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    HIVEP2 HIVEP zinc finger 2 [ Homo sapiens (human) ]

    Gene ID: 3097, updated on 3-Nov-2024

    Summary

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    Official Symbol
    HIVEP2provided by HGNC
    Official Full Name
    HIVEP zinc finger 2provided by HGNC
    Primary source
    HGNC:HGNC:4921
    See related
    Ensembl:ENSG00000010818 MIM:143054; AllianceGenome:HGNC:4921
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SHN2; ZAS2; MBP-2; MIBP1; MRD43; ZNF40B; HIV-EP2
    Summary
    This gene encodes a member of a family of closely related, large, zinc finger-containing transcription factors. The encoded protein regulates transcription by binding to regulatory regions of various cellular and viral genes that maybe involved in growth, development and metastasis. The protein contains the ZAS domain comprised of two widely separated regions of zinc finger motifs, a stretch of highly acidic amino acids and a serine/threonine-rich sequence. [provided by RefSeq, Nov 2012]
    Expression
    Ubiquitous expression in brain (RPKM 14.4), ovary (RPKM 8.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See HIVEP2 in Genome Data Viewer
    Location:
    6q24.2
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (142751469..142946365, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (143943829..144138712, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (143072606..143266313, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 14737 Neighboring gene adhesion G protein-coupled receptor G6 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:142695388-142695989 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:142695947-142697146 Neighboring gene Sharpr-MPRA regulatory regions 3748 and 6738 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:142872203-142872704 Neighboring gene uncharacterized LOC153910 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:142898477-142899003 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:142968516-142969102 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:142969103-142969689 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:142970487-142971223 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:142992915-142994114 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25178 Neighboring gene MPRA-validated peak6174 silencer Neighboring gene Sharpr-MPRA regulatory region 15083 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25179 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25180 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25181 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:143167126-143167819 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25182 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25183 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25184 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:143206090-143207289 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25185 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:143233161-143234017 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25186 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25187 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25188 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17615 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17616 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17618 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17620 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17619 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17617 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17621 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17622 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25189 Neighboring gene HIVEP2 divergent transcript Neighboring gene long intergenic non-protein coding RNA 1277 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:143323875-143325074 Neighboring gene MPRA-validated peak6176 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25190

    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. Structure and expression of major histocompatibility complex-binding protein 2, a 275-kDa zinc finger protein that binds to an enhancer of major histocompatibility complex class I genes. van 't Veer LJ, et al. Proc Natl Acad Sci U S A, 1992 Oct 1. PMID 1409593, Free PMC Article
    2. Loss-of-function variants in HIVEP2 are a cause of intellectual disability. Srivastava S, et al. Eur J Hum Genet, 2016 Apr. PMID 26153216, Free PMC Article
    3. Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features. Steinfeld H, et al. Neurogenetics, 2016 Jul. PMID 27003583, Free PMC Article
    4. Expanding the phenotype of intellectual disability caused by HIVEP2 variants. Goldsmith H, et al. Am J Med Genet A, 2019 Sep. PMID 31207095
    5. Nuclear factor kappa B activation appears weaker in schizophrenia patients with high brain cytokines than in non-schizophrenic controls with high brain cytokines. Murphy CE, et al. J Neuroinflammation, 2020 Jul 17. PMID 32680547, Free PMC Article

