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CYB5A (Cytochrome B5 Type A (microsomal))

Written2015-11Valentina E Gomez, Amir Avan, Godefridus J Peters, Elisa Giovannetti
Department of Medical Oncology, VU University Medical Center, Amsterdam, De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands.(VEG, GJP, EG) gj.peters@vumc.nl; elisa.giovannetti@gmail.com; Molecular Medicine group, Department of Modern Sciences and Technologies, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran (AA) amir_avan@yahoo.com; Cancer Pharmacology Lab, AIRC Start-Up Unit, University of Pisa, Pisa , Italy (EG) elisa.giovannetti@gmail.com

Abstract Review on Cytochrome B5 Type A, with data on DNA/RNA, on the protein encoded and the diseases in which the gene has been implicated.

(Note : for Links provided by Atlas : click)

Identity

Alias_namesCYB5
cytochrome b-5
cytochrome b5 (microsomal)
cytochrome b5 type A (microsomal)
Other aliasMCB5
Microsomal Cytochrome B5 Type A
Cytochrome B5 (Microsomal)
Cytochrome B-5
Cytochrome B5
Type 1 Cyt-B5.
HGNC (Hugo) CYB5A
LocusID (NCBI) 1528
Atlas_Id 53723
Location 18q22.3  [Link to chromosome band 18q22]
Location_base_pair Starts at 74253292 and ends at 74292016 bp from pter ( according to hg19-Feb_2009)  [Mapping CYB5A.png]
Local_order Based on MapViewer, genes flanking are:
-FBX015 (F-box protein 15); 18q22.3
-TIMM21 (Translocase of Inner Mitochondrial Membrane 21 Homolog (yeast); 18q22.3
-CYB5A; 18q22.3
-C18orf63 (Chromosome 18 Open Reading Frame 63); 18q22.3
-FAUP1 (FBR-MuSV-Associated Ubiquitously Expressed (fox derived) Pseudogene 1; 18q22.3
 
  Figure 1. Localization of CYB5A on chromosome 18, q22.3. CYB5A starts from 74250847 and ends at 74292016 bp.
Fusion genes
(updated 2016)
CYB5A (18q22.3) / DCC (18q21.2)CYB5A (18q22.3) / RPL10 (Xq28)CYB5A (18q22.3) / ST14 (11q24.3)
SLC20A2 (8p11.21) / CYB5A (18q22.3)

DNA/RNA

Description The CYB5A gene is situated on chromosome 18, starting from 74250847 and ending at 74292016 bp. The gene encodes a membrane-bound cytochrome protein.
Transcription For this gene, seven alternatively spliced transcript variants have been identified (CYB5A-001, -002, -003, -004, -005, -006 and -007). Variants -001, -002, -005 and -006 are transcripts encoding for a protein containing 134, 98 and 124, respectively. The remaining variants do not code for a protein product: Variant -007 is a processed transcript containing 4 exons, whereas variants -003 and -004 have retained introns.

Protein

Description CYB5A belongs to the cytochrome b5 family of electron transport proteins found in yeasts, plants and animals. As a product of alternative splicing, the CYB5A gene encodes three distinct protein isoforms; the 134 amino acid membrane-bound form with a predicted molecular weight of 15,3 kDa, the 98 amino acid cytoplasmic form with 11,3 kDa and a 98 residues isoform from which experimental confirmation is lacking. The membrane-bound protein is composed of a single polypeptide chain folded into two domains which are structurally independent. A non-polar fragment, able to anchor the polypeptide chain to the membrane and a polar, heme-binding fragment with catalytic activity.
Expression The expression of cytochrome B type A seems to be highly regulated in some mammals. In rats with hypothyroidism, for instance, increased CYB5A levels have been found. Furthermore, a compound called propylthiouracil, which was used to treat hyperthyroidism triggered a similar effect, leading to a 50% increase in cytochrome B type A levels. Huang and colleagues studied the transcriptional regulation of human adrenal NClH295A cells and found that it was regulated by Sp3, SF1, GATA-6 and NF-1C, four of the five factors which also exert regulating effects on P450c17.
Function Cytochrome B5 Type A is a hemoprotein which serves as an electron carrier in various biochemical reactions. Its most important function is the NADPH-dependent reduction of methemoglobin to ferrous hemoglobin, a factor required for stearyl-CoA-desaturase activity. Morevoer, cytochrome B5 Type A participates in fatty acid desaturation, sterol metabolism and cytochrome P450-catalyzed reactions.
Homology The CYB5A gene is conserved in Rhesus monkey, chimpanzee, cow, dog, rat, mouse, chicken, frog, mosquito, fruit fly, C. elegans, rice and A. thaliana.

