RTKN Gene (Protein Coding)

Rhotekin

GC02M074548
GIFtS:
40
This gene encodes a scaffold protein that interacts with GTP-bound Rho proteins. Binding of this protein inhibits the GTPase activity of Rho proteins. This protein may interfere with the conversion of active, GTP-bound Rho to the inactive GDP-bound form by RhoGAP. Rho proteins regulate many important cellular processes, including cytokinesis, transcription, smooth muscle contra... See more...

Aliases for RTKN Gene

Aliases for RTKN Gene

  • Rhotekin 2 3 4 5
  • RTKN1 4
  • RTKN 5
  • B5 2

External Ids for RTKN Gene

Previous GeneCards Identifiers for RTKN Gene

  • GC02M074790
  • GC02M074865
  • GC02M074610
  • GC02M074627
  • GC02M074564
  • GC02M074506
  • GC02M074653
  • GC02M074389
  • GC02M074660
  • GC02M074667
  • GC02M074426
  • GC02M074440
  • GC02M074446
  • GC02M074442
  • GC02M074454
  • GC02M074427
  • GC02M074429
  • GC02M074431
  • GC02M074433
  • GC02M074437
  • GC02M074477
  • GC02M074493

Summaries for RTKN Gene

Entrez Gene Summary for RTKN Gene

  • This gene encodes a scaffold protein that interacts with GTP-bound Rho proteins. Binding of this protein inhibits the GTPase activity of Rho proteins. This protein may interfere with the conversion of active, GTP-bound Rho to the inactive GDP-bound form by RhoGAP. Rho proteins regulate many important cellular processes, including cytokinesis, transcription, smooth muscle contraction, cell growth and transformation. Dysregulation of the Rho signal transduction pathway has been implicated in many forms of cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

GeneCards Summary for RTKN Gene

RTKN (Rhotekin) is a Protein Coding gene. Among its related pathways are Signaling by GPCR and RHO GTPases Activate Rhotekin and Rhophilins. Gene Ontology (GO) annotations related to this gene include GTP binding and GTP-Rho binding. An important paralog of this gene is RTKN2.

UniProtKB/Swiss-Prot Summary for RTKN Gene

  • Mediates Rho signaling to activate NF-kappa-B and may confer increased resistance to apoptosis to cells in gastric tumorigenesis. May play a novel role in the organization of septin structures.

Gene Wiki entry for RTKN Gene

Additional gene information for RTKN Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RTKN Gene

Genomics for RTKN Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for RTKN 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
GH02J074438 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 250.7 +1.3 1343 4.2 SP1 MYC ZNF600 SSRP1 ZNF580 ZNF592 ZMYM3 KLF9 POLR2A CEBPA RTKN lnc-C2orf81-5 PCGF1 TTC31 CCDC142 ENSG00000273245 DUSP11 WBP1 AUP1 MOGS
GH02J074566 Promoter/Enhancer 1.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 260 -125.4 -125406 3.1 CEBPB EP300 EBF1 JUND IKZF1 GLIS1 POLR2A HLF NFE2L2 SPI1 RTKN HSALNG0016082 LBX2 WBP1 AUP1 HTRA2 TLX2 PCGF1 MRPL53 MOGS
GH02J074372 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.6 +68.4 68433 2.5 ZNF600 JUND ATF2 ZNF10 POLR2A SIN3A NRF1 RFX1 MEIS2 CREM lnc-SLC4A5-5 DCTN1 SLC4A5 C2orf81 ENSG00000159239 WDR54 RTKN BOLA3 BOLA3-AS1 ENSG00000272183
GH02J074575 Promoter/Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 10.4 -134.4 -134408 2.9 GABPA IRF4 GABPB1 RAD21 SPI1 MYC MAX POLR2A BATF ELF1 lnc-LOXL3-1 DOK1 LOXL3 AUP1 HTRA2 DQX1 TLX2 PCGF1 LBX2 CCDC142
GH02J074573 Promoter/Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 10 -131.5 -131549 1.3 MYC IKZF1 ZNF592 GABPA ELF1 GABPB1 SPI1 EHMT2 ETV1 FOXM1 lnc-LOXL3-1 DOK1 AUP1 HTRA2 TLX2 PCGF1 MRPL53 MOGS LBX2 WBP1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

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

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

Top Transcription factor binding sites by QIAGEN in the RTKN gene promoter:
  • Cdc5
  • GR
  • GR-alpha
  • p53
  • Pax-5

Genomic Locations for RTKN Gene

Latest Assembly
chr2:74,425,835-74,442,422
(GRCh38/hg38)
Size:
16,588 bases
Orientation:
Minus strand