    See all (46) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Nuclear factor kappa B activation appears weaker in schizophrenia patients with high brain cytokines than in non-schizophrenic controls with high brain cytokines.
      Title: Nuclear factor kappa B activation appears weaker in schizophrenia patients with high brain cytokines than in non-schizophrenic controls with high brain cytokines.
    2. We describe the phenotype and genotype of two additional patients with novel de novo pathogenic HIVEP2 variants, who have previously unreported features, including hyperphagia and Angelman-like features.
      Title: Expanding the phenotype of intellectual disability caused by HIVEP2 variants.
    3. HIVEP2-mediated transcriptional mechanisms are implicated in dopaminergic pathophysiology of substance use disorder.
      Title: Identification of HIVEP2 as a dopaminergic transcription factor related to substance use disorders in rats and humans.
    4. human miR-186, 210 and 222 directly regulate the human genes Dicer1, HRB and HIV-EP2, thus may be filling key roles during HIV-1 replication and miRNA biogenesis.
      Title: HIV-1 infection increases microRNAs that inhibit Dicer1, HRB and HIV-EP2, thereby reducing viral replication.
    5. Study provide further evidence that pathogenic variants in Human immunodeficiency virus type I enhancer binding protein 2 lead to intellectual disabilities and developmental delay.
      Title: Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features.
    6. HIVEP2 loss-of-function mutations were identified in intellectual disability patients.
      Title: Loss-of-function variants in HIVEP2 are a cause of intellectual disability.
    7. a 154-amino acid region of MIBP1 was necessary for its O-GlcNAc transferase binding and O-GlcNAcylation.
      Title: Genome-wide repression of NF-κB target genes by transcription factor MIBP1 and its modulation by O-linked β-N-acetylglucosamine (O-GlcNAc) transferase.
    8. The primary effect of MIBP1 (also known as HIVEP2) is the downregulation of the NF-kappaB pathway, and this effect is attenuated by O-GlcNAc signaling.
      Title: Genome-wide repression of NF-κB target genes by transcription factor MIBP1 and its modulation by O-linked β-N-acetylglucosamine (O-GlcNAc) transferase.
    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

    Associated conditions

    Description Tests
    Intellectual disability, autosomal dominant 43
    MedGen: C4310771 OMIM: 616977 GeneReviews: Not available
    		Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2018-04-25)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2018-04-25)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    A meta-analysis of genome-wide association studies for adiponectin levels in East Asians identifies a novel locus near WDR11-FGFR2.
    EBI GWAS Catalog
    Genome-Wide Association Study of Primary Dentition Pit-and-Fissure and Smooth Surface Caries.
    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables DNA-binding transcription factor 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 regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    transcription factor HIVEP2
    Names
    MHC binding protein-2
    Schnurri-2
    c-myc intron binding protein 1
    human immunodeficiency virus type I enhancer binding protein 2

    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_047004.1 RefSeqGene

      Range
      5026..198733
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_006734.4 → NP_006725.3  transcription factor HIVEP2

      See identical proteins and their annotated locations for NP_006725.3

      Status: REVIEWED

      Source sequence(s)
      AA041301, AA465317, AL023584, AW197846, CR936782, DA216380, X65644
      Consensus CDS
      CCDS43510.1
      UniProtKB/Swiss-Prot
      P31629, Q02646, Q5THT5, Q9NS05
      UniProtKB/TrEMBL
      Q38G99
      Related
      ENSP00000356575.2, ENST00000367603.8
      Conserved Domains (6) summary
      PTZ00449
      Location:2029 → 2255
      PTZ00449; 104 kDa microneme/rhoptry antigen; Provisional
      sd00017
      Location:191 → 211
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00019
      Location:1801 → 1821
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00020
      Location:1852 → 1886
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:1799 → 1821
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:204 → 228
      zf-H2C2_2; Zinc-finger double domain

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      142751469..142946365 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024446418.2 → XP_024302186.1  transcription factor HIVEP2 isoform X1

      UniProtKB/Swiss-Prot
      P31629, Q02646, Q5THT5, Q9NS05
      UniProtKB/TrEMBL
      Q38G99
      Related
      ENSP00000515552.1, ENST00000703918.1
      Conserved Domains (6) summary
      PTZ00449
      Location:2029 → 2255
      PTZ00449; 104 kDa microneme/rhoptry antigen; Provisional
      sd00017
      Location:191 → 211
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00019
      Location:1801 → 1821
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00020
      Location:1852 → 1886
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:1799 → 1821
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:204 → 228
      zf-H2C2_2; Zinc-finger double domain

