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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
    mouse all
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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

    Gene LinkOut

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