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Aliases for HEBP2 Gene

Aliases for HEBP2 Gene

  • Heme Binding Protein 2 2 3 5
  • Placental Protein 23 3 4
  • C6orf34 3 4
  • PP23 3 4
  • SOUL 3 4
  • Chromosome 6 Open Reading Frame 34 2
  • Heme-Binding Protein 2 3
  • Protein SOUL 4
  • C6ORF34B 3

External Ids for HEBP2 Gene

Previous HGNC Symbols for HEBP2 Gene

  • C6orf34

Previous GeneCards Identifiers for HEBP2 Gene

  • GC06P138348
  • GC06P138572
  • GC06P138705
  • GC06P138767
  • GC06P136286
  • GC06P138724

Summaries for HEBP2 Gene

Entrez Gene Summary for HEBP2 Gene

  • The protein encoded by this gene is found predominately in the cytoplasm, where it plays a role in the collapse of mitochondrial membrane potential (MMP) prior to necrotic cell death. The encoded protein enhances outer and inner mitochondrial membrane permeabilization, especially under conditions of oxidative stress. [provided by RefSeq, May 2016]

GeneCards Summary for HEBP2 Gene

HEBP2 (Heme Binding Protein 2) is a Protein Coding gene. Among its related pathways are Innate Immune System. An important paralog of this gene is HEBP1.

UniProtKB/Swiss-Prot for HEBP2 Gene

  • Can promote mitochondrial permeability transition and facilitate necrotic cell death under different types of stress conditions.

Gene Wiki entry for HEBP2 Gene

Additional gene information for HEBP2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HEBP2 Gene

Genomics for HEBP2 Gene

Regulatory Elements for HEBP2 Gene

Enhancers for HEBP2 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
GH06H138403 1.1 ENCODE 48.6 +1.3 1336 3 PKNOX1 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 HEBP2 CITED2 MARCKSL1P2 PIR51373
GH06H138409 1.1 Ensembl ENCODE 18.3 +7.5 7481 2 INSM2 KLF17 BATF YY1 RCOR1 FOS ETV6 RUNX3 CREM IKZF2 HEBP2 PERP FLJ46906 NHSL1 PIR51373 MARCKSL1P2
GH06H138100 1.7 FANTOM5 ENCODE dbSUPER 5.3 -299.0 -298961 10 HDGF PKNOX1 FOXA2 ARID4B SIN3A FEZF1 ZNF2 YY1 SLC30A9 ZNF143 PERP HEBP2 ARFGEF3 LOC105378021
GH06H138535 1.8 FANTOM5 Ensembl ENCODE dbSUPER 4.7 +138.2 138194 12 PKNOX1 FOXA2 ATF1 MLX ARID4B DMAP1 YY1 ZNF121 SLC30A9 FOS NHSL1 FLJ46906 PERP HEBP2 PBOV1 ENSG00000274594 LOC100129577
GH06H137696 1.9 FANTOM5 Ensembl ENCODE dbSUPER 4.4 -705.1 -705097 3 PKNOX1 FOXA2 MLX ARID4B ZNF121 SP5 REST MIER2 PPARG KAT8 TNFAIP3 LOC100130476 PERP LOC442263 HEBP2 IFNGR1 ENSG00000283265
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HEBP2 on UCSC Golden Path with GeneCards custom track

Promoters for HEBP2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000203750 869 2001 PKNOX1 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 YY1 SLC30A9 ZNF766

Genomic Location for HEBP2 Gene

Chromosome:
6
Start:
138,403,531 bp from pter
End:
138,422,197 bp from pter
Size:
18,667 bases
Orientation:
Plus strand

Genomic View for HEBP2 Gene

Genes around HEBP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HEBP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HEBP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HEBP2 Gene

Proteins for HEBP2 Gene

  • Protein details for HEBP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y5Z4-HEBP2_HUMAN
    Recommended name:
    Heme-binding protein 2
    Protein Accession:
    Q9Y5Z4
    Secondary Accessions:
    • Q96P57

    Protein attributes for HEBP2 Gene

    Size:
    205 amino acids
    Molecular mass:
    22875 Da
    Quaternary structure:
    • Monomer. Interacts with LRPPRC (PubMed:11827465). May interact with BCL2L1; an interaction with BCL2L1 was observed using a peptide, but not with the full-length protein (PubMed:21639858). The full-length protein would have to undergo a major conformation change for the interaction to occur (PubMed:21639858). Interacts with PDCD6 (PubMed:27784779).

