Aliases for HIC2 Gene

Aliases for HIC2 Gene

  • HIC ZBTB Transcriptional Repressor 2 2 3 5
  • ZBTB30 2 3 4
  • HRG22 2 3 4
  • Zinc Finger And BTB Domain-Containing Protein 30 3 4
  • HIC1-Related Gene On Chromosome 22 Protein 3 4
  • Hypermethylated In Cancer 2 Protein 3 4
  • KIAA1020 2 4
  • ZNF907 2 3
  • Hic-2 3 4
  • Hic-3 3 4
  • Hypermethylated In Cancer 2 2
  • HIC2 5

External Ids for HIC2 Gene

Previous GeneCards Identifiers for HIC2 Gene

  • GC22P018470
  • GC22P020096
  • GC22P021771
  • GC22P004831
  • GC22P021452
  • GC22P021494
  • GC22P022100
  • GC22P022142
  • GC22P022180
  • GC22P023724
  • GC22P021536
  • GC22P021836
  • GC22P021866
  • GC22P021895
  • GC22P021939
  • GC22P021969
  • GC22P022010
  • GC22P022057
  • GC22P024209

Summaries for HIC2 Gene

GeneCards Summary for HIC2 Gene

HIC2 (HIC ZBTB Transcriptional Repressor 2) is a Protein Coding gene. Diseases associated with HIC2 include Orofaciodigital Syndrome X and Simpson-Golabi-Behmel Syndrome, Type 1. Gene Ontology (GO) annotations related to this gene include protein C-terminus binding. An important paralog of this gene is HIC1.

UniProtKB/Swiss-Prot Summary for HIC2 Gene

Gene Wiki entry for HIC2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HIC2 Gene

Genomics for HIC2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for HIC2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH22J021416 Promoter 1.5 EPDnew Ensembl CraniofacialAtlas 250.7 +2.0 2030 6.8 SIN3B RUNX1 NKRF HDAC2 NRF1 EGR1 ESRRA HDAC1 MLLT1 HLF HIC2 LOC105377191 TMEM191C
GH22J021433 Promoter 0.3 EPDnew 250.4 +16.1 16132 0.1 HIC2 piR-57460-436 piR-50575 TMEM191C
GH22J021814 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 5.5 +399.9 399904 6.1 BCL11A TRIM22 GABPA EBF1 FOSL1 NFE2 PTBP1 IRF9 BATF CUX1 lnc-PPIL2-7 piR-48759-194 PPM1F-AS1 LZTR1 PPM1F ENSG00000272779 IGLV5-52 ENSG00000234630 PPIL2 YPEL1
GH22J022036 Enhancer 1 Ensembl ENCODE 5.4 +620.0 619972 2.7 IKZF1 MCM7 ZIC2 ARNT TAL1 EBF1 ZBTB5 RELA MAX NFE2 ENSG00000278657 ENSG00000249333 IGLV10-54 NONHSAG033393.2 RF00952-003 HIC2 IGLVI-70 lnc-TOP3B-1 PRAMENP IGLV4-69
GH22J021864 Promoter/Enhancer 2.1 EPDnew FANTOM5 ENCODE CraniofacialAtlas dbSUPER 2.3 +449.8 449753 4.3 ZSCAN16 ZBTB10 SP1 MXD4 FEZF1 POLR2A CTCF ZBTB7B ZEB1 HOMEZ MAPK1 HSALNG0134260 lnc-PPIL2-8 PPM1F-AS1 TOP3BP1 IGLV5-52 SDF2L1 HIC2 piR-54764-412 YPEL1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HIC2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HIC2

Top Transcription factor binding sites by QIAGEN in the HIC2 gene promoter:
  • AhR
  • AP-1
  • Arnt
  • c-Fos
  • c-Jun
  • HNF-4alpha1
  • HNF-4alpha2
  • Lmo2
  • POU2F1
  • POU2F1a

Genomic Locations for HIC2 Gene

Latest Assembly
chr22:21,417,371-21,451,463
(GRCh38/hg38)
Size:
34,093 bases
Orientation:
Plus strand

