Aliases for RPTN Gene

Aliases for RPTN Gene

  • Repetin 2 3 4 5
  • Intermediate Filament-Associated Protein 3

External Ids for RPTN Gene

Previous GeneCards Identifiers for RPTN Gene

  • GC01M148940
  • GC01M150394
  • GC01M123503

Summaries for RPTN Gene

GeneCards Summary for RPTN Gene

RPTN (Repetin) is a Protein Coding gene. Diseases associated with RPTN include Restrictive Dermopathy, Lethal and Autosomal Recessive Congenital Ichthyosis. Among its related pathways are Keratinization and Developmental Biology. 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 RPTN Gene

  • Involved in the cornified cell envelope formation. Multifunctional epidermal matrix protein. Reversibly binds calcium.

Additional gene information for RPTN Gene

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

Genomics for RPTN Gene

GeneHancer (GH) Regulatory Elements for RPTN Gene

Promoters and enhancers for RPTN 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
GH01J152159 Promoter/Enhancer 1.5 EPDnew FANTOM5 Ensembl ENCODE 500.4 -6.9 -6873 14.6 ZNF217 CTCF TCF12 JUND EP300 MYC ZEB1 CTBP1 LEF1 NR2F2 RPTN FLG-AS1 TCHH HRNR POGZ ENSG00000229021 FLG THEM5 PIP5K1A S100A10
GH01J152022 Enhancer 0.8 Ensembl ENCODE dbSUPER 10 +135.2 135176 3.2 FOS GATA3 GATA2 MAX piR-51656 ENSG00000229021 S100A11 THEM4 RPTN HRNR C2CD4D-AS1 LOC105371442 NBPF18P
GH01J152459 Enhancer 0.8 ENCODE 9.3 -301.1 -301075 1.4 CTCF SP1 TRIM22 TCF12 ZNF384 IRF1 NBN GABPB1 ELF1 ZFHX2 CRCT1 LCE5A S100A11 RPTN CRNN piR-61532-019 piR-61514-019
GH01J152461 Enhancer 0.6 ENCODE 9.3 -302.5 -302532 0.2 CTCF RFX1 CUX1 TRIM22 CEBPG SRF CEBPB GATA3 ZNF654 SMC3 CRCT1 LCE5A S100A11 RPTN piR-61532-019 piR-61514-019
GH01J152458 Enhancer 0.6 ENCODE 9.3 -299.4 -299352 0.2 ZNF217 CTCF RAD21 TRIM22 SMC3 ZNF341 DEK PKNOX1 ZNF654 RFX5 FLG2 CRCT1 RPTN piR-61532-019 piR-61514-019
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RPTN on UCSC Golden Path with GeneCards custom track

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

Top Transcription factor binding sites by QIAGEN in the RPTN gene promoter:
  • AML1a
  • Evi-1
  • GATA-1
  • GATA-2
  • GATA-3
  • POU2F1
  • POU2F1a

Genomic Locations for RPTN Gene

Genomic Locations for RPTN Gene
chr1:152,153,595-152,159,228
(GRCh38/hg38)
Size:
5,634 bases
Orientation:
Minus strand
chr1:152,126,071-152,131,704
(GRCh37/hg19)
Size:
5,634 bases
Orientation:
Minus strand

Genomic View for RPTN Gene

Genes around RPTN on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for RPTN Gene

Proteins for RPTN Gene

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

    Protein Symbol:
    Q6XPR3-RPTN_HUMAN
    Recommended name:
    Repetin
    Protein Accession:
    Q6XPR3
    Secondary Accessions:
    • B7ZBZ3

    Protein attributes for RPTN Gene

    Size:
    784 amino acids
    Molecular mass:
    90731 Da
    Quaternary structure:
    No Data Available

neXtProt entry for RPTN Gene

Post-translational modifications for RPTN Gene

  • Potential substrate of transglutaminase. Some arginines are probably converted to citrullines by peptidylarginine deimidase.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RPTN Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RPTN Gene

Domains & Families for RPTN Gene

Gene Families for RPTN Gene

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

Protein Domains for RPTN Gene

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

Suggested Antigen Peptide Sequences for RPTN Gene

GenScript: Design optimal peptide antigens:
  • RPTN protein (Q2M1U5_HUMAN)
  • RPTN protein (Q2M1U7_HUMAN)
  • cDNA FLJ39117 fis, clone NTONG2006440, moderately similar to REPETIN (Q8N1M7_HUMAN)
  • Repetin (RPTN_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6XPR3

UniProtKB/Swiss-Prot:

RPTN_HUMAN :
  • Can be divided into a N-terminal domain with significant homology to S100-like calcium-binding proteins, a central domain containing a series of short tandem repeats, and two flanking segments with low homology to the consensus sequences of the central repeats.
  • Belongs to the S100-fused protein family.
Domain:
  • Can be divided into a N-terminal domain with significant homology to S100-like calcium-binding proteins, a central domain containing a series of short tandem repeats, and two flanking segments with low homology to the consensus sequences of the central repeats.
Family:
  • Belongs to the S100-fused protein family.
genes like me logo Genes that share domains with RPTN: view

Function for RPTN Gene

Molecular function for RPTN Gene

UniProtKB/Swiss-Prot Function:
Involved in the cornified cell envelope formation. Multifunctional epidermal matrix protein. Reversibly binds calcium.