Mutations

Germinal A homozygous splice site mutation in the CYB5A gene in a patient with type IV hereditary methemoglobinemia was identified by Steggles and colleagues. The group isolated mRNA from reticulocytes and leukocytes from the patient and analyzed the CYB5A cDNA sequences by DNA sequencing. They found a 16-bp deletion in the cDNA which led to a new in-frame termination codon, thereby producing a truncated protein of 45 amino acid residues. Genomic DNA analysis revealed an AG-to-GC modification in the consensus 3' splicing junction of intron 1. The presence of this modification renders the splicing machinery to make use of the nearest AG in exon 2 as an alternative splice site, resulting in a 16-bp deletion in the mRNA.
Somatic Additionally, a survey in the COSMIC mutation database (accession date: 6 November 6, 2015) revealed a total of 24 mutations present in different human tumors.

CDS Mutation

AA Mutation

Tissue

c.375G>C

p.L125F

Urinary tract

c.369C>T

p.V123V

Haematopoietic and lymphoid

c.14C>T

p.S5L

Haematopoietic and lymphoid

c.232A>C

p.T78P

Breast

c.172G>A

p.D58N

Breast

c.45G>A

p.E15E

Breast

c.48G>T

p.E16D

Large intestine

c.31T>C

p.Y11H

Large intestine

c.366C>T

p.A122A

Endometrium

c.138T>C

p.G46G

Kidney

c.117A>T

p.K39N

Liver

c.375G>C

p.L125F

Lung

c.245 246GG>TT

p.G82>?

Lung

c.100G>T

p.V34L

Upper aerodisgestive tract

c.7G>C

p.E3Q

Oesophagus

c.382C>T

R128C

Skin

c.256C>T

p.P86S

Skin

c.227C>T

p.S76F

Skin

c.339G>A

p.W113*

Skin

c.367G>C

p.V123L

Stomach

c.383G>A

p.R128H

Stomach

c.22G>A

p.A8T

Stomach

c.181G>C

p.E61Q

Thyroid

c.382C>T

p.R128C

Skin


Table 1. CYB5A mutations present in distinct types of tumors. The table includes the DNA modification (CDS Mutation), protein modification (AA Mutation), tissue and type of mutation (c.369C>T; c.45G>A; c.366C>T; c.138T>C: Substitution-coding silent, c.339G>A: Substitution-nonsense, c.245 246GG>TT: Complex, other: Substitution-missense).

Implicated in

Note
  
Entity Breast cancer
Note The effects of cytochrome b5 on breast cancer remain unclear. A proteomic approach addressed by Neubauer and collaborators found differences in the cytochrome b5 levels of sensitive to tamoxifen (ER+/PR+) and less sensitive (ER+/PR-) mammary tumor specimens. The ER+/PR+ samples exhibited decreased levels of cytochrome b5 and this lead the group to suggest that the differential susceptibility against tamoxifen might, in part be explained, as a result of aberrant cytochrome b5-dependent metabolism.
  
  
Entity Pancreatic cancer
Note CYB5A has been recently identified as a prognostic factor for Pancreatic Cancer Adenocarcinoma (PDAC). Giovannetti and collaborators performed comparative genomic hybridization studies in resected patients and found a significant correlation between decreased survival and the loss of the cytoband 18q22.3, where CYB5A is located. Analysis of mRNA and protein levels of other cohorts revealed the prognostic value of CYB5A: decreased CYB5A expression levels were associated with shorter survival. In vivo orthotopic models with patient-derived CYB5A+ cells showed a significant reduction in tumor size coupled with increased survival compared to the controls. Interestingly, additional gain- and loss-of function studies performed by the group revealed a novel role of CYB5A, namely, autophagy induction.
  
