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Aliases for RTKN Gene

Aliases for RTKN Gene

  • Rhotekin 2 3 3 5
  • RTKN1 4

External Ids for RTKN Gene

Previous GeneCards Identifiers for RTKN Gene

  • GC02M074790
  • GC02M074865
  • GC02M074610
  • GC02M074627
  • GC02M074564
  • GC02M074506
  • GC02M074653
  • GC02M074389
  • GC02M074660
  • GC02M074667
  • GC02M074426
  • GC02M074427
  • GC02M074429

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 RHO GTPases Activate Rhotekin and Rhophilins and G-protein signaling_RhoB regulation pathway. 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 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 , fRNAdb sequence ontologies and piRNA Summary for RTKN Gene

Genomics for RTKN Gene

GeneHancer (GH) Regulatory Elements for RTKN Gene

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
GH02I074438 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 550.8 +1.4 1366 4.2 HDGF FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 RTKN ENSG00000272183 SLC4A5 WBP1 ALMS1P1 GC02M074444 GC02M074442 GC02M074419
GH02I074444 Enhancer 1 Ensembl ENCODE 550.8 -2.0 -1982 0.8 ELF3 FOXA2 NFIB ARID4B FEZF1 ZBTB40 RAD21 RARA KLF11 NR2F2 RTKN GC02M074442 GC02M074444
GH02I074372 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 10.6 +68.4 68433 2.5 MEIS2 MXI1 KLF1 ATF1 SIN3A ZFHX2 POLR2A ZNF600 ATF7 CREM GC02M074371 DCTN1 SLC4A5 WDR54 C2orf81 ENSG00000159239 RTKN BOLA3 BOLA3-AS1 ENSG00000272183
GH02I074570 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 10 -130.4 -130405 4.3 HDGF HDAC1 PKNOX1 FOXA2 ARID4B BMI1 BATF IRF4 RAD21 ZBTB40 AUP1 MOGS PCGF1 HTRA2 DOK1 TTC31 CCDC142 DUSP11 LBX2-AS1 MOB1A
GH02I074575 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 10.4 -134.7 -134667 3.4 PKNOX1 MAX CEBPG EBF1 BATF IRF4 ZBTB40 GATA3 POLR2A ETV6 DOK1 LOXL3 HTRA2 AUP1 DQX1 TLX2 PCGF1 LBX2 TTC31 CCDC142
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RTKN on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RTKN gene promoter:

Genomic Locations for RTKN Gene

Genomic Locations for RTKN Gene
chr2:74,425,836-74,442,422
(GRCh38/hg38)
Size:
16,587 bases
Orientation:
Minus strand
chr2:74,652,963-74,669,549
(GRCh37/hg19)

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 StructureGene Density

RefSeq DNA sequence for RTKN Gene

Proteins for RTKN Gene

  • 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; Positions=15, 20; Evidence={ECO:0000305};

    Alternative splice isoforms for RTKN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RTKN Gene

Post-translational modifications for RTKN Gene

No Post-translational modifications

No data available for DME Specific Peptides for RTKN Gene

Domains & Families for RTKN Gene

Gene Families for RTKN Gene

Suggested Antigen Peptide Sequences for RTKN Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for RTKN Gene

Function for RTKN Gene

Molecular function for RTKN Gene

GENATLAS Biochemistry:
rhotekin,61kDa,expressed in many tissues including brain,muscle,binding GTP bound form of Rho inhibiting its GTPase activity
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.

Gene Ontology (GO) - Molecular Function for RTKN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005095 GTPase inhibitor activity IDA 10940294
GO:0005515 protein binding IPI 10940294
GO:0005525 GTP binding IEA --
GO:0017048 Rho GTPase binding IEA --
GO:0017049 GTP-Rho binding IDA 10940294
genes like me logo Genes that share ontologies with RTKN: view
genes like me logo Genes that share phenotypes with RTKN: view

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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
mitochondrion 3
nucleus 3
cytoskeleton 2
plasma membrane 1
peroxisome 1

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: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 GeneGo (Thomson Reuters) pathway for RTKN Gene
1 Qiagen pathway for RTKN Gene

SIGNOR curated interactions for RTKN Gene

Inactivates:

Gene Ontology (GO) - Biological Process for RTKN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process IEA --
GO:0007165 signal transduction IDA 10940294
GO:0007266 Rho protein signal transduction IDA 15480428
GO:0032185 septin cytoskeleton organization IEA --
GO:0034260 negative regulation of GTPase activity IEA --
genes like me logo Genes that share ontologies with RTKN: view

Drugs & Compounds for RTKN Gene

(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

Unigene Clusters for RTKN Gene

Rhotekin:
Representative Sequences:

Clone Products

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
ECgene alternative splicing isoforms for
RTKN

Expression for RTKN Gene

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



NURSA nuclear receptor signaling pathways regulating expression of RTKN Gene:

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(4.3)
  • Nervous system(4.2)
  • Kidney(2.3)
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 33 34
  • 99.7 (n)
dog
(Canis familiaris)
Mammalia RTKN 33 34
  • 92.13 (n)
cow
(Bos Taurus)
Mammalia RTKN 33 34
  • 91 (n)
mouse
(Mus musculus)
Mammalia Rtkn 33 16 34
  • 87.21 (n)
rat
(Rattus norvegicus)
Mammalia Rtkn 33
  • 87.15 (n)
oppossum
(Monodelphis domestica)
Mammalia RTKN 34
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RTKN 34
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rtkn 33
  • 63.17 (n)
zebrafish
(Danio rerio)
Actinopterygii si:dkey-40c11.1 33
  • 62.06 (n)
rtkn2b 34
  • 51 (a)
OneToMany
RTKN (1 of 2) 34
  • 49 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C07B5.4 34
  • 18 (a)
OneToMany
Species where no ortholog for RTKN 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)
  • 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 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)
  • wheat (Triticum aestivum)

Evolution for RTKN Gene

ENSEMBL:
Gene Tree for RTKN (if available)
TreeFam:
Gene Tree for RTKN (if available)

Paralogs for RTKN Gene

Paralogs for RTKN Gene

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

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

Variants for RTKN Gene

Sequence variations from dbSNP and Humsavar for RTKN Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000130153 -- 74,442,757(-) A/T upstream_transcript_variant
rs1000134127 -- 74,442,318(-) A/G upstream_transcript_variant
rs1000241361 -- 74,436,074(-) A/G intron_variant
rs1000480973 -- 74,443,134(-) C/A upstream_transcript_variant
rs1000519449 -- 74,443,605(-) G/C upstream_transcript_variant

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
nsv582214 CNV loss 21841781
nsv515851 CNV loss 19592680

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

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

Disorders for RTKN Gene

Additional Disease Information for RTKN

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 58
  2. Rho/Rhotekin-mediated NF-kappaB activation confers resistance to apoptosis. (PMID: 15480428) Liu CA … Chen JY (Oncogene 2004) 3 4 22 58
  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 58
  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 58
  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 58

Products for RTKN Gene

Sources for RTKN Gene

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