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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CYB5A Gene

protein-coding   GIFtS: 56
GCID: GC18M071920

cytochrome b5 type A (microsomal)

(Previous names: cytochrome b-5, cytochrome b5 (microsomal) )
(Previous symbol: CYB5)
 Explore 24 diseases affiliated with
CYB5A via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for CYB5A    

Aliases
for CYB5A gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Cytochrome B5 Type A (Microsomal)1 2     Cytochrome B5 (Microsomal)1
CYB51 2 3     Cytochrome B52
MCB52 3 5     Type 1 Cyt-B52
Cytochrome B-51     Microsomal Cytochrome B5 Type A3

External Ids:    HGNC: 25701   Entrez Gene: 15282   Ensembl: ENSG000001663477   OMIM: 6132185   UniProtKB: P001673   

Export aliases for CYB5A gene to outside databases

Previous GC identifers: GC18M070072 GC18M068652


Summaries
for CYB5A gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for CYB5A:
The protein encoded by this gene is a membrane-bound cytochrome that reduces ferric hemoglobin (methemoglobin) to
ferrous hemoglobin, which is required for stearyl-CoA-desaturase activity. Defects in this gene are a cause of type IV
hereditary methemoglobinemia. Three transcript variants encoding different isoforms have been found for this gene.
(provided by RefSeq, Jun 2010)

UniProtKB/Swiss-Prot: CYB5_HUMAN, P00167
Function: Cytochrome b5 is a membrane bound hemoprotein which function as an electron carrier for several membrane
bound oxygenases

Gene Wiki entry for CYB5A (Cytochrome b5, type A)


Genomic Views
for CYB5A 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000018.9  NC_018929.1  NT_025028.14  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CYB5A gene promoter:
         STAT1   Bach2   NF-YA   CUTL1   NF-YB   CBF-B   CBF-A   CP1A   NF-Y   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CYB5A promoter sequence
   Search SABiosciences Chromatin IP Primers for CYB5A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CYB5A


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 18q23   Ensembl cytogenetic band:  18q22.3   HGNC cytogenetic band: 18q23

CYB5A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CYB5A gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18M071920:  view genomic region     (about GC identifiers)

Start:
 71,920,527 bp from pter      End:
 71,959,251 bp from pter
Size:
 38,725 bases      Orientation:
 minus strand

Proteins
for CYB5A gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: CYB5_HUMAN, P00167 (See protein sequence)
Recommended Name: Cytochrome b5  
Size: 134 amino acids; 15330 Da
Subcellular location: Isoform 1: Endoplasmic reticulum membrane; Single-pass membrane protein; Cytoplasmic side.
Microsome membrane; Single-pass membrane protein; Cytoplasmic side
Subcellular location: Isoform 2: Cytoplasm
Sequence caution: Sequence=AAA63169.1; Type=Erroneous gene model prediction;
1 PDB 3D structure from and Proteopedia for CYB5A:
2I96 (3D)    
Secondary accessions: A8MV91 F8WEU4 Q6IB14
Alternative splicing: 3 isoforms:  P00167-1   P00167-2   P00167-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CYB5A: NX_P00167

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P00167

    • CYB5A Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (3 alternative transcripts): 
    NP_001177736.1  NP_001905.1  NP_683725.1  

    ENSEMBL proteins: 
     ENSP00000299438   ENSP00000341625   ENSP00000436461   ENSP00000381011  
    Reactome Protein details: P00167
    Human Recombinant Protein Products: 
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    ProSpec Recombinant Protein for CYB5A
    Uscn Proteins for CYB5A

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0005741mitochondrial outer membrane TAS--
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0005792microsome ----
    GO:0016021integral to membrane IEA--


    CYB5A for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for CYB5A

    Protein Domains /
    Families
    for CYB5A gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    CYB5A for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR018506 Cyt_B5_heme-BS
     IPR001199 Cyt_B5-like_heme/steroid-bd

    Graphical View of Domain Structure for InterPro Entry P00167

    ProtoNet protein and cluster: P00167

    1 Blocks protein family: IPB001199 Cytochrome b5

    UniProtKB/Swiss-Prot: CYB5_HUMAN, P00167
    Similarity: Belongs to the cytochrome b5 family
    Similarity: Contains 1 cytochrome b5 heme-binding domain


    Function
    for CYB5A gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: CYB5_HUMAN, P00167
    Function: Cytochrome b5 is a membrane bound hemoprotein which function as an electron carrier for several membrane
    bound oxygenases

    miRNA
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    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004033aldo-keto reductase (NADP) activity TAS--
    GO:0004129cytochrome-c oxidase activity TAS1712589
    GO:0019899enzyme binding IPI15680923
    GO:0020037heme binding IEA--
    GO:0046872metal ion binding IEA--


