Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4140
Gene name Gene Name - the full gene name approved by the HGNC.
Microtubule affinity regulating kinase 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MARK3
Synonyms (NCBI Gene) Gene synonyms aliases
CTAK1, KP78, PAR1A, Par-1a, VIPB
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q32.32-q32.33
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is activated by phosphorylation and in turn is involved in the phosphorylation of tau proteins MAP2 and MAP4. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs376395495 C>G,T Pathogenic Coding sequence variant, intron variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT043531 hsa-miR-331-3p CLASH 23622248
MIRT1132648 hsa-miR-1228 CLIP-seq
MIRT1132649 hsa-miR-1270 CLIP-seq
MIRT1132650 hsa-miR-1912 CLIP-seq
MIRT1132651 hsa-miR-302f CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000226 Process Microtubule cytoskeleton organization IBA
GO:0004672 Function Protein kinase activity IEA
GO:0004674 Function Protein serine/threonine kinase activity EXP 16822840
GO:0004674 Function Protein serine/threonine kinase activity IDA 9543386, 12941695, 16822840, 16980613
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602678 6897 ENSG00000075413
Protein
UniProt ID P27448
Protein name MAP/microtubule affinity-regulating kinase 3 (EC 2.7.11.1) (C-TAK1) (cTAK1) (Cdc25C-associated protein kinase 1) (ELKL motif kinase 2) (EMK-2) (Protein kinase STK10) (Ser/Thr protein kinase PAR-1) (Par-1a) (Serine/threonine-protein kinase p78)
Protein function Serine/threonine-protein kinase (PubMed:16822840, PubMed:16980613, PubMed:23666762). Involved in the specific phosphorylation of microtubule-associated proteins for MAP2 and MAP4. Phosphorylates the microtubule-associated protein MAPT/TAU (PubMe
PDB 2QNJ , 3FE3 , 7P1L , 8UOH , 8UOI , 8UOJ , 8UOK , 8UOL
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00069 Pkinase 56 307 Protein kinase domain Domain
PF00627 UBA 327 363 UBA/TS-N domain Domain
PF02149 KA1 709 753 Kinase associated domain 1 Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous.
Sequence
MSTRTPLPTVNERDTENHTSHGDGRQEVTSRTSRSGARCRNSIASCADEQPHIGNYRLLK
TIGKGNFAKVKLARHILTGREVAIKIIDKTQLNPTSLQKLFREVRIMKILNHPNIVKLFE
VIETEKTLYLIMEYASGGEVFDYLVAHGRMKEKEARSKFRQIVSAVQYCHQKRIVHRDLK
AENLLLDADMNIKIADFGFSNEFTVGGKLDTFCGSPPYAAPELFQGKKYDGPEVDVWSLG
VILYTLVSGSLPFDGQNLKELRERVLRGKYRIPFYMSTDCENLLKRFLVLNPIKRGTLEQ
IMKDRWI
NAGHEEDELKPFVEPELDISDQKRIDIMVGMGYSQEEIQESLSKMKYDEITAT
YLL
LGRKSSELDASDSSSSSNLSLAKVRPSSDLNNSTGQSPHHKVQRSVSSSQKQRRYSD
HAGPAIPSVVAYPKRSQTSTADSDLKEDGISSRKSSGSAVGGKGIAPASPMLGNASNPNK
ADIPERKKSSTVPSSNTASGGMTRRNTYVCSERTTADRHSVIQNGKENSTIPDQRTPVAS
THSISSAATPDRIRFPRGTASRSTFHGQPRERRTATYNGPPASPSLSHEATPLSQTRSRG
STNLFSKLTSKLTRRNMSFRFIKRLPTEYERNGRYEGSSRNVSAEQKDENKEAKPRSLRF
TWSMKTTSSMDPGDMMREIRKVLDANNCDYEQRERFLLFCVHGDGHAENLVQWEMEVCKL
PRLSLNGVRFKRISGTSIAFKNIASKIANELKL
Sequence length 753
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    RAF activation
MAP2K and MAPK activation
Negative regulation of MAPK pathway
Signaling by moderate kinase activity BRAF mutants
Signaling by high-kinase activity BRAF mutants
Signaling by BRAF and RAF fusions
Paradoxical activation of RAF signaling by kinase inactive BRAF
Signaling downstream of RAS mutants
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Visual impairment and progressive phthisis bulbi visual impairment and progressive phthisis bulbi rs376395495 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Coronary artery disease Coronary artery disease N/A N/A GWAS
Diabetes Type 2 diabetes N/A N/A GWAS
Endometriosis Endometriosis N/A N/A GWAS
Hypertension Hypertension (confirmatory factor analysis Factor 12) N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 21811019, 24533944
Carcinoma Non Small Cell Lung Associate 36922348
Headache Associate 38087366
Myopathy Granulovacuolar Lobular with Electrical Myotonia Associate 24533944
Neoplasms Inhibit 35017636
Obesity Associate 29145611
Osteoporosis Associate 29145611
Ovarian Neoplasms Inhibit 35017636
Spinal Muscular Atrophies of Childhood Associate 20697106
Uveal melanoma Associate 37923138