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Aliases for HIVEP2 Gene

Aliases for HIVEP2 Gene

  • Human Immunodeficiency Virus Type I Enhancer Binding Protein 2 2 3 5
  • Human Immunodeficiency Virus Type I Enhancer-Binding Protein 2 2 4
  • C-Myc Intron Binding Protein 1 2 3
  • HIV-EP2 3 4
  • MBP-2 3 4
  • Transcription Factor HIVEP2 3
  • MHC Binding Protein-2 3
  • MHC-Binding Protein 2 4
  • Schnurri-2 3
  • ZNF40B 3
  • MIBP1 3
  • MRD43 3
  • SHN2 3
  • ZAS2 3

External Ids for HIVEP2 Gene

Previous GeneCards Identifiers for HIVEP2 Gene

  • GC06M142919
  • GC06M143053
  • GC06M143114
  • GC06M140638
  • GC06M143072

Summaries for HIVEP2 Gene

Entrez Gene Summary for HIVEP2 Gene

  • 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]

GeneCards Summary for HIVEP2 Gene

HIVEP2 (Human Immunodeficiency Virus Type I Enhancer Binding Protein 2) is a Protein Coding gene. Diseases associated with HIVEP2 include Hivep2-Related Intellectual Disability. An important paralog of this gene is HIVEP3.

UniProtKB/Swiss-Prot for HIVEP2 Gene

  • This protein specifically binds to the DNA sequence 5-GGGACTTTCC-3 which is found in the enhancer elements of numerous viral promoters such as those of SV40, CMV, or HIV1. In addition, related sequences are found in the enhancer elements of a number of cellular promoters, including those of the class I MHC, interleukin-2 receptor, somatostatin receptor II, and interferon-beta genes. It may act in T-cell activation.

Gene Wiki entry for HIVEP2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HIVEP2 Gene

Genomics for HIVEP2 Gene

Regulatory Elements for HIVEP2 Gene

Enhancers for HIVEP2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06G142901 1.9 FANTOM5 Ensembl ENCODE dbSUPER 28.8 +53.3 53269 3.5 ATF1 ZNF48 YY1 GATA2 FOS ZHX2 JUNB PPARG ZNF518A NFIL3 HIVEP2 ENSG00000232618 ENSG00000233138 LOC105369170 ENSG00000237851
GH06G142883 2 FANTOM5 Ensembl ENCODE dbSUPER 27.1 +70.5 70453 6.1 HDGF PKNOX1 FOXA2 WRNIP1 ZFP64 ARID4B SIN3A FEZF1 ZNF2 CBX5 HIVEP2 ENSG00000232618 LOC105369170 ENSG00000237851
GH06G142841 2 FANTOM5 Ensembl ENCODE dbSUPER 25.7 +106.5 106502 18.0 MLX CREB3L1 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 TBX21 MEF2D HIVEP2 ENSG00000232618 ENSG00000233138 ENSG00000237851 LOC105369170
GH06G142911 1.8 FANTOM5 Ensembl ENCODE dbSUPER 24.2 +42.7 42679 4.2 PKNOX1 CBX3 TBL1XR1 WRNIP1 ARID4B BMI1 RAD21 EGR1 CBX5 RELB HIVEP2 ENSG00000232618 ENSG00000233138 ENSG00000227192 LOC105369170 ENSG00000237851
GH06G142871 1.8 FANTOM5 Ensembl ENCODE dbSUPER 24.1 +84.4 84413 2.3 PKNOX1 ZNF133 GATA2 JUNB TBX21 ATF4 NBN STAT3 HNF4A BACH1 HIVEP2 ENSG00000232618 LOC105369170 ENSG00000237851
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HIVEP2 on UCSC Golden Path with GeneCards custom track

Genomic Location for HIVEP2 Gene

Chromosome:
6
Start:
142,751,467 bp from pter
End:
142,956,698 bp from pter
Size:
205,232 bases
Orientation:
Minus strand

Genomic View for HIVEP2 Gene

Genes around HIVEP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HIVEP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HIVEP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HIVEP2 Gene

Proteins for HIVEP2 Gene

  • Protein details for HIVEP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P31629-ZEP2_HUMAN
    Recommended name:
    Transcription factor HIVEP2
    Protein Accession:
    P31629
    Secondary Accessions:
    • Q02646
    • Q5THT5
    • Q9NS05

    Protein attributes for HIVEP2 Gene

    Size:
    2446 amino acids
    Molecular mass:
    269053 Da
    Quaternary structure:
    • Interacts with TCF4.
    SequenceCaution:
    • Sequence=AAB88218.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAA46596.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for HIVEP2 Gene