Phenotypes From GWAS Catalog for RPTN Gene

Gene Ontology (GO) - Molecular Function for RPTN 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 RPTN: view
genes like me logo Genes that share phenotypes with RPTN: view

Clone Products

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

Localization for RPTN Gene

Subcellular locations from UniProtKB/Swiss-Prot for RPTN Gene

Secreted, extracellular space, extracellular matrix.

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 RPTN gene
Compartment Confidence
cytosol 5
plasma membrane 4
extracellular 3
nucleus 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for RPTN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001533 cornified envelope TAS --
GO:0005576 extracellular region IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with RPTN: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for RPTN Gene

Pathways & Interactions for RPTN Gene

PathCards logo

SuperPathways for RPTN Gene

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

Pathways by source for RPTN Gene

Interacting Proteins for RPTN Gene

;

Gene Ontology (GO) - Biological Process for RPTN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070268 cornification TAS --
genes like me logo Genes that share ontologies with RPTN: view

No data available for SIGNOR curated interactions for RPTN Gene

Drugs & Compounds for RPTN Gene

(1) Drugs for RPTN Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Approved Nutra 7884
genes like me logo Genes that share compounds with RPTN: view

Transcripts for RPTN Gene

mRNA/cDNA for RPTN Gene

2 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

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

No ASD Table

Relevant External Links for RPTN Gene

GeneLoc Exon Structure for
RPTN

Expression for RPTN Gene

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

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

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x15.7), Vagina (x14.3), Cervix - Ectocervix (x10.5), and Skin - Not Sun Exposed (Suprapubic) (x8.9).

Protein differential expression in normal tissues from HIPED for RPTN Gene

This gene is overexpressed in Urine (49.8), Cervix (11.3), and Saliva (7.9).

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



Protein tissue co-expression partners for RPTN Gene

- Elite partner

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

SOURCE GeneReport for Unigene cluster for RPTN Gene:

Hs.376144

mRNA Expression by UniProt/SwissProt for RPTN Gene:

Q6XPR3-RPTN_HUMAN
Tissue specificity: Expression is scattered in the normal epidermis but strong in the acrosyringium, the inner hair root sheath and in the filiform papilli of the tongue.

Evidence on tissue expression from TISSUES for RPTN Gene

  • Skin(4.5)
genes like me logo Genes that share expression patterns with RPTN: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for RPTN Gene

Orthologs for RPTN Gene

This gene was present in the common ancestor of chordates.

Orthologs for RPTN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RPTN 31
  • 90 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RPTN 31 30
  • 79.59 (n)
OneToOne
dog
(Canis familiaris)
Mammalia RPTN 31 30
  • 78.25 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Rptn 17 31 30
  • 72.93 (n)
rat
(Rattus norvegicus)
Mammalia Rptn 30
  • 71.73 (n)
oppossum
(Monodelphis domestica)
Mammalia RPTN 31
  • 44 (a)
OneToOne
chicken
(Gallus gallus)
Aves CRNN 31
  • 19 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 17 (a)
OneToMany
Species where no ortholog for RPTN 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)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 RPTN Gene

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

Paralogs for RPTN Gene

Paralogs for RPTN Gene

(14) SIMAP similar genes for RPTN Gene using alignment to 3 proteins:

  • RPTN_HUMAN
  • Q2M1U5_HUMAN
  • Q2M1U7_HUMAN
genes like me logo Genes that share paralogs with RPTN: view

Variants for RPTN Gene

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

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
767702 Benign: not provided 152,156,589(-) GTGGTGGGAATCTCTG INFRAME_DELETION
rs12117644 - p.Ser320Gly

Additional dbSNP identifiers (rs#s) for RPTN Gene

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

Variant ID Type Subtype PubMed ID
esv2221423 CNV deletion 18987734
esv2659441 CNV deletion 23128226
esv2718084 CNV deletion 23290073
esv2718095 CNV deletion 23290073
nsv1007097 CNV gain 25217958
nsv1014095 CNV gain 25217958
nsv482125 CNV loss 20164927
nsv547853 CNV gain 21841781

Variation tolerance for RPTN Gene

Residual Variation Intolerance Score: 96.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.13; 61.33% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RPTN Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for RPTN Gene

MalaCards: The human disease database

(2) MalaCards diseases for RPTN Gene - From: DISEASES

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

Additional Disease Information for RPTN

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

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

Publications for RPTN Gene

  1. Isolation and characterization of human repetin, a member of the fused gene family of the epidermal differentiation complex. (PMID: 15854042) Huber M … Hohl D (The Journal of investigative dermatology 2005) 2 3 4 23 54
  2. Variation in the RPTN gene may facilitate straight hair formation in Europeans and East Asians. (PMID: 29935789) Pośpiech E … Branicki W (Journal of dermatological science 2018) 3 54
  3. Altered Expression of Genes Encoding Cornulin and Repetin in Atopic Dermatitis. (PMID: 28219068) Trzeciak M … Pawelczyk T (International archives of allergy and immunology 2017) 3 54
  4. Diminished serum repetin levels in patients with schizophrenia and bipolar disorder. (PMID: 25613293) Wang S … Zhao L (Scientific reports 2015) 3 54
  5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3 54

Products for RPTN Gene

Sources for RPTN Gene