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ZNF184 zinc finger protein 184 [ Homo sapiens (human) ]

Gene ID: 7738, updated on 27-Nov-2024

Summary

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Official Symbol
ZNF184provided by HGNC
Official Full Name
zinc finger protein 184provided by HGNC
Primary source
HGNC:HGNC:12975
See related
Ensembl:ENSG00000096654 MIM:602277; AllianceGenome:HGNC:12975
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
kr-ZNF3
Summary
The protein encoded by this gene is predicted to be a Kruppel C2H2-type zinc-finger protein family member. Sequence analysis predicts that the protein contains two Kruppel associated box (KRAB) boxes in the N-terminus and highly conserved zinc finger motifs at the C-terminus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2016]
Expression
Ubiquitous expression in testis (RPKM 5.2), brain (RPKM 3.7) and 25 other tissues See more
Orthologs
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Genomic context

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See ZNF184 in Genome Data Viewer
Location:
6p22.1
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (27404006..27473105, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (27273136..27342237, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (27371785..27440884, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene tRNA-Lys (anticodon TTT) 6-1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:27335298-27335798 Neighboring gene zinc finger protein 204, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:27335799-27336299 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:27340678-27340840 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24282 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:27346083-27346611 Neighboring gene zinc finger protein 391 Neighboring gene multiple coagulation factor deficiency 2 pseudogene 1 Neighboring gene MPRA-validated peak5742 silencer Neighboring gene MPRA-validated peak5743 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24283 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24284 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24285 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24286 Neighboring gene uncharacterized LOC105375001 Neighboring gene tRNA-Ser (anticodon AGA) 2-2

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 of a novel Krueppel-related zinc finger gene (ZNF184) mapping to 6p21.3. Goldwurm S, et al. Genomics, 1997 Mar 15. PMID 9073517
  2. Pleiotropic Analysis of Lung Cancer and Blood Triglycerides. Zuber V, et al. J Natl Cancer Inst, 2016 Dec. PMID 27565901, Free PMC Article
  3. Association between ZNF184 and symptoms of Parkinson's disease in southern Chinese. Zhang B, et al. Neurol Sci, 2020 Aug. PMID 32125537
  4. Long intergenic non-protein coding RNA 00858 participates in the occurrence and development of esophageal squamous cell carcinoma through the activation of the FTO-m6A-MYC axis by recruiting ZNF184. Ke S, et al. Genomics, 2023 May. PMID 36868327
  5. Common variants on chromosome 6p22.1 are associated with schizophrenia. Shi J, et al. Nature, 2009 Aug 6. PMID 19571809, Free PMC Article

See all (27) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Long intergenic non-protein coding RNA 00858 participates in the occurrence and development of esophageal squamous cell carcinoma through the activation of the FTO-m6A-MYC axis by recruiting ZNF184.
    Title: Long intergenic non-protein coding RNA 00858 participates in the occurrence and development of esophageal squamous cell carcinoma through the activation of the FTO-m6A-MYC axis by recruiting ZNF184.
  2. Association between ZNF184 and symptoms of Parkinson's disease in southern Chinese.
    Title: Association between ZNF184 and symptoms of Parkinson's disease in southern Chinese.
  3. We found that 6p22.1 (rs6904596, ZNF184) was associated with both lung cancer and blood triglycerides.
    Title: Pleiotropic Analysis of Lung Cancer and Blood Triglycerides.
  4. Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator)
    Title: Common variants on chromosome 6p22.1 are associated with schizophrenia.
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

EBI GWAS Catalog

Description
Common variants on chromosome 6p22.1 are associated with schizophrenia.
EBI GWAS Catalog
GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.
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

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 zinc ion binding NAS
Non-traceable Author Statement
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 184
Names
zinc finger protein 184 (Kruppel-like)

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.

