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Aliases for HEATR5B Gene

Aliases for HEATR5B Gene

  • HEAT Repeat Containing 5B 2 3 5
  • KIAA1414 4

External Ids for HEATR5B Gene

Previous GeneCards Identifiers for HEATR5B Gene

  • GC02M037061
  • GC02M037195

Summaries for HEATR5B Gene

GeneCards Summary for HEATR5B Gene

HEATR5B (HEAT Repeat Containing 5B) is a Protein Coding gene. GO annotations related to this gene include binding. An important paralog of this gene is HEATR5A.

Additional gene information for HEATR5B Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HEATR5B Gene

Genomics for HEATR5B Gene

Regulatory Elements for HEATR5B Gene

Enhancers for HEATR5B 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
GH02H037582 1.8 FANTOM5 Ensembl ENCODE dbSUPER 13.2 -502.4 -502360 8.8 HDGF PKNOX1 ZSCAN4 BATF RAD21 RFX5 ELK1 SCRT2 FOS ETV6 CDC42EP3 ENSG00000272054 HEATR5B LOC105374464 PRKD3 EIF2AK2 CYP1B1 GC02M037562 GC02P037671
GH02H037560 1.9 FANTOM5 Ensembl ENCODE dbSUPER 12.1 -477.7 -477717 3.8 PKNOX1 ATF1 ARNT TCF12 ZNF766 GATA2 ATF7 FOS CAVIN1 NCOA1 ENSG00000272054 CEBPZ CDC42EP3 HEATR5B LOC105374464 EIF2AK2 GC02M037562
GH02H038070 1.5 Ensembl ENCODE dbSUPER 11.6 -989.8 -989848 7.6 FOXA2 PKNOX1 ARNT SIN3A YY1 GLIS2 ZNF143 FOS KLF7 RUNX3 ENSG00000272054 SRSF7 DHX57 ASS1P2 CYP1B1 CEBPZ HEATR5B RMDN2 CYP1B1-AS1
GH02H036378 1.5 Ensembl ENCODE dbSUPER 11.6 +703.5 703470 3.9 PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 TCF12 SLC30A9 RUNX3 ZNF202 ENSG00000272054 CEBPZ HEATR5B LOC100288911 GC02P036388 CRIM1
GH02H036614 1.1 Ensembl ENCODE 12 +467.9 467913 4.7 ATF1 ZNF76 ETS1 SMARCC2 ZNF143 FOS CREM THAP11 SP3 NFYA ENSG00000272054 FEZ2 HEATR5B CEBPZ PRKD3 CRIM1 GC02M036589
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HEATR5B on UCSC Golden Path with GeneCards custom track

Promoters for HEATR5B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000115312 75 1801 PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9

Genomic Locations for HEATR5B Gene

Genomic Locations for HEATR5B Gene
115,993 bases
Minus strand

Genomic View for HEATR5B Gene

Genes around HEATR5B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HEATR5B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HEATR5B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HEATR5B Gene

Proteins for HEATR5B Gene

  • Protein details for HEATR5B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    HEAT repeat-containing protein 5B
    Protein Accession:
    Secondary Accessions:
    • B5MDU8
    • Q7Z3B2
    • Q9NVL7

    Protein attributes for HEATR5B Gene

    2071 amino acids
    Molecular mass:
    224302 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAA91733.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for HEATR5B Gene


neXtProt entry for HEATR5B Gene

Post-translational modifications for HEATR5B Gene

  • Ubiquitination at posLast=18291829
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for HEATR5B Gene

Domains & Families for HEATR5B Gene

Gene Families for HEATR5B Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for HEATR5B Gene


Suggested Antigen Peptide Sequences for HEATR5B Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the HEATR5 family.
  • Belongs to the HEATR5 family.
genes like me logo Genes that share domains with HEATR5B: view

Function for HEATR5B Gene

Phenotypes From GWAS Catalog for HEATR5B Gene

genes like me logo Genes that share phenotypes with HEATR5B: view

Animal Model Products

miRNA for HEATR5B Gene

miRTarBase miRNAs that target HEATR5B

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HEATR5B Gene

Localization for HEATR5B Gene

Subcellular locations from

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 HEATR5B gene
Compartment Confidence
extracellular 5
plasma membrane 3
cytosol 3
nucleus 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoli (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HEATR5B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IDA 19946888
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with HEATR5B: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for HEATR5B Gene

Pathways & Interactions for HEATR5B Gene

SuperPathways for HEATR5B Gene

No Data Available

Gene Ontology (GO) - Biological Process for HEATR5B Gene


No data available for Pathways by source and SIGNOR curated interactions for HEATR5B Gene

