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MT-CYB Gene

protein-coding   GIFtS: 45
GCID: GCMTP014749

Mitochondrially Encoded Cytochrome B

(Previous name: cytochrome b)
(Previous symbol: MTCYB)
  See MT-CYB-related diseases
at
MalaCards
 

Aliases
for MT-CYB gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Mitochondrially Encoded Cytochrome B1     Complex III Subunit 33
MTCYB1 2 3     Complex III Subunit III3
Cytochrome B1 2     Cytochrome B-C1 Complex Subunit 33
CYTB2 3     Ubiquinol-Cytochrome-C Reductase Complex Cytochrome B Subunit3
COB3     

External Ids:    HGNC: 74271   Entrez Gene: 45192   Ensembl: ENSG000001987277   OMIM: 5160205   UniProtKB: P001563   

Export aliases for MT-CYB gene to outside databases

Previous GC identifer: GC00U921586


Summaries
for MT-CYB gene

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for MT-CYB Gene:
MT-CYB (mitochondrially encoded cytochrome b) is a protein-coding gene. Diseases associated with MT-CYB include myiasis, and mitochondrial respiratory chain complex iii, cytochrome b subunit.

UniProtKB/Swiss-Prot: CYB_HUMAN, P00156
Function: Component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex),
which is a respiratory chain that generates an electrochemical potential coupled to ATP synthesis (By similarity)

Gene Wiki entry for MT-CYB Gene


Genomic Views
for MT-CYB gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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TryGeneCards Plus		 Regulatory elements:
   Search for regulatory transcription factor binding sites for MT-CYB
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for MT-CYB

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MT-CYB


Genomic Location:
Chromosome:MT   

Ensembl cytogenetic band:  MT   HGNC chromosome: mitochondria

GeneLoc information about chromosome MT         GeneLoc Exon Structure

GeneLoc location for GCMTP014749:       (about GC identifiers)

Start:
 14,747 bp from pter      End:
 15,887 bp from pter
Size:
 1,141 bases      Orientation:
 plus strand

Proteins
for MT-CYB gene

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: CYB_HUMAN, P00156 (See protein sequence)
Recommended Name: Cytochrome b  
Size: 380 amino acids; 42718 Da
Cofactor: Binds 2 heme groups non-covalently (By similarity)
Subunit: The bc1 complex contains 11 subunits: 3 respiratory subunits (cytochrome b, cytochrome c1 and
Rieske/UQCRFS1), 2 core proteins (UQCRC1/QCR1 and UQCRC2/QCR2) and 6 low-molecular weight proteins (UQCRH/QCR6,
UQCRB/QCR7, UQCRQ/QCR8, UQCR10/QCR9, UQCR11/QCR10 and a cleavage product of Rieske/UQCRFS1)
Miscellaneous: Heme 1 (or BL or b562) is low-potential and absorbs at about 562 nm, and heme 2 (or BH or b566) is
high-potential and absorbs at about 566 nm (By similarity)
Secondary accessions: Q34786 Q8HBR6 Q8HNQ0 Q8HNQ1 Q8HNQ9 Q8HNR4 Q8HNR7 Q8W7V8 Q8WCV9 Q8WCY2
Q8WCY7 Q8WCY8 Q9B1A6 Q9B1B6 Q9B1B8 Q9B1D4 Q9B1X6 Q9B2V0 Q9B2V8 Q9B2W0 Q9B2W3 Q9B2W8 Q9B2X1
Q9B2X7 Q9B2X9 Q9B2Y3 Q9B2Z0 Q9B2Z4 Q9T6H6 Q9T9Y0 Q9TEH4

Explore the universe of human proteins at neXtProt for MT-CYB: NX_P00156

Explore proteomics data for MT-CYB at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

    • See MT-CYB Protein Expression from SPIRE MOPED, PaxDB, and MaxQB


    ENSEMBL proteins: 
     ENSP00000354554  
    Reactome Protein details: P00156

    MT-CYB Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

         		 Search eBioscience for Proteins for MT-CYB 

         		 Search antibodies-online for proteins for MT-CYB 

         		antibodies-online peptides for MT-CYB

    MT-CYB Antibody Products:

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    antibodies-online antibodies for MT-CYB (32 products) 

    MT-CYB Assay Products:

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    antibodies-online kits for MT-CYB (22 products) 

    Domains /
    Families
    for MT-CYB gene

    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus    		 HGNC Gene Families:
    comIII: Mitochondrial respiratory chain complex / Complex III
    CYB: Cytochrome b genes