    CYB5A for ontologies           About GeneDecksing


    Animal Models:
         2 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Cyb5):
     homeostasis/metabolism  liver/biliary system 

    CYB5A for phenotypes           About GeneDecksing


    Pathways & Interactions
    for CYB5A gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Vitamin B5 (pantothenate) metabolism
    		Metabolism of vitamins and cofactors0.21
    		Metabolism of water-soluble vitamins and cofactors0.21
    2Vitamin C (ascorbate) metabolism
    		Vitamin C (ascorbate) metabolism1.00
    3Methylene Blue Pathway, Pharmacodynamics
    		Methylene Blue Pathway, Pharmacodynamics1.00
    4Metabolism
    		Metabolism1.00
    5Cytochrome P450 - arranged by substrate type
    		cytochrome P4500.73

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 BioSystems Pathway for CYB5A 
        cytochrome P450

    4        Reactome Pathways for CYB5A
        Metabolism
    Metabolism of vitamins and cofactors
    Metabolism of water-soluble vitamins and cofactors
    Vitamin C (ascorbate) metabolism

    1 PharmGKB Pathway for CYB5A
        Methylene Blue Pathway, Pharmacodynamics


    CYB5A for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CYB5A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

    5/20 Interacting proteins for CYB5A (P001673 ENSP000003416254) via UniProtKB, MINT, STRING, and/or I2D (see all 20)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CYB5R3P003873, ENSP000003384614I2D: score=2 STRING: ENSP00000338461
    CYP17A1P050933, ENSP000003589034I2D: score=2 STRING: ENSP00000358903
    SCDO007673, ENSP000003593804I2D: score=1 STRING: ENSP00000359380
    CYCSP999993, ENSP000003077864I2D: score=3 STRING: ENSP00000307786
    CYP1A1P047983, ENSP000003690504I2D: score=1 STRING: ENSP00000369050
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006766vitamin metabolic process TAS--
    GO:0006767water-soluble vitamin metabolic process TAS--
    GO:0019852L-ascorbic acid metabolic process TAS--
    GO:0022900electron transport chain IEA--
    GO:0044281small molecule metabolic process TAS--


    CYB5A for ontologies           About GeneDecksing



    Drugs & Compounds
    for CYB5A gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CYB5A for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CYB5A

    1 HMDB Compound for CYB5A    About this table
    CompoundSynonyms CAS #PubMed Ids
    Heme(protoporphyrinato)iron (see all 19)14875-96-8--

    2 DrugBank Compounds for CYB5A    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Dimethyl Propionate Ester Heme-- --target--17139284 17016423 10592235
    Heme-- --target--10592235

    10/101 Novoseek chemical compound relationships for CYB5A gene (see all 101)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    benzamidoxime 85.2 4 9351903 (1), 16118330 (1), 15302896 (1), 16973608 (1)
    benzphetamine 83.8 7 7559586 (2), 16182240 (2), 2241682 (1), 2005876 (1) (see all 5)
    17-hydroxypregnenolone 78.9 1 8948449 (1)
    sulfamethoxazole hydroxylamine 75.4 5 15302896 (2), 15862605 (1), 19997042 (1)
    guanoxabenz 71.9 1 9351903 (1)
    nadph 71.5 35 1312930 (4), 2121410 (2), 7926597 (1), 9145912 (1) (see all 26)
    ferric ammonium sulfate 71.3 3 8554320 (2), 8660685 (1)
    3beta-hydroxysteroid 69.7 9 19036885 (1), 11155097 (1), 9625451 (1), 10487714 (1) (see all 9)
    5,16-androstadien-3beta-ol 68.5 1 7578007 (1)
    dimethylnitrosamine 68.1 3 1685398 (1), 8694855 (1), 1444447 (1)

    Search CenterWatch for drugs/clinical trials and news about CYB5A / CYB5 

    Transcripts
    for CYB5A gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for CYB5A gene (3 alternative transcripts): 
    NM_001190807.2  NM_001914.3  NM_148923.3  

    Unigene Cluster for CYB5A:

    Cytochrome b5 type A (microsomal)
    Hs.465413  [show with all ESTs]
    Unigene Representative Sequence: AB209617
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000580678 ENST00000299438 ENST00000340533(uc002llh.3 uc002lli.3 uc021ull.1)
    ENST00000494131 ENST00000583418 ENST00000397914 ENST00000579405 ENST00000579064


    miRNA
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    hsa-miR-124 hsa-miR-506
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    Inhib. RNA
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    Clone
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    Additional cDNA sequence: 

