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    ZNF18 zinc finger protein 18 [ Homo sapiens (human) ]

    Gene ID: 7566, updated on 27-Nov-2024

    Summary

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    Official Symbol
    ZNF18provided by HGNC
    Official Full Name
    zinc finger protein 18provided by HGNC
    Primary source
    HGNC:HGNC:12969
    See related
    Ensembl:ENSG00000154957 MIM:194524; AllianceGenome:HGNC:12969
    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
    Also known as
    HDSG1; KOX11; ZNF535; Zfp535; ZKSCAN6; ZSCAN38
    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 located in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 3.9), bone marrow (RPKM 2.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ZNF18 in Genome Data Viewer
    Location:
    17p12
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (11977439..12021527, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (11885437..11929509, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (11880756..11900792, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene dynein axonemal heavy chain 9 Neighboring gene uncharacterized LOC101928350 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:11812057-11812249 Neighboring gene NANOG hESC enhancer GRCh37_chr17:11831780-11832352 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:11851561-11852062 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:11852063-11852562 Neighboring gene uncharacterized LOC124903928 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr17:11879623-11880182 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:11894608-11895262 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:11900873-11901856 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:11923994-11924494 Neighboring gene ribosomal protein L21 pseudogene 122 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:11949815-11950698 Neighboring gene mitogen-activated protein kinase kinase 4 Neighboring gene RNA, U11 small nuclear 2, pseudogene Neighboring gene uncharacterized LOC124904155

    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. Identification and characterization of human ZNF18 gene in silico. Yoshida K. Int J Mol Med, 2005 Mar. PMID 15702252
    2. [Molecular cloning and expression analysis of a novel human gene ZNF18]. Guo LL, et al. Yi Chuan, 2005 Jul. PMID 16120570
    3. Twenty-seven nonoverlapping zinc finger cDNAs from human T cells map to nine different chromosomes with apparent clustering. Huebner K, et al. Am J Hum Genet, 1991 Apr. PMID 2014798, Free PMC Article
    4. Multiple genes encoding zinc finger domains are expressed in human T cells. Thiesen HJ. New Biol, 1990 Apr. PMID 2288909
    5. ZFP36L2 is a cell cycle-regulated CCCH protein necessary for DNA lesion-induced S-phase arrest. Noguchi A, et al. Biol Open, 2018 Mar 12. PMID 29449217, Free PMC Article

    See all (18) 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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    zinc finger protein 18
    Names
    heart development-specific gene 1 protein
    zinc finger protein 18 (KOX 11)
    zinc finger protein 535
    zinc finger protein with KRAB and SCAN domains 6

    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_001303281.2 → NP_001290210.1  zinc finger protein 18 isoform 1

      See identical proteins and their annotated locations for NP_001290210.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode isoform 1.
      Source sequence(s)
      AA243557, AK127908, BC036096, DB056532
      Consensus CDS
      CCDS32568.1
      UniProtKB/Swiss-Prot
      P17022, Q5QHQ3, Q8IYC4, Q8NAH6
      Related
      ENSP00000463471.1, ENST00000580306.7
      Conserved Domains (5) summary
      COG5048
      Location:436 → 549
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:466 → 486
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:222 → 249
      KRAB; KRAB box
      pfam13465
      Location:506 → 530
      zf-H2C2_2; Zinc-finger double domain
      cl02605
      Location:37 → 148
      SCAN; SCAN oligomerization domain

    2. NM_001303282.2 → NP_001290211.1  zinc finger protein 18 isoform 2

      See identical proteins and their annotated locations for NP_001290211.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and uses an alternate in-frame splice site, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AA243557, AC005410, AY491053, DB056532
      Consensus CDS
      CCDS76957.1
      UniProtKB/Swiss-Prot
      P17022
      Related
      ENSP00000391376.3, ENST00000454073.7
      Conserved Domains (7) summary
      smart00431
      Location:37 → 148
      SCAN; leucine rich region
      cd07765
      Location:221 → 249
      KRAB_A-box; KRAB (Kruppel-associated box) domain -A box
      COG5048
      Location:489 → 547
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:465 → 485
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:435 → 457
      zf-C2H2; Zinc finger, C2H2 type
      pfam02023
      Location:37 → 125
      SCAN; SCAN domain
      pfam13465
      Location:505 → 529
      zf-H2C2_2; Zinc-finger double domain

    3. NM_144680.4 → NP_653281.2  zinc finger protein 18 isoform 1

      See identical proteins and their annotated locations for NP_653281.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Variants 1 and 2 encode isoform 1.
      Source sequence(s)
      AA243557, AC005410, AK092656, BC036096
      Consensus CDS
      CCDS32568.1
      UniProtKB/Swiss-Prot
      P17022, Q5QHQ3, Q8IYC4, Q8NAH6
      Related
      ENSP00000315664.3, ENST00000322748.7
      Conserved Domains (5) summary
      COG5048
      Location:436 → 549
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:466 → 486
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:222 → 249
      KRAB; KRAB box
      pfam13465
      Location:506 → 530
      zf-H2C2_2; Zinc-finger double domain
      cl02605
      Location:37 → 148
      SCAN; SCAN oligomerization 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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      11977439..12021527 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024450911.2 → XP_024306679.1  zinc finger protein 18 isoform X1

