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    ZSCAN30 zinc finger and SCAN domain containing 30 [ Homo sapiens (human) ]

    Gene ID: 100101467, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ZSCAN30provided by HGNC
    Official Full Name
    zinc finger and SCAN domain containing 30provided by HGNC
    Primary source
    HGNC:HGNC:33517
    See related
    Ensembl:ENSG00000186814 AllianceGenome:HGNC:33517
    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
    ZNF917; ZNF-WYM; ZNF397OS
    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 located in nucleus. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 6.9), brain (RPKM 6.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ZSCAN30 in Genome Data Viewer
    Location:
    18q12.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (35251062..35290229, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (35442347..35481602, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (32831026..32870193, complement)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904282 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9394 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:32558231-32559430 Neighboring gene microtubule associated protein RP/EB family member 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13218 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:32630340-32630840 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13219 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:32718769-32719764 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:32731753-32732253 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13220 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:32785437-32786050 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:32786051-32786663 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:32820735-32821260 Neighboring gene zinc finger protein 397 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13222 Neighboring gene zinc finger protein 271, pseudogene Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:32904859-32905554 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13223 Neighboring gene uncharacterized LOC124904283 Neighboring gene zinc finger protein 24

    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 and characterization of two novel human SCAN domain-containing zinc finger genes ZNF396 and ZNF397. Wu Y, et al. Gene, 2003 May 22. PMID 12801647
    2. Expressed sequence tag analysis of adult human lens for the NEIBank Project: over 2000 non-redundant transcripts, novel genes and splice variants. Wistow G, et al. Mol Vis, 2002 Jun 15. PMID 12107413
    3. An interactome perturbation framework prioritizes damaging missense mutations for developmental disorders. Chen S, et al. Nat Genet, 2018 Jul. PMID 29892012, Free PMC Article
    4. H4K20me0 recognition by BRCA1-BARD1 directs homologous recombination to sister chromatids. Nakamura K, et al. Nat Cell Biol, 2019 Mar. PMID 30804502, Free PMC Article
    5. Toward a confocal subcellular atlas of the human proteome. Barbe L, et al. Mol Cell Proteomics, 2008 Mar. PMID 18029348

    See all (13) citations in PubMed

    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ16245, FLJ46864

    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 regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    zinc finger and SCAN domain-containing protein 30
    Names
    ZNF397 opposite strand
    zinc finger protein 397 opposite strand
    zinc finger protein 397OS

    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_001112734.4 → NP_001106205.1  zinc finger and SCAN domain-containing protein 30 isoform 1

      See identical proteins and their annotated locations for NP_001106205.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AA988135, AK001503, AL832180, AY234408, DC414102
      Consensus CDS
      CCDS42427.1
      UniProtKB/Swiss-Prot
      B4E0N0, Q6ZNB3, Q86W11, Q96PN3
      Related
      ENSP00000329738.4, ENST00000333206.10
      Conserved Domains (4) summary
      COG5048
      Location:328 → 479
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:331 → 351
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:469 → 491
      zf-C2H2; Zinc finger, C2H2 type
      cl02605
      Location:44 → 154
      SCAN; SCAN oligomerization domain

    2. NM_001166012.3 → NP_001159484.1  zinc finger and SCAN domain-containing protein 30 isoform 1

      See identical proteins and their annotated locations for NP_001159484.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AA988135, AK001503, AK303447, AL832180, AY234408, CD676185
      Consensus CDS
      CCDS42427.1
      UniProtKB/Swiss-Prot
      B4E0N0, Q6ZNB3, Q86W11, Q96PN3
      Related
      ENSP00000392371.2, ENST00000420878.7
      Conserved Domains (4) summary
      COG5048
      Location:328 → 479
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:331 → 351
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:469 → 491
      zf-C2H2; Zinc finger, C2H2 type
      cl02605
      Location:44 → 154
      SCAN; SCAN oligomerization domain

    3. NM_001288711.2 → NP_001275640.1  zinc finger and SCAN domain-containing protein 30 isoform 2

      See identical proteins and their annotated locations for NP_001275640.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon, compared to variant 1. It encodes isoform 2, which is shorter at the N-terminus, compared to isoform 1.
      Source sequence(s)
      AA988135, AK001503, AL832180, AY234408, DA653861, DC414102
      Consensus CDS
      CCDS74207.1
      UniProtKB/TrEMBL
      A0A0C4DGV0
      Related
      ENSP00000480152.1, ENST00000610712.1
      Conserved Domains (4) summary
      COG5048
      Location:141 → 292
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:144 → 164
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:114 → 136
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:184 → 209
      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_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      35251062..35290229 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005258183.5 → XP_005258240.1  zinc finger and SCAN domain-containing protein 30 isoform X2

      See identical proteins and their annotated locations for XP_005258240.1

      UniProtKB/Swiss-Prot
      B4E0N0, Q6ZNB3, Q86W11, Q96PN3
      Conserved Domains (4) summary
      COG5048
      Location:328 → 479
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:331 → 351
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:469 → 491
      zf-C2H2; Zinc finger, C2H2 type
      cl02605
      Location:44 → 154
      SCAN; SCAN oligomerization domain

    2. XM_047437267.1 → XP_047293223.1  zinc finger and SCAN domain-containing protein 30 isoform X2

      UniProtKB/Swiss-Prot
      B4E0N0, Q6ZNB3, Q86W11, Q96PN3

    3. XM_047437266.1 → XP_047293222.1  zinc finger and SCAN domain-containing protein 30 isoform X1

    4. XM_011525789.4 → XP_011524091.1  zinc finger and SCAN domain-containing protein 30 isoform X4

      See identical proteins and their annotated locations for XP_011524091.1

      UniProtKB/TrEMBL
      A0A0C4DGV0
      Conserved Domains (4) summary
      COG5048
      Location:141 → 292
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:144 → 164
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:114 → 136
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:184 → 209
      zf-H2C2_2; Zinc-finger double domain

    5. XM_047437268.1 → XP_047293224.1  zinc finger and SCAN domain-containing protein 30 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      35442347..35481602 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054318140.1 → XP_054174115.1  zinc finger and SCAN domain-containing protein 30 isoform X2

    2. XM_054318139.1 → XP_054174114.1  zinc finger and SCAN domain-containing protein 30 isoform X1

    3. XM_054318142.1 → XP_054174117.1  zinc finger and SCAN domain-containing protein 30 isoform X4

    4. XM_054318141.1 → XP_054174116.1  zinc finger and SCAN domain-containing protein 30 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86W11.1 GenPept UniProtKB/Swiss-Prot:Q86W11

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