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RTKN2 rhotekin 2 [ Homo sapiens (human) ]

Gene ID: 219790, updated on 5-Aug-2022

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
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Genomic context

See RTKN2 in Genome Data Viewer
Location:
10q21.2
Exon count:
18
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (62183900..62268844, complement)
110 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 AT-rich interaction domain 5B Neighboring gene uncharacterized LOC124902435 Neighboring gene Sharpr-MPRA regulatory region 11943 Neighboring gene uncharacterized LOC283045 Neighboring gene RNA, 7SL, cytoplasmic 591, pseudogene Neighboring gene zinc finger protein 365

Genomic regions, transcripts, and products

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 gene information

Markers

Homology

Clone Names

  • DKFZp686J10120

Gene Ontology Provided by GOA

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

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_001282941.2NP_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, 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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)