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    ZSCAN2 zinc finger and SCAN domain containing 2 [ Homo sapiens (human) ]

    Gene ID: 54993, updated on 28-Oct-2024

    Summary

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    Official Symbol
    ZSCAN2provided by HGNC
    Official Full Name
    zinc finger and SCAN domain containing 2provided by HGNC
    Primary source
    HGNC:HGNC:20994
    See related
    Ensembl:ENSG00000176371 AllianceGenome:HGNC:20994
    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
    ZFP29; ZNF854
    Summary
    The protein encoded by this gene contains several copies of zinc finger motif, which is commonly found in transcriptional regulatory proteins. Studies in mice show that this gene is expressed during embryonic development, and specifically in the testis in adult mice, suggesting that it may play a role in regulating genes in germ cells. Alternative splicing of this gene results in several transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in fat (RPKM 2.7), testis (RPKM 2.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ZSCAN2 in Genome Data Viewer
    Location:
    15q25.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (84601009..84623716)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (82353436..82376136)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (85144240..85166947)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene golgin A6 family like 5, pseudogene Neighboring gene UBE2Q2 pseudogene 1 Neighboring gene long intergenic non-protein coding RNA 933 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6766 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6767 Neighboring gene uncharacterized LOC105370947 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9982 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6768 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:85146655-85147283 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:85152722-85153247 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9983 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6769 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6770 Neighboring gene SCAN domain containing 2 pseudogene Neighboring gene egl-9 family hypoxia inducible factor 1 pseudogene 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:85196867-85197834 Neighboring gene WD repeat domain 73

    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. A zinc finger protein-encoding gene expressed in the post-meiotic phase of spermatogenesis. Denny P, et al. Gene, 1991 Oct 15. PMID 1937051
    2. CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592. Nicolas E, et al. Eur J Hum Genet, 2010 Oct. PMID 20531441, Free PMC Article
    3. Biological insights from 108 schizophrenia-associated genetic loci. Schizophrenia Working Group of the Psychiatric Genomics Consortium. Nature, 2014 Jul 24. PMID 25056061, Free PMC Article
    4. The functional interactome landscape of the human histone deacetylase family. Joshi P, et al. Mol Syst Biol, 2013. PMID 23752268, Free PMC Article
    5. HSF1 phosphorylation establishes an active chromatin state via the TRRAP-TIP60 complex and promotes tumorigenesis. Fujimoto M, et al. Nat Commun, 2022 Jul 29. PMID 35906200, Free PMC Article

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. PMID:1937051 pertains to studies in mouse.
      Title: A zinc finger protein-encoding gene expressed in the post-meiotic phase of spermatogenesis.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog

    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

    • FLJ20595

    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 transcription 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 cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in spermatogenesis IEA
    Inferred from Electronic Annotation
    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 and SCAN domain-containing protein 2
    Names
    zfp-29
    zinc finger protein 29 homolog
    zinc finger protein 854

    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.

    Genomic

    1. NG_047160.1 RefSeqGene

      Range
      5024..27731
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001007072.2 → NP_001007073.1  zinc finger and SCAN domain-containing protein 2 isoform 3

      See identical proteins and their annotated locations for NP_001007073.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has a different 3' terminal exon compared to transcript variants 1 and 2, resulting in the shortest isoform (3) with a distinct C-terminus.
      Source sequence(s)
      AC048382, AW452266, AY279349, BC041620
      Consensus CDS
      CCDS32315.1
      UniProtKB/Swiss-Prot
      Q7Z7L9
      Related
      ENSP00000368663.3, ENST00000379358.7
      Conserved Domains (1) summary
      pfam02023
      Location:72 → 134
      SCAN; SCAN domain

