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HEATR4 Gene

protein-coding   GIFtS: 43
GCID: GC14M073946

HEAT Repeat Containing 4

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
HEAT Repeat Containing 41 2
HEAT Repeat-Containing Protein 42

External Ids:    HGNC: 167611   Entrez Gene: 3996712   Ensembl: ENSG000001871057   UniProtKB: Q86WZ03   

Export aliases for HEATR4 gene to outside databases

Previous GC identifers: GC14M073015 GC14M054111


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for HEATR4 Gene:
HEATR4 (HEAT repeat containing 4) is a protein-coding 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000014.8  NT_026437.13  NC_018925.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the HEATR4 gene promoter:
         GR   STAT5B   AML1a   Pax-5   FOXD1   Arnt   AREB6   HFH-1   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHEATR4 promoter sequence
   Search Chromatin IP Primers for HEATR4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HEATR4


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

Entrez Gene cytogenetic band: 14q24.3   Ensembl cytogenetic band:  14q24.3   HGNC cytogenetic band: 14q24.3

HEATR4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HEATR4 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M073946:  view genomic region     (about GC identifiers)

Start:
73,945,189 bp from pter      End:
74,025,651 bp from pter
Size:
80,463 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: HEAT4_HUMAN, Q86WZ0 (See protein sequence)
Recommended Name: HEAT repeat-containing protein 4  
Size: 1026 amino acids; 117175 Da
Sequence caution: Sequence=AAH47590.1; Type=Erroneous termination; Positions=39; Note=Translated as Glu;
Secondary accessions: B7Z7V9 E9KL41

Explore the universe of human proteins at neXtProt for HEATR4: NX_Q86WZ0

Explore proteomics data for HEATR4 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See HEATR4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001207413.1  NP_976054.2  

    ENSEMBL proteins: 
     ENSP00000450444   ENSP00000335447   ENSP00000452407   ENSP00000451367   ENSP00000456792  
     ENSP00000453597  

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    antibodies-online antibodies for HEATR4 (3 products) 

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    antibodies-online kits for HEATR4 (2 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR011989 ARM-like
     IPR000357 HEAT
     IPR016024 ARM-type_fold

    Graphical View of Domain Structure for InterPro Entry Q86WZ0

    ProtoNet protein and cluster: Q86WZ0

    1 Blocks protein domain: IPB000357 HEAT repeat

    UniProtKB/Swiss-Prot: HEAT4_HUMAN, Q86WZ0
    Similarity: Contains 3 HEAT repeats


    Find genes that share domains with HEATR4           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005488binding ----
    GO:0005515protein binding ----
         
    Find genes that share ontologies with HEATR4           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for HEATR4

    miRNA
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    1 qRT-PCR Assays for microRNA that regulate HEATR4:
    hsa-miR-340
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol1
    mitochondrion1
    nucleus1

    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for HEATR4
    Interactions:

        Search GeneGlobe Interaction Network for HEATR4

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for HEATR4 (Q86WZ03 ENSP000003354474) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ESR2Q927313, ENSP000003439254I2D: score=1 STRING: ENSP00000343925
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for HEATR4 (HEAT4)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for HEATR4 gene (2 alternative transcripts): 
    NM_001220484.1  NM_203309.2  

    Unigene Cluster for HEATR4:

    HEAT repeat containing 4
    Hs.660774  [show with all ESTs]
    Unigene Representative Sequence: NM_001220484
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000565094 ENST00000553558(uc010tub.1 uc021rwe.1) ENST00000334988(uc021rwf.1)
    ENST00000566478 ENST00000556455 ENST00000557603 ENST00000563329 ENST00000560393

    miRNA
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    hsa-miR-340
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    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat HEATR4

    Additional mRNA sequence: 

    AK093515.1 AK302564.1 BC047590.1 GU727638.1 

    6 DOTS entries:

    DT.100746813  DT.97834940  DT.408891  DT.120758251  DT.120758425  DT.75200026 

    21 AceView cDNA sequences:

    BF447872 BE674505 AA100496 NM_203309 BC047590 AL704027 AW341239 CD358661 
    AX748177 AK093515 AI796246 CD243990 AW291522 BQ376264 BG772808 AW449497 
    AW444473 BQ375952 BX375913 BF985317 BQ953182 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for HEATR4    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c · 6d · 6e ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^
    SP1:              -     -     -     -     -     -                                                                                                               
    SP2:              -     -     -           -                                                                                                                     
    SP3:              -     -     -           -     -                                                                                                               
    SP4:                          -     -           -                                                                                                               
    SP5:                                -     -     -                                                                                                               

    ExUns: 20 ^ 21
    SP1:            
    SP2:            
    SP3:            
    SP4:            
    SP5:            