Previous Assembly
chr22:21,771,660-21,805,752
(GRCh37/hg19 by Entrez Gene)
Size:
34,093 bases
Orientation:
Plus strand

chr22:21,771,693-21,805,752
(GRCh37/hg19 by Ensembl)
Size:
34,060 bases
Orientation:
Plus strand

Genomic View for HIC2 Gene

Genes around HIC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HIC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HIC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HIC2 Gene

Proteins for HIC2 Gene

  • Protein details for HIC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96JB3-HIC2_HUMAN
    Recommended name:
    Hypermethylated in cancer 2 protein
    Protein Accession:
    Q96JB3
    Secondary Accessions:
    • Q504T6
    • Q96KR3
    • Q9NSM9
    • Q9UPX9

    Protein attributes for HIC2 Gene

    Size:
    615 amino acids
    Molecular mass:
    66156 Da
    Quaternary structure:
    • Self-associates. Interacts with HIC1.
    SequenceCaution:
    • Sequence=BAA82972.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for HIC2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HIC2 Gene

Post-translational modifications for HIC2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for HIC2 Gene

Domains & Families for HIC2 Gene

Gene Families for HIC2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for HIC2 Gene

InterPro:
Blocks:
  • BTB/POZ domain
ProtoNet:

Suggested Antigen Peptide Sequences for HIC2 Gene

GenScript: Design optimal peptide antigens:
  • Zinc finger and BTB domain-containing protein 30 (HIC2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96JB3

UniProtKB/Swiss-Prot:

HIC2_HUMAN :
  • Belongs to the krueppel C2H2-type zinc-finger protein family. Hic subfamily.
Family:
  • Belongs to the krueppel C2H2-type zinc-finger protein family. Hic subfamily.
genes like me logo Genes that share domains with HIC2: view

Function for HIC2 Gene

Molecular function for HIC2 Gene

UniProtKB/Swiss-Prot Function:
Transcriptional repressor.

Phenotypes From GWAS Catalog for HIC2 Gene

Gene Ontology (GO) - Molecular Function for HIC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IBA 21873635
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific IBA 21873635
GO:0003677 DNA binding NAS 11554746
GO:0005515 protein binding IPI 32296183
GO:0008022 protein C-terminus binding IPI 12052894
genes like me logo Genes that share ontologies with HIC2: view
genes like me logo Genes that share phenotypes with HIC2: view

miRNA for HIC2 Gene

miRTarBase miRNAs that target HIC2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HIC2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HIC2 Gene

Localization for HIC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HIC2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HIC2 gene
Compartment Confidence
nucleus 5
plasma membrane 2
cytosol 2
extracellular 1
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for HIC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 11554746
GO:0005654 nucleoplasm IBA,IDA --
genes like me logo Genes that share ontologies with HIC2: view

Pathways & Interactions for HIC2 Gene

PathCards logo

SuperPathways for HIC2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for HIC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IEA --
GO:0006357 regulation of transcription by RNA polymerase II IBA 21873635
GO:0045892 negative regulation of transcription, DNA-templated NAS 11554746
genes like me logo Genes that share ontologies with HIC2: view

No data available for Pathways by source and SIGNOR curated interactions for HIC2 Gene

Drugs & Compounds for HIC2 Gene

No Compound Related Data Available

Transcripts for HIC2 Gene

mRNA/cDNA for HIC2 Gene

1 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HIC2

Alternative Splicing Database (ASD) splice patterns (SP) for HIC2 Gene

No ASD Table

Relevant External Links for HIC2 Gene

GeneLoc Exon Structure for
HIC2

Expression for HIC2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HIC2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for HIC2 Gene

This gene is overexpressed in Prostate (62.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HIC2 Gene



Protein tissue co-expression partners for HIC2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HIC2

SOURCE GeneReport for Unigene cluster for HIC2 Gene:

Hs.632767

mRNA Expression by UniProt/SwissProt for HIC2 Gene:

Q96JB3-HIC2_HUMAN
Tissue specificity: Highest levels in cerebellum.

