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    ZNF596 zinc finger protein 596 [ Homo sapiens (human) ]

    Gene ID: 169270, updated on 28-Oct-2024

    Summary

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    Official Symbol
    ZNF596provided by HGNC
    Official Full Name
    zinc finger protein 596provided by HGNC
    Primary source
    HGNC:HGNC:27268
    See related
    Ensembl:ENSG00000172748 AllianceGenome:HGNC:27268
    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 transcription 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, Oct 2024]
    Expression
    Broad expression in testis (RPKM 4.6), thyroid (RPKM 1.6) and 23 other tissues See more
    Orthologs
    all
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    Genomic context

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    See ZNF596 in Genome Data Viewer
    Location:
    8p23.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (232137..247340)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (28942..44149)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (182137..197340)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902051 Neighboring gene septin 14 pseudogene 8 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18876 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:157026-157248 Neighboring gene ribosomal protein L23a pseudogene 53 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18877 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26938 Neighboring gene uncharacterized LOC101927566 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26939 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26940 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26941 Neighboring gene uncharacterized LOC124902052

    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. Admixture mapping reveals evidence of differential multiple sclerosis risk by genetic ancestry. Chi C, et al. PLoS Genet, 2019 Jan. PMID 30653506, Free PMC Article
    2. DNA sequence and analysis of human chromosome 8. Nusbaum C, et al. Nature, 2006 Jan 19. PMID 16421571
    3. Toward an understanding of the protein interaction network of the human liver. Wang J, et al. Mol Syst Biol, 2011 Oct 11. PMID 21988832, Free PMC Article
    4. 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
    5. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article

    See all (9) 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

    • FLJ36123

    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 596
    NP_001035880.1
    NP_001035881.1
    NP_001274183.1
    NP_001274184.1
    NP_001274185.1
    NP_001274328.1
    NP_775810.2
    XP_011533046.1
    XP_047277370.1
    XP_054215876.1
    XP_054215877.1

    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_001042415.3 → NP_001035880.1  zinc finger protein 596 isoform 1

      See identical proteins and their annotated locations for NP_001035880.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 through 6 encode the same isoform (1).
      Source sequence(s)
      AC004908, BC026190, DA504426, DB514599
      Consensus CDS
      CCDS5951.2
      UniProtKB/Swiss-Prot
      B2R8P4, O95015, Q8N9X0, Q8TC21
      Conserved Domains (5) summary
      smart00349
      Location:7 → 67
      KRAB; krueppel associated box
      COG5048
      Location:361 → 502
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:365 → 385
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:7 → 46
      KRAB; KRAB box
      pfam13465
      Location:434 → 458
      zf-H2C2_2; Zinc-finger double domain

    2. NM_001042416.3 → NP_001035881.1  zinc finger protein 596 isoform 1

      See identical proteins and their annotated locations for NP_001035881.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1 through 6 encode the same isoform (1).
      Source sequence(s)
      AC004908, AK313454, BC026190, DA714658, DB514599
      Consensus CDS
      CCDS5951.2
      UniProtKB/Swiss-Prot
      B2R8P4, O95015, Q8N9X0, Q8TC21
      Related
      ENSP00000381613.1, ENST00000398612.3
      Conserved Domains (5) summary
      smart00349
      Location:7 → 67
      KRAB; krueppel associated box
      COG5048
      Location:361 → 502
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:365 → 385
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:7 → 46
      KRAB; KRAB box
      pfam13465
      Location:434 → 458
      zf-H2C2_2; Zinc-finger double domain

    3. NM_001287254.2 → NP_001274183.1  zinc finger protein 596 isoform 1

      See identical proteins and their annotated locations for NP_001274183.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1 through 6 encode the same isoform (1).
      Source sequence(s)
      AC004908, BC026190, DB514599, DR006332
      Consensus CDS
      CCDS5951.2
      UniProtKB/Swiss-Prot
      B2R8P4, O95015, Q8N9X0, Q8TC21
      Conserved Domains (5) summary
      smart00349
      Location:7 → 67
      KRAB; krueppel associated box
      COG5048
      Location:361 → 502
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:365 → 385
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:7 → 46
      KRAB; KRAB box
      pfam13465
      Location:434 → 458
      zf-H2C2_2; Zinc-finger double domain

