Gene Gene information from NCBI Gene database.
Entrez ID 54899
Gene name PX domain containing serine/threonine kinase like
Gene symbol PXK
Synonyms (NCBI Gene)
MONAKASLOB
Chromosome 3
Chromosome location 3p14.3
Summary This gene encodes a phox (PX) domain-containing protein which may be involved in synaptic transmission and the ligand-induced internalization and degradation of epidermal growth factors. Variations in this gene may be associated with susceptibility to sys
miRNA miRNA information provided by mirtarbase database.
557
miRTarBase ID miRNA Experiments Reference
MIRT037408 hsa-miR-744-5p CLASH 23622248
MIRT469870 hsa-miR-301a-3p HITS-CLIP 21572407
MIRT469869 hsa-miR-454-3p HITS-CLIP 21572407
MIRT469868 hsa-miR-130b-3p HITS-CLIP 21572407
MIRT469867 hsa-miR-130a-3p HITS-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding NAS 16142408
GO:0003779 Function Actin binding IEA
GO:0004672 Function Protein kinase activity NAS 16142408
GO:0005515 Function Protein binding ISS 16135750
GO:0005524 Function ATP binding NAS 16142408
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611450 23326 ENSG00000168297
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q7Z7A4
Protein name PX domain-containing protein kinase-like protein (Modulator of Na,K-ATPase) (MONaKA)
Protein function Binds to and modulates brain Na,K-ATPase subunits ATP1B1 and ATP1B3 and may thereby participate in the regulation of electrical excitability and synaptic transmission. May not display kinase activity. {ECO:0000250|UniProtKB:Q8BX57, ECO:0000303|P
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00787 PX 42 122 PX domain Domain
PF02205 WH2 545 573 WH2 motif Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed in all tissues examined except in heart. Isoform 1 is expressed in high levels in the brain, skeletal muscle, spleen and testis. Isoform 7 expression has yet to be demonstrated. {ECO:0000269|PubMed:16142408}.
Sequence
MAFMEKPPAGKVLLDDTVPLTAAIEASQSLQSHTEYIIRVQRGISVENSWQIVRRYSDFD
LLNNSLQIAGLSLPLPPKKLIGNMDREFIAERQKGLQNYLNVITTNHILSNCELVKKFLD
PN
NYSANYTEIALQQVSMFFRSEPKWEVVEPLKDIGWRIRKKYFLMKIKNQPKERLVLSW
ADLGPDKYLSDKDFQCLIKLLPSCLHPYIYRVTFATANESSALLIRMFNEKGTLKDLIYK
AKPKDPFLKKYCNPKKIQGLELQQIKTYGRQILEVLKFLHDKGFPYGHLHASNVMLDGDT
CRLLDLENSLLGLPSFYRSYFSQFRKINTLESVDVHCFGHLLYEMTYGRPPDSVPVDSFP
PAPSMAVVAVLESTLSCEACKNGMPTISRLLQMPLFSDVLLTTSEKPQFKIPTKLKEALR
IAKECIEKRLIEEQKQIHQHRRLTRAQSHHGSEEERKKRKILARKKSKRSALENSEEHSA
KYSNSNNSAGSGASSPLTSPSSPTPPSTSGISALPPPPPPPPPPAAPLPPASTEAPAQLS
SQAVNGMSRGALLSSIQNFQKGTLRKAKTCDHSAPKIG
Sequence length 578
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
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
ARTHRITIS, RHEUMATOID CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DISEASE OF PERITONEUM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LUPUS ERYTHEMATOSUS, SYSTEMIC CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS Disgenet
★★☆☆☆
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 22355377 Associate
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 23740937
★☆☆☆☆
Found in Text Mining only
Carcinoma Squamous Cell Squamous cell carcinoma Pubtator 37487414 Associate
★☆☆☆☆
Found in Text Mining only
Glomerulonephritis IGA Iga nephropathy Pubtator 24458077 Associate
★☆☆☆☆
Found in Text Mining only
IGA Glomerulonephritis Glomerulonephritis BEFREE 24458077
★☆☆☆☆
Found in Text Mining only
Libman-Sacks Disease Nonbacterial verrucal endocardiosis CTD_human_DG 18204446
★☆☆☆☆
Found in Text Mining only
Liver Neoplasms Liver neoplasm Pubtator 30931641 Associate
★☆☆☆☆
Found in Text Mining only
Lupus Erythematosus Systemic Systemic lupus erythematosus Pubtator 18204446, 19442287, 24458077, 29070082, 33455918 Associate
★☆☆☆☆
Found in Text Mining only
Lupus Erythematosus, Systemic Lupus Erythematosus LHGDN 18204446
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Lupus Erythematosus, Systemic Lupus Erythematosus CTD_human_DG 18204446
★★☆☆☆
Found in Text Mining + Unknown/Other Associations