  
Entity Hepatocellular carcinoma (HCC)
Note Lee and collaborators addressed a proteomic approach in order to identify novel biomarkers in resected tumor and adjacent non-malignant tissue samples of 80 HCC patients. This study revealed that CYB5A significantly correlated with serum AFP, a biomarker commonly used for HCC surveillance. Moreover they suggested that its decreased levels might be a result of the disruption of the membrane-bound polysome attachment, which is required for cytochrome b5 type A synthesis.
  
  
Entity Lung squamous cell carcinoma
Note Sriram and colleagues analyzed 62 primary lung SCCs (28 with recurrence and 34 with no evidence of recurrence) using a whole-genome aCGH microarray to identify genomic copy number alterations specific to tumors. They identified CYB5A among prognostic genes that had lower copy number in the lung SCC of patients who recurred (Sriram et al., 2012). Moreover, they demonstrated association of the reduced copy number and mRNA expression of SOCS6 with disease recurrence in SCC patients.
  
  
Entity Ovarian cancer
Note Cortesi et al., performed a comparative proteomic study on biopsies from six consecutive patients with endometrioid or serous ovarian carcinoma who had not been previously treated with chemotherapy prior to surgical resection, in order to recognize potential biomarkers. They identified CYB5A among the proteins separated by 2-DE electrophoresis and detected by MS analysis.
  
  
Entity Colorectal tumors
Note Agostini and collaborators evaluated the value of ten markers including CYB5A (D18S58) in 44 CRC patients, who underwent surgery using a multiplex PCR assay for a rapid and proper classification of tumor microsatellite instability (MSI)-H, MSI-L and MSS. They revealed that a complete panel of these markers could allow the accurate evaluation of tumor MSI status in CRC patients, supporting further investigations on the prognostic value of CYB5A and other markers in management of CRC patients.
  
  
Entity Gastric Cancer
Note Nair and colleagues carried out gene expression analysis in Singapore and UK Gastric cancer datasets using GeneSpring. This study showed the upregulation of CYB5A in the Singapore's Population (Nair et al., 2014).
  
  
Entity Rheumatoid arthritis (RA)
Note RA is characterized by decreased androgens levels and CYB5A acts as a cofactor of one of the two enzymes responsible for de novo androgens synthesis, cytochrome P450 17A1 (17,20-lyase). For this reason, Stark and collaborators analyzed the presence of Single Nucleotide Polymorphisms (SNPs) in the CYB5A gene in two published RA Genome Wide Association Study (GWAS) datasets. Subsequently, cytochrome b5 expression analyses as well as androgen production after steroid conversion were evaluated in candidate SNPs from a RA case-control study. Among the most important findings was the identification of a SNP in CYB5A, designated as rs1790834, which was associated to decreased risk of RA. The group suggested that rs1790834 might exert its protective effects by increasing the capacity of androgen synthesis.
  
  
Entity Type 2 diabetes and adiposity
Note Huang and colleagues performed whole exome sequencing in order to identify potential functional coding variants affecting metabolic processes associated with increased risk of type 2 diabetes. Their analyses revealed a SNP in CYB5A, designated as rs7238987, which was significantly associated with pre-diabetic traits such as Percentage Body Fat (PFAT) and Body Mass Index (BMI). All together, the group identified a potential new locus for adiposity and higher risk of type 2 diabetes. Nevertheless, functional studies validating these results are still lacking.
  
  
Entity Cushing' Syndrome
Note The effects of cytochrome b5 on cytochrome P450 17A1 have been shown by distinct research groups. Since Cushing's syndrome is characterized by abnormalities in the production of cortisol and adrenal androgens, the expression levels and activity of cytochrome b5 in this condition have also been evaluated. Sakai and colleagues performed in vitro biochemical assays on adrenocortical adenoma tissue from Cushin's syndrome patients and found high levels of cytochrome b5, which correlated with higher 17,20-lyase activity. Moreover, an immunohistochemical study performed by Yanase and collaborators revealed high cytochrome b5 levels in all adrenocortical layers in adrenal glands, with a particularly intense immunoreactivity in the zona reticularis, providing evidence for the functional association between cytochrome b5 type A and the production of adrenal androgens.
  

