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    ZNF626 zinc finger protein 626 [ Homo sapiens (human) ]

    Gene ID: 199777, updated on 27-Nov-2024

    Summary

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    Official Symbol
    ZNF626provided by HGNC
    Official Full Name
    zinc finger protein 626provided by HGNC
    Primary source
    HGNC:HGNC:30461
    See related
    Ensembl:ENSG00000188171 AllianceGenome:HGNC:30461
    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 DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 4.5), urinary bladder (RPKM 4.1) and 24 other tissues See more
    Orthologs
    all
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    Genomic context

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    See ZNF626 in Genome Data Viewer
    Location:
    19p12
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (20619939..20661571, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (20757899..20799374, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (20802745..20844377, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene vomeronasal 1 receptor 78 pseudogene Neighboring gene uncharacterized LOC105372318 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:20796649-20796907 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10458 Neighboring gene zinc finger protein 430-like Neighboring gene zinc finger protein 85 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. A protein-protein interaction network of transcription factors acting during liver cell proliferation. Gao J, et al. Genomics, 2008 Apr. PMID 18255255
    2. Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans. Del-Aguila JL, et al. Pharmacogenomics J, 2014 Feb. PMID 23400010, 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. Integrative oncogene-dependency mapping identifies RIT1 vulnerabilities and synergies in lung cancer. Vichas A, et al. Nat Commun, 2021 Aug 9. PMID 34373451, Free PMC Article
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

    See all (7) 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 suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC104224

    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 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
    		  
    Process Evidence Code Pubs
    involved_in regulation of DNA-templated transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II 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 626
    Names
    CTC-513N18.7

    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_001076675.3 → NP_001070143.1  zinc finger protein 626 isoform 1

      See identical proteins and their annotated locations for NP_001070143.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC010636
      Consensus CDS
      CCDS42535.1
      UniProtKB/Swiss-Prot
      Q68DY1, Q8N8T4, Q96QM1
      Related
      ENSP00000469958.1, ENST00000601440.6
      Conserved Domains (5) summary
      smart00349
      Location:4 → 62
      KRAB; krueppel associated box
      COG5048
      Location:199 → 520
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:343 → 363
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:6 → 43
      KRAB; KRAB box
      pfam13465
      Location:215 → 240
      zf-H2C2_2; Zinc-finger double domain

    2. NM_001412412.1 → NP_001399341.1  zinc finger protein 626 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) represents an alternate allele of variant 1 (NM_001076675.3) on T2T-CHM13v2.0 genome assembly. It includes a deletion in the 3' coding region resulting in a frameshift compared to variant 1. It encodes isoform 3, which has a different and longer C-terminus compared to isoform 1.
      Source sequence(s)
      CP068259
      UniProtKB/TrEMBL
      B9EK70

    3. NM_145297.4 → NP_660340.1  zinc finger protein 626 isoform 2

      See identical proteins and their annotated locations for NP_660340.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains a distinct 3' CDS and 3' UTR, compared to variant 1. The resulting protein (isoform 2) has a shorter C-terminus and lacks the zinc finger domain, compared to isoform 1.
      Source sequence(s)
      AC010636, BC107803
      Consensus CDS
      CCDS32976.1
      UniProtKB/TrEMBL
      K7ES58
      Related
      ENSP00000291750.6, ENST00000291750.6
      Conserved Domains (1) summary
      smart00349
      Location:4 → 62
      KRAB; krueppel associated box

    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
      20619939..20661571 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      20757899..20799374 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q68DY1.2 GenPept UniProtKB/Swiss-Prot:Q68DY1

    Gene LinkOut

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

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