    Three dimensional structures from OCA and Proteopedia for HEBP2 Gene

    Alternative splice isoforms for HEBP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HEBP2 Gene

Post-translational modifications for HEBP2 Gene

  • Ubiquitination at isoforms=2172
  • Modification sites at PhosphoSitePlus

Other Protein References for HEBP2 Gene

No data available for DME Specific Peptides for HEBP2 Gene

Domains & Families for HEBP2 Gene

Gene Families for HEBP2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for HEBP2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for HEBP2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y5Z4

UniProtKB/Swiss-Prot:

HEBP2_HUMAN :
  • Forms a distorted beta-barrel structure, with two helices that are packed against the outer surface of the barrel.
  • Belongs to the HEBP family.
Domain:
  • Forms a distorted beta-barrel structure, with two helices that are packed against the outer surface of the barrel.
Family:
  • Belongs to the HEBP family.
genes like me logo Genes that share domains with HEBP2: view

Function for HEBP2 Gene

Molecular function for HEBP2 Gene

UniProtKB/Swiss-Prot Function:
Can promote mitochondrial permeability transition and facilitate necrotic cell death under different types of stress conditions.

Phenotypes From GWAS Catalog for HEBP2 Gene

Gene Ontology (GO) - Molecular Function for HEBP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with HEBP2: view
genes like me logo Genes that share phenotypes with HEBP2: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for HEBP2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HEBP2 Gene

Localization for HEBP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HEBP2 Gene

Cytoplasm. Mitochondrion. Note=Mainly localized to the cytoplasm with a much lower abundance in the mitochondrion. {ECO:0000269 PubMed:17098234}.

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 HEBP2 gene
Compartment Confidence
extracellular 5
mitochondrion 5
lysosome 4
cytosol 3
nucleus 2

Gene Ontology (GO) - Cellular Components for HEBP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005737 cytoplasm IDA,IEA 17098234
GO:0005739 mitochondrion IDA,IEA 17098234
GO:0035578 azurophil granule lumen TAS --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with HEBP2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for HEBP2 Gene

Pathways & Interactions for HEBP2 Gene

genes like me logo Genes that share pathways with HEBP2: view

Pathways by source for HEBP2 Gene

3 Reactome pathways for HEBP2 Gene

Interacting Proteins for HEBP2 Gene

Gene Ontology (GO) - Biological Process for HEBP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010917 negative regulation of mitochondrial membrane potential IMP 17098234
GO:0010940 positive regulation of necrotic cell death IMP 17098234
GO:0035794 positive regulation of mitochondrial membrane permeability IMP 17098234
GO:0043312 neutrophil degranulation TAS --
GO:1901031 NOT regulation of response to reactive oxygen species IMP 17098234
genes like me logo Genes that share ontologies with HEBP2: view

No data available for SIGNOR curated interactions for HEBP2 Gene

Drugs & Compounds for HEBP2 Gene

(1) Drugs for HEBP2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
heme Pharma Agonist 0
genes like me logo Genes that share compounds with HEBP2: view

Transcripts for HEBP2 Gene

Unigene Clusters for HEBP2 Gene

Heme binding protein 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for HEBP2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for HEBP2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c
SP1: -
SP2: -
SP3:

Relevant External Links for HEBP2 Gene

GeneLoc Exon Structure for
HEBP2
ECgene alternative splicing isoforms for
HEBP2

Expression for HEBP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HEBP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HEBP2 Gene

This gene is overexpressed in Adipose - Visceral (Omentum) (x4.1).

Protein differential expression in normal tissues from HIPED for HEBP2 Gene

This gene is overexpressed in Liver, secretome (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HEBP2 Gene



Protein tissue co-expression partners for HEBP2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HEBP2 Gene:

HEBP2

SOURCE GeneReport for Unigene cluster for HEBP2 Gene:

Hs.486589

mRNA Expression by UniProt/SwissProt for HEBP2 Gene:

Q9Y5Z4-HEBP2_HUMAN
Tissue specificity: Detected in placenta.

