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RTKN2 rhotekin 2 [ Homo sapiens (human) ]

Gene ID: 219790, updated on 5-Mar-2024

Summary

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Official Symbol
RTKN2provided by HGNC
Official Full Name
rhotekin 2provided by HGNC
Primary source
HGNC:HGNC:19364
See related
Ensembl:ENSG00000182010 MIM:618450; AllianceGenome:HGNC:19364
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PLEKHK1; bA531F24.1
Summary
Involved in negative regulation of intrinsic apoptotic signaling pathway; positive regulation of NF-kappaB transcription factor activity; and positive regulation of NIK/NF-kappaB signaling. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in lung (RPKM 32.1) and testis (RPKM 2.2) See more
Orthologs
mouse all
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Genomic context

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Location:
10q21.2
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (62183900..62268844, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (63049731..63125461, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (63952845..64028603, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene CRISPRi-validated cis-regulatory element chr10.1925 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:63541146-63542345 Neighboring gene long intergenic non-protein coding RNA 2625 Neighboring gene Sharpr-MPRA regulatory region 13978 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3397 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3398 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2393 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:63661148-63661650 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2394 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3399 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3400 Neighboring gene AT-rich interaction domain 5B Neighboring gene NANOG hESC enhancer GRCh37_chr10:63746020-63746682 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3401 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3402 Neighboring gene uncharacterized LOC124902435 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3403 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3404 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3405 Neighboring gene Sharpr-MPRA regulatory region 11943 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3408 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3406 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3407 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr10:63810242-63811441 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3410 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3411 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3412 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2395 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3413 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3414 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2396 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_13587 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3415 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_13605 Neighboring gene NANOG hESC enhancer GRCh37_chr10:64024383-64024884 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2397 Neighboring gene long intergenic non-protein coding RNA 2621 Neighboring gene uncharacterized LOC283045 Neighboring gene RNA, 7SL, cytoplasmic 591, pseudogene Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:64143375-64144574 Neighboring gene zinc finger protein 365 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3416 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:64224563-64225064

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Rhotekin 2 silencing inhibits proliferation and induces apoptosis in human osteosarcoma cells. Wang X, et al. Biosci Rep, 2018 Dec 21. PMID 30389712, Free PMC Article
  2. Silencing of RTKN2 by siRNA suppresses proliferation, and induces G1 arrest and apoptosis in human bladder cancer cells. Liao YX, et al. Mol Med Rep, 2016 Jun. PMID 27082503
  3. Knockdown of Rhotekin 2 expression suppresses proliferation and invasion and induces apoptosis in hepatocellular carcinoma cells. Wei W, et al. Mol Med Rep, 2016 Jun. PMID 27081789
  4. Mechanisms of resistance to the cytotoxic effects of oxysterols in human leukemic cells. Gregorio-King CC, et al. J Steroid Biochem Mol Biol, 2004 Mar. PMID 15120425
  5. CircRNA hsa_circRNA_104348 promotes hepatocellular carcinoma progression through modulating miR-187-3p/RTKN2 axis and activating Wnt/β-catenin pathway. Huang G, et al. Cell Death Dis, 2020 Dec 14. PMID 33311442, Free PMC Article

See all (30) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. RTKN2 knockdown alleviates the malignancy of breast cancer cells by regulating the Wnt/beta-catenin pathway.
    Title: RTKN2 knockdown alleviates the malignancy of breast cancer cells by regulating the Wnt/β-catenin pathway.
  2. RTKN2 Inhibits the Growth, Migration, Invasion and Glycolysis of Lung Adenocarcinoma Cells by Inactivating the NF-kappaB Signalling Pathway.
    Title: RTKN2 Inhibits the Growth, Migration, Invasion and Glycolysis of Lung Adenocarcinoma Cells by Inactivating the NF-κB Signalling Pathway.
  3. CircRNA hsa_circRNA_104348 promotes hepatocellular carcinoma progression through modulating miR-187-3p/RTKN2 axis and activating Wnt/beta-catenin pathway.
    Title: CircRNA hsa_circRNA_104348 promotes hepatocellular carcinoma progression through modulating miR-187-3p/RTKN2 axis and activating Wnt/β-catenin pathway.
  4. These findings indicate that miR-181 functions as a tumor suppressor and plays a substantial role in inhibiting the tumorigenesis and reversing the metastasis of ovarian cancer through RTKN2-NF-kappaB signaling pathway in vitro
    Title: MicroRNA-181 Functions as an Antioncogene and Mediates NF-κB Pathway by Targeting RTKN2 in Ovarian Cancers.
  5. hese results suggested that RTKN2 is involved in the progression of human osteosarcoma, and may be a potential therapeutic target.
    Title: Rhotekin 2 silencing inhibits proliferation and induces apoptosis in human osteosarcoma cells.
  6. mutations in Pakistani patients with dilated cardiomyopathy rs375563861 (C2orf40), rs143187236 (MYOM3), and rs564181443 (RTKN2) have 3 fold or higher allele frequency in South Asians than in the global populations
    Title: Rare genetic mutations in Pakistani patients with dilated cardiomyopathy.
  7. RTKN2 was upregulated in human bladder cancer tissues and cell lines. Silencing of RTKN2 inhibited proliferation and invasion, and induced cell apoptosis. In addition, knockdown of RTKN2 arrested the cell cycle at the G1 phase via inhibition of the expression of cell cycle-associated proteins.
    Title: Silencing of RTKN2 by siRNA suppresses proliferation, and induces G1 arrest and apoptosis in human bladder cancer cells.
  8. RTKN2 was overexpressed in HCC tissues. RTKN2 served an important role in tumorigenesis and metastasis of HCC.
    Title: Knockdown of Rhotekin 2 expression suppresses proliferation and invasion and induces apoptosis in hepatocellular carcinoma cells.
  9. miR-1246 promotes UVB-induced apoptosis by downregulating RTKN2 expression and that UVB-upregulated miR-1246 released RTKN2-dependent resistance to UVB-induced apoptosis by targeting RTKN2 post-transcriptionally in keratinocyte cells.
    Title: miR-1246 releases RTKN2-dependent resistance to UVB-induced apoptosis in HaCaT cells.
  10. we identified two gene loci associated with rheumatoid arthritis susceptibility- NFKBIE and RTKN2
    Title: Functional variants in NFKBIE and RTKN2 involved in activation of the NF-κB pathway are associated with rheumatoid arthritis in Japanese.
Submit: New GeneRIF Correction See all GeneRIFs (12)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Functional variants in NFKBIE and RTKN2 involved in activation of the NF-κB pathway are associated with rheumatoid arthritis in Japanese.
EBI GWAS Catalog
Genetics of rheumatoid arthritis contributes to biology and drug discovery.
EBI GWAS Catalog
Genome-wide association study identifies eight loci associated with blood pressure.
EBI GWAS Catalog
Genome-wide association study supports the role of the immunological system and of the neurodevelopmental processes in response to haloperidol treatment.
EBI GWAS Catalog
Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • DKFZp686J10120

