ^ | 10a | · | 10b | ^ | 11a | · | 11b | · | 11c | · | 11d |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||
| SP4: | - | - | |||||||||||||||||||||||||||||||||||||
| SP5: | - | - | |||||||||||||||||||||||||||||||||||||
| SP6: | - | ||||||||||||||||||||||||||||||||||||||
| SP7: |
Expression for CYB5R3 Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CYB5R3 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of CYB5R3 Gene:
CYB5R3SOURCE GeneReport for Unigene cluster for CYB5R3 Gene:
Hs.561064mRNA Expression by UniProt/SwissProt for CYB5R3 Gene:
P00387-NB5R3_HUMAN
Tissue specificity:
Isoform 2 is expressed at late stages of erythroid maturation.
Evidence on tissue expression from TISSUES for CYB5R3 Gene
- Liver(4.8)
- Nervous system(4.6)
- Blood(4.5)
- Skin(3.3)
- Intestine(3.2)
- Lung(2.5)
- Heart(2.2)
- Muscle(2.2)
- Kidney(2.1)
- Gall bladder(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for CYB5R3 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- integumentary
- nervous
- respiratory
- skeletal muscle
- skeleton
Organs:
Head and neck:
- brain
- cranial nerve
- eye
- head
- meninges
- neck
- skull
Thorax:
- bronchus
- lung
- trachea
General:
- blood
- blood vessel
- peripheral nerve
- peripheral nervous system
- red blood cell
- skin
Primer Products
-
OriGene qPCR primer pairs and template standards for CYB5R3
-
OriGene qPCR primer pairs for CYB5R3
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein differential expression in normal tissues for CYB5R3 Gene
Orthologs for CYB5R3 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | CYB5R3 35 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | CYB5R3 35 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | CYB5R3 35 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Cyb5r3 35 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | CYB5R3 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | CYB5R3 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | CYB5R3 35 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | CYB5R3 35 |
|
OneToOne | |
| zebrafish (Danio rerio) |
Actinopterygii | cyb5r3 35 |
|
OneToOne | |
| -- 34 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.1357 34 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG5946 35 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | T05H4.4 35 |
|
ManyToMany | |
| hpo-19 35 |
|
ManyToMany | |||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | CBR1 35 |
|
ManyToMany | |
| PGA3 35 |
|
ManyToMany | |||
| AIM33 35 |
|
ManyToMany | |||
| rice (Oryza sativa) |
Liliopsida | Os.4717 34 |
|
||
| corn (Zea mays) |
Liliopsida | Zm.4080 34 |
|
||
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.4536 34 |
|
- Species where no ortholog for CYB5R3 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)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- 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)
- rat (Rattus norvegicus)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- 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)
- tropical clawed frog (Silurana tropicalis)
- wheat (Triticum aestivum)
Paralogs for CYB5R3 Gene
Variants for CYB5R3 Gene
Polymorphic Variants from UniProtKB/Swiss-Prot for CYB5R3 Gene
- NB5R3_HUMAN-P00387
- Ser-117 seems to only be found in persons of African origin. The allele frequency is 0.23 in African Americans. It was not found in Caucasians, Asians, Indo-Aryans, or Arabs. There seems to be no effect on the enzyme activity.
