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Aliases for HEATR4 Gene

Aliases for HEATR4 Gene

  • HEAT Repeat Containing 4 2 3 5

External Ids for HEATR4 Gene

Previous GeneCards Identifiers for HEATR4 Gene

  • GC14M073015
  • GC14M073946
  • GC14M054111

Summaries for HEATR4 Gene

GeneCards Summary for HEATR4 Gene

HEATR4 (HEAT Repeat Containing 4) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include binding.

Additional gene information for HEATR4 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 HEATR4 Gene

Genomics for HEATR4 Gene

GeneHancer (GH) Regulatory Elements for HEATR4 Gene

Promoters and enhancers for HEATR4 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
GH14I073558 Promoter 0.6 EPDnew 550.8 0.0 -20 0.1 RFX1 HEATR4 GC14M073564
GH14I073711 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 7.2 -154.9 -154878 3.8 HDGF ATF1 ARID4B SIN3A DMAP1 ZNF48 YY1 ZNF213 ZNF143 KLF7 PNMA1 PIR61365 RBM25 ENSG00000258559 ABCD4 ELMSAN1 LOC100506476 HEATR4 GC14P073713
GH14I073632 Promoter/Enhancer 1.3 Ensembl ENCODE 9.1 -75.1 -75055 2 HDGF CLOCK RB1 SIN3A DMAP1 ZBTB40 RAD21 YY1 ETS1 ZNF335 ENSG00000258603 ENSG00000258559 ABCD4 RBM25 PNMA1 PTGR2 ENSG00000223300 HEATR4 LOC100506476 DNAL1
GH14I072924 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 4.6 +632.7 632704 3.6 HDGF PKNOX1 CLOCK MLX ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B DCAF4 LOC100420966 ZNF410 PSEN1 LOC101928123 RBM25 ELMSAN1 ZFYVE1 HEATR4 DPF3
GH14I073464 Enhancer 1.4 FANTOM5 ENCODE dbSUPER 6.2 +91.7 91747 5.4 FOXA2 SMAD1 BMI1 FEZF1 BATF EGR1 ATF7 FOS BCLAF1 IKZF2 NUMB PSEN1 ACOT1 HEATR4 LOC101928123 ENSG00000258695 DCAF4 ZNF410 ZFYVE1 RBM25
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around HEATR4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HEATR4 gene promoter:

Genomic Locations for HEATR4 Gene

Genomic Locations for HEATR4 Gene
chr14:73,478,484-73,558,947
(GRCh38/hg38)
Size:
80,464 bases
Orientation:
Minus strand
chr14:73,945,189-74,025,651
(GRCh37/hg19)

Genomic View for HEATR4 Gene

Genes around HEATR4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HEATR4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HEATR4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HEATR4 Gene

Proteins for HEATR4 Gene

  • Protein details for HEATR4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86WZ0-HEAT4_HUMAN
    Recommended name:
    HEAT repeat-containing protein 4
    Protein Accession:
    Q86WZ0
    Secondary Accessions:
    • B7Z7V9
    • E9KL41

    Protein attributes for HEATR4 Gene

    Size:
    1026 amino acids
    Molecular mass:
    117175 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH47590.1; Type=Erroneous termination; Positions=39; Note=Translated as Glu.; Evidence={ECO:0000305};

neXtProt entry for HEATR4 Gene

Post-translational modifications for HEATR4 Gene

No Post-translational modifications

No data available for DME Specific Peptides for HEATR4 Gene

Domains & Families for HEATR4 Gene

Gene Families for HEATR4 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for HEATR4 Gene

Suggested Antigen Peptide Sequences for HEATR4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with HEATR4: view

No data available for UniProtKB/Swiss-Prot for HEATR4 Gene

Function for HEATR4 Gene

Phenotypes From GWAS Catalog for HEATR4 Gene

genes like me logo Genes that share phenotypes with HEATR4: view

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for HEATR4 Gene

Localization for HEATR4 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 HEATR4 gene
Compartment Confidence
nucleus 2
mitochondrion 1
cytosol 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for HEATR4 Gene

Pathways & Interactions for HEATR4 Gene

SuperPathways for HEATR4 Gene

No Data Available

Interacting Proteins for HEATR4 Gene

Selected Interacting proteins: Q86WZ0-HEAT4_HUMAN for HEATR4 Gene via IID

Symbol External ID(s) Details
ESR2

Gene Ontology (GO) - Biological Process for HEATR4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006869 lipid transport IEA --
genes like me logo Genes that share ontologies with HEATR4: view