    5 InterPro protein domains:
     IPR027387 Cytb/b6-like
     IPR016174 Di-haem_cyt_TM
     IPR005797 Cyt_b/b6_N
     IPR016175 Cyt_b/b6
     IPR005798 Cyt_b/b6_C

    Graphical View of Domain Structure for InterPro Entry P00156

    ProtoNet protein and cluster: P00156

    UniProtKB/Swiss-Prot: CYB_HUMAN, P00156
    Similarity: Belongs to the cytochrome b family


    Find genes that share domains with MT-CYB           About GenesLikeMe


    Function
    for MT-CYB gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CYB_HUMAN, P00156
    Function: Component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex),
    which is a respiratory chain that generates an electrochemical potential coupled to ATP synthesis (By similarity)

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008121ubiquinol-cytochrome-c reductase activity ----
    GO:0009055electron carrier activity ----
    GO:0016491oxidoreductase activity ----
    GO:0046872metal ion binding ----
         
    Find genes that share ontologies with MT-CYB           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for MT-CYB

    miRNA
    Products:            		miRTarBase miRNAs that target MT-CYB:
    hsa-mir-140-5p (MIRT045822), hsa-mir-100-5p (MIRT048433), hsa-mir-29a-3p (MIRT049965), hsa-mir-652-3p (MIRT039477), hsa-mir-1301-3p (MIRT035968), hsa-mir-423-3p (MIRT042521), hsa-mir-744-5p (MIRT037484), hsa-mir-186-5p (MIRT045100)

    Block miRNA regulation of human, mouse, rat MT-CYB using miScript Target Protectors
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    Inhib. RNA
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    Gene Editing
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    In Situ Assay
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    Localization
    for MT-CYB gene

    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

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    Subcellular locations from UniProtKB/Swiss-Prot
    CYB_HUMAN, P00156: Mitochondrion inner membrane; Multi-pass membrane protein (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    nucleus3
    plasma membrane3
    chloroplast2
    extracellular1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0005743mitochondrial inner membrane ----
    GO:0005750mitochondrial respiratory chain complex III ----
    GO:0016020membrane ----
    GO:0016021integral component of membrane ----

    Find genes that share ontologies with MT-CYB           About GenesLikeMe


    Pathways & Interactions
    for MT-CYB gene

    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for MT-CYB About    
    See pathways by source

    		      Powered
    by    		     
    SuperPathContained pathways About
    1Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    		Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.0.81
    		Oxidative phosphorylation0.64
    		Respiratory electron transport0.81
    		Parkinson's disease0.57
    		Electron Transport Chain0.75
    		Huntington's disease0.45
    		The citric acid (TCA) cycle and respiratory electron transport0.71
    		Non-alcoholic fatty liver disease (NAFLD)0.41
    2Metabolism
    		Metabolism0.38
    		Metabolic pathways0.38
    3Alzheimer's disease
    		Alzheimer's disease0.44
    4Cardiac muscle contraction
    		Cardiac muscle contraction


    Find genes that share SuperPaths with MT-CYB           About GenesLikeMe

    Pathways by source                                   See SuperPaths
    Show all pathways


    1 BioSystems Pathway for MT-CYB
        Electron Transport Chain

    1 Reactome Pathway for MT-CYB
        Respiratory electron transport


    Selected Kegg Pathways  (Kegg details for MT-CYB) (see all 7):
        Oxidative phosphorylation
    Metabolic pathways
    Cardiac muscle contraction
    Non-alcoholic fatty liver disease (NAFLD)
    Alzheimer's disease

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MT-CYB
    Interactions:

        Search GeneGlobe Interaction Network for MT-CYB

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for MT-CYB (P001563 ENSP000003545544) via UniProtKB, MINT, STRING, and/or I2D (see all 106)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UQCRFS1P479853, ENSP000003063974I2D: score=2 STRING: ENSP00000306397
    UPF1Q929003, ENSP000002628034I2D: score=1 STRING: ENSP00000262803
    CYC1P085743, ENSP000003171594I2D: score=5 STRING: ENSP00000317159
    MT-CO1P003953, ENSP000003544994I2D: score=1 STRING: ENSP00000354499
    OXA1LQ150703, ENSP000002858484I2D: score=1 STRING: ENSP00000285848
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006122mitochondrial electron transport, ubiquinol to cytochrome c ----
    GO:0022904respiratory electron transport chain ----
    GO:0044237cellular metabolic process ----
    GO:0044281small molecule metabolic process ----

