Aliases for CYB5B Gene

Aliases for CYB5B Gene

  • Cytochrome B5 Type B 2 3 4 5
  • Cytochrome B5 Type B (Outer Mitochondrial Membrane) 2 3
  • CYB5-M 2 3
  • OMB5 3 4
  • Cytochrome B5 Outer Mitochondrial Membrane Isoform 4
  • Outer Mitochondrial Membrane Cytochrome B5 3
  • Type 2 Cyt-B5 3
  • CYPB5M 3
  • CYB5B 5
  • CYB5M 4

External Ids for CYB5B Gene

Previous GeneCards Identifiers for CYB5B Gene

  • GC16P068017
  • GC16P069458
  • GC16P055336

Summaries for CYB5B Gene

GeneCards Summary for CYB5B Gene

CYB5B (Cytochrome B5 Type B) is a Protein Coding gene. Diseases associated with CYB5B include Optic Atrophy 8 and Angular Cheilitis. Among its related pathways are Cytochrome P450 - arranged by substrate type and Metabolism. Gene Ontology (GO) annotations related to this gene include heme binding and enzyme activator activity. An important paralog of this gene is CYB5A.

UniProtKB/Swiss-Prot Summary for CYB5B Gene

  • Cytochrome b5 is a membrane-bound hemoprotein functioning as an electron carrier for several membrane-bound oxygenases.

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CYB5B Gene

Genomics for CYB5B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CYB5B 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 CYB5B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CYB5B

Top Transcription factor binding sites by QIAGEN in the CYB5B gene promoter:
  • c-Myc
  • GCNF
  • GCNF-1
  • GCNF-2
  • POU2F1
  • POU2F1a
  • PPAR-alpha
  • XBP-1

Genomic Locations for CYB5B Gene

Latest Assembly
chr16:69,424,619-69,466,264
(GRCh38/hg38)
Size:
41,646 bases
Orientation:
Plus strand

Previous Assembly
chr16:69,458,522-69,500,167
(GRCh37/hg19 by Entrez Gene)
Size:
41,646 bases
Orientation:
Plus strand

chr16:69,458,428-69,500,169
(GRCh37/hg19 by Ensembl)
Size:
41,742 bases
Orientation:
Plus strand

Genomic View for CYB5B Gene

Genes around CYB5B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CYB5B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CYB5B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CYB5B Gene

Proteins for CYB5B Gene

  • Protein details for CYB5B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43169-CYB5B_HUMAN
    Recommended name:
    Cytochrome b5 type B
    Protein Accession:
    O43169
    Secondary Accessions:
    • A8K6B1
    • J3KNF8
    • Q96CC3
    • Q9BT35

    Protein attributes for CYB5B Gene

    Size:
    150 amino acids
    Molecular mass:
    16695 Da
    Quaternary structure:
    • Component of a complex composed of cytochrome b5, NADH-cytochrome b5 reductase (CYB5R3) and MTARC2.
    SequenceCaution:
    • Sequence=AAH04373.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAH14431.2; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAA23735.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAF84265.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CYB5B Gene

neXtProt entry for CYB5B Gene

Post-translational modifications for CYB5B Gene

  • Ubiquitination at Lys39 and Lys92
  • Modification sites at PhosphoSitePlus

Other Protein References for CYB5B Gene

Antibodies for research

  • Boster Bio Antibodies for CYB5B

No data available for DME Specific Peptides for CYB5B Gene

Domains & Families for CYB5B Gene

Gene Families for CYB5B Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for CYB5B Gene

InterPro:
Blocks:
  • Cytochrome b5
  • MIP family
ProtoNet:

Suggested Antigen Peptide Sequences for CYB5B Gene

GenScript: Design optimal peptide antigens:
  • Cytochrome b5 outer mitochondrial membrane isoform (CYB5B_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O43169

UniProtKB/Swiss-Prot:

CYB5B_HUMAN :
  • Belongs to the cytochrome b5 family.
Family:
  • Belongs to the cytochrome b5 family.
genes like me logo Genes that share domains with CYB5B: view

Function for CYB5B Gene

Molecular function for CYB5B Gene

UniProtKB/Swiss-Prot Function:
Cytochrome b5 is a membrane-bound hemoprotein functioning as an electron carrier for several membrane-bound oxygenases.

Phenotypes From GWAS Catalog for CYB5B Gene

Gene Ontology (GO) - Molecular Function for CYB5B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25616068
GO:0008047 enzyme activator activity IEA --
GO:0009055 electron transfer activity IBA 21873635
GO:0020037 heme binding IEA,IDA 20861021
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with CYB5B: view
genes like me logo Genes that share phenotypes with CYB5B: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CYB5B

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CYB5B Gene

Localization for CYB5B Gene

Subcellular locations from UniProtKB/Swiss-Prot for CYB5B Gene

Mitochondrion outer membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CYB5B gene
Compartment Confidence
mitochondrion 4
cytosol 3
cytoskeleton 2
endoplasmic reticulum 2
plasma membrane 1
extracellular 1
peroxisome 1
nucleus 1
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centriolar satellite (2)
  • Cytosol (2)
  • Endoplasmic reticulum (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CYB5B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005741 mitochondrial outer membrane TAS --
GO:0016020 membrane IEA,IBA 21873635
GO:0016021 integral component of membrane IEA --
GO:0043231 intracellular membrane-bounded organelle IEA,IBA 21873635
genes like me logo Genes that share ontologies with CYB5B: view

