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    HIC2 HIC ZBTB transcriptional repressor 2 [ Homo sapiens (human) ]

    Gene ID: 23119, updated on 28-Oct-2024

    Summary

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    Official Symbol
    HIC2provided by HGNC
    Official Full Name
    HIC ZBTB transcriptional repressor 2provided by HGNC
    Primary source
    HGNC:HGNC:18595
    See related
    Ensembl:ENSG00000169635 MIM:607712; AllianceGenome:HGNC:18595
    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
    HRG22; ZBTB30; ZNF907
    Summary
    Predicted to enable DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in negative regulation of transcription by RNA polymerase II; regulation of cytokine production; and regulation of immune system process. Located in nucleoplasm and plasma membrane. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Broad expression in placenta (RPKM 3.4), testis (RPKM 2.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See HIC2 in Genome Data Viewer
    Location:
    22q11.21
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (21417371..21451463)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (21896880..21930996, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (21771660..21805752)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene small Cajal body-specific RNA 17 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:21756985-21757487 Neighboring gene uncharacterized LOC124905164 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:21775892-21776710 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:21777861-21778422 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:21791131-21791666 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:21791667-21792203 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:21803655-21804208 Neighboring gene transmembrane protein 191A pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:21822768-21823330 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:21823331-21823893 Neighboring gene transmembrane protein 191C

    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 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. let-7 miRNAs repress HIC2 to regulate BCL11A transcription and hemoglobin switching. Huang P, et al. Blood, 2024 May 9. PMID 38364109,
    2. Hypermethylation of HIC2 is a potential prognostic biomarker and tumor suppressor of glioma based on bioinformatics analysis and experiments. Luo F, et al. CNS Neurosci Ther, 2023 Apr. PMID 36650953, Free PMC Article
    3. HIC2 controls developmental hemoglobin switching by repressing BCL11A transcription. Huang P, et al. Nat Genet, 2022 Sep. PMID 35941187, Free PMC Article
    4. HIC2, a new transcription activator of SIRT1. Song JY, et al. FEBS Lett, 2019 Jul. PMID 31127867
    5. Characterization of HRG22, a human homologue of the putative tumor suppressor gene HIC1. Deltour S, et al. Biochem Biophys Res Commun, 2001 Sep 21. PMID 11554746

    See all (49) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. let-7 miRNAs repress HIC2 to regulate BCL11A transcription and hemoglobin switching.
      Title: let-7 miRNAs repress HIC2 to regulate BCL11A transcription and hemoglobin switching.
    2. Hypermethylation of HIC2 is a potential prognostic biomarker and tumor suppressor of glioma based on bioinformatics analysis and experiments.
      Title: Hypermethylation of HIC2 is a potential prognostic biomarker and tumor suppressor of glioma based on bioinformatics analysis and experiments.
    3. HIC2 controls developmental hemoglobin switching by repressing BCL11A transcription.
      Title: HIC2 controls developmental hemoglobin switching by repressing BCL11A transcription.
    4. HIC2 is a pivotal transcriptional activator of SIRT1
      Title: HIC2, a new transcription activator of SIRT1.
    5. data suggest that HIC2 haploinsufficiency likely contributes to the cardiac defects seen in distal 22q11 deletion syndrome
      Title: HIC2 is a novel dosage-dependent regulator of cardiac development located within the distal 22q11 deletion syndrome region.
    6. HIC1 and HRG22 define a subgroup of BTB/POZ domains unable to recruit repressing complexes containing a histone deacetylase activity.
      Title: Characterization of HRG22, a human homologue of the putative tumor suppressor gene HIC1.
    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
    Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus.
    EBI GWAS Catalog
    Genome-wide association study of hematological and biochemical traits in a Japanese population.
    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA1020

