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HEATR6 Gene(Protein Coding)

HEAT Repeat Containing 6

GCID:
GC17M060047
GIFtS:
48
Genes Participants
UDN Logo

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. GO annotations related to this gene include poly(A) RNA binding and binding.

UniProtKB/Swiss-Prot for HEATR6 Gene

  • Amplification-dependent oncogene.

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

Products:

  1. Regulatory Element

Regulatory Elements for HEATR6 Gene

Enhancers for HEATR6 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
GH17G060089 1.7 FANTOM5 Ensembl ENCODE dbSUPER 28.3 -12.3 -12305 4.5 BCOR PKNOX1 CBX3 SUZ12 ZMYM3 NFXL1 CBX5 NFYB EED ETV6 HEATR6 RNFT1 WFDC21P LOC105371849
GH17G060077 1.3 Ensembl ENCODE 30.4 -1.6 -1642 6.9 PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF548 FOS SP3 HEATR6 APPBP2 PPM1D DHX40 RPS6KB1 LOC105371849 WFDC21P
GH17G060093 1.3 FANTOM5 ENCODE dbSUPER 27.3 -15.9 -15876 2.0 CTCF ETV1 SIN3A THRB ZBTB7B RAD21 GATA3 ELK1 EED SMC3 HEATR6 RNFT1 WFDC21P LOC653653
GH17G060304 1.2 Ensembl ENCODE 17.2 -226.4 -226425 1.0 PKNOX1 ATF1 MLX ARID4B DMAP1 YY1 ZNF766 GLIS2 CBX5 ZNF143 HEATR6 RPL32P32 SCARNA20 GC17M060304 LOC100418753
GH17G060141 1.7 FANTOM5 Ensembl ENCODE 12.1 -63.6 -63570 2.2 HDGF PKNOX1 FOXA2 CREB3L1 ARNT ARID4B SIN3A DMAP1 YBX1 ZNF2 HEATR6 APPBP2 CA4 VMP1 USP32 PPM1D GC17M060139
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HEATR6 on UCSC Golden Path with GeneCards custom track

Promoters for HEATR6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000096439 -169 1801 PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 SP3 MXD4 REST

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

Genomic Location for HEATR6 Gene

Chromosome:
17
Start:
60,043,191 bp from pter
End:
60,078,931 bp from pter
Size:
35,741 bases
Orientation:
Minus strand

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 Structure • Gene Density

RefSeq DNA sequence for HEATR6 Gene

Proteins for HEATR6 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for HEATR6 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for HEATR6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HEATR6 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HEATR6 Gene

Domains & Families for HEATR6 Gene

Protein Domains for HEATR6 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for HEATR6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

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

Function for HEATR6 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for HEATR6 Gene

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

Gene Ontology (GO) - Molecular Function for HEATR6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA 22681889
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

CRISPR Products

miRNA for HEATR6 Gene

miRTarBase miRNAs that target HEATR6

Inhibitory RNA Products

Flow Cytometry 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

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

PathCards logo More details on SuperPathways for HEATR6
No Data Available

Gene Ontology (GO) - Biological Process for HEATR6 Gene

None

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

Drugs & Compounds for HEATR6 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for HEATR6 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for HEATR6 Gene

(8) REFSEQ mRNAs :
(10) Additional mRNA sequences :
(117) Selected AceView cDNA sequences:
(12) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for HEATR6 Gene

HEAT repeat containing 6:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry 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

Products:

  1. Primer

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

mRNA expression in normal human tissues for HEATR6 Gene
mRNA expression by BioGPS for HEATR6 GenemRNA expression by GTEx 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

Primer Products

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 34 35
  • 99.32 (n)
dog
(Canis familiaris)
 Mammalia HEATR6 34 35
  • 88.37 (n)
cow
(Bos Taurus)
 Mammalia HEATR6 34 35
  • 87.3 (n)
rat
(Rattus norvegicus)
 Mammalia Heatr6 34
  • 83.14 (n)
mouse
(Mus musculus)
 Mammalia Heatr6 34 16 35
  • 82.73 (n)
oppossum
(Monodelphis domestica)
 Mammalia HEATR6 35
  • 75 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia HEATR6 35
  • 75 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves HEATR6 34 35
  • 73.11 (n)
lizard
(Anolis carolinensis)
 Reptilia HEATR6 35
  • 62 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia LOC100487263 34
  • 65.72 (n)
African clawed frog
(Xenopus laevis)
 Amphibia MGC53988 34
zebrafish
(Danio rerio)
 Actinopterygii zgc:172359 34
  • 59.34 (n)
HEATR6 35
  • 53 (a)
 OneToOne
fruit fly
(Drosophila melanogaster)
 Insecta CG16989 34 35
  • 43.96 (n)
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP007509 34
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

(10) SIMAP similar genes for HEATR6 Gene using alignment to 10 proteins:

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 Sequence Context AA Info Type
rs1000020598 -- 60,052,732(+) AAGTA(A/G)AAGCC intron-variant
rs1000061511 -- 60,059,213(+) TTACA(A/G)TTAAT intron-variant
rs1000133281 -- 60,060,467(+) CATTG(C/T)TGTTA intron-variant
rs1000218984 -- 60,047,384(+) TCCTG(A/G)AAACT reference, synonymous-codon
rs1000233488 -- 60,060,285(+) TATTT(A/T)ATTTT 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)

Relevant External Links 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, invasive ductal
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for HEATR6

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 C.S. … Couch F.J. (Breast Cancer Res. Treat. 2003) 2 3 64
  2. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3 64
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
  4. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3 64
  5. A negative genetic interaction map in isogenic cancer cell lines reveals cancer cell vulnerabilities. (PMID: 24104479) Vizeacoumar F.J. … Moffat J. (Mol. Syst. Biol. 2013) 3 64

Products for HEATR6 Gene

Sources for HEATR6 Gene

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