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    ZNF112 zinc finger protein 112 [ Homo sapiens (human) ]

    Gene ID: 7771, updated on 5-Mar-2024

    Summary

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    Official Symbol
    ZNF112provided by HGNC
    Official Full Name
    zinc finger protein 112provided by HGNC
    Primary source
    HGNC:HGNC:12892
    See related
    Ensembl:ENSG00000062370 MIM:603994; AllianceGenome:HGNC:12892
    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
    ZFP112; ZNF228
    Summary
    Predicted to enable DNA-binding transcription activator 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 active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in thyroid (RPKM 2.5), prostate (RPKM 2.2) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    19q13.31
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (44326553..44367217, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (47149447..47190001, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (44830706..44871377, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene mitochondrial ribosomal protein S15 pseudogene 2 Neighboring gene zinc finger protein 235 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr19:44808961-44809514 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:44810091-44810592 Neighboring gene NADH:ubiquinone oxidoreductase subunit A3 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:44810593-44811092 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:44860641-44861141 Neighboring gene zinc finger protein 285 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:44905171-44905927 Neighboring gene MPRA-validated peak3499 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr19:44937098-44937334 Neighboring gene zinc finger protein 229

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Clustered organization of homologous KRAB zinc-finger genes with enhanced expression in human T lymphoid cells. Bellefroid EJ, et al. EMBO J, 1993 Apr. PMID 8467795, Free PMC Article
    2. 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
    3. The DNA sequence and biology of human chromosome 19. Grimwood J, et al. Nature, 2004 Apr 1. PMID 15057824
    4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

    See all (9) 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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Potential readthrough

    Included gene: ZNF285

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription activator 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
    		  
    Process Evidence Code Pubs
    involved_in positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 112
    Names
    zinc finger protein 112 (Y14)
    zinc finger protein 112 homolog
    zinc finger protein 228

    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_052954.1 RefSeqGene

      Range
      15536..45661
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001083335.2 → NP_001076804.1  zinc finger protein 112 isoform 1

      See identical proteins and their annotated locations for NP_001076804.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) differs in the 5' UTR and coding sequence compared to variant 3. The resulting isoform (1) is shorter at the N-terminus compared to isoform 3.
      Source sequence(s)
      AA449338, AC138473, DB288887
      Consensus CDS
      CCDS54276.1
      UniProtKB/Swiss-Prot
      A4FU53, Q9HCA7, Q9UJU3
      Related
      ENSP00000337081.3, ENST00000337401.8
      Conserved Domains (5) summary
      smart00349
      Location:8 → 68
      KRAB; krueppel associated box
      COG5048
      Location:384 → 756
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:555 → 575
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam01352
      Location:8 → 47
      KRAB; KRAB box
      pfam13465
      Location:651 → 675
      zf-H2C2_2; Zinc-finger double domain

    2. NM_001348281.2 → NP_001335210.1  zinc finger protein 112 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (3).
      Source sequence(s)
      AC138473, AC245748
      Conserved Domains (5) summary
      smart00349
      Location:25 → 85
      KRAB; krueppel associated box
      COG5048
      Location:401 → 773
      COG5048; FOG: Zn-finger [General function prediction only]
      COG5189
      Location:780 → 873
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
      sd00017
      Location:572 → 592
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:864 → 888
      zf-H2C2_2; Zinc-finger double domain

    3. NM_001348282.2 → NP_001335211.1  zinc finger protein 112 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4), as well as variants 2 and 5, encodes isoform 2.
      Source sequence(s)
      AC138473, AC245748
      Consensus CDS
      CCDS12637.1
      UniProtKB/Swiss-Prot
      Q9UJU3
      Conserved Domains (5) summary
      smart00349
      Location:2 → 62
      KRAB; krueppel associated box
      COG5048
      Location:378 → 750
      COG5048; FOG: Zn-finger [General function prediction only]
      COG5189
      Location:757 → 850
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
      sd00017
      Location:549 → 569
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:841 → 865
      zf-H2C2_2; Zinc-finger double domain

    4. NM_001348283.1 → NP_001335212.1  zinc finger protein 112 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5), as well as variants 2 and 4, encodes isoform 2.
      Source sequence(s)
      AC138473, AC245748
      Consensus CDS
      CCDS12637.1
      UniProtKB/Swiss-Prot
      Q9UJU3
      Conserved Domains (5) summary
      smart00349
      Location:2 → 62
      KRAB; krueppel associated box
      COG5048
      Location:378 → 750
      COG5048; FOG: Zn-finger [General function prediction only]
      COG5189
      Location:757 → 850
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
      sd00017
      Location:549 → 569
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:841 → 865
      zf-H2C2_2; Zinc-finger double domain

    5. NM_001348284.2 → NP_001335213.1  zinc finger protein 112 isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6), as well as variant 7, encodes isoform 4.
      Source sequence(s)
      AC138473, AC245748
      Conserved Domains (4) summary
      COG5048
      Location:317 → 689
      COG5048; FOG: Zn-finger [General function prediction only]
      COG5189
      Location:696 → 789
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
      sd00017
      Location:488 → 508
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:780 → 804
      zf-H2C2_2; Zinc-finger double domain

    6. NM_001348285.2 → NP_001335214.1  zinc finger protein 112 isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7), as well as variant 6, encodes isoform 4.
      Source sequence(s)
      AC138473, AC245748
      Conserved Domains (4) summary
      COG5048
      Location:317 → 689
      COG5048; FOG: Zn-finger [General function prediction only]
      COG5189
      Location:696 → 789
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
      sd00017
      Location:488 → 508
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:780 → 804
      zf-H2C2_2; Zinc-finger double domain

    7. NM_013380.4 → NP_037512.3  zinc finger protein 112 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 3. The resulting isoform (2) is shorter at the N-terminus compared to isoform 3. Variants 2, 4, and 5 all encode the same isoform (2).
      Source sequence(s)
      AA449338, AC138473, BC117223
      Consensus CDS
      CCDS12637.1
      UniProtKB/TrEMBL
      Q0VG01
      Related
      ENSP00000346305.3, ENST00000354340.9
      Conserved Domains (5) summary
      smart00349
      Location:2 → 62
      KRAB; krueppel associated box
      COG5048
      Location:378 → 750
      COG5048; FOG: Zn-finger [General function prediction only]
      COG5189
      Location:757 → 850
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
      sd00017
      Location:549 → 569
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:841 → 865
      zf-H2C2_2; Zinc-finger double domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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
      44326553..44367217 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      47149447..47190001 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UJU3.2 GenPept UniProtKB/Swiss-Prot:Q9UJU3

    Gene LinkOut

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

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