1. Gene
  2. MASTL - microtubule associated serine/threonine kinase like Gene

MASTL - microtubule associated serine/threonine kinase like Gene

Homo sapiens

Also known as GW; GWL; THC2; MAST-L; GREATWALL

Gene ID: 84930 | Gene type: protein coding

About MASTL

Cytogenetic location: 10p12.1 Genomic coordinates (GRCh38): 10:27,154,479-27,187,953 (from NCBI)

This gene has 4 transcripts (splice variants), 208 orthologues, 13 paralogues and is associated with 1 phenotype. Ubiquitous expression in bone marrow (RPKM 4.9), testis (RPKM 3.4) and 25 other tissues.

Summary

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 this locus. [provided by RefSeq, Feb 2010]

MASTL Products(7)

mRNA Protein Name
NM_001172303.3 NP_001165774.1 serine/threonine-protein kinase greatwall isoform 1
NM_001172304.3 NP_001165775.1 serine/threonine-protein kinase greatwall isoform 3
NM_001320756.2 NP_001307685.1 serine/threonine-protein kinase greatwall isoform 4
NM_001320757.2 NP_001307686.1 serine/threonine-protein kinase greatwall isoform 5
NM_001372029.1 NP_001358958.1 serine/threonine-protein kinase greatwall isoform 6
NM_001372030.1 NP_001358959.1 serine/threonine-protein kinase greatwall isoform 7
NM_032844.5 NP_116233.2 serine/threonine-protein kinase greatwall isoform 2

MASTL Protein Structure

Pkinase

Pkinase: Protein kinase domain (36 - 195)

Pkinase

Pkinase: Protein kinase domain (738 - 835)

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  • 879 a.a.
Protein Preferred Names Protein Names

serine/threonine-protein kinase greatwall

greatwall kinase homolog

Related Diseases

Diseases Alias
Autosomal Thrombocytopenia With Normal Platelets
Thrombocytopenia 2

THC2

Thrombocytopenia, Autosomal Dominant, 2

Thrombocytopenia Autosomal Dominant 2

Thrombocytopenia-2

Thrombocytopenia

Low Platelet Count

Low Platelets

Decreased Platelets

Platelet Dysfunction Nos

Gray Platelet Syndrome

Platelet Alpha-Granule Deficiency

GPS

Bdplt4

Bleeding Disorder, Platelet-Type, 4

Grey Platelet Syndrome

Platelet-Type Bleeding Disorder 4

Marked Decrease Or Absence Of Alpha-Granules And Of Platelet-Specific Alpha-Granule Proteins

Deficient Alpha Granule Syndrome

Platelet Alpha Granule Deficiency

Platelet Granule Defect

Alpha Storage Pool Deficiency

Bleeding Disorder Platelet-Type 4

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus MASTL MGD MGI:1914371
Canis familiaris MASTL VGNC VGNC:43036
Rattus norvegicus MASTL RGD RGD:1309186
Bos taurus MASTL VGNC VGNC:31260
Macaca mulatta MASTL VGNC VGNC:97789
Felis catus MASTL VGNC VGNC:63395