    Find genes that share ontologies with MT-CYB           About GenesLikeMe



    Drugs & Compounds
    for MT-CYB gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MT-CYB (CYB)

    1 HMDB Compound for MT-CYB    About this table
    CompoundSynonyms CAS #PubMed Ids
    Heme(protoporphyrinato)iron (see all 19)14875-96-8--

    1 DrugBank Compound for MT-CYB    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Atovaquone-- 95233-18-4targetinhibitor10593174 10447880 10681344 11181161 11906048 10802314 15718226 12791689 18082162 11991686

    Selected Novoseek inferred chemical compound relationships for MT-CYB gene (see all 72)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ubiquinol 79.5 20 16005845 (4), 10072046 (1), 10971589 (1), 18973379 (1) (see all 10)
    iron-sulfur 77.8 27 15030479 (2), 8394318 (2), 11707449 (2), 8988236 (1) (see all 20)
    atovaquone 76 22 9815231 (2), 11181161 (2), 17118179 (2), 14576156 (1) (see all 12)
    antimycin a 74.9 26 7726562 (2), 19082470 (1), 17935707 (1), 19111365 (1) (see all 13)
    myxothiazol 73.1 3 7726562 (1), 1851092 (1), 8449293 (1)
    citrinin 69.9 7 1851092 (3), 8932536 (1)
    ubiquinone 69.6 9 10416030 (1), 11732343 (1), 19082940 (1), 10072046 (1) (see all 9)
    nadh 66.3 31 9950599 (2), 1854438 (1), 16293425 (1), 18804544 (1) (see all 29)
    funiculosin 66.2 5 1315503 (4), 7957895 (1)
    stigmatellin 65.1 2 1657909 (1), 18258178 (1)



    Find genes that share compounds with MT-CYB           About GenesLikeMe



    Transcripts
    for MT-CYB gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section

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    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000361789(uc022bqw.1)
    miRNA
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    Inhib. RNA
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    Primer
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    GeneLoc Exon Structure


    Expression
    for MT-CYB gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MT-CYB expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    MT-CYB Expression
    About this image

    MT-CYB Protein expression data from MOPED1, PaxDb2 and MaxQB3:     About this image

    MT-CYB Protein Expression
        Custom PCR Arrays for MT-CYB
    Primer
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MT-CYB

    Orthologs
    for MT-CYB gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for MT-CYB gene from Selected species (see all 21)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia mt-Cytb5
    CYTB1    		 mitochondrially encoded cytochrome b5
    CYTB1    		 74.87(n)1
    78.57(a)1    		   MT5
    177111  CYTB_345386101  NP_904340.11 
     141455 
    chicken
    (Gallus gallus)    		 Aves CYTB1 CYTB 73.4(n)
    73.14(a)    		   807641  CYTB_5834855  NP_006926.1 
    lizard
    (Anolis carolinensis)    		 Reptilia CYTB6
    		 cytochrome b (mitochondrion)
    		 71(a)
    		 1 ↔ 1
    		 MT(14068-15207)
    African clawed frog
    (Xenopus laevis)    		 Amphibia Xl.249682 Xenopus laevis transcribed sequence with weak similarity more 75.66(n)    BU152759.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii Dr.296262 Transcribed sequence with weak similarity to protein more 76.09(n)    CK400409.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CYTB1 CYTB 60.04(n)
    61.88(a)    		   192472  CYTB_5835245  NP_008288.1 
    worm
    (Caenorhabditis elegans)    		 Secernentea ctb-16
    		 Cytochrome b
    		 43(a)
    		 1 ↔ 1
    		 MtDNA(4504-5621) WBGene00000829
    baker's yeast
    (Saccharomyces cerevisiae)    		 Saccharomycetes COB(Q0105)4
    COB1    		 Cytochrome b, mitochondrially encoded subunit of the more4
    COB1    		 52.15(n)1
    49.73(a)1    		   17(36540-43647)4
    8545831, 4  NP_009315.11, 4 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons cob1 cob 52.03(n)
    49.29(a)    		   814577  cob_13449309  NP_085492.1 


    ENSEMBL Gene Tree for MT-CYB (if available)
    TreeFam Gene Tree for MT-CYB (if available)

