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    ZNF346 zinc finger protein 346 [ Homo sapiens (human) ]

    Gene ID: 23567, updated on 28-Oct-2024

    Summary

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    Official Symbol
    ZNF346provided by HGNC
    Official Full Name
    zinc finger protein 346provided by HGNC
    Primary source
    HGNC:HGNC:16403
    See related
    Ensembl:ENSG00000113761 MIM:605308; AllianceGenome:HGNC:16403
    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
    JAZ; Zfp346
    Summary
    The protein encoded by this gene is a nucleolar, zinc finger protein that preferentially binds to double-stranded (ds) RNA or RNA/DNA hybrids, rather than DNA alone. Mutational studies indicate that the zinc finger domains are not only essential for dsRNA binding, but are also required for its nucleolar localization. The encoded protein may be involved in cell growth and survival. It plays a role in protecting neurons by inhibiting cell cycle re-entry via stimulation of p21 gene expression. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015]
    Expression
    Ubiquitous expression in ovary (RPKM 2.4), thyroid (RPKM 2.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ZNF346 in Genome Data Viewer
    Location:
    5q35.2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (177022696..177081189)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (177565869..177624397)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (176449697..176508190)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene unc-5 netrin receptor A Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:176314417-176314917 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:176327167-176327668 Neighboring gene hexokinase 3 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:176370315-176371173 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:176371174-176372031 Neighboring gene ubiquitin interaction motif containing 1 Neighboring gene uncharacterized LOC124901145 Neighboring gene MPRA-validated peak5592 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16666 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16667 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16668 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:176449401-176449938 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:176449939-176450475 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16670 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:176488686-176489885 Neighboring gene FGFR4 5' regulatory region Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:176537235-176537734 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23693 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:176558105-176558658 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr5:176559765-176560316 and GRCh37_chr5:176560317-176560870 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:176560871-176561422 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:176561423-176561976 Neighboring gene fibroblast growth factor receptor 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16676 Neighboring gene nuclear receptor binding SET domain protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:176692158-176693050 Neighboring gene ribosomal protein L21 pseudogene 60

    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. Multicenter study identified molecular blood-born protein signatures for Wilms Tumor. Schmitt J, et al. Int J Cancer, 2012 Aug 1. PMID 21913182
    2. Structural characterization of interactions between the double-stranded RNA-binding zinc finger protein JAZ and nucleic acids. Burge RG, et al. Biochemistry, 2014 Mar 11. PMID 24521053, Free PMC Article
    3. ZNF385A and ZNF346 Serve as Prognostic Biomarkers Associated with an Inflamed Immunosuppressive Tumor Microenvironment in Hepatocellular Carcinoma. Peng Q, et al. Int J Mol Sci, 2023 Feb 5. PMID 36834567, Free PMC Article
    4. Human IgG antibody profiles differentiate between symptomatic patients with and without colorectal cancer. Kijanka G, et al. Gut, 2010 Jan. PMID 19828471
    5. JAZ mediates G1 cell cycle arrest by interacting with and inhibiting E2F1. Yang M, et al. Cell Cycle, 2011 Jul 15. PMID 21715977, Free PMC Article

    See all (63) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ZNF385A and ZNF346 Serve as Prognostic Biomarkers Associated with an Inflamed Immunosuppressive Tumor Microenvironment in Hepatocellular Carcinoma.
      Title: ZNF385A and ZNF346 Serve as Prognostic Biomarkers Associated with an Inflamed Immunosuppressive Tumor Microenvironment in Hepatocellular Carcinoma.
    2. This detection method can be readily extended to multiplex detection of miRNAs with only one ALP-conjugated JAZ probe due to its nonsequence-specific binding character
      Title: Ultrasensitive Electrochemical Detection of miRNA-21 Using a Zinc Finger Protein Specific to DNA-RNA Hybrids.
    3. JAZ directly binds E2F1 in vitro in a dsRNA-independent manner, and JAZ's dsRNA binding ZF domains, which are necessary for localizing JAZ to the nucleus, are required for repression of transcriptional activity in vivo.
      Title: JAZ mediates G1 cell cycle arrest by interacting with and inhibiting E2F1.
    4. JAZ is exported by exportin-5 but translocates back into nuclei by a facilitated diffusion mechanism
      Title: Nucleocytoplasmic shuttling of JAZ, a new cargo protein for exportin-5.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    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

