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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

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