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    MYNN myoneurin [ Homo sapiens (human) ]

    Gene ID: 55892, updated on 28-Oct-2024

    Summary

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    Official Symbol
    MYNNprovided by HGNC
    Official Full Name
    myoneurinprovided by HGNC
    Primary source
    HGNC:HGNC:14955
    See related
    Ensembl:ENSG00000085274 MIM:606042; AllianceGenome:HGNC:14955
    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
    OSZF; SBBIZ1; ZBTB31; ZNF902
    Summary
    This gene encodes a member of the BTB/POZ and zinc finger domain-containing protein family that are involved in the control of gene expression. Alternative splicing results in multiple transcript variants and a pseudogene has been identified on chromosome 14. [provided by RefSeq, Jun 2010]
    Expression
    Ubiquitous expression in bone marrow (RPKM 4.7), testis (RPKM 4.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MYNN in Genome Data Viewer
    Location:
    3q26.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (169773396..169789716)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (172557621..172573941)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (169491184..169507504)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 3:169486144 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20783 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 3:169487501 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20784 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:169490847-169491350 Neighboring gene tRNA-Val (anticodon AAC) 1-1 Neighboring gene actin related protein T3 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 3:169512145 Neighboring gene leucine rich repeat containing 34 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 3:169524016 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 3:169526272 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14876 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20786 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20787 Neighboring gene leucine rich repeats and IQ motif containing 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20788 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:169564950-169565107 Neighboring gene leucine rich repeat containing 31

    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 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. Comprehensive characterization of coding and non-coding single nucleotide polymorphisms of the Myoneurin (MYNN) gene using molecular dynamics simulation and docking approaches. Mou SI, et al. PLoS One, 2024. PMID 38165846, Free PMC Article
    2. Amplification of MDS1/EVI1 and EVI1, located in the 3q26.2 amplicon, is associated with favorable patient prognosis in ovarian cancer. Nanjundan M, et al. Cancer Res, 2007 Apr 1. PMID 17409414
    3. Identification of candidate growth promoting genes in ovarian cancer through integrated copy number and expression analysis. Ramakrishna M, et al. PLoS One, 2010 Apr 8. PMID 20386695, Free PMC Article
    4. Neuromuscular expression of the BTB/POZ and zinc finger protein myoneurin. Cifuentes-Diaz C, et al. Muscle Nerve, 2004 Jan. PMID 14694499
    5. The Association of MYNN and TERC Gene Polymorphisms and Bladder Cancer in a Turkish Population. Polat F, et al. Urol J, 2019 Feb 21. PMID 30120764

    See all (35) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Comprehensive characterization of coding and non-coding single nucleotide polymorphisms of the Myoneurin (MYNN) gene using molecular dynamics simulation and docking approaches.
      Title: Comprehensive characterization of coding and non-coding single nucleotide polymorphisms of the Myoneurin (MYNN) gene using molecular dynamics simulation and docking approaches.
    2. there may exist an association between a combination of MYNN rs10936599 and TERC rs2293607 polymorphisms and development of bladder cancer in Turkish population.
      Title: The Association of MYNN and TERC Gene Polymorphisms and Bladder Cancer in a Turkish Population.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic susceptibility to distinct bladder cancer subphenotypes.
    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
    A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.
    EBI GWAS Catalog
    Common variation at 3q26.2, 6p21.33, 17p11.2 and 22q13.1 influences multiple myeloma risk.
    EBI GWAS Catalog
    Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
    EBI GWAS Catalog
    Genome-wide association study identifies multiple loci associated with bladder cancer risk.
    EBI GWAS Catalog
    Genome-wide meta-analysis points to CTC1 and ZNF676 as genes regulating telomere homeostasis in humans.
    EBI GWAS Catalog
    Identification of seven loci affecting mean telomere length and their association with disease.
    EBI GWAS Catalog
    Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33.
    EBI GWAS Catalog
    Multiple common variants for celiac disease influencing immune gene expression.
    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cellular response to leukemia inhibitory factor IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    myoneurin
    Names
    zinc finger and BTB domain-containing protein 31
    zinc finger protein with BTB/POZ domain

    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_001185118.2 → NP_001172047.1  myoneurin isoform A

      See identical proteins and their annotated locations for NP_001172047.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) includes an additional exon in the 5' UTR, compared to variant 1. Both variants 1 and 2 encode the same protein (isoform A).
      Source sequence(s)
      AC078795, AF148848, BX648128, DB134736
      Consensus CDS
      CCDS3207.1
      UniProtKB/Swiss-Prot
      B2R6C9, Q6QHA6, Q6QHA7, Q6R3G1, Q6R3G2, Q6R4A0, Q7Z716, Q7Z717, Q86Z11, Q86Z12, Q9NPC7, Q9NS01, Q9UIW8
      Related
      ENSP00000349150.3, ENST00000356716.8
      Conserved Domains (5) summary
      COG5189
      Location:354 → 438
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
      sd00017
      Location:304 → 324
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:304 → 324
      zf-C2H2; Zinc finger, C2H2 type
      pfam00651
      Location:14 → 115
      BTB; BTB/POZ domain
      pfam13465
      Location:316 → 341
      zf-H2C2_2; Zinc-finger double domain

    2. NM_001185119.1 → NP_001172048.1  myoneurin isoform B

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and lacks an in-frame exon in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform B), compared to isoform A.
      Source sequence(s)
      AB079778, AC078795, DB134736
      Consensus CDS
      CCDS54671.1
      Related
      ENSP00000440637.1, ENST00000544106.5
      Conserved Domains (6) summary
      COG5048
      Location:385 → 535
      COG5048; FOG: Zn-finger [General function prediction only]
      COG5189
      Location:354 → 438
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
      sd00017
      Location:304 → 324
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:304 → 324
      zf-C2H2; Zinc finger, C2H2 type
      pfam00651
      Location:14 → 115
      BTB; BTB/POZ domain
      pfam13465
      Location:316 → 341
      zf-H2C2_2; Zinc-finger double domain

    3. NM_018657.5 → NP_061127.1  myoneurin isoform A

      See identical proteins and their annotated locations for NP_061127.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (A). Both variants 1 and 2 encode the same protein (isoform A).
      Source sequence(s)
      AC078795, BX648128, DB134736
      Consensus CDS
      CCDS3207.1
      UniProtKB/Swiss-Prot
      B2R6C9, Q6QHA6, Q6QHA7, Q6R3G1, Q6R3G2, Q6R4A0, Q7Z716, Q7Z717, Q86Z11, Q86Z12, Q9NPC7, Q9NS01, Q9UIW8
      Related
      ENSP00000326240.4, ENST00000349841.10
      Conserved Domains (5) summary
      COG5189
      Location:354 → 438
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
      sd00017
      Location:304 → 324
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:304 → 324
      zf-C2H2; Zinc finger, C2H2 type
      pfam00651
      Location:14 → 115
      BTB; BTB/POZ domain
      pfam13465
      Location:316 → 341
      zf-H2C2_2; Zinc-finger double domain

    RNA

    1. NR_033702.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate splice site in an internal coding exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC078795, AK304281, BX648128, DB134736

    2. NR_033703.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses an alternate splice site in an internal coding exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC078795, AC078802, AF155508, BX648128, DB134736

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      169773396..169789716
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      172557621..172573941
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NPC7.1 GenPept UniProtKB/Swiss-Prot:Q9NPC7

    Gene LinkOut

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

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