    Clone Names

    • DKFZp547M223

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables double-stranded RNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables double-stranded RNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables enzyme binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables miRNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    zinc finger protein 346
    Names
    double-stranded RNA-binding zinc finger protein JAZ
    just another zinc finger protein

    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_001308213.2 → NP_001295142.1  zinc finger protein 346 isoform b

      See identical proteins and their annotated locations for NP_001295142.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an additional in-frame exon in the 5' coding region, and contains an alternate 3' terminal exon and thus differs in the 3' UTR, compared to variant 1. The encoded isoform (b) is longer than isoform a.
      Source sequence(s)
      AK131469, AK297584, CR627467, DA789054, DB340780
      Consensus CDS
      CCDS78094.1
      UniProtKB/Swiss-Prot
      Q9UL40
      UniProtKB/TrEMBL
      B7Z4N4
      Related
      ENSP00000424495.1, ENST00000503039.1
      Conserved Domains (2) summary
      smart00451
      Location:207 → 241
      ZnF_U1; U1-like zinc finger
      sd00020
      Location:161 → 183
      ZF_C2H2; C2H2 Zn finger [structural motif]

    2. NM_001308214.2 → NP_001295143.1  zinc finger protein 346 isoform c

      See identical proteins and their annotated locations for NP_001295143.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon and uses an alternate in-frame splice site in the central coding region, compared to variant 1, resulting in an isoform (c) that is shorter than isoform a.
      Source sequence(s)
      AC027317, AK295549, DA789054, DB548047
      Consensus CDS
      CCDS83052.1
      UniProtKB/Swiss-Prot
      Q9UL40
      Related
      ENSP00000421212.1, ENST00000503425.5
      Conserved Domains (2) summary
      smart00451
      Location:150 → 184
      ZnF_U1; U1-like zinc finger
      sd00020
      Location:104 → 126
      ZF_C2H2; C2H2 Zn finger [structural motif]

    3. NM_001308215.2 → NP_001295144.1  zinc finger protein 346 isoform d

      See identical proteins and their annotated locations for NP_001295144.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an alternate in-frame exon in the central coding region, compared to variant 1, resulting in an isoform (d) that is shorter than isoform a.
      Source sequence(s)
      AC027317, BU860103, DA789054, DB548047
      Conserved Domains (2) summary
      smart00451
      Location:135 → 164
      ZnF_U1; U1-like zinc finger
      sd00020
      Location:136 → 158
      ZF_C2H2; C2H2 Zn finger [structural motif]

    4. NM_001308216.2 → NP_001295145.1  zinc finger protein 346 isoform e

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks three alternate exons that result in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (e) has a distinct C-terminus and is shorter than isoform a.
      Source sequence(s)
      AC027317, DA169130, DA789054, DB548047
      Conserved Domains (1) summary
      smart00451
      Location:71 → 104
      ZnF_U1; U1-like zinc finger

    5. NM_001308218.2 → NP_001295147.1  zinc finger protein 346 isoform f

      See identical proteins and their annotated locations for NP_001295147.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks three alternate exons and uses an alternate splice site, resulting in the loss of an in-frame segment in the 5' and central coding regions, compared to variant 1. The encoded isoform (f) is shorter than isoform a.
      Source sequence(s)
      AC027317, AK297448, DB548047
      Consensus CDS
      CCDS83053.1
      UniProtKB/TrEMBL
      B7Z4J8
      Related
      ENSP00000423515.1, ENST00000506693.5
      Conserved Domains (3) summary
      smart00451
      Location:84 → 118
      ZnF_U1; U1-like zinc finger
      sd00020
      Location:89 → 111
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam12874
      Location:143 → 165
      zf-met; Zinc-finger of C2H2 type