Evidence on tissue expression from TISSUES for HEBP2 Gene

  • Liver(4.5)
  • Eye(4.2)
  • Heart(2.6)
  • Muscle(2.5)
  • Stomach(2.2)
  • Kidney(2)
genes like me logo Genes that share expression patterns with HEBP2: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for HEBP2 Gene

Orthologs for HEBP2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for HEBP2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HEBP2 33 34
  • 99.51 (n)
cow
(Bos Taurus)
Mammalia HEBP2 33 34
  • 88.94 (n)
dog
(Canis familiaris)
Mammalia HEBP2 33 34
  • 87.33 (n)
mouse
(Mus musculus)
Mammalia Hebp2 33 16 34
  • 84.72 (n)
rat
(Rattus norvegicus)
Mammalia Hebp2 33
  • 84.07 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia HEBP2 34
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HEBP2 34
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves HEBP2 33 34
  • 58.04 (n)
lizard
(Anolis carolinensis)
Reptilia HEBP2 34
  • 57 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii hebp2 33 34
  • 54.61 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G17100 33
  • 48.6 (n)
rice
(Oryza sativa)
Liliopsida Os01g0210500 33
  • 46.2 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2043 34
  • 37 (a)
ManyToMany
-- 34
  • 33 (a)
ManyToMany
CSA.10114 34
  • 27 (a)
ManyToMany
Species where no ortholog for HEBP2 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)
  • fruit fly (Drosophila melanogaster)
  • 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 blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HEBP2 Gene

ENSEMBL:
Gene Tree for HEBP2 (if available)
TreeFam:
Gene Tree for HEBP2 (if available)

Paralogs for HEBP2 Gene

Paralogs for HEBP2 Gene

Pseudogenes.org Pseudogenes for HEBP2 Gene

genes like me logo Genes that share paralogs with HEBP2: view

Variants for HEBP2 Gene

Sequence variations from dbSNP and Humsavar for HEBP2 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs193920889 Uncertain significance 138,405,167(+) CCGAC(A/G)CTATG nc-transcript-variant, reference, missense
rs1000101098 -- 138,406,375(+) ATATA(A/G)GACAC intron-variant
rs1000138453 -- 138,415,358(+) TAGGT(A/G)GCACA nc-transcript-variant
rs1000475861 -- 138,414,195(+) AGTAC(C/G)CAGAA intron-variant
rs1000490871 -- 138,415,587(+) AACTA(A/G)GTGTG nc-transcript-variant

Structural Variations from Database of Genomic Variants (DGV) for HEBP2 Gene

Variant ID Type Subtype PubMed ID
esv2752090 CNV gain 17911159

Variation tolerance for HEBP2 Gene

Residual Variation Intolerance Score: 87.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.27; 25.43% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HEBP2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HEBP2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HEBP2 Gene

Disorders for HEBP2 Gene

Relevant External Links for HEBP2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HEBP2

No disorders were found for HEBP2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for HEBP2 Gene

Publications for HEBP2 Gene

  1. Induction of necrotic cell death and mitochondrial permeabilization by heme binding protein 2/SOUL. (PMID: 17098234) Szigeti A … Gallyas F (FEBS letters 2006) 2 3 4 60
  2. Discovery of a putative heme-binding protein family (SOUL/HBP) by two-tissue suppression subtractive hybridization and database searches. (PMID: 10640688) Zylka MJ … Reppert SM (Brain research. Molecular brain research 1999) 2 3 4 60
  3. Structural and Functional Study of Apoptosis-linked Gene-2·Heme-binding Protein 2 Interactions in HIV-1 Production. (PMID: 27784779) Ma J … Liu X (The Journal of biological chemistry 2016) 3 4 60
  4. Structural changes in the BH3 domain of SOUL protein upon interaction with the anti-apoptotic protein Bcl-xL. (PMID: 21639858) Ambrosi E … Monaco HL (The Biochemical journal 2011) 3 4 60
  5. 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 60

Products for HEBP2 Gene

Sources for HEBP2 Gene

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