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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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See ZNF112 in Genome Data Viewer
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

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. 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

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