Post-translational modifications for HIVEP2 Gene

  • Ubiquitination at isoforms=2092
  • Modification sites at PhosphoSitePlus

Other Protein References for HIVEP2 Gene

No data available for DME Specific Peptides for HIVEP2 Gene

Domains & Families for HIVEP2 Gene

Gene Families for HIVEP2 Gene

Protein Domains for HIVEP2 Gene

Suggested Antigen Peptide Sequences for HIVEP2 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with HIVEP2: view

No data available for UniProtKB/Swiss-Prot for HIVEP2 Gene

Function for HIVEP2 Gene

Molecular function for HIVEP2 Gene

GENATLAS Biochemistry:
human immunodeficiency virus type 1, enhancer binding protein
UniProtKB/Swiss-Prot Function:
This protein specifically binds to the DNA sequence 5-GGGACTTTCC-3 which is found in the enhancer elements of numerous viral promoters such as those of SV40, CMV, or HIV1. In addition, related sequences are found in the enhancer elements of a number of cellular promoters, including those of the class I MHC, interleukin-2 receptor, somatostatin receptor II, and interferon-beta genes. It may act in T-cell activation.
UniProtKB/Swiss-Prot Induction:
By mitogens and phorbol ester.

Gene Ontology (GO) - Molecular Function for HIVEP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding TAS 2022670
GO:0003700 transcription factor activity, sequence-specific DNA binding IBA --
GO:0043565 sequence-specific DNA binding IBA --
GO:0044212 transcription regulatory region DNA binding IBA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with HIVEP2: view
genes like me logo Genes that share phenotypes with HIVEP2: view

Animal Models for HIVEP2 Gene

MGI Knock Outs for HIVEP2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for HIVEP2 Gene

Localization for HIVEP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HIVEP2 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 HIVEP2 gene
Compartment Confidence
nucleus 5
extracellular 1

Gene Ontology (GO) - Cellular Components for HIVEP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IBA --
GO:0005654 nucleoplasm IDA --
genes like me logo Genes that share ontologies with HIVEP2: view

Pathways & Interactions for HIVEP2 Gene

SuperPathways for HIVEP2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for HIVEP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IBA,IEA --
GO:0006366 transcription from RNA polymerase II promoter IBA --
GO:0007165 signal transduction IBA --
GO:0007275 multicellular organism development IBA --
genes like me logo Genes that share ontologies with HIVEP2: view

No data available for Pathways by source and SIGNOR curated interactions for HIVEP2 Gene

Transcripts for HIVEP2 Gene

Unigene Clusters for HIVEP2 Gene

Human immunodeficiency virus type I enhancer binding protein 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for HIVEP2 Gene

No ASD Table

Relevant External Links for HIVEP2 Gene

GeneLoc Exon Structure for
HIVEP2
ECgene alternative splicing isoforms for
HIVEP2

Expression for HIVEP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HIVEP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for HIVEP2 Gene

This gene is overexpressed in Nasal epithelium (62.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for HIVEP2 Gene



Protein tissue co-expression partners for HIVEP2 Gene

NURSA nuclear receptor signaling pathways regulating expression of HIVEP2 Gene:

HIVEP2

SOURCE GeneReport for Unigene cluster for HIVEP2 Gene:

Hs.510172

mRNA Expression by UniProt/SwissProt for HIVEP2 Gene:

P31629-ZEP2_HUMAN
Tissue specificity: Expressed in brain and skeletal muscle.

Evidence on tissue expression from TISSUES for HIVEP2 Gene

  • Nervous system(4.8)
genes like me logo Genes that share expression patterns with HIVEP2: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for HIVEP2 Gene

Orthologs for HIVEP2 Gene

This gene was present in the common ancestor of animals.

Orthologs for HIVEP2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HIVEP2 34 35
  • 99.63 (n)
dog
(Canis familiaris)
Mammalia HIVEP2 34 35
  • 90.75 (n)
cow
(Bos Taurus)
Mammalia HIVEP2 34 35
  • 87.9 (n)
mouse
(Mus musculus)
Mammalia Hivep2 34 16 35
  • 85.37 (n)
rat
(Rattus norvegicus)
Mammalia Hivep2 34
  • 85.32 (n)
oppossum
(Monodelphis domestica)
Mammalia HIVEP2 35
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HIVEP2 35
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves HIVEP2 34 35
  • 74.45 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 69 (a)
OneToMany
-- 35
  • 68 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia hivep2 34
  • 65.82 (n)
Str.13398 34
zebrafish
(Danio rerio)
Actinopterygii hivep2a 34 35
  • 56.73 (n)
HIVEP2 (1 of 2) 35
  • 41 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta shn 36 35
  • 41 (a)
worm
(Caenorhabditis elegans)
Secernentea sma-9 35
  • 12 (a)
OneToMany
Species where no ortholog for HIVEP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (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)

