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

Gene ID: 7566, updated on 17-Sep-2024

Summary

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, Apr 2022]
Expression
Ubiquitous expression in testis (RPKM 3.9), bone marrow (RPKM 2.2) and 25 other tissues See more
Orthologs
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Genomic context

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

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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

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_001303281.2NP_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:436549
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:466486
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam01352
    Location:222249
    KRAB; KRAB box
    pfam13465
    Location:506530
    zf-H2C2_2; Zinc-finger double domain
    cl02605
    Location:37148
    SCAN; SCAN oligomerization domain
  2. NM_001303282.2NP_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:37148
    SCAN; leucine rich region
    cd07765
    Location:221249
    KRAB_A-box; KRAB (Kruppel-associated box) domain -A box
    COG5048
    Location:489547
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:465485
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:435457
    zf-C2H2; Zinc finger, C2H2 type
    pfam02023
    Location:37125
    SCAN; SCAN domain
    pfam13465
    Location:505529
    zf-H2C2_2; Zinc-finger double domain
  3. NM_144680.4NP_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:436549
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:466486
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam01352
    Location:222249
    KRAB; KRAB box
    pfam13465
    Location:506530
    zf-H2C2_2; Zinc-finger double domain
    cl02605
    Location:37148
    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_024450911.2XP_024306679.1  zinc finger protein 18 isoform X1

    UniProtKB/Swiss-Prot
    P17022, Q5QHQ3, Q8IYC4, Q8NAH6
    Conserved Domains (5) summary
    COG5048
    Location:436549
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:466486
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam01352
    Location:222249
    KRAB; KRAB box
    pfam13465
    Location:506530
    zf-H2C2_2; Zinc-finger double domain
    cl02605
    Location:37148
    SCAN; SCAN oligomerization domain
  2. XM_024450909.2XP_024306677.1  zinc finger protein 18 isoform X1

    UniProtKB/Swiss-Prot
    P17022, Q5QHQ3, Q8IYC4, Q8NAH6
    Conserved Domains (5) summary
    COG5048
    Location:436549
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:466486
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam01352
    Location:222249
    KRAB; KRAB box
    pfam13465
    Location:506530
    zf-H2C2_2; Zinc-finger double domain
    cl02605
    Location:37148
    SCAN; SCAN oligomerization domain
  3. XM_047436649.1XP_047292605.1  zinc finger protein 18 isoform X2

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

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

    UniProtKB/Swiss-Prot
    P17022, Q5QHQ3, Q8IYC4, Q8NAH6
  6. XM_017025011.3XP_016880500.1  zinc finger protein 18 isoform X2

    UniProtKB/Swiss-Prot
    P17022
    Conserved Domains (7) summary
    smart00431
    Location:37148
    SCAN; leucine rich region
    cd07765
    Location:221249
    KRAB_A-box; KRAB (Kruppel-associated box) domain -A box
    COG5048
    Location:489547
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:465485
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:435457
    zf-C2H2; Zinc finger, C2H2 type
    pfam02023
    Location:37125
    SCAN; SCAN domain
    pfam13465
    Location:505529
    zf-H2C2_2; Zinc-finger double domain
  7. XM_017025010.3XP_016880499.1  zinc finger protein 18 isoform X2

    UniProtKB/Swiss-Prot
    P17022
    Conserved Domains (7) summary
    smart00431
    Location:37148
    SCAN; leucine rich region
    cd07765
    Location:221249
    KRAB_A-box; KRAB (Kruppel-associated box) domain -A box
    COG5048
    Location:489547
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:465485
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:435457
    zf-C2H2; Zinc finger, C2H2 type
    pfam02023
    Location:37125
    SCAN; SCAN domain
    pfam13465
    Location:505529
    zf-H2C2_2; Zinc-finger double domain
  8. XM_011524002.4XP_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:436549
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:466486
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam01352
    Location:222249
    KRAB; KRAB box
    pfam13465
    Location:506530
    zf-H2C2_2; Zinc-finger double domain
    cl02605
    Location:37148
    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_054317048.1XP_054173023.1  zinc finger protein 18 isoform X1

    UniProtKB/Swiss-Prot
    P17022, Q5QHQ3, Q8IYC4, Q8NAH6
  2. XM_054317046.1XP_054173021.1  zinc finger protein 18 isoform X1

    UniProtKB/Swiss-Prot
    P17022, Q5QHQ3, Q8IYC4, Q8NAH6
  3. XM_054317051.1XP_054173026.1  zinc finger protein 18 isoform X2

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

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

    UniProtKB/Swiss-Prot
    P17022, Q5QHQ3, Q8IYC4, Q8NAH6
  6. XM_054317053.1XP_054173028.1  zinc finger protein 18 isoform X2

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

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

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