U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from OMIM

    • Showing Current items.

    ZNF549 zinc finger protein 549 [ Homo sapiens (human) ]

    Gene ID: 256051, updated on 2-Nov-2024

    Summary

    Go to the top of the page Help
    Official Symbol
    ZNF549provided by HGNC
    Official Full Name
    zinc finger protein 549provided by HGNC
    Primary source
    HGNC:HGNC:26632
    See related
    Ensembl:ENSG00000121406 MIM:620720; AllianceGenome:HGNC:26632
    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 transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 2.9), spleen (RPKM 2.6) and 25 other tissues See more
    Orthologs
    all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    See ZNF549 in Genome Data Viewer
    Location:
    19q13.43
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (57527356..57540876)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (60624284..60637804)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (58038724..58052244)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:57998906-57999406 Neighboring gene zinc finger protein 419 Neighboring gene zinc finger protein 773 Neighboring gene zinc finger protein 550 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15144 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:58070497-58071361 Neighboring gene uncharacterized LOC124904781 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr19:58071339-58072538 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11076 Neighboring gene zinc finger protein 416

    Genomic regions, transcripts, and products

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • 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

    Go to the top of the pageHelp

    Related articles in PubMed

    1. MicroRNA-708 targeting ZNF549 regulates colon adenocarcinoma development through PI3K/AKt pathway. Zhao Z, et al. Sci Rep, 2020 Oct 7. PMID 33028966, Free PMC Article
    2. 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
    3. Protein interaction landscapes revealed by advanced in vivo cross-linking-mass spectrometry. Wheat A, et al. Proc Natl Acad Sci U S A, 2021 Aug 10. PMID 34349018, 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 (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

    Go to the top of the page Help

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

    Go to the top of the page Help

    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    Markers

    Homology

    Clone Names

    • FLJ34917

    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
    		  
    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

    Go to the top of the page Help
    Preferred Names
    zinc finger protein 549

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    NEW Try the new Transcript table

    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_001199295.2 → NP_001186224.2  zinc finger protein 549 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC003682
      Consensus CDS
      CCDS56106.1
      UniProtKB/Swiss-Prot
      B3KV91, O43336, Q6P9A3, Q8NAR4
      Related
      ENSP00000365407.2, ENST00000376233.8
      Conserved Domains (4) summary
      COG5048
      Location:223 → 603
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:391 → 411
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:27 → 67
      KRAB; KRAB box
      pfam13465
      Location:600 → 624
      zf-H2C2_2; Zinc-finger double domain

    2. NM_153263.3 → NP_694995.3  zinc finger protein 549 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate exon] in the 5' coding region, compared to variant 1. Isoform 2 has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC003682
      Consensus CDS
      CCDS12952.1
      Related
      ENSP00000240719.2, ENST00000240719.7
      Conserved Domains (4) summary
      COG5048
      Location:210 → 590
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:378 → 398
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:14 → 54
      KRAB; KRAB box
      pfam13465
      Location:587 → 611
      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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      57527356..57540876
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047438563.1 → XP_047294519.1  zinc finger protein 549 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      60624284..60637804
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054320452.1 → XP_054176427.1  zinc finger protein 549 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6P9A3.2 GenPept UniProtKB/Swiss-Prot:Q6P9A3

    Gene LinkOut

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

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous