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

Gene ID: 169270, updated on 11-Apr-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 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
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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Location:
8p23.3
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (232137..247340)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (28942..44149)
105.20220307 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
  • 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_2023_10

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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