Aliases for HRNR Gene

Aliases for HRNR Gene

  • Hornerin 2 3 4 5
  • Filaggrin Family Member 3 2 3
  • S100A16 2 3
  • S100a18 2 3
  • FLG3 2 3
  • Intermediate Filament-Associated Protein 3
  • S100A18 4
  • HRNR 5

External Ids for HRNR Gene

Previous GeneCards Identifiers for HRNR Gene

  • GC01M148998
  • GC01M150451
  • GC01M123561

Summaries for HRNR Gene

GeneCards Summary for HRNR Gene

HRNR (Hornerin) is a Protein Coding gene. Diseases associated with HRNR include Epidermolysis Bullosa Simplex With Nail Dystrophy and Ichthyosis Vulgaris. Among its related pathways are Innate Immune System. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is FLG2.

UniProtKB/Swiss-Prot Summary for HRNR Gene

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

Genomics for HRNR Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for HRNR 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
GH01J152224 Promoter 0.3 EPDnew 600.7 0.0 -20 0.1 HRNR lnc-HRNR-1 piR-60031-008 FLG-AS1 FLG
GH01J152225 Enhancer 0.2 ENCODE 621.2 -1.7 -1676 1.3 HRNR lnc-HRNR-1 FLG-AS1 piR-60031-008 FLG
GH01J151940 Enhancer 1.5 FANTOM5 ENCODE dbSUPER 27.3 +280.1 280095 7.6 CREB1 GATAD2A PRDM10 ZNF629 RFX1 LEF1 ZNF692 TARDBP JUND ZNF300 ENSG00000286581 lnc-OAZ3-16 lnc-THEM4-2 POGZ GABPB2 PI4KB MRPL9 PIP5K1A LYSMD1 ENSG00000229021
GH01J152032 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 12.7 +188.2 188189 6.4 CEBPG CREB1 GATAD2A CTCF TEAD4 PRDM10 ZNF629 ZNF512 RFX1 LEF1 S100A11 GABPB2 MRPL9 HRNR ENSG00000229021 THEM4 PIP5K1A POGZ PI4KB SNX27
GH01J152188 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 18.3 +34.7 34703 2.1 CTCF PRDM10 RFX1 FOXA1 ZNF143 PKNOX1 PATZ1 REST RAD21 TRIM22 FLG-AS1 LOC112268240 HRNR FLG piR-48918 PUDPP2 RPTN
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

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

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

Top Transcription factor binding sites by QIAGEN in the HRNR gene promoter:
  • Brachyury
  • FOXJ2
  • FOXJ2 (long isoform)
  • Pax-2
  • Pax-2a
  • Pax-2b
  • Pax-4a
  • STAT5A

Genomic Locations for HRNR Gene

Genomic Locations for HRNR Gene
chr1:152,212,076-152,224,193
(GRCh38/hg38)
Size:
12,118 bases
Orientation:
Minus strand
chr1:152,184,558-152,196,669
(GRCh37/hg19)
Size:
12,112 bases
Orientation:
Minus strand

Genomic View for HRNR Gene

Genes around HRNR on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for HRNR Gene

Proteins for HRNR Gene

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

    Protein Symbol:
    Q86YZ3-HORN_HUMAN
    Recommended name:
    Hornerin
    Protein Accession:
    Q86YZ3
    Secondary Accessions:
    • Q5DT20
    • Q5U1F4

    Protein attributes for HRNR Gene

    Size:
    2850 amino acids
    Molecular mass:
    282390 Da
    Quaternary structure:
    No Data Available

neXtProt entry for HRNR Gene

Post-translational modifications for HRNR Gene

  • Processed during the process of epidermal differentiation.
  • Forms covalent cross-links mediated by transglutaminase TGM3, between glutamine and the epsilon-amino group of lysine residues (in vitro).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HRNR Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HRNR Gene

Domains & Families for HRNR Gene

Gene Families for HRNR Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for HRNR Gene