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables DNA-binding transcription repressor 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
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in negative regulation of DNA-templated transcription NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of cytokine production IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of immune system process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in nucleoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    hypermethylated in cancer 2 protein
    Names
    HIC1-related gene on chromosome 22 protein
    hic-2
    hic-3
    zinc finger and BTB domain-containing protein 30

    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_015094.3 → NP_055909.2  hypermethylated in cancer 2 protein

      See identical proteins and their annotated locations for NP_055909.2

      Status: VALIDATED

      Source sequence(s)
      AP000552, AP000556, AP000557, BC094787, BM675330, CN373403
      Consensus CDS
      CCDS13789.1
      UniProtKB/Swiss-Prot
      Q504T6, Q96JB3, Q96KR3, Q9NSM9, Q9UPX9
      Related
      ENSP00000385319.2, ENST00000407464.7
      Conserved Domains (7) summary
      smart00225
      Location:47 → 141
      BTB; Broad-Complex, Tramtrack and Bric a brac
      COG5048
      Location:559 → 613
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:535 → 555
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:533 → 555
      zf-C2H2; Zinc finger, C2H2 type
      pfam00651
      Location:40 → 140
      BTB; BTB/POZ domain
      pfam13465
      Location:576 → 600
      zf-H2C2_2; Zinc-finger double domain
      pfam15724
      Location:300 → 395
      TMEM119; TMEM119 family

    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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      21417371..21451463
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017028669.3 → XP_016884158.1  hypermethylated in cancer 2 protein isoform X2

      UniProtKB/Swiss-Prot
      Q96JB3

    2. XM_011530008.4 → XP_011528310.1  hypermethylated in cancer 2 protein isoform X1

      See identical proteins and their annotated locations for XP_011528310.1

      UniProtKB/Swiss-Prot
      Q504T6, Q96JB3, Q96KR3, Q9NSM9, Q9UPX9
      Related
      ENSP00000384889.2, ENST00000407598.2
      Conserved Domains (7) summary
      smart00225
      Location:47 → 141
      BTB; Broad-Complex, Tramtrack and Bric a brac
      COG5048
      Location:559 → 613
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:535 → 555
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:533 → 555
      zf-C2H2; Zinc finger, C2H2 type
      pfam00651
      Location:40 → 140
      BTB; BTB/POZ domain
      pfam13465
      Location:576 → 600
      zf-H2C2_2; Zinc-finger double domain
      pfam15724
      Location:300 → 395
      TMEM119; TMEM119 family

    3. XM_011530009.2 → XP_011528311.1  hypermethylated in cancer 2 protein isoform X1

      See identical proteins and their annotated locations for XP_011528311.1

      UniProtKB/Swiss-Prot
      Q504T6, Q96JB3, Q96KR3, Q9NSM9, Q9UPX9
      Conserved Domains (7) summary
      smart00225
      Location:47 → 141
      BTB; Broad-Complex, Tramtrack and Bric a brac
      COG5048
      Location:559 → 613
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:535 → 555
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:533 → 555
      zf-C2H2; Zinc finger, C2H2 type
      pfam00651
      Location:40 → 140
      BTB; BTB/POZ domain
      pfam13465
      Location:576 → 600
      zf-H2C2_2; Zinc-finger double domain
      pfam15724
      Location:300 → 395
      TMEM119; TMEM119 family

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      21896880..21930996 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054325283.1 → XP_054181258.1  hypermethylated in cancer 2 protein isoform X2

    2. XM_054325281.1 → XP_054181256.1  hypermethylated in cancer 2 protein isoform X1

    3. XM_054325280.1 → XP_054181255.1  hypermethylated in cancer 2 protein isoform X1

    4. XM_054325279.1 → XP_054181254.1  hypermethylated in cancer 2 protein isoform X1

    5. XM_054325282.1 → XP_054181257.1  hypermethylated in cancer 2 protein isoform X1

    RNA

    1. XR_007090460.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96JB3.2 GenPept UniProtKB/Swiss-Prot:Q96JB3

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