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Aliases for HRNR Gene

Aliases for HRNR Gene

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

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. Among its related pathways are Immune System. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is FLG2.

UniProtKB/Swiss-Prot for HRNR Gene

  • Component of the epidermal cornified cell envelopes.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HRNR Gene

Genomics for HRNR Gene

Regulatory Elements for HRNR Gene

Enhancers for HRNR 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
GH01F152107 1.2 Ensembl ENCODE 15.3 +113.9 113944 5.1 HDGF SIN3A FEZF1 ZNF2 ZNF121 ZNF207 ZNF548 ZNF263 SP3 REST MRPL9 ENSG00000229021 HRNR RN7SL444P TCHH PIR33217 TCHHL1
GH01F151934 1.7 FANTOM5 Ensembl ENCODE 10.4 +288.4 288365 3.4 HDGF PKNOX1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 ZNF766 MRPL9 THEM4 GABPB2 ENSG00000229021 S100A10 LINGO4 THEM5 HRNR RPS10P6 C1orf56
GH01F151308 1.8 FANTOM5 Ensembl ENCODE 9.7 +912.3 912260 6.1 CREB3L1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC GABPB2 SETDB1 MRPL9 GOLPH3L ZNF687 PRPF3 ADAMTSL4 RFX5 VPS72 UBE2D3P3
GH01F151967 1.6 FANTOM5 Ensembl ENCODE 10.4 +255.5 255479 1.8 PKNOX1 ARID4B SIN3A FEZF1 ZNF2 ZNF143 ZNF416 ZNF548 FOS DEK GABPB2 MRPL9 LYSMD1 ENSG00000229021 KRT8P28 SPTLC1P4 ENSG00000226716 HMGN3P1 LCEP4 S100A10
GH01F151537 1.4 Ensembl ENCODE 10.6 +684.0 683990 7.3 HDGF PKNOX1 MLX ARID4B SIN3A FEZF1 ZNF2 YY1 SLC30A9 ZNF143 CGN SNX27 SCNM1 HRNR SETDB1 CELF3 ENSG00000227045 RIIAD1 MRPL9 OAZ3
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HRNR on UCSC Golden Path with GeneCards custom track

Genomic Location for HRNR Gene

Chromosome:
1
Start:
152,212,076 bp from pter
End:
152,224,196 bp from pter
Size:
12,121 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

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

Suggested Antigen Peptide Sequences for HRNR Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q86YZ3

UniProtKB/Swiss-Prot:

HORN_HUMAN :
  • Contains 2 EF-hand domains.
  • Belongs to the S100-fused protein family.
Domain:
  • Contains 2 EF-hand domains.
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.

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 --
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

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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
extracellular 5
nucleus 5
lysosome 4
plasma membrane 3
cytosol 3
mitochondrion 2
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for HRNR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001533 cornified envelope IEA --
GO:0005634 nucleus IDA 21630459
GO:0005737 cytoplasm IDA 21282207
GO:0030313 cell envelope IDA 21282207
GO:0036457 keratohyalin granule IDA 21282207
genes like me logo Genes that share ontologies with HRNR: view

Pathways & Interactions for HRNR Gene

SuperPathway Contained pathways
1 Immune System
genes like me logo Genes that share pathways with HRNR: view

Pathways by source for HRNR Gene

2 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:0061436 establishment of skin barrier IEP 23403047
genes like me logo Genes that share ontologies with HRNR: view

No data available for SIGNOR curated interactions for HRNR Gene

Transcripts for HRNR Gene

mRNA/cDNA for HRNR Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(1) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for HRNR Gene

Hornerin:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for HRNR Gene

GeneLoc Exon Structure for
HRNR
ECgene alternative splicing isoforms 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, PaxDb, and MOPED for HRNR Gene



NURSA nuclear receptor signaling pathways regulating expression of HRNR Gene:

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.
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 and Protein tissue co-expression partners 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 35
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 31 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 29 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Hrnr 35
  • 28 (a)
OneToOne
chicken
(Gallus gallus)
Aves CRNN 35
  • 14 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 13 (a)
OneToMany
Species where no ortholog for HRNR 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)
  • 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 squirt (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)

Paralogs for HRNR Gene

Paralogs for HRNR Gene

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

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

Variants for HRNR Gene

Sequence variations from dbSNP and Humsavar for HRNR Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs10788828 -- 152,219,403(+) GATCC(A/G)TGTTG reference, synonymous-codon
rs10888469 -- 152,224,338(+) TTCTT(C/T)CTGAC upstream-variant-2KB
rs111486574 -- 152,218,690(+) TGGAA(G/T)ACGAA reference, missense
rs111513455 -- 152,217,573(+) GCCCC(A/C)TGTCG reference, missense
rs111539149 -- 152,214,155(+) TGATG(C/T)AGAAC reference, missense

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

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

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)

Relevant External Links for HRNR Gene

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

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

Disorders for HRNR Gene

Relevant External Links for HRNR

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

No disorders were found for HRNR Gene.

No data available for MalaCards , 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 N.-H. (J. Biol. Chem. 2005) 3 4 22 64
  2. Ultraviolet B irradiation induces the expression of hornerin in xenotransplanted human skin. (PMID: 23751202) Makino T. … Shimizu T. (Acta Histochem. 2014) 3 4 64
  3. Hornerin is a component of the epidermal cornified cell envelopes. (PMID: 21282207) Henry J. … Simon M. (FASEB J. 2011) 3 4 64
  4. Highly complex peptide aggregates of the S100 fused-type protein hornerin are present in human skin. (PMID: 19020553) Wu Z. … SchrAPder J.M. (J. Invest. Dermatol. 2009) 3 22 64
  5. Variation in genes of the epidermal differentiation complex in German atopic dermatitis patients. (PMID: 19601998) Stemmler S. … Hoffjan S. (Int. J. Immunogenet. 2009) 3 46 64

Products for HRNR Gene

Sources for HRNR Gene

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