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    ZNF347 zinc finger protein 347 [ Homo sapiens (human) ]

    Gene ID: 84671, updated on 27-Nov-2024

    Summary

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    Official Symbol
    ZNF347provided by HGNC
    Official Full Name
    zinc finger protein 347provided by HGNC
    Primary source
    HGNC:HGNC:16447
    See related
    Ensembl:ENSG00000197937 AllianceGenome:HGNC:16447
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ZNF1111
    Summary
    Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in spleen (RPKM 2.5), thyroid (RPKM 2.3) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See ZNF347 in Genome Data Viewer
    Location:
    19q13.42
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (53134935..53159053, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (56217226..56241320, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (53638188..53662306, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene zinc finger protein 160 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11003 Neighboring gene zinc finger protein 415 Neighboring gene MPRA-validated peak3548 silencer Neighboring gene MPRA-validated peak3549 silencer Neighboring gene Sharpr-MPRA regulatory region 171 Neighboring gene zinc finger protein 665 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:53685451-53685967 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15063 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11005 Neighboring gene zinc finger protein 480-like

    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. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
    3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article
    4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    GeneRIFs: Gene References Into Functions

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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
    		  
    Process Evidence Code Pubs
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    zinc finger protein 347
    Names
    CTD-2620I22.7
    zinc finger 1111
    zinc finger protein 1111

    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_001172674.2 → NP_001166145.1  zinc finger protein 347 isoform a

      See identical proteins and their annotated locations for NP_001166145.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Both variants 1 and 2 encode the same isoform (a), which is longer than isoform b.
      Source sequence(s)
      AA978292, AC010328, AK096623
      Consensus CDS
      CCDS54314.1
      Related
      ENSP00000405218.2, ENST00000452676.6
      Conserved Domains (6) summary
      smart00349
      Location:8 → 67
      KRAB; krueppel associated box
      COG5048
      Location:273 → 728
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:460 → 480
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:458 → 480
      zf-C2H2; Zinc finger, C2H2 type
      pfam01352
      Location:8 → 47
      KRAB; KRAB box
      pfam13465
      Location:333 → 357
      zf-H2C2_2; Zinc-finger double domain

    2. NM_001172675.2 → NP_001166146.1  zinc finger protein 347 isoform a

      See identical proteins and their annotated locations for NP_001166146.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Both variants 1 and 2 encode the same isoform (a), which is longer than isoform b.
      Source sequence(s)
      AA776564, AA978292, AC010328, AI366675, AK289994, AY029765, DB316074
      Consensus CDS
      CCDS54314.1
      Related
      ENSP00000471712.2, ENST00000601469.2
      Conserved Domains (6) summary
      smart00349
      Location:8 → 67
      KRAB; krueppel associated box
      COG5048
      Location:273 → 728
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:460 → 480
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:458 → 480
      zf-C2H2; Zinc finger, C2H2 type
      pfam01352
      Location:8 → 47
      KRAB; KRAB box
      pfam13465
      Location:333 → 357
      zf-H2C2_2; Zinc-finger double domain

    3. NM_032584.3 → NP_115973.2  zinc finger protein 347 isoform b

      See identical proteins and their annotated locations for NP_115973.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and uses an alternate in-frame splice site in the coding region, compared to variant 1. The resulting isoform (b) lacks one internal amino acid, compared to isoform a.
      Source sequence(s)
      AA776564, AA978292, AC010328, AI366675, AY029765, DB214217, DB316074
      Consensus CDS
      CCDS33097.1
      UniProtKB/Swiss-Prot
      B3KU77, B9EG59, G5E9N4, Q8TCN1, Q96SE7
      Related
      ENSP00000334146.6, ENST00000334197.12
      Conserved Domains (6) summary
      smart00349
      Location:8 → 66
      KRAB; krueppel associated box
      COG5048
      Location:272 → 727
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:459 → 479
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:457 → 479
      zf-C2H2; Zinc finger, C2H2 type
      pfam01352
      Location:8 → 47
      KRAB; KRAB box
      pfam13465
      Location:332 → 356
      zf-H2C2_2; Zinc-finger double domain

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      53134935..53159053 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      56217226..56241320 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96SE7.2 GenPept UniProtKB/Swiss-Prot:Q96SE7

    Gene LinkOut

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

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