    ECgene alternative splicing isoforms for HEATR4

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    HEATR4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    HEATR4 Expression
    About this image

    HEATR4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HEATR4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.660774
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    In Situ
    Assay Products:
     

     
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    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for HEATR4 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia LOC1010556701 HEAT repeat-containing protein 4-like 73.58(n)
    64.34(a)
      101055670  XM_006516452.1  XP_006516515.1 
    lizard
    (Anolis carolinensis)
    Reptilia HEATR46
    HEAT repeat containing 4
    41(a)
    1 ↔ 1
    1(39183550-39202164)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia heatr41 HEAT repeat containing 4 50.99(n)
    39.68(a)
      100495576  XM_002933720.2  XP_002933766.2 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC7962781 HEAT repeat-containing protein 4-like 52.64(n)
    43.23(a)
      796278  XM_001336557.5  XP_001336593.5 


    ENSEMBL Gene Tree for HEATR4 (if available)
    TreeFam Gene Tree for HEATR4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for HEATR4 (see all 1369)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1859941261,2
    --73944753(+) TCTCGA/GCTCAC 2 -- ds50010--------
    rs1449301931,2
    --73945125(+) CTGTCA/CTCTAA 2 -- ds50010--------
    rs101342431,2
    C,F,A,H--73945149(+) TTCTTT/CAACCT 2 -- ds500123Minor allele frequency- C:0.24NS EA NA WA CSA 2762
    rs1996973201,2
    C--73945263(+) AATGTG/CACCAG 2 -- ut311Minor allele frequency- C:0.00EU 1321
    rs2004088261,2
    --73945266(+) GTGACC/GAGGTC 2 -- ut310--------
    rs1391886831,2
    C,F--73945346(+) AGAAGA/TCATGA 4 T S mis12Minor allele frequency- T:0.00NA EU 5849
    rs1825304571,2
    C--73945404(+) GGGTAA/GTCGGA 4 D syn10--------
    rs788757241,2
    C,F--73945440(+) TTCTCG/TGGGGA 4 P syn13Minor allele frequency- T:0.04WA NA EU 5991
    rs1386617091,2
    C--73945496(+) GGTTAC/GGCCTG 4 L V mis10--------
    rs1412644621,2
    C,F--73945602(+) TGAGCG/AGCAGA 2 -- int11Minor allele frequency- A:0.00EU 975

    HapMap Linkage Disequilibrium report for HEATR4 (73945189 - 74025651 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for HEATR4 (see all 46):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv821106CNV Deletion20802225
    esv2672436CNV Deletion23128226
    esv2748866CNV Deletion23290073
    nsv436178CNV Deletion17901297
    esv2561778CNV Deletion19546169
    dgv401e199CNV Deletion23128226
    esv2748865CNV Deletion23290073
    esv2748867CNV Deletion23290073
    esv2665379CNV Deletion23128226
    dgv400e199CNV Deletion23128226

    Site Specific Mutation Identification with PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for HEATR4

    (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.)
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    (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)
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    PubMed articles for HEATR4 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with HEATR4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2, 3 Gerhard D.S.... Malek J. (Genome Res. 2004)
    2. Systematic mapping and functional analysis of a family of human epididymal secretory sperm-located proteins. (PubMed id 20736409)1, 2 Li J.... Liu Y. (Mol. Cell. Proteomics 2010)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (amp 2008)
    5. The DNA sequence and analysis of human chromosome 14. (PubMed id 12508121)2 Heilig R.... Weissenbach J. (Nature 2003)
    6. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 399671 HGNC: 16761 AceView: MGC48595 Ensembl:ENSG00000187105 euGenes: HUgn399671
    ECgene: HEATR4 H-InvDB: HEATR4

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for HEATR4 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for HEATR4 gene:
    Search GeneIP for patents involving HEATR4

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
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     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for HEATR4  
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     OriGene Custom Antibody Services for HEATR4   OriGene Custom Protein Services for HEATR4  

     
     
     Block miRNA regulation of human, mouse, rat HEATR4 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing HEATR4
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HEATR4 Predesigned siRNA for gene silencing in human, mouse, rat HEATR4
     QuantiFast Probe-based Assays in human, mouse, rat HEATR4 QuantiTect SYBR Green Assays in human, mouse, rat HEATR4
     Custom PCR Arrays for HEATR4 Search Chromatin IP Primers for HEATR4
     Pre-validated RT2 qPCR Primer Assay in human, mouse / rat HEATR4  Search GeneGlobe Interaction Network for HEATR4
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     Browse SwitchGear 3'UTR luciferase reporter plasmids for HEATR4
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     antibodies-online antibodies for HEATR4 (3 products)
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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