    2. XM_047418711.1 → XP_047274667.1  transcription factor HIVEP2 isoform X1

      UniProtKB/Swiss-Prot
      P31629, Q02646, Q5THT5, Q9NS05

    3. XM_047418713.1 → XP_047274669.1  transcription factor HIVEP2 isoform X1

      UniProtKB/Swiss-Prot
      P31629, Q02646, Q5THT5, Q9NS05

    4. XM_047418712.1 → XP_047274668.1  transcription factor HIVEP2 isoform X1

      UniProtKB/Swiss-Prot
      P31629, Q02646, Q5THT5, Q9NS05

    5. XM_024446419.2 → XP_024302187.1  transcription factor HIVEP2 isoform X1

      UniProtKB/Swiss-Prot
      P31629, Q02646, Q5THT5, Q9NS05
      UniProtKB/TrEMBL
      Q38G99
      Related
      ENSP00000012134.2, ENST00000012134.7
      Conserved Domains (6) summary
      PTZ00449
      Location:2029 → 2255
      PTZ00449; 104 kDa microneme/rhoptry antigen; Provisional
      sd00017
      Location:191 → 211
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00019
      Location:1801 → 1821
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00020
      Location:1852 → 1886
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:1799 → 1821
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:204 → 228
      zf-H2C2_2; Zinc-finger double domain

    6. XM_024446417.2 → XP_024302185.1  transcription factor HIVEP2 isoform X1

      UniProtKB/Swiss-Prot
      P31629, Q02646, Q5THT5, Q9NS05
      UniProtKB/TrEMBL
      Q38G99
      Conserved Domains (6) summary
      PTZ00449
      Location:2029 → 2255
      PTZ00449; 104 kDa microneme/rhoptry antigen; Provisional
      sd00017
      Location:191 → 211
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00019
      Location:1801 → 1821
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00020
      Location:1852 → 1886
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:1799 → 1821
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:204 → 228
      zf-H2C2_2; Zinc-finger double domain

    7. XM_047418714.1 → XP_047274670.1  transcription factor HIVEP2 isoform X1

      UniProtKB/Swiss-Prot
      P31629, Q02646, Q5THT5, Q9NS05

    8. XM_047418709.1 → XP_047274665.1  transcription factor HIVEP2 isoform X1

      UniProtKB/Swiss-Prot
      P31629, Q02646, Q5THT5, Q9NS05

    9. XM_047418710.1 → XP_047274666.1  transcription factor HIVEP2 isoform X1

      UniProtKB/Swiss-Prot
      P31629, Q02646, Q5THT5, Q9NS05

    10. XM_047418708.1 → XP_047274664.1  transcription factor HIVEP2 isoform X1

      UniProtKB/Swiss-Prot
      P31629, Q02646, Q5THT5, Q9NS05

    11. XM_047418715.1 → XP_047274671.1  transcription factor HIVEP2 isoform X1

      UniProtKB/Swiss-Prot
      P31629, Q02646, Q5THT5, Q9NS05

    12. XM_047418716.1 → XP_047274672.1  transcription factor HIVEP2 isoform X1

      UniProtKB/Swiss-Prot
      P31629, Q02646, Q5THT5, Q9NS05

    13. XM_047418707.1 → XP_047274663.1  transcription factor HIVEP2 isoform X1

      UniProtKB/Swiss-Prot
      P31629, Q02646, Q5THT5, Q9NS05

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      143943829..144138712 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054355281.1 → XP_054211256.1  transcription factor HIVEP2 isoform X1

    2. XM_054355285.1 → XP_054211260.1  transcription factor HIVEP2 isoform X1

    3. XM_054355288.1 → XP_054211263.1  transcription factor HIVEP2 isoform X1

    4. XM_054355286.1 → XP_054211261.1  transcription factor HIVEP2 isoform X1

    5. XM_054355289.1 → XP_054211264.1  transcription factor HIVEP2 isoform X1

    6. XM_054355292.1 → XP_054211267.1  transcription factor HIVEP2 isoform X1

    7. XM_054355290.1 → XP_054211265.1  transcription factor HIVEP2 isoform X1

    8. XM_054355284.1 → XP_054211259.1  transcription factor HIVEP2 isoform X1

    9. XM_054355282.1 → XP_054211257.1  transcription factor HIVEP2 isoform X1

    10. XM_054355283.1 → XP_054211258.1  transcription factor HIVEP2 isoform X1

    11. XM_054355291.1 → XP_054211266.1  transcription factor HIVEP2 isoform X1

    12. XM_054355287.1 → XP_054211262.1  transcription factor HIVEP2 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P31629.2 GenPept UniProtKB/Swiss-Prot:P31629

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