Evidence on tissue expression from TISSUES for HIC2 Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with HIC2: view

Primer products for research

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for HIC2 Gene

Orthologs for HIC2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for HIC2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia HIC2 30 31
  • 99.24 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia HIC2 30 31
  • 89.89 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Hic2 30
  • 85.72 (n)
Cow
(Bos Taurus)
Mammalia HIC2 30 31
  • 85.36 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Hic2 30 17 31
  • 85.12 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia HIC2 31
  • 72 (a)
OneToOne
Chicken
(Gallus gallus)
Aves HIC2 30 31
  • 70.22 (n)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia hic2 30
  • 67.41 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.14683 30
Zebrafish
(Danio rerio)
Actinopterygii hic1l 31
  • 49 (a)
OneToOne
hic2 30
Species where no ortholog for HIC2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for HIC2 Gene

ENSEMBL:
Gene Tree for HIC2 (if available)
TreeFam:
Gene Tree for HIC2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HIC2: view image

Paralogs for HIC2 Gene

(14) SIMAP similar genes for HIC2 Gene using alignment to 1 proteins:

  • HIC2_HUMAN
genes like me logo Genes that share paralogs with HIC2: view

Variants for HIC2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HIC2 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
rs1568944577 Uncertain Significance: not provided 21,446,139(+) A/AG
NM_015094.3(HIC2):c.1250dup (p.Ser418fs)
FRAMESHIFT
rs74911162 Benign: not provided 21,445,840(+) C/T
NM_015094.3(HIC2):c.945C>T (p.His315=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for HIC2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for HIC2 Gene

Variant ID Type Subtype PubMed ID
dgv4486n100 CNV gain 25217958
dgv4487n100 CNV gain 25217958
dgv4488n100 CNV gain 25217958
dgv4489n100 CNV gain 25217958
dgv4490n100 CNV gain 25217958
dgv7996n54 CNV gain 21841781
esv2660656 CNV deletion 23128226
esv2661723 CNV deletion 23128226
esv2760719 CNV gain 21179565
esv2763699 CNV gain+loss 21179565
esv28075 CNV gain+loss 19812545
esv3584494 CNV gain 24956385
esv3893444 CNV gain 25118596
nsv1066391 CNV gain 25217958
nsv1072201 CNV deletion 25765185
nsv1118946 CNV deletion 24896259
nsv1160729 CNV duplication 26073780
nsv1160730 CNV deletion 26073780
nsv428386 CNV loss 18775914
nsv436864 CNV insertion 17901297
nsv437849 CNV loss 16327808
nsv442791 CNV gain 18776908
nsv469545 CNV gain 16826518
nsv471490 CNV gain 19718026
nsv471596 CNV gain+loss 15918152
nsv511071 OTHER inversion 20534489
nsv588320 CNV gain 21841781
nsv588321 CNV loss 21841781
nsv7350 OTHER inversion 18451855
nsv828963 CNV loss 20364138
nsv828965 CNV gain 20364138
nsv834145 CNV loss 17160897
nsv953042 CNV deletion 24416366
nsv962766 CNV duplication 23825009

Variation tolerance for HIC2 Gene

Residual Variation Intolerance Score: 17.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.95; 49.24% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HIC2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HIC2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HIC2 Gene

Disorders for HIC2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for HIC2 Gene - From: COP and GCD

- elite association - COSMIC cancer census association via MalaCards
Search HIC2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for HIC2

Genetic Association Database
(GAD)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with HIC2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HIC2 Gene

Publications for HIC2 Gene

  1. Characterization of HRG22, a human homologue of the putative tumor suppressor gene HIC1. (PMID: 11554746) Deltour S … Leprince D (Biochemical and biophysical research communications 2001) 2 3 4 23
  2. Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus. (PMID: 19838193) Han JW … Zhang XJ (Nature genetics 2009) 3 41
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins JE … Dunham I (Genome biology 2004) 3 4
  5. Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PMID: 12168954) Nakajima D … Nagase T (DNA research : an international journal for rapid publication of reports on genes and genomes 2002) 3 4

Products for HIC2 Gene

Sources for HIC2 Gene