Format

Send to:

Choose Destination
    • Showing Current items.

    MYB MYB proto-oncogene, transcription factor [ Homo sapiens (human) ]

    Gene ID: 4602, updated on 15-Jun-2019

    Summary

    Official Symbol
    MYBprovided by HGNC
    Official Full Name
    MYB proto-oncogene, transcription factorprovided by HGNC
    Primary source
    HGNC:HGNC:7545
    See related
    Ensembl:ENSG00000118513 MIM:189990
    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
    efg; Cmyb; c-myb; c-myb_CDS
    Summary
    This gene encodes a protein with three HTH DNA-binding domains that functions as a transcription regulator. This protein plays an essential role in the regulation of hematopoiesis. This gene may be aberrently expressed or rearranged or undergo translocation in leukemias and lymphomas, and is considered to be an oncogene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
    Expression
    Biased expression in bone marrow (RPKM 21.6), colon (RPKM 12.6) and 7 other tissues See more
    Orthologs

    Genomic context

    See MYB in Genome Data Viewer
    Location:
    6q23.3
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 6 NC_000006.12 (135181315..135219173)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (135502453..135540311)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene HBS1 like translational GTPase Neighboring gene microRNA 3662 Neighboring gene uncharacterized LOC105378010 Neighboring gene uncharacterized LOC105378011 Neighboring gene microRNA 548a-2 Neighboring gene VISTA enhancer hs1351

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.
    NHGRI GWA Catalog
    A genome-wide association identified the common genetic variants influence disease severity in beta0-thalassemia/hemoglobin E.
    NHGRI GWA Catalog
    A genome-wide association study of red blood cell traits using the electronic medical record.
    NHGRI GWA Catalog
    A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.
    NHGRI GWA Catalog
    A meta-analysis and genome-wide association study of platelet count and mean platelet volume in african americans.
    NHGRI GWA Catalog
    Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
    NHGRI GWA Catalog
    Genome wide association analysis of a founder population identified TAF3 as a gene for MCHC in humans.
    NHGRI GWA Catalog
    Genome wide association study of fetal hemoglobin in sickle cell anemia in Tanzania.
    NHGRI GWA Catalog
    Genome-wide association study of hematological and biochemical traits in a Japanese population.
    NHGRI GWA Catalog
    GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.
    NHGRI GWA Catalog
    HbA2 levels in normal adults are influenced by two distinct genetic mechanisms.
    NHGRI GWA Catalog
    Identification of nine novel loci associated with white blood cell subtypes in a Japanese population.
    NHGRI GWA Catalog
    Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.
    NHGRI GWA Catalog
    Multiple nonglycemic genomic loci are newly associated with blood level of glycated hemoglobin in East Asians.
    NHGRI GWA Catalog
    New gene functions in megakaryopoiesis and platelet formation.
    NHGRI GWA Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    NHGRI GWA Catalog
    Sequence variants in three loci influence monocyte counts and erythrocyte volume.
    NHGRI GWA Catalog
    Variation at 3p24.1 and 6q23.3 influences the risk of Hodgkin's lymphoma.
    NHGRI GWA Catalog

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    cellular response to hydrogen peroxide IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to retinoic acid IEA
    Inferred from Electronic Annotation
    more info
     
    chromatin remodeling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    mitotic cell cycle IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    negative regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of transcription, DNA-templated IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of T-helper cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of collagen biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of glial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of hepatic stellate cell activation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of hepatic stellate cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of histone H3-K4 methylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of histone H3-K9 methylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of smooth muscle cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of testosterone secretion IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of transcription, DNA-templated IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    positive regulation of transcription, DNA-templated IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of transcription, DNA-templated NAS
    Non-traceable Author Statement
    more info
    PubMed 
    positive regulation of transforming growth factor beta production IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of hematopoietic stem cell differentiation TAS
    Traceable Author Statement
    more info
     
    regulation of transcription, DNA-templated NAS
    Non-traceable Author Statement
    more info
    PubMed 
    response to hypoxia IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    nuclear matrix NAS
    Non-traceable Author Statement
    more info
    PubMed 
    nucleoplasm TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    transcriptional activator Myb
    Names
    oncogene AMV
    proto-oncogene c-Myb
    v-myb avian myeloblastosis viral oncogene homolog

    NCBI Reference Sequences (RefSeq)

    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.