Genomic

  1. NG_052614.1 RefSeqGene

    Range
    5014..27372
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001318891.2 → NP_001305820.1  zinc finger protein 184 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1). Variants 1, 2, and 3, encode the same isoform (1).
    Source sequence(s)
    AK123011, AK312804, BC022992, BM675205, BX496218, DB090589
    Consensus CDS
    CCDS4624.1
    UniProtKB/Swiss-Prot
    B2R715, O60792, Q8TBA9, Q99676
    Related
    ENSP00000508298.1, ENST00000683788.1
    Conserved Domains (6) summary
    smart00349
    Location:28 → 88
    KRAB; krueppel associated box
    COG5048
    Location:360 → 736
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:308 → 328
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:418 → 440
    zf-C2H2; Zinc finger, C2H2 type
    pfam01352
    Location:28 → 67
    KRAB; KRAB box
    pfam13465
    Location:292 → 317
    zf-H2C2_2; Zinc-finger double domain

  2. NM_001318892.2 → NP_001305821.1  zinc finger protein 184 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 3, encode the same isoform (1).
    Source sequence(s)
    AL021918, BC022992, BM675205, BX496218, DB076907, DB244087
    Consensus CDS
    CCDS4624.1
    UniProtKB/Swiss-Prot
    B2R715, O60792, Q8TBA9, Q99676
    Related
    ENSP00000366636.1, ENST00000377419.1
    Conserved Domains (6) summary
    smart00349
    Location:28 → 88
    KRAB; krueppel associated box
    COG5048
    Location:360 → 736
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:308 → 328
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:418 → 440
    zf-C2H2; Zinc finger, C2H2 type
    pfam01352
    Location:28 → 67
    KRAB; KRAB box
    pfam13465
    Location:292 → 317
    zf-H2C2_2; Zinc-finger double domain

  3. NM_001318893.2 → NP_001305822.1  zinc finger protein 184 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate splice site in the 5' coding region and initiates translation at an alternate downstream start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1. Variants 4 and 5 encode the same isoform (2).
    Source sequence(s)
    AL021918, BC022992, BM675205, CX870289, DB090589
    UniProtKB/Swiss-Prot
    Q99676
    Conserved Domains (2) summary
    COG5048
    Location:284 → 660
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:232 → 252
    ZF_C2H2; C2H2 Zn finger [structural motif]

  4. NM_001347832.2 → NP_001334761.1  zinc finger protein 184 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR, uses an alternate splice site in the 5' coding region and initiates translation at an alternate downstream start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1. Variants 4 and 5 encode the same isoform (2).
    Source sequence(s)
    AL021918, BC022992, BM675205, CX870289, DB090589
    UniProtKB/Swiss-Prot
    Q99676
    Conserved Domains (2) summary
    COG5048
    Location:284 → 660
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:232 → 252
    ZF_C2H2; C2H2 Zn finger [structural motif]

  5. NM_007149.3 → NP_009080.2  zinc finger protein 184 isoform 1

    See identical proteins and their annotated locations for NP_009080.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site in the 5' UTR compared to variant 1. Variants 1, 2, and 3, encode the same isoform (1).
    Source sequence(s)
    AK123011, BC022992, BM675205, DB090589
    Consensus CDS
    CCDS4624.1
    UniProtKB/Swiss-Prot
    B2R715, O60792, Q8TBA9, Q99676
    Related
    ENSP00000211936.6, ENST00000211936.10
    Conserved Domains (6) summary
    smart00349
    Location:28 → 88
    KRAB; krueppel associated box
    COG5048
    Location:360 → 736
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:308 → 328
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:418 → 440
    zf-C2H2; Zinc finger, C2H2 type
    pfam01352
    Location:28 → 67
    KRAB; KRAB box
    pfam13465
    Location:292 → 317
    zf-H2C2_2; Zinc-finger double domain

RNA

  1. NR_144687.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) uses an alternate 5' and 3' exon structure, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AA355479, AI610079, AL031118, DA315543, DB090589

  2. NR_144688.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) uses an alternate 5' and 3' exon structure, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AA355479, AL031118, DA315543, DB090589

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_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    27404006..27473105 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    27273136..27342237 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q99676.4 GenPept UniProtKB/Swiss-Prot:Q99676

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