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in hemopoiesis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of intrinsic apoptotic signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of NF-kappaB transcription factor activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of cell population proliferation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of non-canonical NF-kappaB signal transduction IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in signal transduction IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
rhotekin-2
Names
PH domain-containing family K member 1
pleckstrin homology domain-containing family K member 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001282941.2 → NP_001269870.1  rhotekin-2 isoform 2

    See identical proteins and their annotated locations for NP_001269870.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks several exons and its 3' terminal exon extends past a splice site that is used in variant 1. This results in a novel 3' coding region and 3' UTR, compared to variant 1. It encodes isoform 2 which is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC024597, BC141821, BX113509
    Consensus CDS
    CCDS73140.1
    UniProtKB/Swiss-Prot
    Q8IZC4
    Related
    ENSP00000378678.3, ENST00000395260.3
    Conserved Domains (2) summary
    smart00742
    Location:19 → 74
    Hr1; Rho effector or protein kinase C-related kinase homology region 1 homologues
    pfam08174
    Location:98 → 163
    Anillin; Cell division protein anillin

  2. NM_145307.4 → NP_660350.2  rhotekin-2 isoform 1

    See identical proteins and their annotated locations for NP_660350.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AL607150, AY150309, BC141821, BG029885, BX113509
    Consensus CDS
    CCDS7263.1
    UniProtKB/Swiss-Prot
    Q3ZCR1, Q68DZ6, Q8IZC4, Q8N8K1, Q8TAV2
    Related
    ENSP00000362894.3, ENST00000373789.8
    Conserved Domains (4) summary
    smart00742
    Location:19 → 74
    Hr1; Rho effector or protein kinase C-related kinase homology region 1 homologues
    cd13249
    Location:286 → 396
    PH_rhotekin2; Anillin Pleckstrin homology (PH) domain
    pfam00169
    Location:291 → 388
    PH; PH domain
    pfam08174
    Location:98 → 247
    Anillin; Cell division protein anillin

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    62183900..62268844 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017015844.3 → XP_016871333.1  rhotekin-2 isoform X4

  2. XM_011539457.4 → XP_011537759.1  rhotekin-2 isoform X2

    Conserved Domains (4) summary
    smart00742
    Location:19 → 74
    Hr1; Rho effector or protein kinase C-related kinase homology region 1 homologues
    cd13249
    Location:286 → 431
    PH_rhotekin2; Anillin Pleckstrin homology (PH) domain
    pfam00169
    Location:291 → 423
    PH; PH domain
    pfam08174
    Location:98 → 247
    Anillin; Cell division protein anillin

  3. XM_047424717.1 → XP_047280673.1  rhotekin-2 isoform X5

  4. XM_011539460.3 → XP_011537762.1  rhotekin-2 isoform X3

    Conserved Domains (4) summary
    smart00742
    Location:19 → 74
    Hr1; Rho effector or protein kinase C-related kinase homology region 1 homologues
    cd13249
    Location:286 → 431
    PH_rhotekin2; Anillin Pleckstrin homology (PH) domain
    pfam00169
    Location:291 → 423
    PH; PH domain
    pfam08174
    Location:98 → 247
    Anillin; Cell division protein anillin

  5. XM_011539456.3 → XP_011537758.1  rhotekin-2 isoform X1

    Conserved Domains (4) summary
    smart00742
    Location:19 → 74
    Hr1; Rho effector or protein kinase C-related kinase homology region 1 homologues
    cd13249
    Location:286 → 431
    PH_rhotekin2; Anillin Pleckstrin homology (PH) domain
    pfam00169
    Location:291 → 423
    PH; PH domain
    pfam08174
    Location:98 → 247
    Anillin; Cell division protein anillin

  6. XM_047424718.1 → XP_047280674.1  rhotekin-2 isoform X6

RNA

  1. XR_945618.3 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    63049731..63125461 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8IZC4.1 GenPept UniProtKB/Swiss-Prot:Q8IZC4

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