Gene Gene information from NCBI Gene database.
Entrez ID 219790
Gene name Rhotekin 2
Gene symbol RTKN2
Synonyms (NCBI Gene)
PLEKHK1bA531F24.1
Chromosome 10
Chromosome location 10q21.2
miRNA miRNA information provided by mirtarbase database.
256
miRTarBase ID miRNA Experiments Reference
MIRT016449 hsa-miR-193b-3p Microarray 20304954
MIRT024839 hsa-miR-215-5p Microarray 19074876
MIRT026703 hsa-miR-192-5p Microarray 19074876
MIRT047538 hsa-miR-10a-5p CLASH 23622248
MIRT047409 hsa-miR-10b-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11
GO ID Ontology Definition Evidence Reference
GO:0005634 Component Nucleus IDA 15504364
GO:0005737 Component Cytoplasm IDA 15504364
GO:0005886 Component Plasma membrane IEA
GO:0007165 Process Signal transduction IEA
GO:0008284 Process Positive regulation of cell population proliferation IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
618450 19364 ENSG00000182010
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8IZC4
Protein name Rhotekin-2 (Pleckstrin homology domain-containing family K member 1) (PH domain-containing family K member 1)
Protein function May play an important role in lymphopoiesis.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08174 Anillin 98 247 Cell division protein anillin Domain
PF00169 PH 288 391 PH domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in lymphocytes, CD4 positive T-cells and bone marrow-derived cells. Also expressed in lung, colon, thymus and brain. {ECO:0000269|PubMed:15504364}.
Sequence
MEGPSLRGPALRLAGLPTQQDCNIQEKIDLEIRMREGIWKLLSLSTQKDQVLHAVKNLMV
CNARLMAYTSELQKLEEQIANQTGRCDVKFESKERTACKGKIAISDIRIPLMWKDSDHFS
NKERSRRYAIFCLFKMGANVFDTDVVNVDKTITDICFENVTIFNEAGPDFQIKVEVYSCC
TEESSITNTPKKLAKKLKTSISKATGKKISSVLQEEDDEMCLLLSSAVFGVKYNLLAHTT
LTLESAE
DSFKTHNLSINGNEESSFWLPLYGNMCCRLVAQPACMAEDAFAGFLNQQQMVE
GLISWRRLYCVLRGGKLYCFYSPEEIEAKVEPALVVPINKETRIRAMDKDAKKRIHNFSV
INPVPGQAITQIFAVDNREDLQKWMEAFWQH
FFDLSQWKHCCEELMKIEIMSPRKPPLFL
TKEATSVYHDMSIDSPMKLESLTDIIQKKIEETNGQFLIGQHEESLPPPWATLFDGNHQM
VIQKKVLYPASEPLHDEKGKKRQAPLPPSDKLPFSLKSQSNTDQLVKDNWGKTSVSQTSS
LDTKLSTLMHHLQKPMAAPRKLLPARRNRLSDGEHTDTKTNFEAKPVPAPRQKSIKDILD
PRSWLQAQV
Sequence length 609
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
10
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AUTOIMMUNE THYROID DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 23028356 Associate
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 27082503
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma GWASCAT_DG 29059683
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Neoplasms Breast neoplasm Pubtator 38155217 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of bladder Bladder carcinoma BEFREE 27082503
★☆☆☆☆
Found in Text Mining only
Colon Carcinoma Colon Carcinoma BEFREE 29250187
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer GWASDB_DG 24448986
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 38155217 Inhibit
★☆☆☆☆
Found in Text Mining only
Liver carcinoma Liver carcinoma BEFREE 27081789
★☆☆☆☆
Found in Text Mining only
Lupus Erythematosus, Systemic Lupus Erythematosus GWASCAT_DG 26502338
★☆☆☆☆
Found in Text Mining only