    AB209617.1 AK026310.1 BC015182.1 CR456990.1 M22865.1 M60174.1 S76422.1 

    12 DOTS entries:

    DT.456278  DT.100817242  DT.100817251  DT.100817240  DT.95146350  DT.92451482  DT.100739002  DT.120801034 
    DT.100781541  DT.75146295  DT.91943107  DT.92005836 

    24/279 AceView cDNA sequences (see all 279):

    AA345464 CA312454 AV681972 BU685608 BI768201 NM_148923 AI361362 AI720791 
    N99046 AI247570 BM714384 AI360059 BG209172 W49542 AI149500 CB161829 
    AA424178 BI826190 W93332 BM975097 AA345036 CA771471 AA740779 BC015182 

    GeneLoc Exon Structure


    Expression
    for CYB5A 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CYB5A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ATCTTTTAAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    CYB5A expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    Trophoblast-like cells (Generation of tropho...)
    Posterior foregut-like cells (A scalable, suspensi...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See CYB5A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CYB5A

    SOURCE GeneReport for Unigene cluster: Hs.465413
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    In Situ
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    Orthologs
    for CYB5A 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
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for CYB5A gene from 8/27 species (see all 27)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves CYB5A1 cytochrome b5 type A (microsomal) 76.61(n)
    79.03(a)    		   414798  NM_001001748.1  NP_001001748.1 
    lizard
    (Anolis carolinensis)    		 Reptilia CYB5A6
    		 --
    		 69(a)
    		 1 ↔ 1
    		 4(49035787-49055289)
    tropical clawed frog
    (Xenopus tropicalis)    		 Amphibia 1377133182   -- 75.36(n)    137713318 
    zebrafish
    (Danio rerio)    		 Actinopterygii CD283941.12   -- 71.54(n)    CD283941.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta Cyt-b51 CG2140-PA 54.76(n)
    48.41(a)    		   35688  NM_136450.3  NP_610294.1 
    worm
    (Caenorhabditis elegans)    		 Secernentea cytb-5.11 Protein CYTB-5.1 53.49(n)
    50(a)    		   181510  NM_077934.5  NP_510335.2 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons CB5-E1 cytochrome b5 isoform 1 54.89(n)
    44.83(a)    		   835438  NM_124736.3  NP_200168.1 
    rice
    (Oryza sativa)    		 Liliopsida Os10g05182001 hypothetical protein 58.44(n)
    50.62(a)    		   4349127  NM_001071608.2  NP_001065073.2 


    ENSEMBL Gene Tree for CYB5A (if available)
    TreeFam Gene Tree for CYB5A (if available) 

    Paralogs
    for CYB5A gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CYB5A gene
    CYB5B2  
    7 SIMAP similar genes for CYB5A using alignment to 2 protein entries:     CYB5_HUMAN (see all proteins):
    CYB5    DKFZp686M0619    CYB5B    CYB5R4    FA2H    FADS1
    FADS2P1

    CYB5A for paralogs           About GeneDecksing


    4 Pseudogenes.org Pseudogenes for CYB5A
    PGOHUM00000248114 PGOHUM00000262895 PGOHUM00000256891 PGOHUM00000241014


    Genomic Variants
    for CYB5A gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/876 NCBI SNPs in CYB5A are shown (see all 876)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 18 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs99606651,2
    		C,A,H,--71920071(+) GTAGCT/CGGGAT 3 -- ds50017Minor allele frequency- C:0.07NA WA 14
    rs1919789161,2
    		--71920074(+) GCCGGA/GATTAC 3 -- ds50010--------
    rs17908691,2
    		C,A,H,--71920095(+) CACTAT/CGCCCT 3 -- ds50018Minor allele frequency- C:0.07NA WA CSA 15
    rs1132764001,2
    		--71920110(+) ATTTTG/ATATTT 3 -- ds50011Minor allele frequency- A:0.50CSA 2
    rs1418876701,2
    		--71920237(+) CCAGCC/TGCTAC 3 -- ds50010--------
    rs17885681,2
    		C,F,A,--71920270(-) ATTGTT/CCTACT 3 -- ds500110Minor allele frequency- C:0.07WA NA CSA EA 372
    rs1818518751,2
    		--71920296(+) AACTAC/TAATTT 3 -- ds50010--------
    rs747315801,2
    		C--71920353(+) ATACAA/GTACAT 3 -- ds50010--------
    rs17908701,2
    		C,F,O,H,--71920369(+) CTCAAT/CGAGAT 3 -- ds500131Minor allele frequency- C:0.12MN EA NA NS WA 3466
    rs178041591,2
    		C,F,H,--71920413(+) TCCCGC/AACCTC 3 -- ds500128Minor allele frequency- A:0.13NA NS EA CSA WA 3326