Previous Assembly
chr2:74,652,962-74,669,064
(GRCh37/hg19 by Entrez Gene)
Size:
16,103 bases
Orientation:
Minus strand

chr2:74,652,963-74,669,549
(GRCh37/hg19 by Ensembl)
Size:
16,587 bases
Orientation:
Minus strand

Genomic View for RTKN Gene

Genes around RTKN on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for RTKN Gene

Proteins for RTKN Gene

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

    Protein Symbol:
    Q9BST9-RTKN_HUMAN
    Recommended name:
    Rhotekin
    Protein Accession:
    Q9BST9
    Secondary Accessions:
    • H7BXD4
    • Q8WVN1
    • Q96PT6
    • Q9HB05

    Protein attributes for RTKN Gene

    Size:
    563 amino acids
    Molecular mass:
    62667 Da
    Quaternary structure:
    • Interacts via its C-terminal region with the TAX1BP3 PDZ domain. This interaction facilitates Rho-mediated activation of the c-Fos serum response element (SRE). Interacts with SEPT9. Specifically binds to GTP-bound RHOA, RHOB and RHOC and inhibits their GTPase activity.
    SequenceCaution:
    • Sequence=AAL16767.1; Type=Frameshift; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 3]: Incomplete sequence.

    Alternative splice isoforms for RTKN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RTKN Gene

Protein Expression for RTKN Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for RTKN Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RTKN Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Abcam antibodies for RTKN

No data available for DME Specific Peptides for RTKN Gene

Domains & Families for RTKN Gene

Gene Families for RTKN Gene

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

Protein Domains for RTKN Gene

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

Suggested Antigen Peptide Sequences for RTKN Gene

GenScript: Design optimal peptide antigens:
  • Rhotekin (RTKN_HUMAN)
genes like me logo Genes that share domains with RTKN: view

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

Function for RTKN Gene

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  6. Cell Lines for research

Molecular function for RTKN Gene

UniProtKB/Swiss-Prot Function:
Mediates Rho signaling to activate NF-kappa-B and may confer increased resistance to apoptosis to cells in gastric tumorigenesis. May play a novel role in the organization of septin structures.
GENATLAS Biochemistry:
rhotekin,61kDa,expressed in many tissues including brain,muscle,binding GTP bound form of Rho inhibiting its GTPase activity

Phenotypes From GWAS Catalog for RTKN Gene

Gene Ontology (GO) - Molecular Function for RTKN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0005095 GTPase inhibitor activity IBA,IDA 10940294
GO:0005515 protein binding IPI 10940294
GO:0005525 GTP binding IEA --
GO:0017049 GTP-Rho binding IEA --
genes like me logo Genes that share ontologies with RTKN: view
genes like me logo Genes that share phenotypes with RTKN: view

Animal Models for research

Inhibitory RNAs for research

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

Clone products for research

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

Localization for RTKN 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 RTKN gene
Compartment Confidence
cytosol 5
cytoskeleton 4
mitochondrion 3
nucleus 3
plasma membrane 2
extracellular 2
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1
peroxisome 0

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for RTKN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005826 actomyosin contractile ring IBA 21873635
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with RTKN: view

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

Pathways & Interactions for RTKN Gene

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

Pathways by source for RTKN Gene

1 BioSystems pathway for RTKN Gene
1 GeneGo (Thomson Reuters) pathway for RTKN Gene
  • G-protein signaling_RhoB regulation pathway
1 Qiagen pathway for RTKN Gene
  • RhoA Pathway

SIGNOR curated interactions for RTKN Gene

Inactivates:

Gene Ontology (GO) - Biological Process for RTKN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000281 mitotic cytokinesis IBA 21873635
GO:0000915 actomyosin contractile ring assembly IBA 21873635
GO:0006915 apoptotic process IEA --
GO:0007165 signal transduction IDA 10940294
GO:0007266 Rho protein signal transduction IDA 15480428
genes like me logo Genes that share ontologies with RTKN: view

Drugs & Compounds for RTKN Gene

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  1. Drug products for research

(2) Drugs for RTKN Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0

(1) Additional Compounds for RTKN Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with RTKN: view

Transcripts for RTKN Gene

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mRNA/cDNA for RTKN Gene

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

Inhibitory RNAs for research

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

Clone products for research

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

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15a ·
SP1: - - - - - - - -
SP2: - - - -
SP3: - - - - -
SP4: - - - -
SP5: - -
SP6: - - -
SP7:
SP8: - - - - -
SP9:
SP10: - - - -

ExUns: 15b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for RTKN Gene

GeneLoc Exon Structure for
RTKN

Expression for RTKN Gene

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

mRNA expression in normal human tissues for RTKN Gene
mRNA expression by BioGPS for RTKN GenemRNA expression by GTEx for RTKN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Liver (x5.7) and Brain - Spinal cord (cervical c-1) (x4.2).