No data available for Pathways by source and SIGNOR curated interactions for HEATR4 Gene

Drugs & Compounds for HEATR4 Gene

No Compound Related Data Available

Transcripts for HEATR4 Gene

Unigene Clusters for HEATR4 Gene

HEAT repeat containing 4:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for HEATR4 Gene

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

ExUns: 20 ^ 21
SP1:
SP2:
SP3:
SP4:
SP5:

Relevant External Links for HEATR4 Gene

GeneLoc Exon Structure for
HEATR4
ECgene alternative splicing isoforms for
HEATR4

Expression for HEATR4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HEATR4 Gene

mRNA differential expression in normal tissues according to GTEx for HEATR4 Gene

This gene is overexpressed in Testis (x10.4).

Protein differential expression in normal tissues from HIPED for HEATR4 Gene

This gene is overexpressed in Adipocyte (60.4) and Heart (8.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for HEATR4 Gene



Protein tissue co-expression partners for HEATR4 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HEATR4 Gene:

HEATR4

SOURCE GeneReport for Unigene cluster for HEATR4 Gene:

Hs.660774
genes like me logo Genes that share expression patterns with HEATR4: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for HEATR4 Gene

Orthologs for HEATR4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for HEATR4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HEATR4 33 34
  • 99.12 (n)
cow
(Bos Taurus)
Mammalia HEATR4 33 34
  • 83.9 (n)
dog
(Canis familiaris)
Mammalia HEATR4 33 34
  • 83.74 (n)
rat
(Rattus norvegicus)
Mammalia RGD1566220 33
  • 74.17 (n)
mouse
(Mus musculus)
Mammalia LOC101055670 33
  • 73.58 (n)
Gm17673 34
  • 64 (a)
OneToOne
Heatr4 16
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 53 (a)
OneToMany
-- 34
  • 41 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia HEATR4 34
  • 50 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HEATR4 34
  • 41 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia heatr4 33
  • 50.99 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC796278 33
  • 52.64 (n)
HEATR4 34
  • 32 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 30 (a)
OneToMany
CSA.7366 34
  • 20 (a)
OneToMany
Species where no ortholog for HEATR4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for HEATR4 Gene

ENSEMBL:
Gene Tree for HEATR4 (if available)
TreeFam:
Gene Tree for HEATR4 (if available)

Paralogs for HEATR4 Gene

No data available for Paralogs for HEATR4 Gene

Variants for HEATR4 Gene

Sequence variations from dbSNP and Humsavar for HEATR4 Gene

SNP ID Clin Chr 14 pos Variation AA Info Type
rs1057519450 pathogenic, Generalized hypotonia 73,537,826(-) GCGCGAGCCGGTGCGCGCG/GCGCG genic_upstream_transcript_variant, intron_variant
rs1000028636 -- 73,517,976(-) C/T intron_variant
rs1000042399 -- 73,496,632(-) T/C coding_sequence_variant, genic_downstream_transcript_variant, intron_variant, missense_variant
rs1000117038 -- 73,602,837(-) C/T genic_upstream_transcript_variant, intron_variant
rs1000119696 -- 73,631,579(-) C/T genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for HEATR4 Gene