To be noted

This work was supported by the AIRC-Start-Up, Istituto Toscano Tumori (to EG) CCA Foundation (#2012-5-07 to EG and GJP) and "The Law Offices of Peter G. Angelos Grant" from the Mesothelioma Applied Research Foundation (to VEG, GJP and EG) grants.

Bibliography

A ten markers panel provides a more accurate and complete microsatellite instability analysis in mismatch repair-deficient colorectal tumors
Agostini M, Enzo MV, Morandi L, Bedin C, Pizzini S, Mason S, Bertorelle R, Urso E, Mescoli C, Lise M, Pucciarelli S, Nitti D
Cancer Biomark 2010;6(1):49-61
PMID 20164541
 
Differential expression of CYB5A in Chinese and European pig breeds due to genetic variations in the promoter region
Bai Y, Zhang JB, Xue Y, Peng YL, Chen G, Fang MY
Anim Genet 2015 Feb;46(1):16-22
PMID 25516134
 
Unraveling the complexity of autophagy: Potential therapeutic applications in Pancreatic Ductal Adenocarcinoma
Gómez VE, Giovannetti E, Peters GJ
Semin Cancer Biol 2015 Dec;35:11-9
PMID 26408419
 
A splicing mutation in the cytochrome b5 gene from a patient with congenital methemoglobinemia and pseudohermaphrodism
Giordano SJ, Kaftory A, Steggles AW
Hum Genet 1994 May;93(5):568-70
PMID 8168836
 
Whole exome sequencing identifies variation in CYB5A and RNF10 associated with adiposity and type 2 diabetes
Huang K, Nair AK, Muller YL, Piaggi P, Bian L, Del Rosario M, Knowler WC, Kobes S, Hanson RL, Bogardus C, Baier LJ
Obesity (Silver Spring) 2014 Apr;22(4):984-8
PMID 24151200
 
Regulation of cytochrome b5 gene transcription by Sp3, GATA-6, and steroidogenic factor 1 in human adrenal NCI-H295A cells
Huang N, Dardis A, Miller WL
Mol Endocrinol 2005 Aug;19(8):2020-34
PMID 15831526
 
A missense mutation in the human cytochrome b5 gene causes 46,XY disorder of sex development due to true isolated 17,20 lyase deficiency
Idkowiak J, Randell T, Dhir V, Patel P, Shackleton CH, Taylor NF, Krone N, Arlt W
J Clin Endocrinol Metab 2012 Mar;97(3):E465-75
PMID 22170710
 
Photo-initiated crosslinking extends mapping of the protein-protein interface to membrane-embedded portions of cytochromes P450 2B4 and b5
Jecmen T, Ptáková R, Cerná V, Dranská H, Hodek P, Stiborová M, Hudecek J,Sulc M.
Methods 2015 Nov 1;89:128-37
PMID 26235815
 
The membrane-interactive tail of cytochrome b(5) can function as a stop-transfer sequence in concert with a signal sequence to give inversion of protein topology in the endoplasmic reticulum
Kaderbhai MA, Morgan R, Kaderbhai NN
Arch Biochem Biophys 2003 Apr 15;412(2):259-66
PMID 12667490
 
Ataxia-Telangiectasia and RAD3-Related and Ataxia-Telangiectasia-Mutated Proteins in Epithelial Ovarian Carcinoma: Their Expression and Clinical Significance
Lee B, Lee HJ, Cho HY, Suh DH, Kim K, No JH, Kim H, Kim YB
Anticancer Res 2015 Jul;35(7):3909-16
PMID 26124337
 
Proteomic expression signature distinguishes cancerous and nonmalignant tissues in hepatocellular carcinoma
Lee NP, Chen L, Lin MC, Tsang FH, Yeung C, Poon RT, Peng J, Leng X, Beretta L, Sun S, Day PJ, Luk JM
J Proteome Res 2009 Mar;8(3):1293-303
PMID 19161326
 
Breast cancer proteomics by laser capture microdissection, sample pooling, 54-cm IPG IEF, and differential iodine radioisotope detection
Neubauer H, Clare SE, Kurek R, Fehm T, Wallwiener D, Sotlar K, Nordheim A, Wozny W, Schwall GP, Poznanović S, Sastri C, Hunzinger C, Stegmann W, Schrattenholz A, Cahill MA
Electrophoresis 2006 May;27(9):1840-52
PMID 16645950
 
