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    ZNF180 zinc finger protein 180 [ Homo sapiens (human) ]

    Gene ID: 7733, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ZNF180provided by HGNC
    Official Full Name
    zinc finger protein 180provided by HGNC
    Primary source
    HGNC:HGNC:12970
    See related
    Ensembl:ENSG00000167384 MIM:606740; AllianceGenome:HGNC:12970
    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
    HHZ168
    Summary
    Zinc finger proteins have been shown to interact with nucleic acids and to have diverse functions. The zinc finger domain is a conserved amino acid sequence motif containing 2 specifically positioned cysteines and 2 histidines that are involved in coordinating zinc. Kruppel-related proteins form 1 family of zinc finger proteins. See MIM 604749 for additional information on zinc finger proteins.[supplied by OMIM, Jul 2002]
    Expression
    Ubiquitous expression in thyroid (RPKM 1.7), prostate (RPKM 1.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ZNF180 in Genome Data Viewer
    Location:
    19q13.31
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (44474431..44500522, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (47300104..47326030, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (44978648..45004574, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr19:44937098-44937334 Neighboring gene zinc finger protein 229 Neighboring gene zinc finger protein 285B, pseudogene Neighboring gene MPRA-validated peak3500 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:45003842-45004342 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:45004343-45004843 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14763 Neighboring gene CEA cell adhesion molecule 20 Neighboring gene CEA cell adhesion molecule 22, pseudogene

    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 locus of zinc finger genes in human chromosome 19q13.1-q13.3 region by fluorescence in situ hybridization. Wang R, et al. Somat Cell Mol Genet, 1996 May. PMID 8914611
    2. Genome-wide association scan for five major dimensions of personality. Terracciano A, et al. Mol Psychiatry, 2010 Jun. PMID 18957941, Free PMC Article
    3. Differential expansion of zinc-finger transcription factor loci in homologous human and mouse gene clusters. Shannon M, et al. Genome Res, 2003 Jun. PMID 12743021, Free PMC Article
    4. HENA, heterogeneous network-based data set for Alzheimer's disease. Sügis E, et al. Sci Data, 2019 Aug 14. PMID 31413325, Free PMC Article
    5. The DNA sequence and biology of human chromosome 19. Grimwood J, et al. Nature, 2004 Apr 1. PMID 15057824

    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

    EBI GWAS Catalog

    Description
    Genome-wide association scan for five major dimensions of personality.
    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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    Homology

    Clone Names

    • AC069278.4

    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 transcription 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

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    Preferred Names
    zinc finger protein 180

    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_001278508.4 → NP_001265437.2  zinc finger protein 180 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to variant 1.
      Source sequence(s)
      AC245748
      Consensus CDS
      CCDS62708.1
      UniProtKB/TrEMBL
      G5E9B8
      Related
      ENSP00000375818.3, ENST00000391956.8
      Conserved Domains (5) summary
      smart00349
      Location:47 → 108
      KRAB; krueppel associated box
      COG5048
      Location:307 → 667
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:330 → 350
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:47 → 86
      KRAB; KRAB box
      pfam13465
      Location:370 → 395
      zf-H2C2_2; Zinc-finger double domain

    2. NM_001278509.3 → NP_001265438.2  zinc finger protein 180 isoform 3

      See identical proteins and their annotated locations for NP_001265438.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. This results in an isoform (3) with a shorter N-terminus, compared to isoform 1. Both variants 3 and 8 encode the same isoform.
      Source sequence(s)
      AC245748, AF192913, AK024047, DA947036
      Consensus CDS
      CCDS62707.1
      Related
      ENSP00000468021.1, ENST00000592529.6
      Conserved Domains (5) summary
      smart00349
      Location:45 → 106
      KRAB; krueppel associated box
      COG5048
      Location:305 → 665
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:328 → 348
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:45 → 84
      KRAB; KRAB box
      pfam13465
      Location:368 → 393
      zf-H2C2_2; Zinc-finger double domain

