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    RTKN2 rhotekin 2 [ Homo sapiens (human) ]

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

    Summary

    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
    NEW
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    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001282941.2NP_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:1974
      Hr1; Rho effector or protein kinase C-related kinase homology region 1 homologues
      pfam08174
      Location:98163
      Anillin; Cell division protein anillin
    2. NM_145307.4NP_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:1974
      Hr1; Rho effector or protein kinase C-related kinase homology region 1 homologues
      cd13249
      Location:286396
      PH_rhotekin2; Anillin Pleckstrin homology (PH) domain
      pfam00169
      Location:291388
      PH; PH domain
      pfam08174
      Location:98247
      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_017015844.3XP_016871333.1  rhotekin-2 isoform X4

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

      Conserved Domains (4) summary
      smart00742
      Location:1974
      Hr1; Rho effector or protein kinase C-related kinase homology region 1 homologues
      cd13249
      Location:286431
      PH_rhotekin2; Anillin Pleckstrin homology (PH) domain
      pfam00169
      Location:291423
      PH; PH domain
      pfam08174
      Location:98247
      Anillin; Cell division protein anillin
    3. XM_047424717.1XP_047280673.1  rhotekin-2 isoform X5

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

      Conserved Domains (4) summary
      smart00742
      Location:1974
      Hr1; Rho effector or protein kinase C-related kinase homology region 1 homologues
      cd13249
      Location:286431
      PH_rhotekin2; Anillin Pleckstrin homology (PH) domain
      pfam00169
      Location:291423
      PH; PH domain
      pfam08174
      Location:98247
      Anillin; Cell division protein anillin
    5. XM_011539456.3XP_011537758.1  rhotekin-2 isoform X1

      Conserved Domains (4) summary
      smart00742
      Location:1974
      Hr1; Rho effector or protein kinase C-related kinase homology region 1 homologues
      cd13249
      Location:286431
      PH_rhotekin2; Anillin Pleckstrin homology (PH) domain
      pfam00169
      Location:291423
      PH; PH domain
      pfam08174
      Location:98247
      Anillin; Cell division protein anillin
    6. XM_047424718.1XP_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)