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    CYB5R2 cytochrome b5 reductase 2 [ Homo sapiens (human) ]

    Gene ID: 51700, updated on 3-Apr-2024

    Summary

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    Official Symbol
    CYB5R2provided by HGNC
    Official Full Name
    cytochrome b5 reductase 2provided by HGNC
    Primary source
    HGNC:HGNC:24376
    See related
    Ensembl:ENSG00000166394 MIM:608342; AllianceGenome:HGNC:24376
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    B5R.2
    Summary
    The protein encoded by this gene belongs to the flavoprotein pyridine nucleotide cytochrome reductase family of proteins. Cytochrome b-type NAD(P)H oxidoreductases are implicated in many processes including cholesterol biosynthesis, fatty acid desaturation and elongation, and respiratory burst in neutrophils and macrophages. Cytochrome b5 reductases have soluble and membrane-bound forms that are the product of alternative splicing. In animal cells, the membrane-bound form binds to the endoplasmic reticulum, where it is a member of a fatty acid desaturation complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
    Expression
    Biased expression in testis (RPKM 34.1), skin (RPKM 7.5) and 8 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    11p15.4
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (7665095..7674267, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (7723469..7735468, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (7686326..7695498, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene olfactomedin like 1 Neighboring gene leucine-rich repeat extensin-like protein 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4365 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3110 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4366 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4367 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4368 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4369 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4370 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4371 Neighboring gene MPRA-validated peak1190 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4372 Neighboring gene PPFIA binding protein 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4373 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:7584372-7584873 Neighboring gene uncharacterized LOC105376535 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:7595102-7595926 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:7595927-7596750 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:7599169-7599403 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4374 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:7651972-7653171 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4375 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:7672104-7673303 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4376 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4377 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3111 Neighboring gene uncharacterized LOC105376533 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:7712245-7713444 Neighboring gene ovochymase 2 Neighboring gene uncharacterized LOC124902626

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Intratumoral Heterogeneity for Inactivating Frameshift Mutation of CYB5R2 Gene in Colorectal Cancers. Jo YS, et al. Pathol Oncol Res, 2020 Jan. PMID 29532410
    2. Genetic, epigenetic, and molecular landscapes of multifocal and multicentric glioblastoma. Liu Q, et al. Acta Neuropathol, 2015 Oct. PMID 26323991, Free PMC Article
    3. Cytochrome b5 reductase 2 is a novel candidate tumor suppressor gene frequently inactivated by promoter hypermethylation in human nasopharyngeal carcinoma. Xiao X, et al. Tumour Biol, 2014 Apr. PMID 24338690, Free PMC Article
    4. Identification of cytochrome-b5 reductase as the enzyme responsible for NADH-dependent lucigenin chemiluminescence in human spermatozoa. Baker MA, et al. Biol Reprod, 2005 Aug. PMID 15858218
    5. NADH-Cytochrome B5 reductase 2 suppresses retinal vascular dysfunction through regulation of vascular endothelial growth factor A in diabetic retinopathy. Chen J, et al. Exp Eye Res, 2022 Sep. PMID 35820466

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. NADH-Cytochrome B5 reductase 2 suppresses retinal vascular dysfunction through regulation of vascular endothelial growth factor A in diabetic retinopathy.
      Title: NADH-Cytochrome B5 reductase 2 suppresses retinal vascular dysfunction through regulation of vascular endothelial growth factor A in diabetic retinopathy.
    2. Long non-coding RNA MEG3 inhibits neovascularization in diabetic retinopathy by regulating microRNA miR-6720-5p and cytochrome B5 reductase 2.
      Title: Long non-coding RNA MEG3 inhibits neovascularization in diabetic retinopathy by regulating microRNA miR-6720-5p and cytochrome B5 reductase 2.
    3. Intratumoral Heterogeneity for Inactivating Frameshift Mutation of CYB5R2 Gene in Colorectal Cancers.
      Title: Intratumoral Heterogeneity for Inactivating Frameshift Mutation of CYB5R2 Gene in Colorectal Cancers.
    4. Study showed that multifocal or multicentric glioblastomas have some underlying genetic and epigenetic characteristics that are associated with poor prognosis and that CYB5R2 is a new epigenetic marker for glioblastoma prognosis
      Title: Genetic, epigenetic, and molecular landscapes of multifocal and multicentric glioblastoma.
    5. findings suggest that CYB5R2 may be a functional tumor suppressor gene, frequently inactivated by hypermethylation of its promoter in nasopharyngeal carcinoma
      Title: Cytochrome b5 reductase 2 is a novel candidate tumor suppressor gene frequently inactivated by promoter hypermethylation in human nasopharyngeal carcinoma.
    6. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    7. CYB5R2 is a key enzyme involved in the mediation of NADH-induced redox activity in human spermatozoa.
      Title: Identification of cytochrome-b5 reductase as the enzyme responsible for NADH-dependent lucigenin chemiluminescence in human spermatozoa.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association analysis of blood-pressure traits in African-ancestry individuals reveals common associated genes in African and non-African populations.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ12494

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables FAD binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables cytochrome-b5 reductase activity, acting on NAD(P)H IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables cytochrome-b5 reductase activity, acting on NAD(P)H TAS
    Traceable Author Statement
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in bicarbonate transport TAS
    Traceable Author Statement
    more info
    		  
    involved_in sterol biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus HDA PubMed 