Drugs & Compounds for HEATR5B Gene

No Compound Related Data Available

Transcripts for HEATR5B Gene

Unigene Clusters for HEATR5B Gene

HEAT repeat containing 5B:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for HEATR5B Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16a · 16b ^ 17 ^ 18 ^ 19a · 19b ^ 20 ^ 21 ^ 22 ^
SP1: - -
SP2: - -
SP3: -

ExUns: 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28a · 28b ^ 29a · 29b ^ 30 ^ 31 ^ 32 ^ 33a · 33b ^ 34 ^ 35 ^ 36a · 36b ^ 37
SP1: -
SP2: -
SP3: -
SP4: - -

Relevant External Links for HEATR5B Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for HEATR5B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HEATR5B Gene

Protein differential expression in normal tissues from HIPED for HEATR5B Gene

This gene is overexpressed in Peripheral blood mononuclear cells (16.1), Adipocyte (8.9), and Lymph node (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for HEATR5B Gene

Protein tissue co-expression partners for HEATR5B Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HEATR5B Gene:


SOURCE GeneReport for Unigene cluster for HEATR5B Gene:


Evidence on tissue expression from TISSUES for HEATR5B Gene

  • Nervous system(4.6)
genes like me logo Genes that share expression patterns with HEATR5B: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for HEATR5B Gene

Orthologs for HEATR5B Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for HEATR5B Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia HEATR5B 33 34
  • 99.47 (n)
(Bos Taurus)
Mammalia HEATR5B 34
  • 97 (a)
LOC540503 33
  • 92.51 (n)
(Monodelphis domestica)
Mammalia HEATR5B 34
  • 94 (a)
(Canis familiaris)
Mammalia HEATR5B 33 34
  • 92.58 (n)
(Ornithorhynchus anatinus)
Mammalia HEATR5B 34
  • 91 (a)
(Mus musculus)
Mammalia Heatr5b 33 16 34
  • 86.97 (n)
(Rattus norvegicus)
Mammalia Heatr5b 33
  • 86.56 (n)
(Gallus gallus)
Aves HEATR5B 33 34
  • 81.26 (n)
(Anolis carolinensis)
Reptilia HEATR5B 34
  • 90 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia heatr5b 33
  • 75.98 (n)
Str.14 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.19754 33
(Danio rerio)
Actinopterygii HEATR5B (1 of 2) 34
  • 85 (a)
heatr5b 33
  • 71.47 (n)
CABZ01061567.1 34
  • 64 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG2747 33 34
  • 53.49 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002215 33
  • 53.04 (n)
(Caenorhabditis elegans)
Secernentea C13F10.4 33 34
  • 48.25 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes LAA1 34
  • 16 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 50 (a)
Species where no ortholog for HEATR5B 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)
  • 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 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)

Evolution for HEATR5B Gene

Gene Tree for HEATR5B (if available)
Gene Tree for HEATR5B (if available)

Paralogs for HEATR5B Gene

Paralogs for HEATR5B Gene

(1) SIMAP similar genes for HEATR5B Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with HEATR5B: view

Variants for HEATR5B Gene

Sequence variations from dbSNP and Humsavar for HEATR5B Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1000041110 -- 37,009,492(+) GGATC(A/G)CTTAA intron-variant
rs1000046415 -- 36,984,584(+) TTTGT(A/G)TAAGA intron-variant
rs1000061893 -- 37,037,330(+) AGTAT(A/G)GATGG intron-variant
rs1000151344 -- 37,083,994(+) TCCGG(A/C)ATGCA intron-variant, nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime
rs1000175946 -- 36,999,728(+) AACCT(C/T)CCGGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for HEATR5B Gene

Variant ID Type Subtype PubMed ID
nsv581472 CNV loss 21841781
nsv581471 CNV loss 21841781
nsv581470 CNV gain 21841781
nsv456363 CNV gain 19166990
nsv428395 CNV gain 18775914
nsv1138767 CNV deletion 24896259
nsv1121565 CNV deletion 24896259
esv2719930 CNV deletion 23290073
esv2719928 CNV deletion 23290073
esv2719927 CNV deletion 23290073
esv2719926 CNV deletion 23290073

Variation tolerance for HEATR5B Gene

Residual Variation Intolerance Score: 0.783% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.48; 77.53% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HEATR5B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HEATR5B Gene

Disorders for HEATR5B Gene

Relevant External Links for HEATR5B

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:

No disorders were found for HEATR5B Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for HEATR5B Gene

Publications for HEATR5B Gene

  1. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10718198) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 2 3 4 60
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60
  3. Gene variants associated with ischemic stroke: the cardiovascular health study. (PMID: 19023099) Luke MM … Psaty BM (Stroke 2009) 3 45 60
  4. Association of gene variants with incident myocardial infarction in the Cardiovascular Health Study. (PMID: 17975119) Shiffman D … Psaty BM (Arteriosclerosis, thrombosis, and vascular biology 2008) 3 45 60
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60

Products for HEATR5B Gene

Sources for HEATR5B Gene

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