Aliases for HEATR6 Gene

Aliases for HEATR6 Gene

  • HEAT Repeat Containing 6 2 3 5
  • ABC1 2 3 4
  • Amplified In Breast Cancer Protein 1 3 4
  • HEAT Repeat-Containing Protein 6 3 4
  • Amplified In Breast Cancer 1 2 3
  • FLJ22087 2
  • HEATR6 5

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 Summary for HEATR6 Gene

Additional gene information for HEATR6 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HEATR6 Gene

Genomics for HEATR6 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for HEATR6 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HEATR6 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HEATR6

Top Transcription factor binding sites by QIAGEN in the HEATR6 gene promoter:
  • HOXA5
  • HOXA9
  • HOXA9B
  • IRF-7A
  • ISGF-3
  • Lmo2
  • Meis-1
  • Meis-1a
  • STAT5A

Genomic Locations for HEATR6 Gene

Genomic Locations for HEATR6 Gene
chr17:60,041,008-60,078,922
(GRCh38/hg38)
Size:
37,915 bases
Orientation:
Minus strand
chr17:58,120,552-58,156,292
(GRCh37/hg19)
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 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
    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};
    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.

neXtProt entry for HEATR6 Gene

Post-translational modifications for HEATR6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for HEATR6 Gene

Domains & Families for HEATR6 Gene

Gene Families for HEATR6 Gene

Protein Domains for HEATR6 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for HEATR6 Gene

GenScript: Design optimal peptide antigens:
  • Amplified in breast cancer protein 1 (HEAT6_HUMAN)
  • HEATR6 protein (Q0VD96_HUMAN)
genes like me logo Genes that share domains with HEATR6: view

No data available for Graphical View of Domain Structure and 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
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

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HEATR6

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
plasma membrane 1
extracellular 1
cytoskeleton 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

PathCards logo

SuperPathways for HEATR6 Gene

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

No Compound Related Data Available

Transcripts for HEATR6 Gene

mRNA/cDNA for HEATR6 Gene

1 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HEATR6

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

Expression for HEATR6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for HEATR6 Gene



Protein tissue co-expression partners for HEATR6 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.4)
  • Intestine(4.4)
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 30 31
  • 99.32 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia HEATR6 30 31
  • 88.37 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia HEATR6 30 31
  • 87.3 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Heatr6 30
  • 83.14 (n)
Mouse
(Mus musculus)
Mammalia Heatr6 30 17 31
  • 82.73 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia HEATR6 31
  • 75 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia HEATR6 31
  • 75 (a)
OneToOne
Chicken
(Gallus gallus)
Aves HEATR6 30 31
  • 73.11 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia HEATR6 31
  • 62 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100487263 30
  • 65.72 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC53988 30
Zebrafish
(Danio rerio)
Actinopterygii zgc:172359 30
  • 59.34 (n)
HEATR6 31
  • 53 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG16989 30 31
  • 43.96 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007509 30
Species where no ortholog for HEATR6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for HEATR6: view image

Paralogs for HEATR6 Gene

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

  • HEAT6_HUMAN
  • K7EIX2_HUMAN
  • K7EK31_HUMAN
  • K7EKB1_HUMAN
  • K7EKF5_HUMAN
  • K7EKW7_HUMAN
  • K7ELA5_HUMAN
  • K7ELR8_HUMAN
  • K7ESP5_HUMAN
  • Q0VD96_HUMAN
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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HEATR6 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs16943991 - p.Ser1006Leu
rs3744376 - p.Ala71Val

Additional dbSNP identifiers (rs#s) for HEATR6 Gene

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 lobular carcinoma
- 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
  2. PLEKHA4/kramer Attenuates Dishevelled Ubiquitination to Modulate Wnt and Planar Cell Polarity Signaling. (PMID: 31091453) Shami Shah A … Baskin JM (Cell reports 2019) 3
  3. CTDP1 regulates breast cancer survival and DNA repair through BRCT-specific interactions with FANCI. (PMID: 31240132) Hu WF … Woods NT (Cell death discovery 2019) 3
  4. CRISPR/Cas9-mediated Genomic Editing of Cluap1/IFT38 Reveals a New Role in Actin Arrangement. (PMID: 29615496) Beyer T … Boldt K (Molecular & cellular proteomics : MCP 2018) 3
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3

Products for HEATR6 Gene

  • Signalway Proteins for HEATR6

Sources for HEATR6 Gene