    General protein information

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    Preferred Names
    NADH-cytochrome b5 reductase 2
    Names
    cytochrome b5 reductase b5R.2
    NP_001289755.1
    NP_001289756.1
    NP_057313.2
    XP_006718314.1
    XP_011518486.2
    XP_011518487.2
    XP_024304348.1
    XP_047283080.1
    XP_047283081.1
    XP_054225097.1
    XP_054225098.1
    XP_054225099.1
    XP_054225100.1
    XP_054225101.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001302826.2 → NP_001289755.1  NADH-cytochrome b5 reductase 2 isoform 1

      See identical proteins and their annotated locations for NP_001289755.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC104237, AK290102, BF061336, BM693762, DB460012
      Consensus CDS
      CCDS7780.1
      UniProtKB/Swiss-Prot
      Q6BCY4, Q9BVA3, Q9UF68, Q9UHJ0
      UniProtKB/TrEMBL
      A8K237
      Related
      ENSP00000437041.1, ENST00000533558.5
      Conserved Domains (1) summary
      cl26810
      Location:8 → 276
      PLN02252; nitrate reductase [NADPH]

    2. NM_001302827.1 → NP_001289756.1  NADH-cytochrome b5 reductase 2 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in its 5' UTR and uses an alternate splice site in the 3' coding region, which results in a frameshift compared to variant 1. It encodes isoform 2, which has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC104237, BF061336, BG495762, BQ431043, HY211860
      Conserved Domains (1) summary
      cd06183
      Location:20 → 188
      cyt_b5_reduct_like; Cytochrome b5 reductase catalyzes the reduction of 2 molecules of cytochrome b5 using NADH as an electron donor. Like ferredoxin reductases, these proteins have an N-terminal FAD binding subdomain and a C-terminal NADH binding subdomain, separated by a ...

    3. NM_016229.5 → NP_057313.2  NADH-cytochrome b5 reductase 2 isoform 1

      See identical proteins and their annotated locations for NP_057313.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein (isoform 1).
      Source sequence(s)
      AC104237, AY665398, CB149369
      Consensus CDS
      CCDS7780.1
      UniProtKB/Swiss-Prot
      Q6BCY4, Q9BVA3, Q9UF68, Q9UHJ0
      UniProtKB/TrEMBL
      A8K237
      Related
      ENSP00000299498.6, ENST00000299498.11
      Conserved Domains (1) summary
      cl26810
      Location:8 → 276
      PLN02252; nitrate reductase [NADPH]

    RNA

    1. NR_126508.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate first exon and contains an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC104237, AK290102, BC001346, BF061336
      Related
      ENST00000524790.5

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      7665095..7674267 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047427125.1 → XP_047283081.1  NADH-cytochrome b5 reductase 2 isoform X3

      Related
      ENSP00000434969.1, ENST00000531096.5

    2. XM_011520184.3 → XP_011518486.2  NADH-cytochrome b5 reductase 2 isoform X1

      UniProtKB/Swiss-Prot
      Q6BCY4, Q9BVA3, Q9UF68, Q9UHJ0

    3. XM_006718251.4 → XP_006718314.1  NADH-cytochrome b5 reductase 2 isoform X1

      See identical proteins and their annotated locations for XP_006718314.1

      UniProtKB/Swiss-Prot
      Q6BCY4, Q9BVA3, Q9UF68, Q9UHJ0
      UniProtKB/TrEMBL
      A8K237
      Conserved Domains (1) summary
      cl26810
      Location:8 → 276
      PLN02252; nitrate reductase [NADPH]

    4. XM_024448580.2 → XP_024304348.1  NADH-cytochrome b5 reductase 2 isoform X1

      UniProtKB/Swiss-Prot
      Q6BCY4, Q9BVA3, Q9UF68, Q9UHJ0
      UniProtKB/TrEMBL
      A8K237
      Conserved Domains (1) summary
      cl26810
      Location:8 → 276
      PLN02252; nitrate reductase [NADPH]

    5. XM_047427124.1 → XP_047283080.1  NADH-cytochrome b5 reductase 2 isoform X1

      UniProtKB/Swiss-Prot
      Q6BCY4, Q9BVA3, Q9UF68, Q9UHJ0

    6. XM_011520185.4 → XP_011518487.2  NADH-cytochrome b5 reductase 2 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      7723469..7735468 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054369122.1 → XP_054225097.1  NADH-cytochrome b5 reductase 2 isoform X4

    2. XM_054369126.1 → XP_054225101.1  NADH-cytochrome b5 reductase 2 isoform X7

    3. XM_054369125.1 → XP_054225100.1  NADH-cytochrome b5 reductase 2 isoform X1

    4. XM_054369123.1 → XP_054225098.1  NADH-cytochrome b5 reductase 2 isoform X5

    5. XM_054369124.1 → XP_054225099.1  NADH-cytochrome b5 reductase 2 isoform X6

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001001336.1: Suppressed sequence

      Description
      NM_001001336.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6BCY4.1 GenPept UniProtKB/Swiss-Prot:Q6BCY4

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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