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    ZNF620 zinc finger protein 620 [ Homo sapiens (human) ]

    Gene ID: 253639, updated on 11-Apr-2024

    Summary

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    Official Symbol
    ZNF620provided by HGNC
    Official Full Name
    zinc finger protein 620provided by HGNC
    Primary source
    HGNC:HGNC:28742
    See related
    Ensembl:ENSG00000177842 AllianceGenome:HGNC:28742
    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 repressor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Predicted to be involved in negative regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    all
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    Genomic context

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    Location:
    3p22.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (40506039..40518736)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (40517919..40533780)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (40547530..40560227)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19718 Neighboring gene zinc finger protein 619 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:40534545-40535044 Neighboring gene RNA, U5B small nuclear 2, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19719 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:40566421-40567233 Neighboring gene zinc finger protein 621 Neighboring gene uncharacterized LOC124909368

    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. Genomic annotation of 15,809 ESTs identified from pooled early gestation human eyes. Choy KW, et al. Physiol Genomics, 2006 Mar 13. PMID 16368877
    2. Human POGZ modulates dissociation of HP1alpha from mitotic chromosome arms through Aurora B activation. Nozawa RS, et al. Nat Cell Biol, 2010 Jul. PMID 20562864
    3. Cullin 3 Exon 9 Deletion in Familial Hyperkalemic Hypertension Impairs Cullin3-Ring-E3 Ligase (CRL3) Dynamic Regulation and Cycling. Kouranti I, et al. Int J Mol Sci, 2022 May 5. PMID 35563538, Free PMC Article
    4. OpenCell: Endogenous tagging for the cartography of human cellular organization. Cho NH, et al. Science, 2022 Mar 11. PMID 35271311, Free PMC Article
    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 (11) 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

    • MGC50836

    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
    		  
    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
    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 620

    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_001256167.2 → NP_001243096.1  zinc finger protein 620 isoform b

      See identical proteins and their annotated locations for NP_001243096.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks two alternate exons in the 5' coding region and uses a downstream start codon, compared to variant 1. The encoded isoform (b) is shorter at the N-terminus, compared to isoform a. Both variants 2 and 3 encode isoform b.
      Source sequence(s)
      AC121754, AK093599, BC044953, BY800121, DA172830
      Consensus CDS
      CCDS58825.1
      UniProtKB/Swiss-Prot
      Q6ZNG0
      Related
      ENSP00000391472.1, ENST00000418905.1
      Conserved Domains (3) summary
      COG5048
      Location:108 → 252
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:196 → 216
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:236 → 261
      zf-H2C2_2; Zinc-finger double domain

    2. NM_001256168.2 → NP_001243097.1  zinc finger protein 620 isoform b

      See identical proteins and their annotated locations for NP_001243097.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks two alternate exons in the 5' coding region and uses a downstream start codon, compared to variant 1. The encoded isoform (b) is shorter at the N-terminus, compared to isoform a. Both variants 2 and 3 encode isoform b.
      Source sequence(s)
      AC121754, BC044953, BY800121, DA613081
      Consensus CDS
      CCDS58825.1
      UniProtKB/Swiss-Prot
      Q6ZNG0
      Conserved Domains (3) summary
      COG5048
      Location:108 → 252
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:196 → 216
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:236 → 261
      zf-H2C2_2; Zinc-finger double domain

    3. NM_175888.4 → NP_787084.1  zinc finger protein 620 isoform a

      See identical proteins and their annotated locations for NP_787084.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a).
      Source sequence(s)
      AC121754, AK131232, BC044953, BY800121
      Consensus CDS
      CCDS33740.1
      UniProtKB/Swiss-Prot
      Q6ZNG0, Q8N223
      Related
      ENSP00000322265.6, ENST00000314529.10
      Conserved Domains (5) summary
      smart00349
      Location:11 → 70
      KRAB; krueppel associated box
      COG5048
      Location:222 → 366
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:310 → 330
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:11 → 50
      KRAB; KRAB box
      pfam13465
      Location:350 → 375
      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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      40506039..40518736
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017006064.3 → XP_016861553.1  zinc finger protein 620 isoform X1

    2. XM_005265011.5 → XP_005265068.1  zinc finger protein 620 isoform X2

      See identical proteins and their annotated locations for XP_005265068.1

      UniProtKB/Swiss-Prot
      Q6ZNG0, Q8N223
      Conserved Domains (5) summary
      smart00349
      Location:11 → 70
      KRAB; krueppel associated box
      COG5048
      Location:222 → 366
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:310 → 330
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:11 → 50
      KRAB; KRAB box
      pfam13465
      Location:350 → 375
      zf-H2C2_2; Zinc-finger double domain

    3. XM_047447874.1 → XP_047303830.1  zinc finger protein 620 isoform X3

    4. XM_047447873.1 → XP_047303829.1  zinc finger protein 620 isoform X1

    5. XM_017006065.3 → XP_016861554.1  zinc finger protein 620 isoform X3

    6. XM_005265012.5 → XP_005265069.1  zinc finger protein 620 isoform X2

      See identical proteins and their annotated locations for XP_005265069.1

      UniProtKB/Swiss-Prot
      Q6ZNG0, Q8N223
      Conserved Domains (5) summary
      smart00349
      Location:11 → 70
      KRAB; krueppel associated box
      COG5048
      Location:222 → 366
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:310 → 330
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:11 → 50
      KRAB; KRAB box
      pfam13465
      Location:350 → 375
      zf-H2C2_2; Zinc-finger double domain

    7. XM_047447875.1 → XP_047303831.1  zinc finger protein 620 isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      40517919..40533780
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054345958.1 → XP_054201933.1  zinc finger protein 620 isoform X2

      UniProtKB/Swiss-Prot
      Q6ZNG0, Q8N223

    2. XM_054345956.1 → XP_054201931.1  zinc finger protein 620 isoform X1

    3. XM_054345957.1 → XP_054201932.1  zinc finger protein 620 isoform X2

      UniProtKB/Swiss-Prot
      Q6ZNG0, Q8N223

    4. XM_054345960.1 → XP_054201935.1  zinc finger protein 620 isoform X3

    5. XM_054345955.1 → XP_054201930.1  zinc finger protein 620 isoform X1

    6. XM_054345959.1 → XP_054201934.1  zinc finger protein 620 isoform X3

    7. XM_054345961.1 → XP_054201936.1  zinc finger protein 620 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6ZNG0.1 GenPept UniProtKB/Swiss-Prot:Q6ZNG0

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