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

Gene ID: 100101467, updated on 8-Mar-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, Apr 2022]
Expression
Ubiquitous expression in thyroid (RPKM 6.9), brain (RPKM 6.2) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
18q12.2
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (35251062..35290229, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (35442347..35481602, complement)
105.20220307 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)

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

  • 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_2023_10

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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