MAST2

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

Basic information

Region (hg38): 1:45786987-46036122

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.

not_specified (220 variants)
not_provided (12 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. These statistics are base on transcript: NM_000015112.3. Only rare variants are included in the table.

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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				5 clinvar	2 clinvar	7
missense			211 clinvar	11 clinvar	2 clinvar	224
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	211	16	4

Loading clinvar variants...

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