    6. NM_001308219.2 → NP_001295148.1  zinc finger protein 346 isoform g

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) lacks three alternate exons and contains an alternate 3' terminal exon, resulting in a frameshift in the 3' coding region and an alternate 3' UTR, compared to variant 1. The encoded isoform (g) has a distinct C-terminus and is shorter than isoform a.
      Source sequence(s)
      AK131469, AK297584, BX331331, CR627467, DA789054, DB340780
      UniProtKB/Swiss-Prot
      Q9UL40
      UniProtKB/TrEMBL
      B7Z4N4
      Conserved Domains (1) summary
      smart00451
      Location:71 → 104
      ZnF_U1; U1-like zinc finger

    7. NM_001308221.2 → NP_001295150.1  zinc finger protein 346 isoform h

      See identical proteins and their annotated locations for NP_001295150.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) lacks four alternate exons that result in the loss of an in-frame segment in the 5' and central coding regions, compared to variant 1. The encoded isoform (h) is shorter than isoform a. Both variants 8 and 9 encode isoform h.
      Source sequence(s)
      AC027317, DA789054, DB548047, DR003225
      Consensus CDS
      CCDS83054.1
      UniProtKB/TrEMBL
      B7Z4N4
      Conserved Domains (2) summary
      sd00020
      Location:65 → 87
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam12874
      Location:65 → 87
      zf-met; Zinc-finger of C2H2 type

    8. NM_001308223.2 → NP_001295152.1  zinc finger protein 346 isoform h

      See identical proteins and their annotated locations for NP_001295152.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) lacks four alternate exons that result in the loss of an in-frame segment in the 5' and central coding regions, and it also contains an alternate 3' terminal exon and thus differs in the 3' UTR, compared to variant 1. The encoded isoform (h) is shorter than isoform a. Both variants 8 and 9 encode isoform h.
      Source sequence(s)
      AK131469, AK297584, CR627467, DB340780
      Consensus CDS
      CCDS83054.1
      UniProtKB/TrEMBL
      B7Z4N4
      Related
      ENSP00000421089.1, ENST00000512315.5
      Conserved Domains (2) summary
      sd00020
      Location:65 → 87
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam12874
      Location:65 → 87
      zf-met; Zinc-finger of C2H2 type

    9. NM_001363713.2 → NP_001350642.1  zinc finger protein 346 isoform i

      Status: REVIEWED

      Description
      Transcript Variant: This variant (12) uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (i) has the same N- and C-termini and is longer compared to isoform a.
      Source sequence(s)
      AC027314, AC027317
      Consensus CDS
      CCDS87353.1
      UniProtKB/TrEMBL
      D6RJ07
      Conserved Domains (2) summary
      smart00451
      Location:198 → 232
      ZnF_U1; U1-like zinc finger
      sd00020
      Location:203 → 225
      ZF_C2H2; C2H2 Zn finger [structural motif]

    10. NM_012279.4 → NP_036411.1  zinc finger protein 346 isoform a

      See identical proteins and their annotated locations for NP_036411.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes isoform a.
      Source sequence(s)
      AC027317, AF083340, AL359576, DA789054, DB548047
      Consensus CDS
      CCDS4409.1
      UniProtKB/Swiss-Prot
      B7Z367, Q68CV9, Q6ZMW1, Q9UL40
      Related
      ENSP00000350869.3, ENST00000358149.8
      Conserved Domains (2) summary
      smart00451
      Location:182 → 216
      ZnF_U1; U1-like zinc finger
      sd00020
      Location:136 → 158
      ZF_C2H2; C2H2 Zn finger [structural motif]

    RNA

    1. NR_131773.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10) lacks an alternate exon in the central region, 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)
      AC027317, AK300065, DA789054, DB548047

    2. NR_131774.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11) lacks two alternate exons in the central region, 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)
      AC027317, AK300738, DA789054, DB548047

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      177022696..177081189
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011534494.2 → XP_011532796.1  zinc finger protein 346 isoform X2

