Gene Gene information from NCBI Gene database.
Entrez ID 7867
Gene name MAPK activated protein kinase 3
Gene symbol MAPKAPK3
Synonyms (NCBI Gene)
3PKMAPKAP-K3MAPKAP3MAPKAPK-3MDPT3MK-3MK3
Chromosome 3
Chromosome location 3p21.2
Summary This gene encodes a member of the Ser/Thr protein kinase family. This kinase functions as a mitogen-activated protein kinase (MAP kinase)- activated protein kinase. MAP kinases are also known as extracellular signal-regulated kinases (ERKs), act as an int
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs886037913 T>C Pathogenic Missense variant, intron variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
121
miRTarBase ID miRNA Experiments Reference
MIRT022623 hsa-miR-124-3p Microarray 18668037
MIRT1131494 hsa-miR-1179 CLIP-seq
MIRT1131495 hsa-miR-1266 CLIP-seq
MIRT1131496 hsa-miR-1291 CLIP-seq
MIRT1131497 hsa-miR-1321 CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
CREB5 Activation 21132541
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
38
GO ID Ontology Definition Evidence Reference
GO:0000165 Process MAPK cascade IDA 15850461
GO:0000165 Process MAPK cascade IEA
GO:0000166 Function Nucleotide binding IEA
GO:0002224 Process Toll-like receptor signaling pathway IBA
GO:0002224 Process Toll-like receptor signaling pathway IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602130 6888 ENSG00000114738
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q16644
Protein name MAP kinase-activated protein kinase 3 (MAPK-activated protein kinase 3) (MAPKAP kinase 3) (MAPKAP-K3) (MAPKAPK-3) (MK-3) (EC 2.7.11.1) (Chromosome 3p kinase) (3pK)
Protein function Stress-activated serine/threonine-protein kinase involved in cytokines production, endocytosis, cell migration, chromatin remodeling and transcriptional regulation. Following stress, it is phosphorylated and activated by MAP kinase p38-alpha/MAP
PDB 3FHR , 3FXW , 3R1N , 3SHE , 7NRB
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00069 Pkinase 44 304 Protein kinase domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed, with a higher expression level observed in heart and skeletal muscle. No expression in brain. Expressed in the retinal pigment epithelium (PubMed:26744326). {ECO:0000269|PubMed:26744326, ECO:0000269|PubMed:8622688, EC
Sequence
Sequence length 382
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  MAPK signaling pathway
VEGF signaling pathway
  p38MAPK events
Oxidative Stress Induced Senescence
VEGFA-VEGFR2 Pathway
activated TAK1 mediates p38 MAPK activation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Patterned macular dystrophy 3 Pathogenic rs886037913 RCV000240674
★★★★☆
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
BUTTERFLY-SHAPED PIGMENTARY MACULAR DYSTROPHY Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INSOMNIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MACULAR DYSTROPHY, PATTERNED, 3 HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MAPKAPK3-related disorder Likely benign; Uncertain significance ClinVar
★★☆☆☆
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
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis Pubtator 33523907 Associate
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 26988419
★☆☆☆☆
Found in Text Mining only
Atrophoderma maculatum Anetoderma HPO_DG
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorder Autism Pubtator 35306338 Stimulate
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 31309477
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 19638618, 22465712, 34476575 Associate
★☆☆☆☆
Found in Text Mining only
Encephalitis Encephalitis Pubtator 21061152 Associate
★☆☆☆☆
Found in Text Mining only
Glioblastoma Multiforme Glioblastoma UNIPROT_DG
★☆☆☆☆
Found in Text Mining only
Glioma Glioma Pubtator 35285415 Associate
★☆☆☆☆
Found in Text Mining only
Kidney Failure Chronic Kidney failure Pubtator 30212930 Associate
★☆☆☆☆
Found in Text Mining only