Aliases for RTKN2 Gene

Aliases for RTKN2 Gene

  • Rhotekin 2 2 3 5
  • Pleckstrin Homology Domain-Containing Family K Member 1 3 4
  • PH Domain-Containing Family K Member 1 3 4
  • BA531F24.1 2 3
  • Rhotekin-2 3 4
  • PLEKHK1 3 4
  • Pleckstrin Homology Domain Containing, Family K Member 1 2
  • Em:AC024597.2 2
  • FLJ39352 2
  • RTKN2 5

External Ids for RTKN2 Gene

Previous HGNC Symbols for RTKN2 Gene

  • PLEKHK1

Previous GeneCards Identifiers for RTKN2 Gene

  • GC10M063035
  • GC10M063835
  • GC10M063613
  • GC10M063942
  • GC10M057942

Summaries for RTKN2 Gene

GeneCards Summary for RTKN2 Gene

RTKN2 (Rhotekin 2) is a Protein Coding gene. An important paralog of this gene is RTKN.

UniProtKB/Swiss-Prot Summary for RTKN2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RTKN2 Gene

Genomics for RTKN2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RTKN2 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
GH10J062267 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 612.6 +0.6 578 3 PRDM10 ZNF692 PRDM1 ZIC2 RBFOX2 POLR2A PATZ1 ZNF501 HDAC1 GABPA RTKN2 ZNF365 piR-57133-060 ARID5B
GH10J062242 Promoter/Enhancer 1.6 EPDnew FANTOM5 ENCODE dbSUPER 11.2 +24.3 24314 4.1 GATAD2A CTCF FOXA1 STAT3 JUND ZNF143 RXRB REST RAD21 TCF12 ZNF365 ARID5B RTKN2 piR-57133-060
GH10J061750 Enhancer 1.4 Ensembl ENCODE dbSUPER 9.8 +509.8 509805 17.1 RNF2 CREB1 GATAD2A CTCF ATF7 PRDM10 ZNF629 RFX1 LEF1 IKZF1 MH359362 CABCOCO1 ARID5B CDK1 RTKN2 TMEM26 piR-37895-023
GH10J062264 Enhancer 1 FANTOM5 ENCODE 11.5 +3.8 3802 1.5 CTCF TEAD4 REST RAD21 ZNF600 CEBPA ZNF561 CEBPB OSR2 USF1 RTKN2 ZNF365 ARID5B piR-57133-060
GH10J062230 Enhancer 0.9 ENCODE dbSUPER 12.4 +35.3 35289 6.3 ZNF629 FOXA1 REST ARNT SP1 JUND CEBPB ATF3 ZNF316 OSR2 RTKN2 ZNF365 piR-57133-060 LOC105378326 ARID5B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RTKN2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RTKN2

Top Transcription factor binding sites by QIAGEN in the RTKN2 gene promoter:
  • FOXO4
  • HSF1 (long)
  • HSF1short
  • HTF
  • Meis-1
  • Meis-1a
  • Meis-1b
  • Pax-6
  • Pbx1a
  • S8

Genomic Locations for RTKN2 Gene

Genomic Locations for RTKN2 Gene
chr10:62,159,131-62,268,879
(GRCh38/hg38)
Size:
109,749 bases
Orientation:
Minus strand
chr10:63,942,794-64,028,466
(GRCh37/hg19)
Size:
85,673 bases
Orientation:
Minus strand

Genomic View for RTKN2 Gene

Genes around RTKN2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RTKN2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RTKN2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RTKN2 Gene

Proteins for RTKN2 Gene

  • Protein details for RTKN2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IZC4-RTKN2_HUMAN
    Recommended name:
    Rhotekin-2
    Protein Accession:
    Q8IZC4
    Secondary Accessions:
    • Q3ZCR1
    • Q68DZ6
    • Q8N8K1
    • Q8TAV2

    Protein attributes for RTKN2 Gene

    Size:
    609 amino acids
    Molecular mass:
    69304 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAC04837.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BC048002; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305};

    Alternative splice isoforms for RTKN2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RTKN2 Gene

Post-translational modifications for RTKN2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RTKN2 Gene

Domains & Families for RTKN2 Gene

Gene Families for RTKN2 Gene

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

Protein Domains for RTKN2 Gene

InterPro:
Blocks:
  • Pleckstrin-like
  • Protein kinase PKN/PRK1, effector
ProtoNet:

Suggested Antigen Peptide Sequences for RTKN2 Gene

GenScript: Design optimal peptide antigens:
  • Pleckstrin homology domain-containing family K member 1 (RTKN2_HUMAN)
genes like me logo Genes that share domains with RTKN2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for RTKN2 Gene

Function for RTKN2 Gene

Molecular function for RTKN2 Gene

UniProtKB/Swiss-Prot Function:
May play an important role in lymphopoiesis.
UniProtKB/Swiss-Prot Induction:
Up-regulated in cells resistant to 25-hydroxy cholesterol (25-OHC). Down-regulated in lymphocytes activated by treatment with phytohemagglutinin (PHA).

