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

Gene ID: 23119, updated on 7-Apr-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
Enables protein C-terminus binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in placenta (RPKM 3.4), testis (RPKM 2.9) and 25 other tissues See more
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (21417371..21451463)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (21896880..21930996, complement)
105.20220307 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
  • 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. 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
  2. HIC2 controls developmental hemoglobin switching by repressing BCL11A transcription. Huang P, et al. Nat Genet, 2022 Sep. PMID 35941187, Free PMC Article
  3. HIC2, a new transcription activator of SIRT1. Song JY, et al. FEBS Lett, 2019 Jul. PMID 31127867
  4. 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
  5. The human candidate tumor suppressor gene HIC1 recruits CtBP through a degenerate GLDLSKK motif. Deltour S, et al. Mol Cell Biol, 2002 Jul. PMID 12052894, Free PMC Article

See all (46) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. HIC2 controls developmental hemoglobin switching by repressing BCL11A transcription.
    Title: HIC2 controls developmental hemoglobin switching by repressing BCL11A transcription.
  3. HIC2 is a pivotal transcriptional activator of SIRT1
    Title: HIC2, a new transcription activator of SIRT1.
  4. 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.
  5. 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_2023_10

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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