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Aliases for HEATR6 Gene

Aliases for HEATR6 Gene

  • HEAT Repeat Containing 6 2 3 5
  • Amplified In Breast Cancer Protein 1 3 4
  • Amplified In Breast Cancer 1 2 3
  • ABC1 3 4
  • HEAT Repeat-Containing Protein 6 3

External Ids for HEATR6 Gene

Previous GeneCards Identifiers for HEATR6 Gene

  • GC17M055476
  • GC17M058120
  • GC17M053492

Summaries for HEATR6 Gene

GeneCards Summary for HEATR6 Gene

HEATR6 (HEAT Repeat Containing 6) is a Protein Coding gene. Diseases associated with HEATR6 include Breast Cancer. Gene Ontology (GO) annotations related to this gene include binding.

UniProtKB/Swiss-Prot for HEATR6 Gene

  • Amplification-dependent oncogene.

Additional gene information for HEATR6 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HEATR6 Gene

Genomics for HEATR6 Gene

GeneHancer (GH) Regulatory Elements for HEATR6 Gene

Promoters and enhancers for HEATR6 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17I060077 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE 602.6 -1.6 -1641 6.9 PKNOX1 FOXA2 ARID4B SIN3A DMAP1 YY1 POLR2B ZNF548 FOS KLF13 HEATR6 LOC105371849 TUBD1 APPBP2 PPM1D DHX40 RPS6KB1 WFDC21P
GH17I059564 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 107.1 +513.0 512992 2.1 CLOCK YBX1 DMAP1 IRF4 SLC30A9 ZNF213 E2F8 ZNF416 ZNF143 SP3 DHX40 HEATR6 APPBP2 TUBD1 NDUFB8P2 RPS6KB1 LOC100996660 SKA2 SMG8 TRIM37
GH17I059824 Promoter/Enhancer 2.8 VISTA FANTOM5 Ensembl ENCODE dbSUPER 32.2 +236.0 236045 36.2 MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 GC17P059842 GC17P059843 GC17P059844 GC17P059845 GC17M059841 GC17M059842 GC17M059843 MIR21 PPM1D TUBD1
GH17I059616 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 31.7 +459.3 459256 6.8 CLOCK MLX FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 CLTC ENSG00000273702 TUBD1 RPS6KB1 HEATR6 SKA2 PPM1D DHX40 RNFT1 NDUFB8P2
GH17I059219 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 29.2 +858.3 858272 1.9 ARNT ARID4B NEUROD1 SIN3A DMAP1 ZNF2 ZBTB7B YY1 POLR2B ZNF207 GDPD1 TUBD1 RPS6KB1 HEATR6 NDUFB8P2 DHX40 MIR454 RAD51C SKA2 GC17P059261
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around HEATR6 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HEATR6 gene promoter:

Genomic Locations for HEATR6 Gene

Genomic Locations for HEATR6 Gene
chr17:60,043,191-60,078,931
(GRCh38/hg38)
Size:
35,741 bases
Orientation:
Minus strand
chr17:58,120,552-58,156,292
(GRCh37/hg19)

Genomic View for HEATR6 Gene

Genes around HEATR6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HEATR6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HEATR6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HEATR6 Gene

Proteins for HEATR6 Gene

  • Protein details for HEATR6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6AI08-HEAT6_HUMAN
    Recommended name:
    HEAT repeat-containing protein 6
    Protein Accession:
    Q6AI08
    Secondary Accessions:
    • B3KXP3
    • Q6MZX1
    • Q6MZY2
    • Q8TDM9
    • Q9H6B3
    • Q9H6M7

    Protein attributes for HEATR6 Gene

    Size:
    1181 amino acids
    Molecular mass:
    128781 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • 17q23 region is one of the most commonly amplified regions in breast cancer and therefore may harbor genes important for breast cancer development and progression.
    SequenceCaution:
    • Sequence=AAL83912.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB15229.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB15348.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for HEATR6 Gene

Post-translational modifications for HEATR6 Gene

No Post-translational modifications

No data available for DME Specific Peptides for HEATR6 Gene

Domains & Families for HEATR6 Gene

Gene Families for HEATR6 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for HEATR6 Gene

Suggested Antigen Peptide Sequences for HEATR6 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with HEATR6: view

No data available for UniProtKB/Swiss-Prot for HEATR6 Gene

Function for HEATR6 Gene

Molecular function for HEATR6 Gene

UniProtKB/Swiss-Prot Function:
Amplification-dependent oncogene.

