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    ZNF229 zinc finger protein 229 [ Homo sapiens (human) ]

    Gene ID: 7772, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ZNF229provided by HGNC
    Official Full Name
    zinc finger protein 229provided by HGNC
    Primary source
    HGNC:HGNC:13022
    See related
    Ensembl:ENSG00000278318 MIM:620827; AllianceGenome:HGNC:13022
    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 activator 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, Nov 2024]
    Expression
    Ubiquitous expression in ovary (RPKM 2.9), thyroid (RPKM 2.7) and 24 other tissues See more
    Orthologs
    all
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    Genomic context

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    See ZNF229 in Genome Data Viewer
    Location:
    19q13.31
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (44426254..44448578, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (47249029..47271368, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (44930426..44952766, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene zinc finger protein 112 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:44860641-44861141 Neighboring gene zinc finger protein 285 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:44905171-44905927 Neighboring gene MPRA-validated peak3499 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr19:44937098-44937334 Neighboring gene zinc finger protein 285B, pseudogene Neighboring gene MPRA-validated peak3500 silencer Neighboring gene zinc finger protein 180 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:45003842-45004342 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:45004343-45004843

    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. Genome-wide association analyses identifies a susceptibility locus for tuberculosis on chromosome 18q11.2. Thye T, et al. Nat Genet, 2010 Sep. PMID 20694014, Free PMC Article
    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. Acetylation-Mimic Mutation of TRIM28-Lys304 to Gln Attenuates the Interaction with KRAB-Zinc-Finger Proteins and Affects Gene Expression in Leukemic K562 Cells. Chang YJ, et al. Int J Mol Sci, 2023 Jun 6. PMID 37372979, Free PMC Article
    4. The DNA sequence and biology of human chromosome 19. Grimwood J, et al. Nature, 2004 Apr 1. PMID 15057824
    5. Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. Xiao T, et al. Proc Natl Acad Sci U S A, 2018 Jul 31. PMID 29987050, Free PMC Article

    See all (12) 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

    EBI GWAS Catalog

    Description
    Genome-wide association analyses identifies a susceptibility locus for tuberculosis on chromosome 18q11.2.
    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

    • FLJ34222

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription activator 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 positive regulation of transcription by RNA polymerase II 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
    		  
    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 protein 229

    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_001278510.3 → NP_001265439.2  zinc finger protein 229 isoform 2

      See identical proteins and their annotated locations for NP_001265439.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and uses an alternate in-frame splice junction at the 3' end of an exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC245748, BM663713, CR936724
      Consensus CDS
      CCDS62706.1
      UniProtKB/TrEMBL
      A0A087WVZ7
      Related
      ENSP00000479807.1, ENST00000613197.4
      Conserved Domains (3) summary
      COG5048
      Location:369 → 781
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:373 → 393
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:33 → 74
      KRAB; KRAB box

    2. NM_014518.4 → NP_055333.3  zinc finger protein 229 isoform 1

      See identical proteins and their annotated locations for NP_055333.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC245748, AF192979, BM663713
      Consensus CDS
      CCDS42574.1
      UniProtKB/Swiss-Prot
      B2RWN3, Q59FV2, Q86WL9, Q9UJW7
      Related
      ENSP00000479884.1, ENST00000614049.5
      Conserved Domains (5) summary
      smart00349
      Location:34 → 74
      KRAB; krueppel associated box
      COG5048
      Location:375 → 787
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:379 → 399
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:34 → 73
      KRAB; KRAB box
      pfam13465
      Location:391 → 416
      zf-H2C2_2; Zinc-finger double domain

    RNA

    1. NR_103551.3 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate splice junction at the 3' end of an exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AB209357, AC245748, BM663713
      Related
      ENST00000620012.4

    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
      44426254..44448578 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011527292.3 → XP_011525594.1  zinc finger protein 229 isoform X2

      See identical proteins and their annotated locations for XP_011525594.1

      UniProtKB/TrEMBL
      A0A087WVZ7
      Conserved Domains (3) summary
      COG5048
      Location:369 → 781
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:373 → 393
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:33 → 74
      KRAB; KRAB box

    2. XM_047439385.1 → XP_047295341.1  zinc finger protein 229 isoform X1

      UniProtKB/Swiss-Prot
      B2RWN3, Q59FV2, Q86WL9, Q9UJW7

    3. XM_006723372.5 → XP_006723435.1  zinc finger protein 229 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      47249029..47271368 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054322051.1 → XP_054178026.1  zinc finger protein 229 isoform X2

      UniProtKB/TrEMBL
      A0A087WVZ7

    2. XM_054322050.1 → XP_054178025.1  zinc finger protein 229 isoform X1

      UniProtKB/Swiss-Prot
      B2RWN3, Q59FV2, Q86WL9, Q9UJW7

    3. XM_054322052.1 → XP_054178027.1  zinc finger protein 229 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UJW7.4 GenPept UniProtKB/Swiss-Prot:Q9UJW7

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