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    ZSCAN22 zinc finger and SCAN domain containing 22 [ Homo sapiens (human) ]

    Gene ID: 342945, updated on 9-Dec-2024

    Summary

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    Official Symbol
    ZSCAN22provided by HGNC
    Official Full Name
    zinc finger and SCAN domain containing 22provided by HGNC
    Primary source
    HGNC:HGNC:4929
    See related
    Ensembl:ENSG00000182318 MIM:165260; AllianceGenome:HGNC:4929
    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
    HKR2; ZNF50
    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
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See ZSCAN22 in Genome Data Viewer
    Location:
    19q13.43
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (58326994..58342332)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (61423408..61438747)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (58838360..58853698)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ZNF8-ERVK3-1 readthrough (NMD candidate) Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:58816949-58817449 Neighboring gene Sharpr-MPRA regulatory region 7439 Neighboring gene endogenous retrovirus group K3 member 1 Neighboring gene uncharacterized LOC105372480 Neighboring gene zinc finger protein 470 pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:58838245-58838987 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:58849877-58850378 Neighboring gene microRNA 6806 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:58858160-58858660 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:58858661-58859161 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15186 Neighboring gene alpha-1-B glycoprotein Neighboring gene A1BG antisense RNA 1 Neighboring gene zinc finger protein 446 pseudogene Neighboring gene zinc finger protein 497

    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. Assignment of the human GLI2 gene to 2q14 by fluorescence in situ hybridization. Matsumoto N, et al. Genomics, 1996 Aug 15. PMID 8812445
    2. 2058 expressed sequence tags (ESTs) from a human fetal lung cDNA library. Sudo K, et al. Genomics, 1994 Nov 15. PMID 7698749
    3. The GLI-Kruppel family of human genes. Ruppert JM, et al. Mol Cell Biol, 1988 Aug. PMID 2850480, Free PMC Article
    4. Clustering of C2-H2 zinc finger motif sequences within telomeric and fragile site regions of human chromosomes. Lichter P, et al. Genomics, 1992 Aug. PMID 1505991
    5. Characterization and mapping of human genes encoding zinc finger proteins. Bray P, et al. Proc Natl Acad Sci U S A, 1991 Nov 1. PMID 1946370, Free PMC Article

    See all (20) 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

    • MGC126679, MGC138482

    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 22
    Names
    GLI-Kruppel family member HKR2
    krueppel-related zinc finger protein 2
    zinc finger protein 50

    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_001321116.2 → NP_001308045.1  zinc finger and SCAN domain-containing protein 22 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC010642, AC012313, AK128716
      Consensus CDS
      CCDS12975.1
      UniProtKB/Swiss-Prot
      P10073, Q15922, Q7Z3L8
      Conserved Domains (3) summary
      COG5048
      Location:174 → 482
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:326 → 346
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam02023
      Location:45 → 129
      SCAN; SCAN domain

    2. NM_001321117.2 → NP_001308046.1  zinc finger and SCAN domain-containing protein 22 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC010642, AC012313, AK128716, BC143446, DA335630
      UniProtKB/Swiss-Prot
      P10073
      Conserved Domains (2) summary
      smart00431
      Location:45 → 153
      SCAN; leucine rich region
      pfam02023
      Location:45 → 130
      SCAN; SCAN domain

    3. NM_181846.3 → NP_862829.1  zinc finger and SCAN domain-containing protein 22 isoform 1

      See identical proteins and their annotated locations for NP_862829.1

      Status: VALIDATED

      Source sequence(s)
      AC010642, AC012313, BC112277
      Consensus CDS
      CCDS12975.1
      UniProtKB/Swiss-Prot
      P10073, Q15922, Q7Z3L8
      Related
      ENSP00000332433.3, ENST00000329665.5
      Conserved Domains (3) summary
      COG5048
      Location:174 → 482
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:326 → 346
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam02023
      Location:45 → 129
      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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      58326994..58342332
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011526917.3 → XP_011525219.1  zinc finger and SCAN domain-containing protein 22 isoform X1

      See identical proteins and their annotated locations for XP_011525219.1

      UniProtKB/Swiss-Prot
      P10073, Q15922, Q7Z3L8
      Related
      ENSP00000520871.1, ENST00000850584.1
      Conserved Domains (3) summary
      COG5048
      Location:174 → 482
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:326 → 346
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam02023
      Location:45 → 129
      SCAN; SCAN domain

    2. XM_006723192.4 → XP_006723255.1  zinc finger and SCAN domain-containing protein 22 isoform X1

      See identical proteins and their annotated locations for XP_006723255.1

      UniProtKB/Swiss-Prot
      P10073, Q15922, Q7Z3L8
      Conserved Domains (3) summary
      COG5048
      Location:174 → 482
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:326 → 346
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam02023
      Location:45 → 129
      SCAN; SCAN domain

    3. XM_017026746.2 → XP_016882235.1  zinc finger and SCAN domain-containing protein 22 isoform X2

      Conserved Domains (2) summary
      smart00431
      Location:45 → 153
      SCAN; leucine rich region
      pfam02023
      Location:45 → 130
      SCAN; SCAN domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      61423408..61438747
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054320852.1 → XP_054176827.1  zinc finger and SCAN domain-containing protein 22 isoform X2

    2. XM_054320850.1 → XP_054176825.1  zinc finger and SCAN domain-containing protein 22 isoform X1

      UniProtKB/Swiss-Prot
      P10073, Q15922, Q7Z3L8

    3. XM_054320851.1 → XP_054176826.1  zinc finger and SCAN domain-containing protein 22 isoform X1

      UniProtKB/Swiss-Prot
      P10073, Q15922, Q7Z3L8
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P10073.2 GenPept UniProtKB/Swiss-Prot:P10073

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