Phenotypes From GWAS Catalog for HEATR6 Gene

Gene Ontology (GO) - Molecular Function for HEATR6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22681889
GO:0005319 lipid transporter activity IEA --
genes like me logo Genes that share ontologies with HEATR6: view
genes like me logo Genes that share phenotypes with HEATR6: view

Animal Model Products

miRNA for HEATR6 Gene

miRTarBase miRNAs that target HEATR6

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HEATR6 Gene

Localization for HEATR6 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 HEATR6 gene
Compartment Confidence
nucleus 3
mitochondrion 2
cytosol 2
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for HEATR6 Gene

Pathways & Interactions for HEATR6 Gene

SuperPathways for HEATR6 Gene

No Data Available

Gene Ontology (GO) - Biological Process for HEATR6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006869 lipid transport IEA --
genes like me logo Genes that share ontologies with HEATR6: view

No data available for Pathways by source and SIGNOR curated interactions for HEATR6 Gene

Drugs & Compounds for HEATR6 Gene

No Compound Related Data Available

Transcripts for HEATR6 Gene

Unigene Clusters for HEATR6 Gene

HEAT repeat containing 6:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for HEATR6 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a ·
SP1: - - -
SP2: - -
SP3: - -
SP4: - - - - -
SP5:
SP6: - -
SP7:
SP8: - - - - - - - - - - - - - - -

ExUns: 19b ^ 20 ^ 21a · 21b ^ 22a · 22b
SP1:
SP2:
SP3:
SP4:
SP5: -
SP6:
SP7:
SP8:

Relevant External Links for HEATR6 Gene

GeneLoc Exon Structure for
HEATR6
ECgene alternative splicing isoforms for
HEATR6

Expression for HEATR6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HEATR6 Gene

Protein differential expression in normal tissues from HIPED for HEATR6 Gene

This gene is overexpressed in Bone (51.0) and Breast (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for HEATR6 Gene



Protein tissue co-expression partners for HEATR6 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HEATR6 Gene:

HEATR6

SOURCE GeneReport for Unigene cluster for HEATR6 Gene:

Hs.591183

mRNA Expression by UniProt/SwissProt for HEATR6 Gene:

Q6AI08-HEAT6_HUMAN
Tissue specificity: Amplified in breast cancer cell lines MCF-7 and BT-474.

Evidence on tissue expression from TISSUES for HEATR6 Gene

  • Kidney(4.2)
  • Intestine(4.1)
genes like me logo Genes that share expression patterns with HEATR6: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for HEATR6 Gene

Orthologs for HEATR6 Gene

This gene was present in the common ancestor of animals.

Orthologs for HEATR6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HEATR6 33 34
  • 99.32 (n)
dog
(Canis familiaris)
Mammalia HEATR6 33 34
  • 88.37 (n)
cow
(Bos Taurus)
Mammalia HEATR6 33 34
  • 87.3 (n)
rat
(Rattus norvegicus)
Mammalia Heatr6 33
  • 83.14 (n)
mouse
(Mus musculus)
Mammalia Heatr6 33 16 34
  • 82.73 (n)
oppossum
(Monodelphis domestica)
Mammalia HEATR6 34
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HEATR6 34
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves HEATR6 33 34
  • 73.11 (n)
lizard
(Anolis carolinensis)
Reptilia HEATR6 34
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100487263 33
  • 65.72 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC53988 33
zebrafish
(Danio rerio)
Actinopterygii zgc:172359 33
  • 59.34 (n)
HEATR6 34
  • 53 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG16989 33 34
  • 43.96 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007509 33
Species where no ortholog for HEATR6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for HEATR6 Gene

ENSEMBL:
Gene Tree for HEATR6 (if available)
TreeFam:
Gene Tree for HEATR6 (if available)

Paralogs for HEATR6 Gene

genes like me logo Genes that share paralogs with HEATR6: view

No data available for Paralogs for HEATR6 Gene

Variants for HEATR6 Gene

Sequence variations from dbSNP and Humsavar for HEATR6 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000020598 -- 60,052,732(-) G/A intron_variant
rs1000061511 -- 60,059,213(-) A/G intron_variant
rs1000133281 -- 60,060,467(-) C/T intron_variant
rs1000218984 -- 60,047,384(-) G/A coding_sequence_variant, synonymous_variant
rs1000233488 -- 60,060,285(-) T/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for HEATR6 Gene

Variant ID Type Subtype PubMed ID
esv2653138 CNV deletion 19546169
esv2758700 CNV gain+loss 17122850
esv3640918 CNV gain 21293372
esv3640920 CNV loss 21293372
esv3640921 CNV loss 21293372
nsv428348 CNV gain 18775914
nsv471702 CNV gain 15918152
nsv499622 OTHER inversion 21111241
nsv7295 OTHER inversion 18451855
nsv833502 CNV gain 17160897
nsv833504 CNV gain 17160897

Variation tolerance for HEATR6 Gene

Residual Variation Intolerance Score: 18.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.12; 80.58% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HEATR6 Gene

Human Gene Mutation Database (HGMD)
HEATR6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HEATR6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HEATR6 Gene

Disorders for HEATR6 Gene

MalaCards: The human disease database

(1) MalaCards diseases for HEATR6 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
breast cancer
  • breast cancer, familial
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for HEATR6

genes like me logo Genes that share disorders with HEATR6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HEATR6 Gene

Publications for HEATR6 Gene

  1. The 17q23 amplicon and breast cancer. (PMID: 12755490) Sinclair CS … Couch FJ (Breast cancer research and treatment 2003) 2 3 58
  2. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  3. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal KB … Olsen JV (Science signaling 2015) 3 58
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58
  5. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C … Emili A (Nature 2015) 3 58

Products for HEATR6 Gene

Sources for HEATR6 Gene

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