    HapMap Linkage Disequilibrium report for CYB5A (71920527 - 71959251 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for CYB5A: --
    Human Gene Mutation Database (HGMD): CYB5A

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for CYB5A

    Disorders / Diseases
    for CYB5A 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
    CYB5A for disorders           About GeneDecksing

    OMIM gene information: 613218   
    OMIM disorders: 250790  
    UniProtKB/Swiss-Prot: CYB5_HUMAN, P00167
  • Defects in CYB5A are the cause of methemoglobinemia CYB5A-related (METHB-CYB5A) [MIM:250790]. 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

    20/24 diseases for CYB5A (see all 24):    About MalaCards
    methemoglobinemia    methemoglobinemia, type iv    antley-bixler syndrome    ceroid lipofuscinosis
    neuronal ceroid-lipofuscinosis    cushing's syndrome    intellectual disability    intrahepatic cholangiocarcinoma
    adenoma    cholangiocarcinoma    vaccinia    liver cancer
    hepatocellular carcinoma    alzheimer's disease    breast cancer    obesity
    cerebritis    cholesterol    hypoxia    neuronitis

    3 diseases from the University of Copenhagen DISEASES database for CYB5A:
    Methemoglobinemia     Ariboflavinosis     Antley-Bixler syndrome

    6 Novoseek disease relationships for CYB5A gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    methemoglobinemia hereditary 75.8 1 10855391 (1)
    adenoma adrenocortical 45 6 9625451 (3), 8496319 (2), 8137519 (1)
    cushing syndrome 21.9 7 8496319 (3), 9625451 (3), 8137519 (1)
    tumors 3.37 4 8496319 (1), 9212475 (1), 16645950 (1)
    shock 0 2 17644064 (1), 19161326 (1)
    adenoma 0 10 8496319 (2), 9625451 (2), 8137519 (1)


    Export disorders for CYB5A gene to outside databases

    Publications
    for CYB5A 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

    PubMed articles for CYB5A gene, integrated from 9 sources (see all 358):
    (articles sorted by number of sources associating them with CYB5A)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    2. The isolation and characterization of the human cytochrome b5 gene. (PubMed id 7733981)1, 2 Li X.R.... Steggles A.W. (1995)
    3. The human liver and reticulocyte cytochrome b5 mRNAs are products from a single gene. (PubMed id 1712589)1, 2 Giordano S.J. and Steggles A.W. (1991)
    4. Chromosomal localization of a cytochrome b5 gene to human chromosome 18 and a cytochrome b5 pseudogene to the X chromosome. (PubMed id 1840560)1, 3 Shephard E.A....Phillips I.R. (1991)
    5. Structure of cytochrome b5 and its topology in the microsomal membrane. (PubMed id 2752049)1, 2 Ozols J. (1989)
    6. The complete nucleotide sequence of human liver cytochrome b5 mRNA. (PubMed id 3178851)1, 2 Yoo M. and Steggles A.W. (1988)
    7. Amino acid sequences of cytochrome b5 from human, porcine, and bovine erythrocytes and comparison with liver microsomal cytochrome b5. (PubMed id 4030743)1, 2 Abe K.... Sugita Y. (1985)
    8. Structural studies of cytochrome b5. 3. Sequential studies on human liver cytochrome b5. (PubMed id 4770377)1, 2 Rashid M.A.... Tsugita A. (1973)
    9. Cytochrome b5 from a normal human liver. Isolation and the partial amino acid sequence. (PubMed id 5062820)1, 2 Ozols J. (1972)
    10. Amino acid sequences of tryptic peptides of cytochromes b5 from microsomes of human, monkey, porcine, and chicken liver. (PubMed id 4993957)1, 2 Nobrega F.G. and Ozols J. (1971)

    External Searches for CYB5A gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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      Query String
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    Genome Databases showing CYB5A gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1528 HGNC: 2570 AceView: CYB5 Ensembl:ENSG00000166347 euGenes: HUgn1528
    ECgene: CYB5A H-InvDB: CYB5A

    Other Databases showing CYB5A gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing CYB5A gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CYB5A Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for CYB5A gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for CYB5A gene:
    Search GeneIP for patents involving CYB5A

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