| SNP ID | Clin | Chr 22 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs121965006 | Pathogenic, Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800] | 42,628,233(-) | AGATG(C/T)CTCAG | reference, missense | |
| rs121965007 | Pathogenic, Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800] | 42,631,431(-) | CACCC(A/G)GCGCT | reference, missense | |
| rs121965008 | Pathogenic, Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800] | 42,628,169(-) | GCTGC(C/T)GGTCT | reference, missense | |
| rs121965009 | Pathogenic, Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800] | 42,630,899(-) | GCTTC(A/G)TGGAC | reference, missense | |
| rs121965011 | Pathogenic, Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800] | 42,627,327(-) | CTGTG(C/T)GCCAC | reference, missense |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv260n21 | CNV | loss | 19592680 |
| esv2438931 | CNV | deletion | 19546169 |
| esv2758839 | CNV | gain+loss | 17122850 |
| nsv1127922 | CNV | deletion | 24896259 |
| nsv428391 | CNV | gain | 18775914 |
| nsv524028 | CNV | loss | 19592680 |
Residual Variation Intolerance Score:
50.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
5.46;
71.56% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for CYB5R3 Gene
Disorders for CYB5R3 Gene
(8) MalaCards diseases for CYB5R3 Gene - From: OMIM, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| methemoglobinemia, type i |
|
|
| hereditary methemoglobinemia |
|
|
| methemoglobinemia |
|
|
| congenital methemoglobinemia |
|
|
| acquired methemoglobinemia |
|
Search CYB5R3 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
NB5R3_HUMAN- Methemoglobinemia CYB5R3-related (METHB-CYB5R3) [MIM:250800]: A form of methemoglobinemia, a hematologic disease characterized by the presence of excessive amounts of methemoglobin in blood cells, resulting in decreased oxygen carrying capacity of the blood, cyanosis and hypoxia. There are two types of methemoglobinemia CYB5R3-related. In type 1, the defect affects the soluble form of the enzyme, is restricted to red blood cells, and causes well-tolerated methemoglobinemia. In type 2, the defect affects both the soluble and microsomal forms of the enzyme and is thus generalized, affecting red cells, leukocytes and all body tissues. Type 2 methemoglobinemia is associated with mental deficiency and other neurologic symptoms. {ECO:0000269 PubMed:10807796, ECO:0000269 PubMed:12393396, ECO:0000269 PubMed:1400360, ECO:0000269 PubMed:15622768, ECO:0000269 PubMed:15953014, ECO:0000269 PubMed:1707593, ECO:0000269 PubMed:1898726, ECO:0000269 PubMed:7718898, ECO:0000269 PubMed:8119939, ECO:0000269 PubMed:9695975, ECO:0000269 PubMed:9886302}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Relevant External Links for CYB5R3
No data available for Genatlas for CYB5R3 Gene
Publications for CYB5R3 Gene
- Structure of human erythrocyte NADH-cytochrome b5 reductase. (PMID: 15502298) Bando S. … Nakagawa A. (Acta Crystallogr. D 2004) 3 4 22 64
- A novel mutation in the NADH-cytochrome b5 reductase gene of a Chinese patient with recessive congenital methemoglobinemia. (PMID: 10807796) Wang Y. … Zhu Z.-Y. (Blood 2000) 3 4 22 64
- An erythroid-specific transcript generates the soluble form of NADH- cytochrome b5 reductase in humans. (PMID: 9639531) Bulbarelli A. … Borgese N. (Blood 1998) 3 4 22 64
- Identification of a novel point mutation (Leu72-to-Pro) in the NADH- cytochrome b5 reductase gene of a patient with hereditary methaemoglobinaemia type I. (PMID: 9695975) Wu Y.-S. … Zhu Z.-Y. (Br. J. Haematol. 1998) 3 4 22 64
- Molecular basis of hereditary methaemoglobinaemia, types I and II: two novel mutations in the NADH-cytochrome b5 reductase gene. (PMID: 9886302) Higasa K. … Fukumaki Y. (Br. J. Haematol. 1998) 3 4 22 64
Products for CYB5R3 Gene
- Browse R&D Systems for Antibodies
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Primary Antibodies
- Browse Proteins and Enzymes
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- Custom Antibody ServicesOriGene Antibodies for CYB5R3
- Browse OriGene ELISA Kits
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- GenScript: Next-day shipping cDNA ORF clone for CYB5R3 in any vector
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- Novus Biologicals Antibodies for CYB5R3
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- antibodies-online Antibodies for CYB5R3: See all 110
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- Search antibodies-online for peptides
- GeneTex CYB5R3 antibody for CYB5R3
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- ViGene Biosciences adenoviral particle packaged cDNA for CYB5R3 gene
- ViGene Biosciences lentiviral particle packaged cDNA for CYB5R3 gene
- ViGene Biosciences ready-to-package AAV shRNAs for CYB5R3 gene
- Search ViGene Biosciences for CYB5R3
- Santa Cruz Biotechnology (SCBT) Antibodies for CYB5R3
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- Horizon Cell Lines for CYB5R3
- Cyagen custom Knockout/knockin (KOKI) mouse models for CYB5R3
- VectorBuilder custom plasmid, inducible vectors for CYB5R3
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CYB5R3
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for CYB5R3 Gene
- (1) GeneCards
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- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
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- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
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- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
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