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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

HEBP2 Gene

protein-coding   GIFtS: 48
GCID: GC06P138724

heme binding protein 2

(Previous name: chromosome 6 open reading frame 34 )
(Previous symbol: C6orf34)
  Search for HEBP2
in
MalaCards
our new
 Human Malady Compendium 
Biological research products
for HEBP2    

Aliases
for HEBP2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Heme Binding Protein 21 2     Chromosome 6 Open Reading Frame 341
C6orf341 2 3 5     C6ORF34B2
SOUL1 2 3 5     Heme-Binding Protein 22
Placental Protein 232 3     Protein SOUL3
PP232 3     

External Ids:    HGNC: 157161   Entrez Gene: 235932   Ensembl: ENSG000000516207   OMIM: 6058255   UniProtKB: Q9Y5Z43   

Export aliases for HEBP2 gene to outside databases

Previous GC identifers: GC06P138348 GC06P138572 GC06P138705 GC06P138767 GC06P136286


Summaries
for HEBP2 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
UniProtKB/Swiss-Prot: HEBP2_HUMAN, Q9Y5Z4
Function: Can promote mitochondrial permeability transition and facilitate necrotic cell death under different types of
stress conditions. Does not bind hemin

Gene Wiki entry for HEBP2


Genomic Views
for HEBP2 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.1  NT_025741.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HEBP2 gene promoter:
         GR   Pax-5   Pax-2   Pax-2a   HEN1   CREB   IRF-2   SREBP-1a   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: HEBP2 promoter sequence
   Search SABiosciences Chromatin IP Primers for HEBP2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HEBP2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6q24   Ensembl cytogenetic band:  6q23.3   HGNC cytogenetic band: 6q24

HEBP2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HEBP2 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P138724:  view genomic region     (about GC identifiers)

Start:
 138,724,668 bp from pter      End:
 138,734,582 bp from pter
Size:
 9,915 bases      Orientation:
 plus strand

Proteins
for HEBP2 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: HEBP2_HUMAN, Q9Y5Z4 (See protein sequence)
Recommended Name: Heme-binding protein 2  
Size: 205 amino acids; 22875 Da
Subunit: Monomer. Interacts with LRPPRC. May interact with BCL2L1. An interaction with BCL2L1 was observed using a
peptide, but not with the full-length protein. The full-length protein would have to undergo a major conformation
change for the interaction to occur
Subcellular location: Cytoplasm. Mitochondrion. Note=Mainly localized to the cytoplasm with a much lower abundance in
the mitochondrion
Caution: Has been described as heme-binding protein in mouse, but His-42, a residue essential for heme binding in
mouse, is not conserved in all orthologs, or in the heme-binding family member HEBP1
5 PDB 3D structures from and Proteopedia for HEBP2:
3R85 (3D)        3R8J (3D)        3R8K (3D)        4AYZ (3D)        4B0Y (3D)    
Secondary accessions: Q96P57
Alternative splicing: 2 isoforms:  Q9Y5Z4-1   Q9Y5Z4-2   

Explore the universe of human proteins at neXtProt for HEBP2: NX_Q9Y5Z4

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9Y5Z4

    • HEBP2 Protein expression data from MOPED and PaxDb:    About this image 
    HEBP2 Protein Expression
    REFSEQ proteins: NP_055135.1  
    ENSEMBL proteins: 
     ENSP00000392101   ENSP00000058691   ENSP00000356670   ENSP00000395958  

    Human Recombinant Protein Products for HEBP2: 
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    Novus Biologicals HEBP2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for HEBP2

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA17098234
    GO:0005739mitochondrion IEA--

    HEBP2 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for HEBP2

    Protein Domains /
    Families
    for HEBP2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HEBP2 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR011256 Reg_factor_effector_bac
     IPR006917 SOUL_haem-bd

    Graphical View of Domain Structure for InterPro Entry Q9Y5Z4

    ProtoNet protein and cluster: Q9Y5Z4

    UniProtKB/Swiss-Prot: HEBP2_HUMAN, Q9Y5Z4
    Domain: Forms a distorted beta-barrel structure, with two helices that are packed against the outer surface of the
    barrel
    Similarity: Belongs to the HEBP family