    4. NM_001287255.1 → NP_001274184.1  zinc finger protein 596 isoform 1

      See identical proteins and their annotated locations for NP_001274184.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. Variants 1 through 6 encode the same isoform (1).
      Source sequence(s)
      AC004908, BC026190, DB034950, DB047692, DB055646, DB514599
      Consensus CDS
      CCDS5951.2
      UniProtKB/Swiss-Prot
      B2R8P4, O95015, Q8N9X0, Q8TC21
      Related
      ENSP00000318719.3, ENST00000320552.6
      Conserved Domains (5) summary
      smart00349
      Location:7 → 67
      KRAB; krueppel associated box
      COG5048
      Location:361 → 502
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:365 → 385
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:7 → 46
      KRAB; KRAB box
      pfam13465
      Location:434 → 458
      zf-H2C2_2; Zinc-finger double domain

    5. NM_001287256.1 → NP_001274185.1  zinc finger protein 596 isoform 1

      See identical proteins and their annotated locations for NP_001274185.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR compared to variant 1. Variants 1 through 6 encode the same isoform (1).
      Source sequence(s)
      AC004908, BC026190, DB034950, DB055646, DB514599
      Consensus CDS
      CCDS5951.2
      UniProtKB/Swiss-Prot
      B2R8P4, O95015, Q8N9X0, Q8TC21
      Conserved Domains (5) summary
      smart00349
      Location:7 → 67
      KRAB; krueppel associated box
      COG5048
      Location:361 → 502
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:365 → 385
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:7 → 46
      KRAB; KRAB box
      pfam13465
      Location:434 → 458
      zf-H2C2_2; Zinc-finger double domain

    6. NM_001287399.1 → NP_001274328.1  zinc finger protein 596 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR and the 5' coding region and initiates translation at a downstream start codon, compared to variant 1. It encodes isoform 2, which is shorter at the N-terminus, compared to isoform 1.
      Source sequence(s)
      AC004908, BC026190, BM478564, DB031878, DB053699, DB514599
      UniProtKB/Swiss-Prot
      Q8TC21
      Conserved Domains (2) summary
      COG5048
      Location:228 → 369
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:232 → 252
      ZF_C2H2; C2H2 Zn finger [structural motif]

    7. NM_173539.3 → NP_775810.2  zinc finger protein 596 isoform 1

      See identical proteins and their annotated locations for NP_775810.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1 through 6 encode the same isoform (1).
      Source sequence(s)
      AC004908, AK313454, BC026190, BG771504, DB031878, DB053699, DB514599
      Consensus CDS
      CCDS5951.2
      UniProtKB/Swiss-Prot
      B2R8P4, O95015, Q8N9X0, Q8TC21
      Related
      ENSP00000310033.4, ENST00000308811.8
      Conserved Domains (5) summary
      smart00349
      Location:7 → 67
      KRAB; krueppel associated box
      COG5048
      Location:361 → 502
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:365 → 385
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:7 → 46
      KRAB; KRAB box
      pfam13465
      Location:434 → 458
      zf-H2C2_2; Zinc-finger double 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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      232137..247340
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047421414.1 → XP_047277370.1  zinc finger protein 596 isoform X1

      UniProtKB/Swiss-Prot
      B2R8P4, O95015, Q8N9X0, Q8TC21

    2. XM_011534744.2 → XP_011533046.1  zinc finger protein 596 isoform X2

      See identical proteins and their annotated locations for XP_011533046.1

      Conserved Domains (4) summary
      smart00349
      Location:1 → 32
      KRAB; krueppel associated box
      COG5048
      Location:326 → 467
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:330 → 350
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:399 → 423
      zf-H2C2_2; Zinc-finger double domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      28942..44149
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054359901.1 → XP_054215876.1  zinc finger protein 596 isoform X1

      UniProtKB/Swiss-Prot
      B2R8P4, O95015, Q8N9X0, Q8TC21

    2. XM_054359902.1 → XP_054215877.1  zinc finger protein 596 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TC21.2 GenPept UniProtKB/Swiss-Prot:Q8TC21

    Gene LinkOut

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