      UniProtKB/Swiss-Prot
      P17022, Q5QHQ3, Q8IYC4, Q8NAH6
      Conserved Domains (5) summary
      COG5048
      Location:436 → 549
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:466 → 486
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:222 → 249
      KRAB; KRAB box
      pfam13465
      Location:506 → 530
      zf-H2C2_2; Zinc-finger double domain
      cl02605
      Location:37 → 148
      SCAN; SCAN oligomerization domain

    2. XM_024450909.2 → XP_024306677.1  zinc finger protein 18 isoform X1

      UniProtKB/Swiss-Prot
      P17022, Q5QHQ3, Q8IYC4, Q8NAH6
      Conserved Domains (5) summary
      COG5048
      Location:436 → 549
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:466 → 486
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:222 → 249
      KRAB; KRAB box
      pfam13465
      Location:506 → 530
      zf-H2C2_2; Zinc-finger double domain
      cl02605
      Location:37 → 148
      SCAN; SCAN oligomerization domain

    3. XM_047436649.1 → XP_047292605.1  zinc finger protein 18 isoform X2

    4. XM_047436648.1 → XP_047292604.1  zinc finger protein 18 isoform X2

    5. XM_047436647.1 → XP_047292603.1  zinc finger protein 18 isoform X1

      UniProtKB/Swiss-Prot
      P17022, Q5QHQ3, Q8IYC4, Q8NAH6

    6. XM_017025011.3 → XP_016880500.1  zinc finger protein 18 isoform X2

      UniProtKB/Swiss-Prot
      P17022
      Conserved Domains (7) summary
      smart00431
      Location:37 → 148
      SCAN; leucine rich region
      cd07765
      Location:221 → 249
      KRAB_A-box; KRAB (Kruppel-associated box) domain -A box
      COG5048
      Location:489 → 547
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:465 → 485
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:435 → 457
      zf-C2H2; Zinc finger, C2H2 type
      pfam02023
      Location:37 → 125
      SCAN; SCAN domain
      pfam13465
      Location:505 → 529
      zf-H2C2_2; Zinc-finger double domain

    7. XM_017025010.3 → XP_016880499.1  zinc finger protein 18 isoform X2

      UniProtKB/Swiss-Prot
      P17022
      Conserved Domains (7) summary
      smart00431
      Location:37 → 148
      SCAN; leucine rich region
      cd07765
      Location:221 → 249
      KRAB_A-box; KRAB (Kruppel-associated box) domain -A box
      COG5048
      Location:489 → 547
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:465 → 485
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:435 → 457
      zf-C2H2; Zinc finger, C2H2 type
      pfam02023
      Location:37 → 125
      SCAN; SCAN domain
      pfam13465
      Location:505 → 529
      zf-H2C2_2; Zinc-finger double domain

    8. XM_011524002.4 → XP_011522304.1  zinc finger protein 18 isoform X1

      See identical proteins and their annotated locations for XP_011522304.1

      UniProtKB/Swiss-Prot
      P17022, Q5QHQ3, Q8IYC4, Q8NAH6
      Conserved Domains (5) summary
      COG5048
      Location:436 → 549
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:466 → 486
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:222 → 249
      KRAB; KRAB box
      pfam13465
      Location:506 → 530
      zf-H2C2_2; Zinc-finger double domain
      cl02605
      Location:37 → 148
      SCAN; SCAN oligomerization domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      11885437..11929509 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054317048.1 → XP_054173023.1  zinc finger protein 18 isoform X1

      UniProtKB/Swiss-Prot
      P17022, Q5QHQ3, Q8IYC4, Q8NAH6

    2. XM_054317046.1 → XP_054173021.1  zinc finger protein 18 isoform X1

      UniProtKB/Swiss-Prot
      P17022, Q5QHQ3, Q8IYC4, Q8NAH6

    3. XM_054317051.1 → XP_054173026.1  zinc finger protein 18 isoform X2

    4. XM_054317050.1 → XP_054173025.1  zinc finger protein 18 isoform X2

    5. XM_054317047.1 → XP_054173022.1  zinc finger protein 18 isoform X1

      UniProtKB/Swiss-Prot
      P17022, Q5QHQ3, Q8IYC4, Q8NAH6

    6. XM_054317053.1 → XP_054173028.1  zinc finger protein 18 isoform X2

    7. XM_054317052.1 → XP_054173027.1  zinc finger protein 18 isoform X2

    8. XM_054317049.1 → XP_054173024.1  zinc finger protein 18 isoform X1

      UniProtKB/Swiss-Prot
      P17022, Q5QHQ3, Q8IYC4, Q8NAH6
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P17022.2 GenPept UniProtKB/Swiss-Prot:P17022

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