InterPro:
Blocks:
  • Calcium-binding protein, S-100/ICaBP type
ProtoNet:

Suggested Antigen Peptide Sequences for HRNR Gene

GenScript: Design optimal peptide antigens:
  • Hornerin (HORN_HUMAN)
  • Hornerin (Q5DT20_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q86YZ3

UniProtKB/Swiss-Prot:

HORN_HUMAN :
  • Belongs to the S100-fused protein family.
Family:
  • Belongs to the S100-fused protein family.
  • In the N-terminal section; belongs to the S-100 family.
genes like me logo Genes that share domains with HRNR: view

Function for HRNR Gene

Molecular function for HRNR Gene

UniProtKB/Swiss-Prot Function:
Component of the epidermal cornified cell envelopes.
UniProtKB/Swiss-Prot Induction:
By UV-B irradiation.

Phenotypes From GWAS Catalog for HRNR Gene

Gene Ontology (GO) - Molecular Function for HRNR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0046872 metal ion binding IEA --
GO:0046914 transition metal ion binding IEA --
genes like me logo Genes that share ontologies with HRNR: view
genes like me logo Genes that share phenotypes with HRNR: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HRNR Gene

Localization for HRNR Gene

Subcellular locations from UniProtKB/Swiss-Prot for HRNR Gene

Cytoplasmic granule. Note=Found in keratohyalin granules in the granular cells of the epidermis.

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 HRNR gene
Compartment Confidence
plasma membrane 5
nucleus 5
extracellular 4
lysosome 4
cytosol 3
mitochondrion 2
cytoskeleton 1
golgi apparatus 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for HRNR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001533 cornified envelope IBA,IDA 21282207
GO:0005576 extracellular region TAS --
GO:0005634 nucleus HDA 21630459
GO:0005737 cytoplasm IDA 21282207
GO:0035578 azurophil granule lumen TAS --
genes like me logo Genes that share ontologies with HRNR: view

Pathways & Interactions for HRNR Gene

PathCards logo

SuperPathways for HRNR Gene

genes like me logo Genes that share pathways with HRNR: view

Pathways by source for HRNR Gene

3 Reactome pathways for HRNR Gene

Gene Ontology (GO) - Biological Process for HRNR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organism development IEA --
GO:0031424 keratinization IEA --
GO:0043163 cell envelope organization IDA 21282207
GO:0043312 neutrophil degranulation TAS --
GO:0061436 establishment of skin barrier IBA,IEP 23403047
genes like me logo Genes that share ontologies with HRNR: view

No data available for SIGNOR curated interactions for HRNR Gene

Drugs & Compounds for HRNR Gene

(2) Drugs for HRNR Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zinc Approved, Investigational Pharma Target 1594
zinc acetate Approved, Investigational Pharma Target 0
genes like me logo Genes that share compounds with HRNR: view

Transcripts for HRNR Gene

mRNA/cDNA for HRNR Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
1 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 HRNR

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

No ASD Table

Relevant External Links for HRNR Gene

GeneLoc Exon Structure for
HRNR

Expression for HRNR Gene

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

Protein differential expression in normal tissues from HIPED for HRNR Gene

This gene is overexpressed in Urinary Bladder (33.6) and Heart (8.0).

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



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HRNR

SOURCE GeneReport for Unigene cluster for HRNR Gene:

Hs.490162

mRNA Expression by UniProt/SwissProt for HRNR Gene:

Q86YZ3-HORN_HUMAN
Tissue specificity: Expressed in cornified epidermis, psoriatic and regenerating skin after wounding. Found in the upper granular layer and in the entire cornified layer of epidermis.

Evidence on tissue expression from TISSUES for HRNR Gene

  • Skin(4.5)
  • Liver(4.3)
  • Blood(2.4)
  • Heart(2.3)
  • Kidney(2.1)
  • Nervous system(2.1)
  • Lung(2)
genes like me logo Genes that share expression patterns with HRNR: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for HRNR Gene

Orthologs for HRNR Gene

This gene was present in the common ancestor of chordates.

