Gene Gene information from NCBI Gene database.
Entrez ID 23031
Gene name Microtubule associated serine/threonine kinase 3
Gene symbol MAST3
Synonyms (NCBI Gene)
DEE108
Chromosome 19
Chromosome location 19p13.11
miRNA miRNA information provided by mirtarbase database.
703
miRTarBase ID miRNA Experiments Reference
MIRT042385 hsa-miR-484 CLASH 23622248
MIRT696092 hsa-miR-6771-3p HITS-CLIP 23313552
MIRT696091 hsa-miR-4293 HITS-CLIP 23313552
MIRT696090 hsa-miR-6849-3p HITS-CLIP 23313552
MIRT696089 hsa-miR-4786-5p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000287 Function Magnesium ion binding IEA
GO:0004672 Function Protein kinase activity IEA
GO:0004674 Function Protein serine/threonine kinase activity IBA
GO:0004674 Function Protein serine/threonine kinase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612258 19036 ENSG00000099308
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O60307
Protein name Microtubule-associated serine/threonine-protein kinase 3 (EC 2.7.11.1)
PDB 1V9V , 3KHF
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08926 DUF1908 58 331 Domain of unknown function (DUF1908) Domain
PF00069 Pkinase 367 640 Protein kinase domain Domain
PF17820 PDZ_6 982 1034 PDZ domain Domain
Sequence
MDESSLLRRRGLQKELSLPRRGRGCRSGNRKSLVVGTPSPTLSRPLSPLSVPTAGSSPLD
SPRNFSAASALNFPFARRADGRRWSLASLPSSGYGTNTPSSTLSSSSSSRERLHQLPFQP
TPDELHFLSKHFRSSENVLDEEGGRSPRLRPRSRSLSPGRATGTFDNEIVMMNHVYRERF
PKATAQMEGRLQEFLTAYAPGARLALADGVLGFIHHQIVELARDCLAKSGENLVTSRYFL
EMQEKLERLLQDAHERSDSEEVSFIVQLVRKLLIIISRPARLLECLEFDPEEFYHLLEAA
EGHAREGQGIKTDLPQYIIGQLGLAKDPLEE
MVPLSHLEEEQPPAPESPESRALVGQSRR
KPCESDFETIKLISNGAYGAVYLVRHRDTRQRFAIKKINKQNLILRNQIQQVFVERDILT
FAENPFVVSMFCSFETRRHLCMVMEYVEGGDCATLLKNMGPLPVDMARLYFAETVLALEY
LHNYGIVHRDLKPDNLLITSLGHIKLTDFGLSKIGLMSMATNLYEGHIEKDAREFIDKQV
CGTPEYIAPEVIFRQGYGKPVDWWAMGVVLYEFLVGCVPFFGDTPEELFGQVVSDEIMWP
EGDEALPADAQDLITRLLRQSPLDRLGTGGTHEVKQHPFF
LALDWAGLLRHKAEFVPQLE
AEDDTSYFDTRSERYRHLGSEDDETNDEESSTEIPQFSSCSHRFSKVYSSSEFLAVQPTP
TFAERSFSEDREEGWERSEVDYGRRLSADIRLRSWTSSGSSCQSSSSQPERGPSPSLLNT
ISLDTMPKFAFSSEDEGVGPGPAGPKRPVFILGEPDPPPAATPVMPKPSSLSADTAALSH
ARLRSNSIGARHSTPRPLDAGRGRRLGGPRDPAPEKSRASSSGGSGGGSGGRVPKSASVS
ALSLIITADDGSGGPLMSPLSPRSLSSNPSSRDSSPSRDPSPVCGSLRPPIVIHSSGKKY
GFSLRAIRVYMGDSDVYTVHHVVWSVEDGSPAQEAGLRAGDLITHINGESVLGLVHMDVV
ELLLKSGNKISLRT
TALENTSIKVGPARKNVAKGRMARRSKRSRRRETQDRRKSLFKKIS
KQTSVLHTSRSFSSGLHHSLSSSESLPGSPTHSLSPSPTTPCRSPAPDVPADTTASPPSA
SPSSSSPASPAAAGHTRPSSLHGLAAKLGPPRPKTGRRKSTSSIPPSPLACPPISAPPPR
SPSPLPGHPPAPARSPRLRRGQSADKLGTGERLDGEAGRRTRGPEAELVVMRRLHLSERR
DSFKKQEAVQEVSFDEPQEEATGLPTSVPQIAVEGEEAVPVALGPTGRD
Sequence length 1309
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
11
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
Developmental and epileptic encephalopathy 108 Pathogenic rs2041698726, rs2513188826, rs2513193892, rs1227043449 RCV002306289
RCV002306290
RCV002306291
RCV002306292
★★★★☆
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
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BILIARY LIVER CIRRHOSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Developmental and epileptic encephalopathy Uncertain significance ClinVar
Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Arthritis Rheumatoid Associate 34854396
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Inhibit 40312366
★☆☆☆☆
Found in Text Mining only
Colitis Ulcerative Associate 21994190
★☆☆☆☆
Found in Text Mining only
Inflammation Associate 21994190, 34854396
★☆☆☆☆
Found in Text Mining only
Inflammatory Bowel Diseases Associate 21994190
★☆☆☆☆
Found in Text Mining only
Lymphatic Metastasis Inhibit 40312366
★☆☆☆☆
Found in Text Mining only
Obesity Associate 34207686
★☆☆☆☆
Found in Text Mining only