Phenotypes From GWAS Catalog for RTKN2 Gene

genes like me logo Genes that share phenotypes with RTKN2: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RTKN2

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RTKN2 Gene

Localization for RTKN2 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 RTKN2 gene
Compartment Confidence
nucleus 5
plasma membrane 2
mitochondrion 2
cytosol 2
extracellular 1
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RTKN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 15504364
GO:0005737 cytoplasm IDA 15504364
GO:0005886 plasma membrane IEA --
genes like me logo Genes that share ontologies with RTKN2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for RTKN2 Gene

Pathways & Interactions for RTKN2 Gene

PathCards logo

SuperPathways for RTKN2 Gene

No Data Available

Interacting Proteins for RTKN2 Gene

Gene Ontology (GO) - Biological Process for RTKN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0008284 positive regulation of cell proliferation IBA 21873635
GO:0030097 hemopoiesis IBA 21873635
GO:0051092 positive regulation of NF-kappaB transcription factor activity IMP 26124677
GO:1901224 positive regulation of NIK/NF-kappaB signaling IMP 26124677
genes like me logo Genes that share ontologies with RTKN2: view

No data available for Pathways by source and SIGNOR curated interactions for RTKN2 Gene

Drugs & Compounds for RTKN2 Gene

No Compound Related Data Available

Transcripts for RTKN2 Gene

mRNA/cDNA for RTKN2 Gene

2 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
3 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 RTKN2

Alternative Splicing Database (ASD) splice patterns (SP) for RTKN2 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b · 14c
SP1: - - - -
SP2: -
SP3:
SP4: -
SP5:

Relevant External Links for RTKN2 Gene

GeneLoc Exon Structure for
RTKN2

Expression for RTKN2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RTKN2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Lung (Respiratory System)

mRNA differential expression in normal tissues according to GTEx for RTKN2 Gene

This gene is overexpressed in Lung (x19.3), Esophagus - Mucosa (x6.9), and Testis (x4.1).

Protein differential expression in normal tissues from HIPED for RTKN2 Gene

This gene is overexpressed in Esophagus (34.0) and Fetal Brain (33.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for RTKN2 Gene



Protein tissue co-expression partners for RTKN2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RTKN2

SOURCE GeneReport for Unigene cluster for RTKN2 Gene:

Hs.58559

mRNA Expression by UniProt/SwissProt for RTKN2 Gene:

Q8IZC4-RTKN2_HUMAN
Tissue specificity: Expressed in lymphocytes, CD4 positive T-cells and bone marrow-derived cells. Also expressed in lung, colon, thymus and brain.

Evidence on tissue expression from TISSUES for RTKN2 Gene

  • Lung(4.4)
genes like me logo Genes that share expression patterns with RTKN2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for RTKN2 Gene

Orthologs for RTKN2 Gene

This gene was present in the common ancestor of animals.

Orthologs for RTKN2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RTKN2 30 31
  • 99.73 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia RTKN2 30 31
  • 90.18 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia RTKN2 30 31
  • 88.85 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Rtkn2 30 17 31
  • 77.44 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rtkn2 30
  • 75.23 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia RTKN2 31
  • 73 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia RTKN2 31
  • 57 (a)
OneToOne
Chicken
(Gallus gallus)
Aves RTKN2 30 31
  • 73.12 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia RTKN2 31
  • 59 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rtkn2 30
  • 66.33 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.32514 30
Zebrafish
(Danio rerio)
Actinopterygii rtkn2a 30 31
  • 58.89 (n)
OneToOne
wufl63a03 30
Worm
(Caenorhabditis elegans)
Secernentea C07B5.4 31
  • 20 (a)
OneToMany
Species where no ortholog for RTKN2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • Rainbow Trout (Oncorhynchus mykiss)
  • 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)
  • Wheat (Triticum aestivum)

Evolution for RTKN2 Gene

ENSEMBL:
Gene Tree for RTKN2 (if available)
TreeFam:
Gene Tree for RTKN2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RTKN2: view image

Paralogs for RTKN2 Gene

Paralogs for RTKN2 Gene

(1) SIMAP similar genes for RTKN2 Gene using alignment to 2 proteins:

  • RTKN2_HUMAN
  • Q5SVY4_HUMAN
genes like me logo Genes that share paralogs with RTKN2: view

Variants for RTKN2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RTKN2 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
rs563733406 Uncertain Significance: Idiopathic fibrosing alveolitis, chronic form 62,217,185(-) T/TA FRAMESHIFT_VARIANT
rs3125734 - p.His462Arg
rs3765004 - p.Lys101Thr

Additional dbSNP identifiers (rs#s) for RTKN2 Gene

Structural Variations from Database of Genomic Variants (DGV) for RTKN2 Gene

Variant ID Type Subtype PubMed ID
dgv1201n54 CNV loss 21841781
esv2737540 CNV deletion 23290073
esv2737551 CNV deletion 23290073
esv34099 CNV loss 18971310
nsv467292 CNV loss 19166990
nsv551179 CNV loss 21841781
nsv6831 CNV insertion 18451855
nsv831890 CNV gain 17160897
nsv8681 CNV gain 18304495

Variation tolerance for RTKN2 Gene

Residual Variation Intolerance Score: 41.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.14; 87.81% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RTKN2 Gene

Human Gene Mutation Database (HGMD)
RTKN2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RTKN2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RTKN2 Gene

Disorders for RTKN2 Gene

Additional Disease Information for RTKN2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform

No disorders were found for RTKN2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RTKN2 Gene

Publications for RTKN2 Gene

  1. Identification and characterization of a lymphocytic Rho-GTPase effector: rhotekin-2. (PMID: 15504364) Collier FM … Kirkland MA (Biochemical and biophysical research communications 2004) 2 3 4 23
  2. Genome-wide association study identifies eight loci associated with blood pressure. (PMID: 19430483) Newton-Cheh C … Munroe PB (Nature genetics 2009) 3 41
  3. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A … Goate A (American journal of human genetics 2006) 3 41
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. Mechanisms of resistance to the cytotoxic effects of oxysterols in human leukemic cells. (PMID: 15120425) Gregorio-King CC … Kirkland MA (The Journal of steroid biochemistry and molecular biology 2004) 3 4

Products for RTKN2 Gene

  • Signalway Proteins for RTKN2

Sources for RTKN2 Gene