    Function
    for HEBP2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Molecular Function:

         UniProtKB/Swiss-Prot Summary: HEBP2_HUMAN, Q9Y5Z4
    Function: Can promote mitochondrial permeability transition and facilitate necrotic cell death under different types of
    stress conditions. Does not bind hemin

    Phenotypes:
         1 GenomeRNAi human phenotype for HEBP2:

     Synthetic lethal with Ras 

    Animal Models:
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    miRNA
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    2 QIAGEN miScript miRNA Assays for microRNAs that regulate HEBP2:
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    SwitchGear 3'UTR luciferase reporter plasmid: HEBP2 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Pathways & Interactions
    for HEBP2 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for HEBP2

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    5 Interacting proteins for HEBP2 (Q9Y5Z43 ENSP000000586914) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    LRPPRCP427043, ENSP000002606654I2D: score=2 STRING: ENSP00000260665
    PDCD6O753403I2D: score=4 
    PPP2CAP677753I2D: score=1 
    AHRRENSP000003238164STRING: ENSP00000323816
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Drugs & Compounds
    for HEBP2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for HEBP2

    1 HMDB Compound for HEBP2    About this table
    CompoundSynonyms CAS #PubMed Ids
    Heme(protoporphyrinato)iron (see all 19)14875-96-8--
    Search CenterWatch for drugs/clinical trials and news about HEBP2 

    Transcripts
    for HEBP2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for HEBP2 gene: 
    NM_014320.2  

    Unigene Cluster for HEBP2:

    Heme binding protein 2
    Hs.486589  [show with all ESTs]
    Unigene Representative Sequence: BQ722079
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000448741 ENST00000058691(uc003qhw.1) ENST00000367697 ENST00000453452


    miRNA
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    2 QIAGEN miScript miRNA Assays for microRNAs that regulate HEBP2:
    hsa-miR-124 hsa-miR-506
    SwitchGear 3'UTR luciferase reporter plasmid: HEBP2 3' UTR sequence
    Inhib. RNA
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    Clone
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    Primer
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    Additional cDNA sequence: 

    AF117616.1 AF411610.1 AK057928.1 AY427823.1 BC008205.1 BC010290.1 BC016806.1 BC016807.1 
    BC093037.1 

    8 DOTS entries:

    DT.415396  DT.92438841  DT.75103339  DT.100026712  DT.100760142  DT.95277640  DT.121352738  DT.95277645 

    24/188 AceView cDNA sequences (see all 188):

    AI670119 CR602643 CR614177 BQ219093 BQ687191 BC010290 BM719976 BI962912 
    BQ962150 BE773509 AI799768 BM551520 BM977120 BQ058821 AA371862 BM785056 
    BM717995 BE773507 AA166702 CD673996 AF117616 AA503537 BM888523 BF974311 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for HEBP2    About this scheme

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


    ECgene alternative splicing isoforms for HEBP2

    Expression
    for HEBP2 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    HEBP2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ACCTATAAGT
    HEBP2 Expression
    About this image

    HEBP2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Definitive endoderm-like cells (A scalable, suspensi...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See HEBP2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HEBP2

    SOURCE GeneReport for Unigene cluster: Hs.486589

    UniProtKB/Swiss-Prot: HEBP2_HUMAN, Q9Y5Z4
    Tissue specificity: Detected in placenta

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    In Situ
    Assay Products:     
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    Orthologs
    for HEBP2 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for HEBP2 gene from 5/15 species (see all 15)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves HEBP21 heme binding protein 2 58.04(n)
    48.82(a)    		   424441  XM_422283.3  XP_422283.3 
    lizard
    (Anolis carolinensis)    		 Reptilia HEBP26
    		 --
    		 56(a)
    		 1 ↔ 1
    		 GL343200.1(1299746-1308508)
    zebrafish
    (Danio rerio)    		 Actinopterygii hebp21 heme binding protein 2 54.61(n)
    50.28(a)    		   393167  NM_200198.1  NP_956492.1 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT1G171001 SOUL heme-binding protein 48.17(n)
    46.45(a)    		   838280  NM_101570.3  NP_173153.1 
    rice
    (Oryza sativa)    		 Liliopsida Os01g02105001 hypothetical protein 46.48(n)
    38.33(a)    		   4325558  NM_001048903.1  NP_001042368.1 