In-vitro evidence for the regulation of 17,20-lyase activity by cytochrome b5 in adrenocortical adenomas from patients with Cushing's syndrome
Sakai Y, Yanase T, Hara T, Takayanagi R, Haji M, Nawata H
Clin Endocrinol (Oxf) 1994 Feb;40(2):205-9
PMID 8137519
 
Array-comparative genomic hybridization reveals loss of SOCS6 is associated with poor prognosis in primary lung squamous cell carcinoma
Sriram KB, Larsen JE, Savarimuthu Francis SM, Wright CM, Clarke BE, Duhig EE, Brown KM, Hayward NK, Yang IA, Bowman RV, Fong KM
PLoS One 2012;7(2):e30398
PMID 22363434
 
CYB5A polymorphism increases androgens and reduces risk of rheumatoid arthritis in women
Stark K, Straub RH, Rovenský J, Blazicková S, Eiselt G, Schmidt M
Arthritis Res Ther 2015 Mar 11;17:56
PMID 25890314
 
Probing the transmembrane structure and topology of microsomal cytochrome-p450 by solid-state NMR on temperature-resistant bicelles
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Citation

This paper should be referenced as such :
Gomez VE, Avan A, Peters GJ, Giovanetti E
CYB5A (Cytochrome B5 Type A (microsomal));
Atlas Genet Cytogenet Oncol Haematol. in press
On line version : http://AtlasGeneticsOncology.org/Genes/CYB5AID53723ch18q22.html