Protein differential expression in normal tissues from HIPED for RTKN Gene

This gene is overexpressed in Plasma (32.0), Pancreas (8.6), Islet of Langerhans (7.3), and Pancreatic juice (6.7).

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



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

SOURCE GeneReport for Unigene cluster for RTKN Gene:

Hs.192854

mRNA Expression by UniProt/SwissProt for RTKN Gene:

Q9BST9-RTKN_HUMAN
Tissue specificity: Highly expressed in prostate, moderately in kidney, heart, brain, spleen, testis, placenta, small intestine, pancreas, skeletal muscle and peripheral blood leukocytes, and weakly in ovary, colon and thymus. Weakly expressed in all normal cell lines tested. Overexpressed in various cancer cell lines.

Evidence on tissue expression from TISSUES for RTKN Gene

  • Liver(4.4)
  • Nervous system(4.4)
  • Kidney(2.9)
  • Skin(2.5)
  • Intestine(2.3)
  • Heart(2.2)
  • Muscle(2.1)
  • Lung(2)
  • Blood(2)
genes like me logo Genes that share expression patterns with RTKN: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for RTKN Gene

Orthologs for RTKN Gene

This gene was present in the common ancestor of animals.

Orthologs for RTKN Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia RTKN 29 30
  • 99.7 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia RTKN 29 30
  • 92.13 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia RTKN 29 30
  • 91 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Rtkn 29 16 30
  • 87.21 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Rtkn 29
  • 87.15 (n)
Oppossum
(Monodelphis domestica)
 Mammalia RTKN 30
  • 70 (a)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia RTKN 30
  • 57 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia rtkn 29
  • 63.17 (n)
Zebrafish
(Danio rerio)
 Actinopterygii si:dkey-40c11.1 29
  • 62.06 (n)
rtkn2b 30
  • 51 (a)
 OneToMany
RTKN (1 of 2) 30
  • 49 (a)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea C07B5.4 30
  • 18 (a)
 OneToMany
Species where no ortholog for RTKN 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)
  • 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)
  • Platypus (Ornithorhynchus anatinus)
  • 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 RTKN Gene

ENSEMBL:
Gene Tree for RTKN (if available)
TreeFam:
Gene Tree for RTKN (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RTKN: view image
Alliance of Genome Resources:
Additional Orthologs for RTKN

Paralogs for RTKN Gene

Paralogs for RTKN Gene

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

  • RTKN_HUMAN
genes like me logo Genes that share paralogs with RTKN: view

Variants for RTKN Gene

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  1. SNP Genotyping and Copy Number Assays for research

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

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
rs145310583 Benign: not provided 74,430,655(-) C/T
NM_001015055.2(RTKN):c.334G>A (p.Ala112Thr) 		MISSENSE
rs1573238960 Uncertain Significance: not provided 74,428,631(-) C/G
NM_001015055.2(RTKN):c.957G>C (p.Gln319His) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for RTKN Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
esv2759061 CNV loss 17122850
nsv458185 CNV loss 19166990
nsv515851 CNV loss 19592680
nsv582214 CNV loss 21841781

Variation tolerance for RTKN Gene

Residual Variation Intolerance Score: 21.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.30; 41.07% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RTKN Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RTKN
Leiden Open Variation Database (LOVD)
RTKN

SNP Genotyping and Copy Number Assays for research

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

Disorders for RTKN Gene

Additional Disease Information for RTKN

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform

No disorders were found for RTKN Gene.

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

Publications for RTKN Gene

  1. The PDZ protein TIP-1 interacts with the Rho effector rhotekin and is involved in Rho signaling to the serum response element. (PMID: 10940294) Reynaud C … Jalinot P (The Journal of biological chemistry 2000) 2 3 4 22
  2. Rho/Rhotekin-mediated NF-kappaB activation confers resistance to apoptosis. (PMID: 15480428) Liu CA … Chen JY (Oncogene 2004) 3 4 22
  3. Molecular cloning, expression characterization, and mapping of a novel putative inhibitor of rho GTPase activity, RTKN, to D2S145-D2S286. (PMID: 10873388) Fu Q … Zhao S (Genomics 2000) 3 4 22
  4. Interaction of a multi-domain adaptor protein, vinexin, with a Rho-effector, Rhotekin. (PMID: 19294487) Nagata K … Asano T (Medical molecular morphology 2009) 3 22
  5. Identification of a cell polarity-related protein, Lin-7B, as a binding partner for a Rho effector, Rhotekin, and their possible interaction in neurons. (PMID: 16979770) Sudo K … Nagata K (Neuroscience research 2006) 3 22

ExternalLinks

View latest publications for RTKN gene in Mastermind

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