Variant ID Type Subtype PubMed ID
dgv1102n106 CNV deletion 24896259
dgv1935n100 CNV gain 25217958
dgv21n47 CNV loss 21111241
dgv374n67 CNV loss 20364138
dgv375n67 CNV loss 20364138
dgv3760n54 CNV loss 21841781
dgv3761n54 CNV gain 21841781
dgv3762n54 CNV loss 21841781
dgv3763n54 CNV loss 21841781
dgv3764n54 CNV gain 21841781
dgv3765n54 CNV gain 21841781
dgv3766n54 CNV gain 21841781
dgv3767n54 CNV loss 21841781
dgv3768n54 CNV loss 21841781
dgv3769n54 CNV loss 21841781
dgv3770n54 CNV loss 21841781
dgv3771n54 CNV loss 21841781
dgv3772n54 CNV loss 21841781
dgv3773n54 CNV gain 21841781
dgv3774n54 CNV loss 21841781
dgv400e199 CNV deletion 23128226
dgv401e199 CNV deletion 23128226
dgv407e214 CNV gain 21293372
dgv653e212 CNV gain 25503493
dgv654e212 CNV loss 25503493
dgv655e212 CNV gain 25503493
dgv656e212 CNV gain 25503493
dgv657e212 CNV gain 25503493
dgv658e212 CNV gain 25503493
dgv659e212 CNV gain 25503493
dgv660e212 CNV loss 25503493
dgv661e212 CNV loss 25503493
dgv662e212 CNV loss 25503493
esv1006342 CNV deletion 20482838
esv2421969 OTHER complex 20811451
esv2518446 CNV loss 19546169
esv2561778 CNV deletion 19546169
esv2665379 CNV deletion 23128226
esv2672436 CNV deletion 23128226
esv2748865 CNV deletion 23290073
esv2748866 CNV deletion 23290073
esv2748867 CNV deletion 23290073
esv2759996 CNV gain 17122850
esv2760335 CNV gain+loss 21179565
esv2761566 CNV gain+loss 21179565
esv2904901 CNV deletion 24192839
esv29080 CNV gain+loss 19812545
esv29945 CNV loss 18421352
esv30006 CNV gain 17803354
esv33155 CNV gain+loss 17666407
esv3351007 CNV insertion 20981092
esv3423432 CNV duplication 20981092
esv3428529 CNV duplication 20981092
esv3551764 CNV deletion 23714750
esv3581287 CNV loss 25503493
esv3581298 CNV loss 25503493
esv3581301 CNV loss 25503493
esv3584669 CNV loss 24956385
esv3634908 CNV loss 21293372
esv3634909 CNV loss 21293372
esv3634910 CNV loss 21293372
esv3892561 CNV gain 25118596
esv990289 CNV loss 20482838
nsv1035460 CNV gain 25217958
nsv1053281 CNV gain 25217958
nsv1113661 CNV deletion 24896259
nsv1349 CNV insertion 18451855
nsv1350 CNV deletion 18451855
nsv428295 CNV gain 18775914
nsv436178 CNV deletion 17901297
nsv442687 CNV loss 18776908
nsv482172 CNV gain 20164927
nsv510643 CNV deletion 20534489
nsv514745 CNV gain 21397061
nsv514746 CNV gain 21397061
nsv514747 CNV gain+loss 21397061
nsv514748 CNV gain 21397061
nsv514749 CNV gain+loss 21397061
nsv514750 CNV gain+loss 21397061
nsv565110 CNV loss 21841781
nsv565111 CNV loss 21841781
nsv565124 CNV gain+loss 21841781
nsv565125 CNV gain 21841781
nsv565133 CNV gain 21841781
nsv565153 CNV loss 21841781
nsv565159 CNV loss 21841781
nsv565160 CNV loss 21841781
nsv565161 CNV loss 21841781
nsv565162 CNV loss 21841781
nsv819138 CNV loss 19587683
nsv821106 CNV deletion 20802225
nsv826976 CNV loss 20364138
nsv826978 CNV loss 20364138
nsv826979 CNV loss 20364138
nsv826981 CNV loss 20364138
nsv826985 CNV loss 20364138
nsv826987 CNV loss 20364138
nsv832828 CNV gain+loss 17160897
nsv9152 CNV gain+loss 18304495
nsv9153 CNV gain+loss 18304495
nsv952866 CNV deletion 24416366
nsv983843 CNV duplication 23825009

Variation tolerance for HEATR4 Gene

Residual Variation Intolerance Score: 90.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.86; 74.04% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HEATR4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HEATR4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HEATR4 Gene

Disorders for HEATR4 Gene

Additional Disease Information for HEATR4

No disorders were found for HEATR4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for HEATR4 Gene

Publications for HEATR4 Gene

  1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 2 3 4 58
  2. Systematic mapping and functional analysis of a family of human epididymal secretory sperm-located proteins. (PMID: 20736409) Li J … Liu Y (Molecular & cellular proteomics : MCP 2010) 3 4 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. A Global Analysis of the Receptor Tyrosine Kinase-Protein Phosphatase Interactome. (PMID: 28065597) Yao Z … Stagljar I (Molecular cell 2017) 3 58
  5. An atlas of genetic influences on human blood metabolites. (PMID: 24816252) Shin SY … Soranzo N (Nature genetics 2014) 3 58

Products for HEATR4 Gene

Sources for HEATR4 Gene

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