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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
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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 (47) 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
not available

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 Variation Viewer (GRCh37.p13)

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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