    Genomic

    1. NG_012330.1 RefSeqGene

      Range
      5001..42859
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001130172.2NP_001123644.1  transcriptional activator Myb isoform 3

      See identical proteins and their annotated locations for NP_001123644.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3, also known as 8) uses an alternate in-frame splice site and lacks an in-frame exon compared to variant 1. The resulting isoform (3) is shorter than isoform 1.
      Source sequence(s)
      AJ606320, AL023693, D25774
      Consensus CDS
      CCDS47482.1
      UniProtKB/Swiss-Prot
      P10242
      Related
      ENSP00000410825.2, ENST00000442647.7
      Conserved Domains (4) summary
      smart00717
      Location:92140
      SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
      pfam00249
      Location:92138
      Myb_DNA-binding; Myb-like DNA-binding domain
      pfam07988
      Location:269313
      LMSTEN; LMSTEN motif
      pfam09316
      Location:398559
      Cmyb_C; C-myb, C-terminal
    2. NM_001130173.2NP_001123645.1  transcriptional activator Myb isoform 1

      See identical proteins and their annotated locations for NP_001123645.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1, also known as 9Aii) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AJ606319, AL023693, D25774
      Consensus CDS
      CCDS47481.1
      UniProtKB/Swiss-Prot
      P10242
      Related
      ENSP00000339992.5, ENST00000341911.10
      Conserved Domains (4) summary
      smart00717
      Location:92140
      SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
      pfam00249
      Location:92138
      Myb_DNA-binding; Myb-like DNA-binding domain
      pfam07988
      Location:269313
      LMSTEN; LMSTEN motif
      pfam09316
      Location:518683
      Cmyb_C; C-myb, C-terminal
    3. NM_001161656.2NP_001155128.1  transcriptional activator Myb isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4, also known as E8SE9B) uses an alternate in-frame splice site compared to variant 1. The resulting isoform (4) is shorter than isoform 1.
      Source sequence(s)
      AL023693
      Consensus CDS
      CCDS55058.1
      UniProtKB/Swiss-Prot
      P10242
      Related
      ENSP00000434723.1, ENST00000528774.5
      Conserved Domains (4) summary
      smart00717
      Location:92140
      SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
      pfam00249
      Location:92138
      Myb_DNA-binding; Myb-like DNA-binding domain
      pfam07988
      Location:269313
      LMSTEN; LMSTEN motif
      pfam09316
      Location:515680
      Cmyb_C; C-myb, C-terminal
    4. NM_001161657.2NP_001155129.1  transcriptional activator Myb isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5, also known as DelE9) lacks two alternate in-frame exons compared to variant 1. The resulting isoform (5) is shorter than isoform 1.
      Source sequence(s)
      AL023693
      Consensus CDS
      CCDS55061.1
      UniProtKB/Swiss-Prot
      P10242
      Related
      ENSP00000435938.1, ENST00000525369.5
      Conserved Domains (4) summary
      smart00717
      Location:92140
      SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
      pfam00249
      Location:92138
      Myb_DNA-binding; Myb-like DNA-binding domain
      pfam07988
      Location:269313
      LMSTEN; LMSTEN motif
      pfam09316
      Location:317477
      Cmyb_C; C-myb, C-terminal
    5. NM_001161658.2NP_001155130.1  transcriptional activator Myb isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6, also known as E9S-48E9B) uses an alternate in-frame splice site compared to variant 1. The resulting isoform (6) is shorter than isoform 1.
      Source sequence(s)
      AL023693
      Consensus CDS
      CCDS55059.1
      UniProtKB/Swiss-Prot
      P10242
      Related
      ENSP00000432851.1, ENST00000534121.5
      Conserved Domains (4) summary
      smart00717
      Location:92140
      SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
      pfam00249
      Location:92138
      Myb_DNA-binding; Myb-like DNA-binding domain
      pfam07988
      Location:269313
      LMSTEN; LMSTEN motif
      pfam09316
      Location:502667
      Cmyb_C; C-myb, C-terminal
    6. NM_001161659.2NP_001155131.1  transcriptional activator Myb isoform 7