    Paralogs
    for MT-CYB gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MT-CYB gene
    6 SIMAP similar genes for MT-CYB using alignment to 1 protein entry:     CYB_HUMAN:
    CYB    CytB    Cytb    cytb    CYTB    cytB

    Find genes that share paralogs with MT-CYB           About GenesLikeMe


    Selected Pseudogenes.org Pseudogenes for MT-CYB (see all 59)
    PGOHUM00000242402 PGOHUM00000242479 PGOHUM00000242516 PGOHUM00000242810 PGOHUM00000242820


    Genomic Variants
    for MT-CYB gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for MT-CYB (see all 39)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr MT posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    VAR_0136564
    		Cardiomyopathy, infantile histiocytoid (CMIH)4--see VAR_0136562 G D mis40--------
    VAR_0083884
    		Colorectal cancer4--see VAR_0083882 R H mis40--------
    VAR_0083894
    		Colorectal cancer4--see VAR_0083892 F L mis40--------
    VAR_0021974
    		Leber hereditary optic neuropathy (LHON)4--see VAR_0021972 D N mis40--------
    VAR_0021994
    		Leber hereditary optic neuropathy (LHON)4--see VAR_0021992 V M mis40--------
    VAR_0155724
    		----see VAR_0155722 I V mis40--------
    rs30883091,2,4
    		----see VAR_0136552 mis40--------
    VAR_0155714
    		----see VAR_0155712 A T mis40--------
    VAR_0136654
    		----see VAR_0136652 I V mis40--------
    VAR_0136664
    		----see VAR_0136662 V M mis40--------

    HapMap Linkage Disequilibrium report for MT-CYB (14747 - 15887 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for MT-CYB: --
    Human Gene Mutation Database (HGMD): MT-CYB
    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing MT-CYB
    DNA2.0 Custom Variant and Variant Library Synthesis for MT-CYB

    Disorders / Diseases
    for MT-CYB gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus    		 OMIM gene information: 516020    OMIM disorders: --

    UniProtKB/Swiss-Prot: CYB_HUMAN, P00156
  • Note=Defects in MT-CYB are a rare cause of mitochondrial dysfunction underlying different myopathies.
    They include mitochondrial encephalomyopathy, hypertrophic cardiomyopathy (HCM), and sporadic mitochondrial
    myopathy (MM). In mitochondrial myopathy, exercise intolerance is the predominant symptom. Additional features
    include lactic acidosis, muscle weakness and/or myoglobinuria. Defects in MTCYB are also found in cases of
    exercise intolerance accompanied by deafness, mental retardation, retinitis pigmentosa, cataract, growth
    retardation, epilepsy (multisystem disorder)
  • Cardiomyopathy, infantile histiocytoid (CMIH) [MIM:500000]: A heart disease characterized by the presence
    of pale granular foamy histiocyte-like cells within the myocardium. It usually affects children younger than 2
    years of age, with a clear predominance of females over males. Infants present with dysrhythmia or cardiac
    arrest. The clinical course is usually fulminant, sometimes simulating sudden infant death syndrome. Note=The
    disease is caused by mutations affecting the gene represented in this entry
  • Leber hereditary optic neuropathy (LHON) [MIM:535000]: A maternally inherited disease resulting in acute
    or subacute loss of central vision, due to optic nerve dysfunction. Cardiac conduction defects and neurological
    defects have also been described in some patients. LHON results from primary mitochondrial DNA mutations
    affecting the respiratory chain complexes. Note=The disease is caused by mutations affecting distinct genetic
    loci, including the gene represented in this entry

    • Selected diseases for MT-CYB (see all 29):    
    About MalaCards
    myiasis    mitochondrial respiratory chain complex iii, cytochrome b subunit    mt-cyb-related recurrent myoglobinuria    infantile histiocytoid cardiomyopathy
    colorectal cancer    obesity    hepatoerythropoietic porphyria    malaria
    colonic benign neoplasm    morbid obesity    colonic adenoma recurrence, reduced risk of    generalized dystonia
    colon cancer, somatic    cutaneous leishmaniasis    leber hereditary optic neuropathy    chronic granulomatous disease
    obesity, severe, and type ii diabetes    obesity, autosomal dominant    leishmaniasis    obesity, late-onset

    7 inferred disease relationships from the University of Copenhagen DISEASES database for MT-CYB:
    Malaria     Chronic granulomatous disease     Mitochondrial myopathy     Leber hereditary optic neuropathy
    Leishmaniasis     Chagas disease     Myiasis