      Conserved Domains (2) summary
      smart00451
      Location:223 → 257
      ZnF_U1; U1-like zinc finger
      sd00020
      Location:161 → 183
      ZF_C2H2; C2H2 Zn finger [structural motif]

    2. XM_047417054.1 → XP_047273010.1  zinc finger protein 346 isoform X10

    3. XM_047417055.1 → XP_047273011.1  zinc finger protein 346 isoform X12

    4. XM_047417057.1 → XP_047273013.1  zinc finger protein 346 isoform X14

    5. XM_047417051.1 → XP_047273007.1  zinc finger protein 346 isoform X1

    6. XM_011534496.3 → XP_011532798.1  zinc finger protein 346 isoform X5

      Conserved Domains (2) summary
      smart00451
      Location:207 → 241
      ZnF_U1; U1-like zinc finger
      sd00020
      Location:161 → 183
      ZF_C2H2; C2H2 Zn finger [structural motif]

    7. XM_005265864.4 → XP_005265921.1  zinc finger protein 346 isoform X11

      Conserved Domains (2) summary
      smart00451
      Location:160 → 189
      ZnF_U1; U1-like zinc finger
      sd00020
      Location:161 → 183
      ZF_C2H2; C2H2 Zn finger [structural motif]

    8. XM_047417052.1 → XP_047273008.1  zinc finger protein 346 isoform X4

      UniProtKB/TrEMBL
      D6RJ07
      Related
      ENSP00000425725.1, ENST00000511834.5

    9. XM_017009297.3 → XP_016864786.1  zinc finger protein 346 isoform X6

    10. XM_017009299.3 → XP_016864788.1  zinc finger protein 346 isoform X8

    11. XM_011534495.4 → XP_011532797.1  zinc finger protein 346 isoform X3

      Conserved Domains (2) summary
      smart00451
      Location:223 → 257
      ZnF_U1; U1-like zinc finger
      sd00020
      Location:161 → 183
      ZF_C2H2; C2H2 Zn finger [structural motif]

    12. XM_047417053.1 → XP_047273009.1  zinc finger protein 346 isoform X9

    13. XM_017009298.2 → XP_016864787.1  zinc finger protein 346 isoform X7

    14. XM_047417056.1 → XP_047273012.1  zinc finger protein 346 isoform X13

    15. XM_017009303.2 → XP_016864792.1  zinc finger protein 346 isoform X15

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      177565869..177624397
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054352257.1 → XP_054208232.1  zinc finger protein 346 isoform X2

    2. XM_054352265.1 → XP_054208240.1  zinc finger protein 346 isoform X10

    3. XM_054352267.1 → XP_054208242.1  zinc finger protein 346 isoform X12

    4. XM_054352269.1 → XP_054208244.1  zinc finger protein 346 isoform X14

    5. XM_054352256.1 → XP_054208231.1  zinc finger protein 346 isoform X1

    6. XM_054352260.1 → XP_054208235.1  zinc finger protein 346 isoform X5

    7. XM_054352266.1 → XP_054208241.1  zinc finger protein 346 isoform X11

    8. XM_054352259.1 → XP_054208234.1  zinc finger protein 346 isoform X4

      UniProtKB/TrEMBL
      D6RJ07

    9. XM_054352261.1 → XP_054208236.1  zinc finger protein 346 isoform X6

    10. XM_054352263.1 → XP_054208238.1  zinc finger protein 346 isoform X8

    11. XM_054352258.1 → XP_054208233.1  zinc finger protein 346 isoform X3

    12. XM_054352264.1 → XP_054208239.1  zinc finger protein 346 isoform X9

    13. XM_054352262.1 → XP_054208237.1  zinc finger protein 346 isoform X7

    14. XM_054352268.1 → XP_054208243.1  zinc finger protein 346 isoform X13

    15. XM_054352270.1 → XP_054208245.1  zinc finger protein 346 isoform X15

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UL40.1 GenPept UniProtKB/Swiss-Prot:Q9UL40

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