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

    Paralogs
    for HEBP2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HEBP2 gene
    HEBP12  

    HEBP2 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for HEBP2
    PGOHUM00000240396


    Genomic Variants
    for HEBP2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/248 NCBI SNPs in HEBP2 are shown (see all 248)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 6 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1829190171,2
    		--138723495(+) TCTAAC/TTTGGG 1 -- us2k10--------
    rs69349071,2
    		C,F,A,H--138723498(+) AACTTG/AGGAGG 1 -- us2k111Minor allele frequency- A:0.06NS EA NA WA 1304
    rs1125651781,2
    		C--138723550(+) ATGGCCGATT   
      GGAG    /-    CGATT     		1 -- us2k11Minor allele frequency- -:0.50CSA 2
    rs735709641,2
    		C--138723705(+) TCACCC/TACCTG 1 -- us2k12Minor allele frequency- T:0.05WA 120
    rs37568901,2
    		C,F,A,H--138723769(+) GCCCCG/AAGGGA 1 -- us2k110Minor allele frequency- A:0.20NS EA WA CSA NA 780
    rs1878248271,2
    		--138723899(+) CCCTTA/GTCGCT 1 -- us2k10--------
    rs767912231,2
    		--138723945(+) CCATAG/TGTGAG 1 -- us2k12Minor allele frequency- T:0.13CSA WA 120
    rs48963531,2
    		C,F,A,H--138723962(+) GAAGAG/ATCACC 1 -- us2k123Minor allele frequency- A:0.23NS EA NA WA CSA 2691
    rs1483121601,2
    		--138723981(+) CTTCCC/TATTTC 1 -- us2k10--------
    rs1404554051,2
    		--138724132(+) ATCTCA/GGCTCA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for HEBP2 (138724668 - 138734582 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for HEBP2
         1 CNV: 8529

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    Disorders / Diseases
    for HEBP2 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    HEBP2 for disorders           About MalaCards

    HEBP2 for disorders           About GeneDecksing

    OMIM gene information: 605825    OMIM disorders: --


    Export disorders for HEBP2 gene to outside databases

    Publications
    for HEBP2 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for HEBP2 gene, integrated from 9 sources (see all 15):
    (articles sorted by number of sources associating them with HEBP2)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Induction of necrotic cell death and mitochondrial permeabilization by heme binding protein 2/SOUL. (PubMed id 17098234)1, 2, 3 Szigeti A.... Gallyas F. Jr. (2006)
    2. Discovery of a putative heme-binding protein family (SOUL/HBP) by two-tissue suppression subtractive hybridization and database searches. (PubMed id 10640688)1, 2, 3 Zylka M.J. and Reppert S.M. (1999)
    3. Structural changes in the BH3 domain of SOUL protein upon interaction with the anti-apoptotic protein Bcl-xL. (PubMed id 21639858)1, 2 Ambrosi E....Monaco H.L. (2011)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)
    6. Sequence analysis of LRPPRC and its SEC1 domain interaction partners suggests roles in cytoskeletal organization, vesicular trafficking, nucleocytosolic shuttling, and chromosome activity. (PubMed id 11827465)1, 2 Liu L. and McKeehan W.L. (2002)
    7. Isolation and characterization of five new soluble placental tissue proteins (PP22, PP23, PP24, PP25, PP26). (PubMed id 2018407)1, 2 Bohn H. and Winckler W. (1991)
    8. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    9. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    10. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)

    External Searches for HEBP2 gene

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    Genome Databases showing HEBP2 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 23593 HGNC: 15716 AceView: HEBP2 Ensembl:ENSG00000051620 euGenes: HUgn23593
    ECgene: HEBP2 H-InvDB: HEBP2

    Other Databases showing HEBP2 gene

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    Specialized Databases showing HEBP2 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
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    NameDescription
    PharmGKB entry for HEBP2 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
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