    2. NM_017894.6 → NP_060364.4  zinc finger and SCAN domain-containing protein 2 isoform 2

      See identical proteins and their annotated locations for NP_060364.4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has a different 3' terminal exon compared to transcript variant 1, resulting in a shorter isoform (2) with a distinct C-terminus.
      Source sequence(s)
      AC048382, BC041620
      Consensus CDS
      CCDS32316.1
      Related
      ENSP00000333895.3, ENST00000334141.7
      Conserved Domains (1) summary
      pfam02023
      Location:72 → 134
      SCAN; SCAN domain

    3. NM_181877.4 → NP_870992.2  zinc finger and SCAN domain-containing protein 2 isoform 1

      See identical proteins and their annotated locations for NP_870992.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC048382, AK128624, AY262259, BC041620, BU733585, CK003500
      Consensus CDS
      CCDS10329.2
      UniProtKB/Swiss-Prot
      A6NG83, B2RMQ9, Q6ZQY9, Q7Z7L9, Q9NWU4
      Related
      ENSP00000445451.1, ENST00000546148.6
      Conserved Domains (3) summary
      COG5048
      Location:220 → 600
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:364 → 384
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam02023
      Location:72 → 134
      SCAN; SCAN 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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      84601009..84623716
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047432781.1 → XP_047288737.1  zinc finger and SCAN domain-containing protein 2 isoform X1

      UniProtKB/Swiss-Prot
      A6NG83, B2RMQ9, Q6ZQY9, Q7Z7L9, Q9NWU4

    2. XM_024449975.2 → XP_024305743.1  zinc finger and SCAN domain-containing protein 2 isoform X1

      UniProtKB/Swiss-Prot
      A6NG83, B2RMQ9, Q6ZQY9, Q7Z7L9, Q9NWU4
      Related
      ENSP00000410198.2, ENST00000448803.6
      Conserved Domains (3) summary
      COG5048
      Location:220 → 600
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:364 → 384
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam02023
      Location:72 → 134
      SCAN; SCAN domain

    3. XM_024449978.2 → XP_024305746.1  zinc finger and SCAN domain-containing protein 2 isoform X5

      Conserved Domains (3) summary
      COG5048
      Location:251 → 631
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:395 → 415
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cl02605
      Location:70 → 157
      SCAN; SCAN oligomerization domain

    4. XM_017022393.3 → XP_016877882.1  zinc finger and SCAN domain-containing protein 2 isoform X4

    5. XM_047432782.1 → XP_047288738.1  zinc finger and SCAN domain-containing protein 2 isoform X3

    6. XM_024449976.2 → XP_024305744.1  zinc finger and SCAN domain-containing protein 2 isoform X2

      UniProtKB/TrEMBL
      F8W6Y9
      Related
      ENSP00000351257.3, ENST00000358472.3
      Conserved Domains (2) summary
      COG5048
      Location:70 → 450
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:214 → 234
      ZF_C2H2; C2H2 Zn finger [structural motif]

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791797.1 Reference GRCh38.p14 PATCHES

      Range
      1092855..1115562
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054333157.1 → XP_054189132.1  zinc finger and SCAN domain-containing protein 2 isoform X5

    2. XM_054333156.1 → XP_054189131.1  zinc finger and SCAN domain-containing protein 2 isoform X4

    3. XM_054333155.1 → XP_054189130.1  zinc finger and SCAN domain-containing protein 2 isoform X3

    4. XM_054333154.1 → XP_054189129.1  zinc finger and SCAN domain-containing protein 2 isoform X2

      UniProtKB/TrEMBL
      F8W6Y9

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      82353436..82376136
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054378350.1 → XP_054234325.1  zinc finger and SCAN domain-containing protein 2 isoform X5

    2. XM_054378349.1 → XP_054234324.1  zinc finger and SCAN domain-containing protein 2 isoform X4

    3. XM_054378348.1 → XP_054234323.1  zinc finger and SCAN domain-containing protein 2 isoform X3

    4. XM_054378347.1 → XP_054234322.1  zinc finger and SCAN domain-containing protein 2 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7Z7L9.2 GenPept UniProtKB/Swiss-Prot:Q7Z7L9

    Gene LinkOut

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