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MYNN myoneurin [ Homo sapiens (human) ]

Gene ID: 55892, updated on 3-Apr-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (169773396..169789716)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (172557621..172573941)
105.20220307 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
  • 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. 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
  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. 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
  4. Neuromuscular expression of the BTB/POZ and zinc finger protein myoneurin. Cifuentes-Diaz C, et al. Muscle Nerve, 2004 Jan. PMID 14694499
  5. Identification of seven loci affecting mean telomere length and their association with disease. Codd V, et al. Nat Genet, 2013 Apr. PMID 23535734, Free PMC Article

See all (32) 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_2023_10

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

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