    Find genes that share disorders with MT-CYB           About GenesLikeMe

    Selected Novoseek inferred disease relationships for MT-CYB gene (see all 19)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    granulomatous disease chronic 75.9 18 8101486 (2), 1323464 (2), 2243141 (1), 1655460 (1) (see all 15)
    malaria avian 67.1 2 15812672 (1), 15791538 (1)
    lebers hereditary optic neuropathy 48.5 1 1764087 (1)
    iron deficiency 26 2 16137899 (1), 12949720 (1)
    malaria 22.2 5 16159551 (1), 19436742 (1), 14965906 (1), 15917236 (1) (see all 5)
    leishmaniasis cutaneous 20.9 1 18271802 (1)
    myopathy 14 1 14977419 (1)
    hereditary hemochromatosis 8.96 1 16137899 (1)
    parkinson disease 5.51 5 12375058 (2), 12391595 (1)
    aids 4.41 2 11181161 (2)

    GeneTests: MT-CYB
    GeneReviews: MT-CYB
    Genetic Association Database (GAD): MT-CYB

    Export disorders for MT-CYB gene to outside databases

    Publications
    for MT-CYB gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

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    PubMed articles for MT-CYB gene, integrated from 10 sources (see all 383):
    (articles sorted by number of sources associating them with MT-CYB)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. The mtDNA 15497 G/A polymorphism in cytochrome b in severe obese subjects from Southern Italy. (PubMed id 17015183)1, 4, 9 Liguori R....Sacchetti L. (Nutr Metab Cardiovasc Dis 2006)
    2. Golden mean to longevity: rareness of mitochondrial cytochrome b variants in centenarians but not in patients with Parkinson's disease. (PubMed id 12391595)1, 4, 9 Tanaka M....Yagi K. (J. Neurosci. Res. 2002)
    3. Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. (PubMed id 10508508)1, 2 Andrews R.M.... Howell N. (Nat. Genet. 1999)
    4. Sequence and organization of the human mitochondrial genome. (PubMed id 7219534)1, 2 Anderson S.... Young I.G. (Nature 1981)
    5. Pneumocystis carinii cytochrome b mutations are associated with atovaquone exposure in patients with AIDS. (PubMed id 11181161)7, 9 Kazanjian P....Meshnick S.R. (J. Infect. Dis. 2001)
    6. Characterization of cytochrome b from Toxoplasma gondii and Q(o) domain mutations as a mechanism of atovaquone-resistance. (PubMed id 10802314)7, 9 McFadden D.C....Boothroyd J.C. (Mol. Biochem. Parasitol. 2000)
    7. A novel gly290asp mitochondrial cytochrome b mutation linked to a complex III deficiency in progressive exercise intolerance. (PubMed id 8910895)2, 9 Dumoulin R.... Mousson B. (Mol. Cell. Probes 1996)
    8. Forced cytochrome B gene mutation expression induces mitochondrial proliferation and prevents apoptosis in human uroepithelial SV-HUC-1 cells. (PubMed id 19569044)1, 9 Dasgupta S....Sidransky D. (Int. J. Cancer 2009)
    9. Interaction of mitochondrial thioredoxin with glucocorticoid receptor and NF-kappaB modulates glucocorticoid receptor and NF-kappaB signalling in HEK-293 cells. (PubMed id 19570036)1, 9 Psarra A.M....Spyrou G. (Biochem. J. 2009)
    10. The deleterious G15498A mutation in mitochondrial DNA-encoded cytochrome b may remain clinically silent in homoplasmic carriers. (PubMed id 14735157)1, 9 Haut S....Slama A. (Eur. J. Hum. Genet. 2004)

    External Searches for MT-CYB gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

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     ANDOR
    Aliases
    Disorders
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      Query String
    		PubMed
    OMIM
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    Genome Databases showing MT-CYB gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 4519 HGNC: 7427 Ensembl:ENSG00000198727 euGenes: HUgn4519 ECgene: MT-CYB Kegg: 4519
    H-InvDB: MT-CYB

    Other Databases showing MT-CYB gene

    (According to HUGE)
    About This Section

    TryGeneCards Plus    		   --

    Specialized Databases showing MT-CYB gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for MT-CYB Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=MT-CYB[genesymbol]

    Intellectual Property
    for MT-CYB gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus    		Patent Information for MT-CYB gene:
    Search GeneIP for patents involving MT-CYB

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