External links

Nomenclature
HGNC (Hugo)CYB5A   2570
Cards
AtlasCYB5AID53723ch18q22
Entrez_Gene (NCBI)CYB5A  1528  cytochrome b5 type A
AliasesCYB5; MCB5
GeneCards (Weizmann)CYB5A
Ensembl hg19 (Hinxton)ENSG00000166347 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000166347 [Gene_View]  chr18:74253292-74292016 [Contig_View]  CYB5A [Vega]
ICGC DataPortalENSG00000166347
TCGA cBioPortalCYB5A
AceView (NCBI)CYB5A
Genatlas (Paris)CYB5A
WikiGenes1528
SOURCE (Princeton)CYB5A
Genetics Home Reference (NIH)CYB5A
Genomic and cartography
GoldenPath hg38 (UCSC)CYB5A  -     chr18:74253292-74292016 -  18q22.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CYB5A  -     18q22.3   [Description]    (hg19-Feb_2009)
EnsemblCYB5A - 18q22.3 [CytoView hg19]  CYB5A - 18q22.3 [CytoView hg38]
Mapping of homologs : NCBICYB5A [Mapview hg19]  CYB5A [Mapview hg38]
OMIM250790   613218   
Gene and transcription
Genbank (Entrez)AB209617 AK026310 BC015182 BG196223 CA771478
RefSeq transcript (Entrez)NM_001190807 NM_001914 NM_148923
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CYB5A
Cluster EST : UnigeneHs.465413 [ NCBI ]
CGAP (NCI)Hs.465413
Alternative Splicing GalleryENSG00000166347
Gene ExpressionCYB5A [ NCBI-GEO ]   CYB5A [ EBI - ARRAY_EXPRESS ]   CYB5A [ SEEK ]   CYB5A [ MEM ]
Gene Expression Viewer (FireBrowse)CYB5A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1528
GTEX Portal (Tissue expression)CYB5A
Protein : pattern, domain, 3D structure
UniProt/SwissProtP00167   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP00167  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP00167
Splice isoforms : SwissVarP00167
PhosPhoSitePlusP00167
Domaine pattern : Prosite (Expaxy)CYTOCHROME_B5_1 (PS00191)    CYTOCHROME_B5_2 (PS50255)   
Domains : Interpro (EBI)Cyt_B5-like_heme/steroid-bd    Cyt_B5_heme-BS   
Domain families : Pfam (Sanger)Cyt-b5 (PF00173)   
Domain families : Pfam (NCBI)pfam00173   
Domain families : Smart (EMBL)Cyt-b5 (SM01117)  
Conserved Domain (NCBI)CYB5A
DMDM Disease mutations1528
Blocks (Seattle)CYB5A
PDB (SRS)2I96   
PDB (PDBSum)2I96   
PDB (IMB)2I96   
PDB (RSDB)2I96   
Structural Biology KnowledgeBase2I96   
SCOP (Structural Classification of Proteins)2I96   
CATH (Classification of proteins structures)2I96   
SuperfamilyP00167
Human Protein AtlasENSG00000166347
Peptide AtlasP00167
HPRD08941
IPIIPI00397860   IPI00182933   IPI00871858   IPI00645474   
Protein Interaction databases
DIP (DOE-UCLA)P00167
IntAct (EBI)P00167
FunCoupENSG00000166347
BioGRIDCYB5A
STRING (EMBL)CYB5A
ZODIACCYB5A
Ontologies - Pathways
QuickGOP00167
Ontology : AmiGOaldo-keto reductase (NADP) activity  cytochrome-c oxidase activity  mitochondrial outer membrane  endoplasmic reticulum membrane  cytosol  membrane  integral component of membrane  L-ascorbic acid metabolic process  enzyme binding  heme binding  intracellular membrane-bounded organelle  response to cadmium ion  metal ion binding  oxidation-reduction process  extracellular exosome  hydrogen ion transmembrane transport  
Ontology : EGO-EBIaldo-keto reductase (NADP) activity  cytochrome-c oxidase activity  mitochondrial outer membrane  endoplasmic reticulum membrane  cytosol  membrane  integral component of membrane  L-ascorbic acid metabolic process  enzyme binding  heme binding  intracellular membrane-bounded organelle  response to cadmium ion  metal ion binding  oxidation-reduction process  extracellular exosome  hydrogen ion transmembrane transport  
REACTOMEP00167 [protein]
REACTOME PathwaysR-HSA-196836 [pathway]   
NDEx NetworkCYB5A
Atlas of Cancer Signalling NetworkCYB5A
Wikipedia pathwaysCYB5A
Orthology - Evolution
OrthoDB1528
GeneTree (enSembl)ENSG00000166347
Phylogenetic Trees/Animal Genes : TreeFamCYB5A
HOVERGENP00167
HOGENOMP00167
Homologs : HomoloGeneCYB5A
Homology/Alignments : Family Browser (UCSC)CYB5A
Gene fusions - Rearrangements
Fusion : MitelmanCYB5A/DCC [18q22.3/18q21.2]  
Fusion: TCGACYB5A 18q22.3 DCC 18q21.2 SKCM
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCYB5A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CYB5A
dbVarCYB5A
ClinVarCYB5A
1000_GenomesCYB5A 
Exome Variant ServerCYB5A
ExAC (Exome Aggregation Consortium)CYB5A (select the gene name)
Genetic variants : HAPMAP1528
Genomic Variants (DGV)CYB5A [DGVbeta]
DECIPHERCYB5A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCYB5A 
Mutations
ICGC Data PortalCYB5A 
TCGA Data PortalCYB5A 
Broad Tumor PortalCYB5A
OASIS PortalCYB5A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCYB5A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCYB5A
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch CYB5A
DgiDB (Drug Gene Interaction Database)CYB5A
DoCM (Curated mutations)CYB5A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CYB5A (select a term)
intoGenCYB5A
NCG5 (London)CYB5A
Cancer3DCYB5A(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM250790    613218   
Orphanet3290    12099   
MedgenCYB5A
Genetic Testing Registry CYB5A
NextProtP00167 [Medical]
TSGene1528
GENETestsCYB5A
Target ValidationCYB5A
Huge Navigator CYB5A [HugePedia]
snp3D : Map Gene to Disease1528
BioCentury BCIQCYB5A
ClinGenCYB5A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1528
Chemical/Pharm GKB GenePA27068
Clinical trialCYB5A
Miscellaneous
canSAR (ICR)CYB5A (select the gene name)
Probes
Litterature
PubMed64 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCYB5A
EVEXCYB5A
GoPubMedCYB5A
iHOPCYB5A
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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