Pathways & Interactions for CYB5B Gene

genes like me logo Genes that share pathways with CYB5B: view

Pathways by source for CYB5B Gene

1 BioSystems pathway for CYB5B Gene

Gene Ontology (GO) - Biological Process for CYB5B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006805 xenobiotic metabolic process TAS --
GO:0006809 nitric oxide biosynthetic process IDA 24500710
GO:0022900 electron transport chain IEA --
GO:0050790 regulation of catalytic activity IEA --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with CYB5B: view

No data available for SIGNOR curated interactions for CYB5B Gene

Drugs & Compounds for CYB5B Gene

(3) Drugs for CYB5B Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra 0
Phenethyl isothiocyanate Investigational Pharma Target 12
heme Pharma 0
genes like me logo Genes that share compounds with CYB5B: view

Transcripts for CYB5B Gene

mRNA/cDNA for CYB5B Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CYB5B

Alternative Splicing Database (ASD) splice patterns (SP) for CYB5B Gene

No ASD Table

Relevant External Links for CYB5B Gene

GeneLoc Exon Structure for
CYB5B

Expression for CYB5B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CYB5B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CYB5B Gene

This gene is overexpressed in Adrenal Gland (x6.5).

Protein differential expression in normal tissues from HIPED for CYB5B Gene

This gene is overexpressed in Nasal epithelium (31.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CYB5B Gene



Protein tissue co-expression partners for CYB5B Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CYB5B

SOURCE GeneReport for Unigene cluster for CYB5B Gene:

Hs.461131

Evidence on tissue expression from TISSUES for CYB5B Gene

  • Liver(4.4)
  • Nervous system(4.3)
  • Pancreas(4.2)
  • Adrenal gland(2.8)
  • Intestine(2.6)
  • Skin(2.2)
  • Kidney(2.2)
genes like me logo Genes that share expression patterns with CYB5B: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CYB5B Gene

Orthologs for CYB5B Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CYB5B Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CYB5B 30 31
  • 99.56 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CYB5B 30 31
  • 84.02 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cyb5b 30
  • 82.42 (n)
Mouse
(Mus musculus)
Mammalia Cyb5b 30 17 31
  • 80.82 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 66 (a)
OneToMany
-- 31
  • 60 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia CYB5B 31
  • 60 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia -- 31
  • 47 (a)
ManyToMany
Chicken
(Gallus gallus)
Aves CYB5B 30 31
  • 71.82 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CYB5B 31
  • 57 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cyb5b 30
  • 62.08 (n)
Zebrafish
(Danio rerio)
Actinopterygii cyb5b 30 31
  • 57.05 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG3566 31
  • 45 (a)
ManyToMany
CG5157 31
  • 40 (a)
ManyToMany
Cyt-b5 31
  • 40 (a)
ManyToMany
CG6870 31
  • 31 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea cytb-5.2 30 31
  • 54.87 (n)
ManyToMany
cytb-5.1 31
  • 41 (a)
ManyToMany
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AFL223W 30
  • 50.93 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CYB5 30 31 33
  • 49.55 (n)
OneToMany
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F23672g 30
  • 48.54 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons CB5-D 30
  • 51.28 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU03910 30
  • 56.81 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes oca8 30
  • 51.79 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.7428 31
  • 51 (a)
OneToMany
Species where no ortholog for CYB5B was found in the sources mined by GeneCards:
  • 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)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • 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 Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for CYB5B Gene

ENSEMBL:
Gene Tree for CYB5B (if available)
TreeFam:
Gene Tree for CYB5B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CYB5B: view image

Paralogs for CYB5B Gene

Paralogs for CYB5B Gene

(5) SIMAP similar genes for CYB5B Gene using alignment to 5 proteins:

  • CYB5B_HUMAN
  • D6RFH4_HUMAN
  • H3BUX2_HUMAN
  • J3KNF8_HUMAN
  • J3QR91_HUMAN

Pseudogenes.org Pseudogenes for CYB5B Gene

genes like me logo Genes that share paralogs with CYB5B: view

Variants for CYB5B Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CYB5B Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CYB5B Gene

Variant ID Type Subtype PubMed ID
nsv476678 CNV novel sequence insertion 20440878
nsv509629 CNV insertion 20534489

Variation tolerance for CYB5B Gene

Residual Variation Intolerance Score: 69.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.89; 35.35% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CYB5B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CYB5B

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CYB5B Gene

Disorders for CYB5B Gene

MalaCards: The human disease database

(3) MalaCards diseases for CYB5B Gene - From: COP and GCD

Disorder Aliases PubMed IDs
optic atrophy 8
  • opa8
angular cheilitis
  • angular cheilosis
neuronal ceroid lipofuscinosis
  • hereditary ceroid lipofuscinosis
- elite association - COSMIC cancer census association via MalaCards
Search CYB5B in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CYB5B

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with CYB5B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CYB5B Gene

Publications for CYB5B Gene

  1. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. Mammalian mitochondrial and microsomal cytochromes b(5) exhibit divergent structural and biophysical characteristics. (PMID: 14733950) Altuve A … Rivera M (Biochemical and biophysical research communications 2004) 2 3
  5. Assessment of the ability of type 2 cytochrome b5 to modulate 17,20-lyase activity of human P450c17. (PMID: 11867265) Soucy P … Luu-The V (The Journal of steroid biochemistry and molecular biology 2002) 2 3

Products for CYB5B Gene

Sources for CYB5B Gene