MAST2

microtubule associated serine/threonine kinase 2, the group of PDZ domain containing|AGC family kinases

Basic information

Region (hg38): 1:45786986-46036122

Links

ENSG00000086015 ∙ NCBI:23139 ∙ OMIM:612257 ∙ HGNC:19035 ∙ Uniprot:Q6P0Q8 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MAST2 gene.

• Inborn genetic diseases (64 variants)
• not provided (11 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MAST2 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				4	2	6
missense			61	5	2	68
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding						0
Total	0	0	61	9	4

Variants in MAST2

This is a list of pathogenic ClinVar variants found in the MAST2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
1-45803924-C-T		not specified	Uncertain significance (Oct 25, 2023)
1-45803933-C-T		not specified	Uncertain significance (Jan 03, 2024)
1-45803995-C-T		not specified	Uncertain significance (Jan 30, 2024)
1-45804037-C-G		not specified	Uncertain significance (Sep 17, 2021)
1-45804041-C-G		not specified	Uncertain significance (Nov 18, 2021)
1-45804049-G-C		not specified	Uncertain significance (Oct 12, 2021)
1-45824425-C-G			Benign (Jun 05, 2018)
1-45824457-C-A		not specified	Uncertain significance (Feb 08, 2023)
1-45824487-A-T		not specified	Uncertain significance (Mar 29, 2023)
1-45824506-A-G		not specified	Uncertain significance (Aug 13, 2021)
1-45824562-C-G		not specified	Uncertain significance (Mar 01, 2023)
1-45824578-C-T		not specified	Uncertain significance (Jun 11, 2021)
1-45829453-C-G		not specified	Uncertain significance (Jan 04, 2024)
1-45829463-G-T		not specified	Uncertain significance (Aug 09, 2021)
1-45882394-T-C		not specified	Uncertain significance (Jun 24, 2022)
1-45959390-C-T			Benign (Jun 27, 2018)
1-45959448-G-A		not specified	Uncertain significance (Dec 20, 2023)
1-45997731-T-G		not specified	Uncertain significance (Oct 10, 2023)
1-45997739-A-G		not specified	Uncertain significance (Dec 20, 2023)
1-45997757-C-T		not specified	Uncertain significance (Feb 21, 2024)
1-45997795-C-T		not specified	Uncertain significance (Dec 05, 2022)
1-46006373-C-T		not specified	Uncertain significance (Dec 20, 2021)
1-46006385-C-T		not specified	Uncertain significance (Nov 22, 2021)
1-46010775-A-G		not specified	Uncertain significance (Sep 16, 2021)
1-46010777-C-A		not specified	Uncertain significance (Sep 20, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MAST2	protein_coding	protein_coding	ENST00000361297	29	249138

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.71e-19	1.00	124869	1	138	125008	0.000556

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.04	845	1.03e+3	0.821	0.0000627	11557
Missense in Polyphen		337	455.81	0.73934		4971
Synonymous	-0.835	417	396	1.05	0.0000220	3815
Loss of Function	3.73	44	80.0	0.550	0.00000461	900

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00160	0.00159
Ashkenazi Jewish	0.000798	0.000794
East Asian	0.000780	0.000774
Finnish	0.000186	0.000185
European (Non-Finnish)	0.000526	0.000512
Middle Eastern	0.000780	0.000774
South Asian	0.000606	0.000588
Other	0.000165	0.000165

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Appears to link the dystrophin/utrophin network with microtubule filaments via the syntrophins. Phosphorylation of DMD or UTRN may modulate their affinities for associated proteins. Functions in a multi-protein complex in spermatid maturation. Regulates lipopolysaccharide-induced IL-12 synthesis in macrophages by forming a complex with TRAF6, resulting in the inhibition of TRAF6 NF-kappa-B activation (By similarity). {ECO:0000250}.

Recessive Scores

• pRec: 0.106

Intolerance Scores

• loftool: 0.843
• rvis_EVS: -0.16
• rvis_percentile_EVS: 41.92

Haploinsufficiency Scores

• pHI: 0.350
• hipred: Y
• hipred_score: 0.639
• ghis: 0.591

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.974

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Mouse Genome Informatics

• Gene name: Mast2
• Phenotype: adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); homeostasis/metabolism phenotype; skeleton phenotype; hematopoietic system phenotype; immune system phenotype

Gene ontology

• Biological process: protein phosphorylation;cytoskeleton organization;peptidyl-serine phosphorylation;intracellular signal transduction;regulation of interleukin-12 biosynthetic process;spermatid differentiation
• Cellular component: cytoplasm;plasma membrane;microtubule cytoskeleton
• Molecular function: magnesium ion binding;protein serine/threonine kinase activity;protein binding;ATP binding;microtubule binding;phosphatase binding