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    ZNF440 zinc finger protein 440 [ Homo sapiens (human) ]

    Gene ID: 126070, updated on 11-Apr-2024

    Summary

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    Official Symbol
    ZNF440provided by HGNC
    Official Full Name
    zinc finger protein 440provided by HGNC
    Primary source
    HGNC:HGNC:20874
    See related
    Ensembl:ENSG00000171295 AllianceGenome:HGNC:20874
    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
    Ubiquitous expression in urinary bladder (RPKM 4.7), colon (RPKM 4.5) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    Location:
    19p13.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (11814273..11835216)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (11942472..11963418)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (11925088..11946031)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene zinc finger protein 441 Neighboring gene uncharacterized LOC124904639 Neighboring gene MPRA-validated peak3359 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10131 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:11908593-11909104 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14034 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14035 Neighboring gene zinc finger protein 491 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10132 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10133 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10134 Neighboring gene vomeronasal 2 receptor 13 pseudogene Neighboring gene zinc finger protein 439

    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. Zinc finger protein-440 promotes cartilage degenerative mechanisms in human facet and knee osteoarthritis chondrocytes. Nakamura A, et al. Osteoarthritis Cartilage, 2021 Mar. PMID 33347923
    2. Systematic identification of pathological lamin A interactors. Dittmer TA, et al. Mol Biol Cell, 2014 May. PMID 24623722, Free PMC Article
    3. Pooled-matrix protein interaction screens using Barcode Fusion Genetics. Yachie N, et al. Mol Syst Biol, 2016 Apr 22. PMID 27107012, Free PMC Article
    4. A human MAP kinase interactome. Bandyopadhyay S, et al. Nat Methods, 2010 Oct. PMID 20936779, Free PMC Article
    5. An atlas of combinatorial transcriptional regulation in mouse and man. Ravasi T, et al. Cell, 2010 Mar 5. PMID 20211142, Free PMC Article

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Zinc finger protein-440 promotes cartilage degenerative mechanisms in human facet and knee osteoarthritis chondrocytes.
      Title: Zinc finger protein-440 promotes cartilage degenerative mechanisms in human facet and knee osteoarthritis chondrocytes.
    2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    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

    • FLJ37933

    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 440

    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_152357.3 → NP_689570.2  zinc finger protein 440

      See identical proteins and their annotated locations for NP_689570.2

      Status: VALIDATED

      Source sequence(s)
      AC008543
      Consensus CDS
      CCDS42503.1
      UniProtKB/Swiss-Prot
      Q8IYI8, Q8N1R9
      Related
      ENSP00000305373.5, ENST00000304060.10
      Conserved Domains (5) summary
      smart00349
      Location:4 → 44
      KRAB; krueppel associated box
      COG5048
      Location:199 → 489
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:370 → 390
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:4 → 43
      KRAB; KRAB box
      pfam13465
      Location:382 → 407
      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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      11814273..11835216
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047438145.1 → XP_047294101.1  zinc finger protein 440 isoform X2

    2. XM_005259731.5 → XP_005259788.1  zinc finger protein 440 isoform X1

      Conserved Domains (5) summary
      smart00349
      Location:7 → 47
      KRAB; krueppel associated box
      COG5048
      Location:202 → 492
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:373 → 393
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:7 → 46
      KRAB; KRAB box
      pfam13465
      Location:385 → 410
      zf-H2C2_2; Zinc-finger double domain

    3. XM_017026254.2 → XP_016881743.1  zinc finger protein 440 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      11942472..11963418
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054319756.1 → XP_054175731.1  zinc finger protein 440 isoform X2

    2. XM_054319755.1 → XP_054175730.1  zinc finger protein 440 isoform X1

    3. XM_054319757.1 → XP_054175732.1  zinc finger protein 440 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IYI8.1 GenPept UniProtKB/Swiss-Prot:Q8IYI8

    Gene LinkOut

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

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