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

    Gene ID: 23119, updated on 17-Jun-2019

    Summary

    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
    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
    Expression
    Broad expression in placenta (RPKM 3.4), testis (RPKM 2.9) and 25 other tissues See more
    Orthologs

    Genomic context

    See HIC2 in Genome Data Viewer
    Location:
    22q11.21
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (21417371..21451463)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (21771693..21805752)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene RIMS binding protein 3B Neighboring gene RN7SK pseudogene 63 Neighboring gene uncharacterized LOC105377191 Neighboring gene transmembrane protein 191C Neighboring gene phosphatidylinositol 4-kinase alpha pseudogene 2

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus.
    NHGRI GWA Catalog
    Genome-wide association study of hematological and biochemical traits in a Japanese population.
    NHGRI GWA Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • KIAA1020

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    DNA binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
     
    DNA-binding transcription factor activity, RNA polymerase II-specific NAS
    Non-traceable Author Statement
    more info
    PubMed 
    DNA-binding transcription repressor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    RNA polymerase II regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein C-terminus binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    negative regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of transcription, DNA-templated NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    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)

    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_015094.3NP_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
      Q96JB3
      Related
      ENSP00000385319.2, ENST00000407464.7
      Conserved Domains (7) summary
      smart00225
      Location:47141
      BTB; Broad-Complex, Tramtrack and Bric a brac
      COG5048
      Location:559613
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:535555
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:533555
      zf-C2H2; Zinc finger, C2H2 type
      pfam00651
      Location:40140
      BTB; BTB/POZ domain
      pfam13465
      Location:576600
      zf-H2C2_2; Zinc-finger double domain
      pfam15724
      Location:300395
      TMEM119; TMEM119 family

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

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

    mRNA and Protein(s)

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

      UniProtKB/Swiss-Prot
      Q96JB3
    2. XM_011530008.3XP_011528310.1  hypermethylated in cancer 2 protein isoform X1

      See identical proteins and their annotated locations for XP_011528310.1

      UniProtKB/Swiss-Prot
      Q96JB3
      Conserved Domains (7) summary
      smart00225
      Location:47141
      BTB; Broad-Complex, Tramtrack and Bric a brac
      COG5048
      Location:559613
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:535555
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:533555
      zf-C2H2; Zinc finger, C2H2 type
      pfam00651
      Location:40140
      BTB; BTB/POZ domain
      pfam13465
      Location:576600
      zf-H2C2_2; Zinc-finger double domain
      pfam15724
      Location:300395
      TMEM119; TMEM119 family
    3. XM_011530010.3XP_011528312.1  hypermethylated in cancer 2 protein isoform X1

      See identical proteins and their annotated locations for XP_011528312.1

      UniProtKB/Swiss-Prot
      Q96JB3
      Related
      ENSP00000384889.2, ENST00000407598.2
      Conserved Domains (7) summary
      smart00225
      Location:47141
      BTB; Broad-Complex, Tramtrack and Bric a brac
      COG5048
      Location:559613
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:535555
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:533555
      zf-C2H2; Zinc finger, C2H2 type
      pfam00651
      Location:40140
      BTB; BTB/POZ domain
      pfam13465
      Location:576600
      zf-H2C2_2; Zinc-finger double domain
      pfam15724
      Location:300395
      TMEM119; TMEM119 family
    4. XM_011530007.2XP_011528309.1  hypermethylated in cancer 2 protein isoform X1

      See identical proteins and their annotated locations for XP_011528309.1

      UniProtKB/Swiss-Prot
      Q96JB3
      Conserved Domains (7) summary
      smart00225
      Location:47141
      BTB; Broad-Complex, Tramtrack and Bric a brac
      COG5048
      Location:559613
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:535555
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:533555
      zf-C2H2; Zinc finger, C2H2 type
      pfam00651
      Location:40140
      BTB; BTB/POZ domain
      pfam13465
      Location:576600
      zf-H2C2_2; Zinc-finger double domain
      pfam15724
      Location:300395
      TMEM119; TMEM119 family
    5. XM_011530009.2XP_011528311.1  hypermethylated in cancer 2 protein isoform X1

      See identical proteins and their annotated locations for XP_011528311.1

      UniProtKB/Swiss-Prot
      Q96JB3
      Conserved Domains (7) summary
      smart00225
      Location:47141
      BTB; Broad-Complex, Tramtrack and Bric a brac
      COG5048
      Location:559613
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:535555
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:533555
      zf-C2H2; Zinc finger, C2H2 type
      pfam00651
      Location:40140
      BTB; BTB/POZ domain
      pfam13465
      Location:576600
      zf-H2C2_2; Zinc-finger double domain
      pfam15724
      Location:300395
      TMEM119; TMEM119 family
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