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7, also known as DelE13) lacks two alternate in-frame exons compared to variant 1. The resulting isoform (7) is shorter than isoform 1.
      Source sequence(s)
      AL023693
      Consensus CDS
      CCDS55060.1
      UniProtKB/Swiss-Prot
      P10242
      Related
      ENSP00000435055.1, ENST00000534044.5
      Conserved Domains (4) summary
      smart00717
      Location:92140
      SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
      pfam00249
      Location:92138
      Myb_DNA-binding; Myb-like DNA-binding domain
      pfam07988
      Location:269313
      LMSTEN; LMSTEN motif
      pfam09316
      Location:401530
      Cmyb_C; C-myb, C-terminal
    7. NM_001161660.2NP_001155132.1  transcriptional activator Myb isoform 8

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8, also known as DelE8) lacks two alternate in-frame exons compared to variant 1. The resulting isoform (8) is shorter than isoform 1.
      Source sequence(s)
      AL023693
      Consensus CDS
      CCDS55062.1
      UniProtKB/Swiss-Prot
      P10242
      Related
      ENSP00000436605.1, ENST00000533624.5
      Conserved Domains (3) summary
      smart00717
      Location:92140
      SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains
      pfam00249
      Location:92138
      Myb_DNA-binding; Myb-like DNA-binding domain
      pfam09316
      Location:366527
      Cmyb_C; C-myb, C-terminal
    8. NM_005375.4NP_005366.2  transcriptional activator Myb isoform 2

      See identical proteins and their annotated locations for NP_005366.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2, also known as M15024) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AL023693, BC064955, D25774, X52125
      Consensus CDS
      CCDS5174.1
      UniProtKB/Swiss-Prot
      P10242
      UniProtKB/TrEMBL
      Q708E9
      Related
      ENSP00000356788.4, ENST00000367814.8
      Conserved Domains (4) summary
      pfam00249
      Location:4086
      Myb_DNA-binding; Myb-like DNA-binding domain
      pfam07988
      Location:269313
      LMSTEN; LMSTEN motif
      pfam09316
      Location:401563
      Cmyb_C; C-myb, C-terminal
      cl28544
      Location:89202
      SANT; SANT SWI3, ADA2, N-CoR and TFIIIB'' DNA-binding domains

    RNA

    1. NR_134958.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9, also known as E8A) contains an alternate exon and lacks an exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AJ606317, D25774
      Related
      ENST00000525477.5
    2. NR_134959.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10, also known as E8SE8A) uses an alternate splice site, lacks an exon, and contains an alternate exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AJ606321, D25774
      Related
      ENST00000463282.6
    3. NR_134960.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11, also known as E10A) lacks an exon and contains an alternate exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AJ606322, D25774
      Related
      ENST00000339290.9
    4. NR_134961.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (12, also known as E9A or 9Ai) lacks an exon and contains an alternate exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AJ606318, D25774
      Related
      ENST00000533837.5
    5. NR_134962.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (13, also known as DelE5E8A) lacks two exons and contains an alternate exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AJ606317, AJ606318, AY787446, D25774, X52125
    6. NR_134963.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (14, also known as E12L-1) lacks an exon and uses an alternate splice site compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AJ606317, AY787451, D25774, X52125
      Related
      ENST00000616088.4
    7. NR_134964.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (15, also known as E8SE10A) uses an alternate splice site, lacks an exon, and contains an alternate exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AJ606317, AY787458, D25774
      Related
      ENST00000526889.5
    8. NR_134965.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (16, also known as E8AE10A) lacks an exon and contains two alternate exons compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AJ606317, AY787456, D25774
      Related
      ENST00000525514.5

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

      Range
      135181308..135219173
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_942444.2 RNA Sequence

    Support Center