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RTKN2 rhotekin 2 [ Homo sapiens (human) ]

Gene ID: 219790, updated on 1-Jun-2020

Summary

Official Symbol
RTKN2provided by HGNC
Official Full Name
rhotekin 2provided by HGNC
Primary source
HGNC:HGNC:19364
See related
Ensembl:ENSG00000182010 MIM:618450
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
Expression
Biased expression in lung (RPKM 32.1) and testis (RPKM 2.2) See more
Orthologs

Genomic context

See RTKN2 in Genome Data Viewer
Location:
10q21.2
Exon count:
18
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (62159131..62268879, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (63942794..64028570, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene CRISPRi-validated cis-regulatory element chr10.1925 Neighboring gene long intergenic non-protein coding RNA 2625 Neighboring gene AT-rich interaction domain 5B Neighboring gene uncharacterized LOC105378326 Neighboring gene long intergenic non-protein coding RNA 2621 Neighboring gene uncharacterized LOC283045 Neighboring gene RNA, 7SL, cytoplasmic 591, pseudogene

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

NHGRI GWAS Catalog

Description
Functional variants in NFKBIE and RTKN2 involved in activation of the NF-κB pathway are associated with rheumatoid arthritis in Japanese.
NHGRI GWA Catalog
Genetics of rheumatoid arthritis contributes to biology and drug discovery.
NHGRI GWA Catalog
Genome-wide association study identifies eight loci associated with blood pressure.
NHGRI GWA Catalog
Genome-wide association study supports the role of the immunological system and of the neurodevelopmental processes in response to haloperidol treatment.
NHGRI GWA 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.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp686J10120

Gene Ontology Provided by GOA

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

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)

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
    Q8IZC4
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    62159131..62268879 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017015843.1XP_016871332.1  rhotekin-2 isoform X3

  2. XM_017015844.2XP_016871333.1  rhotekin-2 isoform X5

  3. XM_011539457.3XP_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
  4. XM_011539460.2XP_011537762.1  rhotekin-2 isoform X4

    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_011539456.2XP_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

RNA

  1. XR_001747053.1 RNA Sequence

  2. XR_945618.2 RNA Sequence

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