    3. NM_001288759.4 → NP_001275688.2  zinc finger protein 180 isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. This results in an isoform (4) with a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC245748
      UniProtKB/Swiss-Prot
      Q9UJW8
      Conserved Domains (5) summary
      smart00349
      Location:71 → 132
      KRAB; krueppel associated box
      COG5048
      Location:331 → 691
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:354 → 374
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:71 → 110
      KRAB; KRAB box
      pfam13465
      Location:394 → 419
      zf-H2C2_2; Zinc-finger double domain

    4. NM_001288760.3 → NP_001275689.1  zinc finger protein 180 isoform 5

      See identical proteins and their annotated locations for NP_001275689.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region, contains alternate exons, and initiates translation at a downstream start codon, compared to variant 1. This results in an isoform (5) with a shorter N-terminus, compared to isoform 1. Variants 5, 6, and 7 encode the same protein.
      Source sequence(s)
      AC245748, AF192913, BC051903, DA442282
      UniProtKB/Swiss-Prot
      Q9UJW8
      Conserved Domains (3) summary
      COG5048
      Location:3 → 349
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:12 → 32
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:52 → 77
      zf-H2C2_2; Zinc-finger double domain

    5. NM_001288761.3 → NP_001275690.1  zinc finger protein 180 isoform 5

      See identical proteins and their annotated locations for NP_001275690.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. This results in an isoform (5) with a shorter N-terminus, compared to isoform 1. Variants 5, 6, and 7 encode the same protein.
      Source sequence(s)
      AC245748, AF192913, AK024047, DA947036
      UniProtKB/Swiss-Prot
      Q9UJW8
      Conserved Domains (3) summary
      COG5048
      Location:3 → 349
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:12 → 32
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:52 → 77
      zf-H2C2_2; Zinc-finger double domain

    6. NM_001288762.3 → NP_001275691.1  zinc finger protein 180 isoform 5

      See identical proteins and their annotated locations for NP_001275691.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. This results in an isoform (5) with a shorter N-terminus, compared to isoform 1. Variants 5, 6, and 7 encode the same protein.
      Source sequence(s)
      AC245748, AF192913, DB223974
      UniProtKB/Swiss-Prot
      Q9UJW8
      Conserved Domains (3) summary
      COG5048
      Location:3 → 349
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:12 → 32
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:52 → 77
      zf-H2C2_2; Zinc-finger double domain

    7. NM_001291633.2 → NP_001278562.1  zinc finger protein 180 isoform 3

      See identical proteins and their annotated locations for NP_001278562.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. This results in an isoform (3) with a shorter N-terminus, compared to isoform 1. Both variants 3 and 8 encode the same isoform.
      Source sequence(s)
      AC245748, AF192913, AU132370, DA947036
      Consensus CDS
      CCDS62707.1
      Conserved Domains (5) summary
      smart00349
      Location:45 → 106
      KRAB; krueppel associated box
      COG5048
      Location:305 → 665
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:328 → 348
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:45 → 84
      KRAB; KRAB box
      pfam13465
      Location:368 → 393
      zf-H2C2_2; Zinc-finger double domain

    8. NM_013256.7 → NP_037388.3  zinc finger protein 180 isoform 1

      See identical proteins and their annotated locations for NP_037388.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC245748
      Consensus CDS
      CCDS12639.1
      UniProtKB/Swiss-Prot
      A0A0A0MP75, B2RCN6, B3KV56, K7EQX9, Q58F03, Q9P1U2, Q9UJW8
      Related
      ENSP00000221327.3, ENST00000221327.8
      Conserved Domains (5) summary
      smart00349
      Location:72 → 133
      KRAB; krueppel associated box
      COG5048
      Location:332 → 692
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:355 → 375
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:72 → 111
      KRAB; KRAB box
      pfam13465
      Location:395 → 420
      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
      44474431..44500522 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      47300104..47326030 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UJW8.3 GenPept UniProtKB/Swiss-Prot:Q9UJW8

    Gene LinkOut

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

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