Evolution for HIVEP2 Gene

ENSEMBL:
Gene Tree for HIVEP2 (if available)
TreeFam:
Gene Tree for HIVEP2 (if available)

Paralogs for HIVEP2 Gene

Paralogs for HIVEP2 Gene

(9) SIMAP similar genes for HIVEP2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with HIVEP2: view

Variants for HIVEP2 Gene

Sequence variations from dbSNP and Humsavar for HIVEP2 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs761993070 Pathogenic 142,759,813(+) CTGTC(A/C/G/T)CATGG reference, missense
rs869312841 Pathogenic 142,771,912(-) GTCTG(C/T)GACTT reference, stop-gained
rs869312842 Pathogenic 142,771,834(-) CCAGC(C/T)AAGAA reference, stop-gained
rs869312843 Pathogenic 142,771,882(-) CAGGG(G/T)AGTCC reference, stop-gained
rs869312844 Pathogenic 142,761,469(-) TGAGG(-/G)AAGCA reference, frameshift-variant

Structural Variations from Database of Genomic Variants (DGV) for HIVEP2 Gene

Variant ID Type Subtype PubMed ID
dgv1021e201 CNV deletion 23290073
dgv1158e199 CNV deletion 23128226
dgv1227e214 CNV gain 21293372
dgv3407n106 CNV deletion 24896259
esv2130804 CNV deletion 18987734
esv2732809 CNV deletion 23290073
esv2732810 CNV deletion 23290073
esv2732811 CNV deletion 23290073
esv2732812 CNV deletion 23290073
esv2732814 CNV deletion 23290073
esv2732816 CNV deletion 23290073
esv3402921 CNV duplication 20981092
esv3540579 CNV deletion 23714750
esv3611084 CNV loss 21293372
esv3611085 CNV loss 21293372
esv5938 CNV gain 19470904
esv6993 CNV gain 19470904
nsv1019558 CNV loss 25217958
nsv1073592 CNV deletion 25765185
nsv1153921 CNV deletion 26484159
nsv520992 CNV loss 19592680
nsv819036 CNV loss 19587683
nsv830828 CNV gain 17160897
nsv830829 CNV loss 17160897
nsv949861 CNV duplication 24416366
nsv950515 CNV duplication 24416366
nsv958349 CNV deletion 24416366

Variation tolerance for HIVEP2 Gene

Residual Variation Intolerance Score: 1.36% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.48; 64.32% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HIVEP2 Gene

Human Gene Mutation Database (HGMD)
HIVEP2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HIVEP2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HIVEP2 Gene

Disorders for HIVEP2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for HIVEP2 Gene - From: ClinVar

Disorder Aliases PubMed IDs
hivep2-related intellectual disability
  • autosomal dominant intellectual disability-43
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ZEP2_HUMAN
  • Mental retardation, autosomal dominant 43 (MRD43) [MIM:616977]: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD43 patients manifest developmental delay, intellectual disability, hypotonia, and dysmorphic features. {ECO:0000269 PubMed:23020937, ECO:0000269 PubMed:26153216}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for HIVEP2

Genetic Association Database (GAD)
HIVEP2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HIVEP2
genes like me logo Genes that share disorders with HIVEP2: view

No data available for Genatlas for HIVEP2 Gene

Publications for HIVEP2 Gene

  1. HIV-EP2, a new member of the gene family encoding the human immunodeficiency virus type 1 enhancer-binding protein. Comparison with HIV-EP1/PRDII-BF1/MBP-1. (PMID: 2022670) Nomura N. … Ishii S. (J. Biol. Chem. 1991) 2 3 4 22 64
  2. Loss-of-function variants in HIVEP2 are a cause of intellectual disability. (PMID: 26153216) Srivastava S. … Naidu S. (Eur. J. Hum. Genet. 2016) 3 4 64
  3. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall A.J. … Beck S. (Nature 2003) 3 4 64
  4. Activation of somatostatin receptor II expression by transcription factors MIBP1 and SEF-2 in the murine brain. (PMID: 10207097) Doerflinger U. … Buettner R. (Mol. Cell. Biol. 1999) 3 4 64
  5. Mapping of the human gene for the human immunodeficiency virus type 1 enhancer binding protein HIV-EP2 to chromosome 6q23-q24. (PMID: 1733857) Sudo T. … Ishii S. (Genomics 1992) 2 3 64

Products for HIVEP2 Gene

Sources for HIVEP2 Gene

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