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    ZNF222 zinc finger protein 222 [ Homo sapiens (human) ]

    Gene ID: 7673, updated on 2-May-2024

    Summary

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    Official Symbol
    ZNF222provided by HGNC
    Official Full Name
    zinc finger protein 222provided by HGNC
    Primary source
    HGNC:HGNC:13015
    See related
    Ensembl:ENSG00000159885 MIM:617357; AllianceGenome:HGNC:13015
    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
    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, Apr 2022]
    Expression
    Ubiquitous expression in testis (RPKM 3.6), urinary bladder (RPKM 1.6) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    Location:
    19q13.31
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (44025379..44033110)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (46848287..46856014)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (44529531..44537263)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14748 Neighboring gene zinc finger protein 230 Neighboring gene ZNF222 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14749 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14750 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:44555855-44556356 Neighboring gene zinc finger protein 223 Neighboring gene zinc finger protein 284 Neighboring gene RNA, U6 small nuclear 902, pseudogene

    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. The identification and characterization of KRAB-domain-containing zinc finger proteins. Constantinou-Deltas CD, et al. Genomics, 1992 Mar. PMID 1559709
    2. Differential expansion of zinc-finger transcription factor loci in homologous human and mouse gene clusters. Shannon M, et al. Genome Res, 2003 Jun. PMID 12743021, Free PMC Article
    3. The DNA sequence and biology of human chromosome 19. Grimwood J, et al. Nature, 2004 Apr 1. PMID 15057824
    4. Toward a confocal subcellular atlas of the human proteome. Barbe L, et al. Mol Cell Proteomics, 2008 Mar. PMID 18029348
    5. 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

    See all (8) 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

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables DNA-binding transcription factor activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in regulation of DNA-templated transcription IEA
    Inferred from Electronic Annotation
    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 protein 222

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001129996.2 → NP_001123468.1  zinc finger protein 222 isoform 1

      See identical proteins and their annotated locations for NP_001123468.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and it encodes the longer protein (isoform 1).
      Source sequence(s)
      BC030261, DB185422
      Consensus CDS
      CCDS46098.1
      UniProtKB/Swiss-Prot
      Q9UK12
      Related
      ENSP00000375822.2, ENST00000391960.4
      Conserved Domains (5) summary
      smart00349
      Location:17 → 76
      KRAB; krueppel associated box
      COG5048
      Location:183 → 315
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:187 → 207
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:17 → 56
      KRAB; KRAB box
      pfam13465
      Location:284 → 306
      zf-H2C2_2; Zinc-finger double domain

    2. NM_013360.3 → NP_037492.2  zinc finger protein 222 isoform 2

      See identical proteins and their annotated locations for NP_037492.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform 2 which is 40 aa shorter than isoform 1.
      Source sequence(s)
      AF187988, BC030261
      Consensus CDS
      CCDS33045.1
      UniProtKB/Swiss-Prot
      G5E9B9, Q8N6G7, Q9P1U5, Q9UK12
      Related
      ENSP00000187879.6, ENST00000187879.12
      Conserved Domains (4) summary
      smart00349
      Location:8 → 53
      KRAB; krueppel associated box
      sd00017
      Location:147 → 167
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:8 → 47
      KRAB; KRAB box
      pfam13465
      Location:244 → 266
      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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      44025379..44033110
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005259208.4 → XP_005259265.1  zinc finger protein 222 isoform X1

      Conserved Domains (4) summary
      smart00349
      Location:8 → 67
      KRAB; krueppel associated box
      sd00017
      Location:178 → 198
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:8 → 47
      KRAB; KRAB box
      pfam13465
      Location:275 → 297
      zf-H2C2_2; Zinc-finger double domain

    2. XM_017027237.2 → XP_016882726.1  zinc finger protein 222 isoform X3

    3. XM_005259209.4 → XP_005259266.1  zinc finger protein 222 isoform X2

      Conserved Domains (4) summary
      smart00349
      Location:17 → 62
      KRAB; krueppel associated box
      sd00017
      Location:156 → 176
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:17 → 56
      KRAB; KRAB box
      pfam13465
      Location:253 → 275
      zf-H2C2_2; Zinc-finger double domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      46848287..46856014
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054321998.1 → XP_054177973.1  zinc finger protein 222 isoform X1

    2. XM_054322000.1 → XP_054177975.1  zinc finger protein 222 isoform X3

    3. XM_054321999.1 → XP_054177974.1  zinc finger protein 222 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UK12.2 GenPept UniProtKB/Swiss-Prot:Q9UK12

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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