Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
84930
Gene name Gene Name - the full gene name approved by the HGNC.
Microtubule associated serine/threonine kinase like
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MASTL
Synonyms (NCBI Gene) Gene synonyms aliases
GREATWALL, GW, GWL, MAST-L, THC2
Disease Acronyms (UniProt) Disease acronyms from UniProt database
THC2
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10p12.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a microtubule-associated serine/threonine kinase. Mutations at this locus have been associated with autosomal dominant thrombocytopenia, also known as thrombocytopenia-2. Alternatively spliced transcript variants have been described for
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT021059 hsa-miR-155-5p Reporter assay;Other 18668040
MIRT021059 hsa-miR-155-5p Reporter assay;Other 20584899
MIRT047078 hsa-miR-183-5p CLASH 23622248
MIRT126555 hsa-miR-130a-3p HITS-CLIP 23824327
MIRT126560 hsa-miR-130b-3p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000086 Process G2/M transition of mitotic cell cycle IMP 20538976, 20818157
GO:0000278 Process Mitotic cell cycle IMP 20538976
GO:0004674 Function Protein serine/threonine kinase activity IBA 21873635
GO:0004674 Function Protein serine/threonine kinase activity IDA 20538976
GO:0004674 Function Protein serine/threonine kinase activity TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608221 19042 ENSG00000120539
Protein
UniProt ID Q96GX5
Protein name Serine/threonine-protein kinase greatwall (GW) (GWL) (hGWL) (EC 2.7.11.1) (Microtubule-associated serine/threonine-protein kinase-like) (MAST-L)
Protein function Serine/threonine kinase that plays a key role in M phase by acting as a regulator of mitosis entry and maintenance (PubMed:19680222). Acts by promoting the inactivation of protein phosphatase 2A (PP2A) during M phase: does not directly inhibit P
PDB 5LOH , 8V5H
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00069 Pkinase 35 202 Protein kinase domain Domain
PF00069 Pkinase 727 835 Protein kinase domain Domain
Sequence
MDPTAGSKKEPGGGAATEEGVNRIAVPKPPSIEEFSIVKPISRGAFGKVYLGQKGGKLYA
VKVVKKADMINKNMTHQVQAERDALALSKSPFIVHLYYSLQSANNVYLVMEYLIGGDVKS
LLHIYGYFDEEMAVKYISEVALALDYLHRHGIIHRDLKPDNMLISNEGHIKLTDFGLSKV
TLNRDINMMDILTTPSMAKPRQ
DYSRTPGQVLSLISSLGFNTPIAEKNQDPANILSACLS
ETSQLSQGLVCPMSVDQKDTTPYSSKLLKSCLETVASNPGMPVKCLTSNLLQSRKRLATS
SASSQSHTFISSVESECHSSPKWEKDCQESDEALGPTMMSWNAVEKLCAKSANAIETKGF
NKKDLELALSPIHNSSALPTTGRSCVNLAKKCFSGEVSWEAVELDVNNINMDTDTSQLGF
HQSNQWAVDSGGISEEHLGKRSLKRNFELVDSSPCKKIIQNKKTCVEYKHNEMTNCYTNQ
NTGLTVEVQDLKLSVHKSQQNDCANKENIVNSFTDKQQTPEKLPIPMIAKNLMCELDEDC
EKNSKRDYLSSSFLCSDDDRASKNISMNSDSSFPGISIMESPLESQPLDSDRSIKESSFE
ESNIEDPLIVTPDCQEKTSPKGVENPAVQESNQKMLGPPLEVLKTLASKRNAVAFRSFNS
HINASNNSEPSRMNMTSLDAMDISCAYSGSYPMAITPTQKRRSCMPHQQTPNQIKSGTPY
RTPKSVRRGVAPVDDGRILGTPDYLAPELLLGRAHGPAVDWWALGVCLFEFLTGIPPFND
ETPQQVFQNILKRDIPWPEGEEKLSDNAQSAVEILLTIDDTKRAGMKELKRHPLF
SDVDW
ENLQHQTMPFIPQPDDETDTSYFEARNTAQHLTVSGFSL
Sequence length 879
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    MASTL Facilitates Mitotic Progression
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Anemia Severe Aplastic Anemia rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966
View all (89 more)
22102272, 26136524
Unknown
Disease term Disease name Evidence References Source
Thrombocytopenia With Normal Platelets autosomal thrombocytopenia with normal platelets GenCC
Associations from Text Mining
Disease Name Relationship Type References
Breast Neoplasms Associate 28617547, 29976159, 32311005
Calcinosis Cutis Stimulate 28617547
Carcinogenesis Associate 30068336, 37508547
Chromosomal Instability Associate 36787737
Colorectal Neoplasms Associate 30068336, 37508547
Endometrial Neoplasms Associate 33627787
Melanoma Associate 31733171
Neoplasms Associate 26613407, 29976159, 32311005
Neoplasms Stimulate 30068336
Prostatic Neoplasms Associate 36787737