Orthologs for HRNR Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia HRNR 31
  • 83 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 31 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 29 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Hrnr 31
  • 28 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CRNN 31
  • 14 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 13 (a)
OneToMany
Species where no ortholog for HRNR was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • Cow (Bos Taurus)
  • Dog (Canis familiaris)
  • 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)
  • Rat (Rattus norvegicus)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for HRNR Gene

ENSEMBL:
Gene Tree for HRNR (if available)
TreeFam:
Gene Tree for HRNR (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HRNR: view image

Paralogs for HRNR Gene

Paralogs for HRNR Gene

(15) SIMAP similar genes for HRNR Gene using alignment to 2 proteins:

  • HORN_HUMAN
  • Q5DT20_HUMAN
genes like me logo Genes that share paralogs with HRNR: view

Variants for HRNR Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HRNR Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
766003 Likely Benign: not provided 152,223,172(-) A/G SYNONYMOUS_VARIANT
770329 Benign: not provided 152,223,233(-) G/A SYNONYMOUS_VARIANT
870249 Uncertain Significance: Epidermolysis bullosa simplex with nail dystrophy 152,218,588(-) T/C MISSENSE_VARIANT
870785 Uncertain Significance: not provided 152,219,490(-) G/C NONSENSE
870786 Uncertain Significance: not provided 152,219,666(-) C/G MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for HRNR Gene

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

Variant ID Type Subtype PubMed ID
dgv214e59 CNV duplication 20981092
dgv74n67 CNV gain 20364138
dgv75n67 CNV gain 20364138
esv1763423 CNV deletion 17803354
esv2159882 CNV deletion 18987734
esv2665574 CNV deletion 23128226
esv2718106 CNV deletion 23290073
esv29399 CNV gain+loss 19812545
esv3397333 CNV duplication 20981092
nsv1007097 CNV gain 25217958
nsv1014095 CNV gain 25217958
nsv1075801 CNV duplication 25765185
nsv1115369 CNV duplication 24896259
nsv1152232 CNV duplication 26484159
nsv2877 CNV insertion 18451855
nsv471347 CNV gain 19718026
nsv509468 CNV insertion 20534489
nsv514913 CNV gain 21397061
nsv547853 CNV gain 21841781
nsv57 CNV insertion 15895083
nsv8391 CNV gain+loss 18304495

Variation tolerance for HRNR Gene

Residual Variation Intolerance Score: 100% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.50; 95.54% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HRNR Gene

Human Gene Mutation Database (HGMD)
HRNR
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HRNR

SNP Genotyping and Copy Number Assay Products

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

Disorders for HRNR Gene

MalaCards: The human disease database

(3) MalaCards diseases for HRNR Gene - From: DISEASES and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search HRNR in MalaCards View complete list of genes associated with diseases

Additional Disease Information for HRNR

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with HRNR: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HRNR Gene

Publications for HRNR Gene

  1. Identification of human hornerin and its expression in regenerating and psoriatic skin. (PMID: 15507446) Takaishi M … Huh NH (The Journal of biological chemistry 2005) 2 3 4 23
  2. Ultraviolet B irradiation induces the expression of hornerin in xenotransplanted human skin. (PMID: 23751202) Makino T … Shimizu T (Acta histochemica 2014) 3 4
  3. Hornerin is a component of the epidermal cornified cell envelopes. (PMID: 21282207) Henry J … Simon M (FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2011) 3 4
  4. Highly complex peptide aggregates of the S100 fused-type protein hornerin are present in human skin. (PMID: 19020553) Wu Z … Schröder JM (The Journal of investigative dermatology 2009) 3 23
  5. Variation in genes of the epidermal differentiation complex in German atopic dermatitis patients. (PMID: 19601998) Stemmler S … Hoffjan S (International journal of immunogenetics 2009) 3 41

Products for HRNR Gene

  • Signalway ELISA kits for HRNR
  • Signalway Proteins for HRNR

Sources for HRNR Gene