Free for academic non-profit institutions. Other users need a Commercial license

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.

No data available for Entrez Gene 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
GH02F036657 0.7 Ensembl ENCODE 31.4 +425.1 425078 3.2 ATF1 MLX ZFP64 ARID4B SLC30A9 FOS ZNF202 JUNB MXD4 MIER2 ENSG00000272054 HEATR5B CEBPZ PRKD3 CRIM1 VIT LOC100422559
GH02F037916 1 Ensembl ENCODE 13.5 -832.6 -832562 1.2 JUND STAT1 HLF DDX20 ZNF26 SIN3A ENSG00000272054 HEATR5B RMDN2 LINC00211
GH02F037110 0.9 ENCODE 13 -26.6 -26588 0.1 CEBPB EMSY GPATCH11 HEATR5B ENSG00000224891
GH02F037168 1 Ensembl ENCODE 12.2 -84.1 -84094 0.5 ELF3 CTCF ZFP64 ARID4B CEBPG ZNF2 RAD21 IRF9 GTF3C2 ZNF143 CEBPZ ENSG00000272054 NDUFAF7 HEATR5B CEBPZOS EIF2AK2 SULT6B1 RPL31P16
GH02F036378 0.9 Ensembl ENCODE 11.5 +703.5 703470 3.9 PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF48 SLC30A9 ZNF202 SP5 ENSG00000272054 CEBPZ HEATR5B LOC100288911 GC02P036388 CRIM1
- Elite enhancer/Elite enhancer-gene association Download Table
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
ENSR00000012433 75 2201 PKNOX1 MLX WRNIP1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9

Genomic Location for HEATR5B Gene

Chromosome:
2
Start:
36,968,383 bp from pter
End:
37,084,375 bp from pter
Size:
115,993 bases
Orientation:
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:
    Q9P2D3-HTR5B_HUMAN
    Recommended name:
    HEAT repeat-containing protein 5B
    Protein Accession:
    Q9P2D3
    Secondary Accessions:
    • B5MDU8
    • Q7Z3B2
    • Q9NVL7

    Protein attributes for HEATR5B Gene

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

    Alternative splice isoforms for HEATR5B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HEATR5B Gene

Post-translational modifications for HEATR5B Gene

  • Ubiquitination at Lys 1829
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for HEATR5B Gene

Domains & Families for HEATR5B Gene

Protein Domains for HEATR5B Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for HEATR5B Gene

Graphical View of Domain Structure for InterPro Entry

Q9P2D3

UniProtKB/Swiss-Prot:

HTR5B_HUMAN :
  • Belongs to the HEATR5 family.
  • Contains 3 HEAT repeats.
Family:
  • Belongs to the HEATR5 family.
Similarity:
  • Contains 3 HEAT repeats.
genes like me logo Genes that share domains with HEATR5B: view

No data available for Gene Families for HEATR5B Gene

Function 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

Inhibitory RNA Products

Flow Cytometry 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

COMPARTMENTS
Jensen Localization Image for HEATR5B Gene COMPARTMENTS Subcellular localization image for HEATR5B gene
Compartment Confidence
extracellular 5
cytosol 3
plasma membrane 3
nucleus 2
peroxisome 1

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

None

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

Transcripts for HEATR5B Gene

Unigene Clusters for HEATR5B Gene

HEAT repeat containing 5B:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry 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: -
SP4:
SP5:
SP6:
SP7:
SP8:

ExUns: 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28a · 28b ^ 29a · 29b ^ 30 ^ 31 ^ 32 ^ 33a · 33b ^ 34 ^ 35 ^ 36a · 36b ^ 37
SP1: -
SP2: -
SP3: -
SP4: - -
SP5:
SP6:
SP7:
SP8:

Relevant External Links for HEATR5B Gene

GeneLoc Exon Structure for
HEATR5B
ECgene alternative splicing isoforms for
HEATR5B

Expression for HEATR5B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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:

HEATR5B

SOURCE GeneReport for Unigene cluster for HEATR5B Gene:

Hs.744084
genes like me logo Genes that share expression patterns with HEATR5B: 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 mRNA Expression by UniProt/SwissProt 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
chimpanzee
(Pan troglodytes)
Mammalia HEATR5B 34 35
  • 99.47 (n)
cow
(Bos Taurus)
Mammalia HEATR5B 35
  • 97 (a)
OneToOne
LOC540503 34
  • 92.51 (n)
oppossum
(Monodelphis domestica)
Mammalia HEATR5B 35
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HEATR5B 34 35
  • 92.58 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia HEATR5B 35
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Heatr5b 34 16 35
  • 86.97 (n)
rat
(Rattus norvegicus)
Mammalia Heatr5b 34
  • 86.56 (n)
chicken
(Gallus gallus)
Aves HEATR5B 34 35
  • 81.26 (n)
lizard
(Anolis carolinensis)
Reptilia HEATR5B 35
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia heatr5b 34
  • 75.98 (n)
Str.14 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.19754 34
zebrafish
(Danio rerio)
Actinopterygii HEATR5B (1 of 2) 35
  • 85 (a)
OneToMany
heatr5b 34
  • 71.47 (n)
CABZ01061567.1 35
  • 64 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG2747 34 35
  • 53.49 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002215 34
  • 53.04 (n)
worm
(Caenorhabditis elegans)
Secernentea C13F10.4 34 35
  • 48.25 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes LAA1 35
  • 16 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 50 (a)
OneToMany
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

ENSEMBL:
Gene Tree for HEATR5B (if available)
TreeFam:
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
rs10048628 -- 37,035,616(+) TCTGT(G/T)AACAA intron-variant
rs1007823 -- 37,003,585(+) GCTCT(C/T)ACTAT nc-transcript-variant, reference, synonymous-codon
rs10084315 -- 37,022,599(+) aaagg(C/T)tgtag intron-variant
rs10084334 -- 37,023,748(+) ACTTA(C/G)CTTGG intron-variant
rs1008838 -- 37,025,092(-) AAATG(C/T)GCTAT intron-variant

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

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

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
HEATR5B

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)
HEATR5B
Human Genome Epidemiology (HuGE) Navigator
HEATR5B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HEATR5B

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 Res. 2000) 2 3 4 64
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  3. Gene variants associated with ischemic stroke: the cardiovascular health study. (PMID: 19023099) Luke M.M. … Psaty B.M. (Stroke 2009) 3 46 64
  4. Association of gene variants with incident myocardial infarction in the Cardiovascular Health Study. (PMID: 17975119) Shiffman D. … Psaty B.M. (Arterioscler. Thromb. Vasc. Biol. 2008) 3 46 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for HEATR5B Gene

Sources for HEATR5B Gene

Content
Loading form....